Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut MKI67 4288 broad.mit.edu 37 10 129906236 129906236 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:129906236G>A ENST00000368654.3 - 13 4243 c.3868C>T c.(3868-3870)Cca>Tca p.P1290S MKI67_ENST00000368653.3_Missense_Mutation_p.P930S NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1290 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CCTGCTGATGGCATTAGATTC 0.488000 9 1184 0 0 1 0 0 SLC10A4 201780 broad.mit.edu 37 4 48490662 48490662 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:48490662T>C ENST00000273861.4 + 3 1239 c.1020T>C c.(1018-1020)aaT>aaC p.N340N NM_152679.3 NP_689892.1 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 340 integral to membrane bile acid:sodium symporter activity central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 6 GTAGTCAGAATGTGCAGCTCT 0.468000 4 193 0 0 1 0 0 GPR64 10149 broad.mit.edu 37 X 19018058 19018058 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:19018058T>C ENST00000379878.3 - 24 2444 c.2203A>G c.(2203-2205)Acc>Gcc p.T735A GPR64_ENST00000356606.4_Missense_Mutation_p.T737A|GPR64_ENST00000357991.3_Missense_Mutation_p.T748A|GPR64_ENST00000360279.4_Missense_Mutation_p.T729A|GPR64_ENST00000357544.3_Missense_Mutation_p.T721A|GPR64_ENST00000340581.3_Missense_Mutation_p.T632A|GPR64_ENST00000379869.3_Missense_Mutation_p.T751A|GPR64_ENST00000379873.2_Missense_Mutation_p.T751A|GPR64_ENST00000379876.1_Missense_Mutation_p.T727A|GPR64_ENST00000354791.3_Missense_Mutation_p.T735A NM_001184833.1 NP_001171762.1 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 751 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) AGGATGATGGTCACAACCACA 0.453000 5 175 0 0 1 0 0 CA14 23632 broad.mit.edu 37 1 150237049 150237049 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:150237049C>A ENST00000369111.4 + 11 1974 c.1004C>A c.(1003-1005)aCt>aAt p.T335N NM_012113.1 NP_036245.1 Q9ULX7 CAH14_HUMAN carbonic anhydrase XIV 335 integral to membrane carbonate dehydratase activity|metal ion binding central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 18 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CAAGCCACGACTGAGGCATAA 0.478000 39 169 4.90955e-16 6.34151e-16 1 1 0 SLC9A9 285195 broad.mit.edu 37 3 143292951 143292951 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:143292951C>T ENST00000316549.6 - 8 1187 c.979G>A c.(979-981)Gcc>Acc p.A327T NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 327 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 GCAGCCTCGGCAGACAGGAAG 0.532000 5 91 0 0 1 0 0 MTG2 26164 broad.mit.edu 37 20 60773849 60773849 + Nonsense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:60773849C>T ENST00000370823.3 + 5 646 c.628C>T c.(628-630)Cag>Tag p.Q210* MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron|MTG2_ENST00000461411.1_3'UTR NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 TACCCCTGGACAGCCAGGACA 0.627000 5 58 0 0 1 0 0 AGAP3 116988 broad.mit.edu 37 7 150839661 150839661 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:150839661C>T ENST00000397238.2 + 16 2213 c.2213C>T c.(2212-2214)gCc>gTc p.A738V AGAP3_ENST00000463381.1_Missense_Mutation_p.A407V NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 702 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 AATGCCCTCGCCAACAGCGTC 0.667000 17 37 0 0 1 0 0 NADSYN1 55191 broad.mit.edu 37 11 71208625 71208625 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:71208625G>A ENST00000319023.2 + 19 2049 c.1861G>A c.(1861-1863)Ggc>Agc p.G621S NADSYN1_ENST00000539574.1_Missense_Mutation_p.G361S|NADSYN1_ENST00000530055.1_Missense_Mutation_p.G250S NM_018161.4 NP_060631.2 Q6IA69 NADE_HUMAN NAD synthetase 1 621 Ligase (By similarity). NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CAAACTCCTCGGCATGTGGAG 0.547000 8 569 0 0 1 0 0 TMEM42 131616 broad.mit.edu 37 3 44906548 44906548 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:44906548T>C ENST00000302392.4 + 3 412 c.356T>C c.(355-357)gTg>gCg p.V119A NM_144638.1 NP_653239.1 Q69YG0 TMM42_HUMAN transmembrane protein 42 119 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576) CTGGGCTATGTGCTGTATGGA 0.557000 6 476 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135158714 135158714 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:135158714T>C ENST00000372169.2 - 19 6665 c.6483A>G c.(6481-6483)ttA>ttG p.L2161L SETX_ENST00000393220.1_Silent_p.L2161L|SETX_ENST00000224140.5_Silent_p.L2161L Q7Z333 SETX_HUMAN senataxin 2161 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) ACTCAAGTAGTAAACCACCAC 0.478000 48 126 0 0 1 0 0 SLC36A1 206358 broad.mit.edu 37 5 150859002 150859002 + Nonsense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:150859002G>T ENST00000243389.3 + 10 1334 c.1111G>T c.(1111-1113)Gag>Tag p.E371* SLC36A1_ENST00000521925.1_Nonsense_Mutation_p.E371*|SLC36A1_ENST00000520701.1_Nonsense_Mutation_p.E371* NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 371 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) CGAGCACTGTGAGTTAGTGGT 0.527000 20 467 2.21704e-12 2.8143e-12 1 1 0 GPR87 53836 broad.mit.edu 37 3 151012468 151012468 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:151012468A>T ENST00000260843.4 - 3 1030 c.566T>A c.(565-567)aTc>aAc p.I189N MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron NM_023915.3 NP_076404.3 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 189 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 19 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGTCATGGATATTGTCCTC 0.448000 5 489 0 0 1 0 0 ZNF57 126295 broad.mit.edu 37 19 2917735 2917735 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:2917735C>A ENST00000306908.5 + 4 1264 c.1116C>A c.(1114-1116)gcC>gcA p.A372A ZNF57_ENST00000523428.1_Silent_p.A340A|AC006277.2_ENST00000520090.2_RNA NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 372 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) GTGGGAAAGCCTTCACTTGGT 0.438000 45 140 2.18419e-29 2.91721e-29 1 1 0 FDX1 2230 broad.mit.edu 37 11 110327646 110327646 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:110327646A>G ENST00000260270.2 + 3 553 c.315A>G c.(313-315)gcA>gcG p.A105A NM_004109.4 NP_004100.1 P10109 ADX_HUMAN ferredoxin 1 105 2Fe-2S ferredoxin-type. electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding lung(2) 2 all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228) Mitotane(DB00648) TGTCAGGTGCATGTGAGGGAA 0.418000 6 349 0 0 1 0 0 OR4D1 26689 broad.mit.edu 37 17 56232613 56232613 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:56232613A>T ENST00000268912.5 + 1 120 c.99A>T c.(97-99)ttA>ttT p.L33F NM_012374.1 NP_036506.1 Q15615 OR4D1_HUMAN olfactory receptor, family 4, subfamily D, member 1 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 TGTTCCTGTTAGTCTATGTTA 0.458000 7 233 0 0 1 0 0 GPR65 8477 broad.mit.edu 37 14 88477948 88477948 + Nonsense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:88477948G>T ENST00000267549.3 + 2 1315 c.757G>T c.(757-759)Gag>Tag p.E253* RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 253 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 CTGCATTTTAGAGCATGCTGT 0.383000 5 252 1.23904e-05 1.42538e-05 1 1 0 EXTL2 2135 broad.mit.edu 37 1 101339500 101339500 + Nonstop_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:101339500A>T ENST00000370114.3 - 5 2427 c.991T>A c.(991-993)Taa>Aaa p.*331K EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K|EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K NM_001033025.2|NM_001261440.1 NP_001028197.1|NP_001248369.1 Q9UBQ6 EXTL2_HUMAN exostosin-like glycosyltransferase 2 0 N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 14 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) TTTTACTTTTATATTTTTCTT 0.303000 4 49 0 0 1 0 0 BLK 640 broad.mit.edu 37 8 11412980 11412980 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:11412980C>A ENST00000259089.4 + 8 1351 c.759C>A c.(757-759)ggC>ggA p.G253G BLK_ENST00000529894.1_Silent_p.G182G NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 253 Protein kinase. 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) GACAATTCGGCGAAGTCTGGA 0.607000 7 58 0.335167 0.337459 1 1 0 MYL1 4632 broad.mit.edu 37 2 211163200 211163200 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:211163200C>T ENST00000352451.3 - 3 395 c.248G>A c.(247-249)gGc>gAc p.G83D MYL1_ENST00000341685.4_Missense_Mutation_p.G39D|MYL1_ENST00000496436.1_5'UTR NM_079420.2 NP_524144.1 P05976 MYL1_HUMAN myosin, light chain 1, alkali; skeletal, fast 83 EF-hand 1. muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) GGGATTTGTGCCCAGAGCTCG 0.463000 4 168 0 0 1 0 0 GZF1 64412 broad.mit.edu 37 20 23345617 23345617 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:23345617G>T ENST00000338121.5 + 2 674 c.597G>T c.(595-597)aaG>aaT p.K199N GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.K199N Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 199 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TGCCACCGAAGAAGTCCAAGG 0.527000 6 272 0.00307968 0.00333443 1 1 0 OR52B6 340980 broad.mit.edu 37 11 5602518 5602518 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:5602518G>T ENST00000345043.2 + 1 412 c.412G>T c.(412-414)Gcc>Tcc p.A138S HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTGGCCATGGCCTTTGACCG 0.522000 37 322 9.80977e-26 1.29261e-25 1 1 0 SMG7 9887 broad.mit.edu 37 1 183495729 183495729 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:183495729A>T ENST00000367537.3 + 6 594 c.e6-1 SMG7_ENST00000507406.1_Splice_Site|SMG7_ENST00000515829.2_Splice_Site|SMG7_ENST00000508461.1_Splice_Site|SMG7_ENST00000347615.2_Splice_Site|SMG7_ENST00000507469.1_Splice_Site|SMG7_ENST00000456731.2_Splice_Site Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TTTTTCTTTTAGTTATTACAA 0.333000 4 35 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48523136 48523136 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:48523136C>A ENST00000537810.1 - 55 8222 c.7618G>T c.(7618-7620)Gtg>Ttg p.V2540L FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.V2540L|FRYL_ENST00000358350.4_Missense_Mutation_p.V2540L|FRYL_ENST00000264319.7_5'UTR O94915 FRYL_HUMAN FRY-like 2540 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 ATTTGAAGCACTTCCTCTGTT 0.488000 7 351 0.00307968 0.00333443 1 1 0 ATP2A2 488 broad.mit.edu 37 12 110777203 110777203 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:110777203G>A ENST00000395494.2 + 11 2019 c.1456G>A c.(1456-1458)Gtg>Atg p.V486M ATP2A2_ENST00000539276.2_Missense_Mutation_p.V513M|ATP2A2_ENST00000308664.6_Missense_Mutation_p.V513M P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 513 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CAAGATGTTTGTGAAGGCAAG 0.373000 3 45 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66463969 66463969 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:66463969G>A ENST00000533211.1 - 21 4388 c.4057C>T c.(4057-4059)Ctg>Ttg p.L1353L SPTBN2_ENST00000309996.2_Silent_p.L1353L|SPTBN2_ENST00000529997.1_Silent_p.L1353L O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1353 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 TCCGACACCAGGGCTTTCAGC 0.577000 5 757 0 0 1 0 0 OR7G2 390882 broad.mit.edu 37 19 9213196 9213196 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:9213196C>A ENST00000305456.2 - 1 786 c.787G>T c.(787-789)Ggg>Tgg p.G263W NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 AGGTGAGACCCACAGGTGGAA 0.473000 7 186 0.00448238 0.00483539 1 1 0 GALNT15 117248 broad.mit.edu 37 3 16254213 16254213 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:16254213G>A ENST00000339732.5 + 6 1838 c.1335G>A c.(1333-1335)ctG>ctA p.L445L GALNT15_ENST00000437509.1_Silent_p.L445L NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 AGACCTGGCTGGGGTCATTCA 0.562000 6 796 0 0 1 0 0 CCDC11 220136 broad.mit.edu 37 18 47777146 47777146 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:47777146A>T ENST00000398545.4 - 5 1095 c.978T>A c.(976-978)gaT>gaA p.D326E NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 326 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) GTTTCTTTTTATCTGCCTCTT 0.423000 9 877 0 0 1 0 0 ETAA1 54465 broad.mit.edu 37 2 67632411 67632411 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:67632411C>T ENST00000272342.5 + 5 2727 c.2597C>T c.(2596-2598)gCt>gTt p.A866V ETAA1_ENST00000462772.1_3'UTR NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 866 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 CTGGAGGAAGCTGTTGGACAG 0.333000 3 36 0 0 1 0 0 ACAP1 9744 broad.mit.edu 37 17 7246727 7246727 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:7246727G>A ENST00000158762.3 + 6 580 c.374G>A c.(373-375)cGg>cAg p.R125Q ACAP1_ENST00000573893.1_3'UTR NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 125 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 GAGGCTCGCCGGGATTTCTGG 0.632000 4 177 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56722041 56722041 + Missense_Mutation SNP G G A rs143838622 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:56722041G>A ENST00000425394.2 - 4 930 c.554C>T c.(553-555)aCt>aTt p.T185I PAN2_ENST00000440411.3_Missense_Mutation_p.T185I|PAN2_ENST00000257931.5_Missense_Mutation_p.T185I|PAN2_ENST00000548043.1_Missense_Mutation_p.T185I NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 185 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CTCCTGGACAGTGTTAAGATC 0.507000 5 376 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42788641 42788641 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr13:42788641A>T ENST00000379274.2 + 25 3035 c.e25-1 DGKH_ENST00000536612.1_Splice_Site|DGKH_ENST00000498255.2_Splice_Site|DGKH_ENST00000540693.1_Splice_Site|DGKH_ENST00000538674.1_Splice_Site|DGKH_ENST00000261491.4_Splice_Site|DGKH_ENST00000337343.4_Splice_Site Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) TTTTGCTTTTAGGATATGTGA 0.358000 5 147 0 0 1 0 0 ZNF195 7748 broad.mit.edu 37 11 3380960 3380960 + Silent SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:3380960A>T ENST00000354599.6 - 4 1166 c.1062T>A c.(1060-1062)acT>acA p.T354T ZNF195_ENST00000343338.7_Silent_p.T358T|ZNF195_ENST00000429541.2_Silent_p.T358T|ZNF195_ENST00000399602.4_Silent_p.T426T|ZNF195_ENST00000005082.9_Silent_p.T403T|ZNF195_ENST00000526601.1_Silent_p.T407T|ZNF195_ENST00000528796.1_Intron NM_001242843.1|NM_001256825.1|NM_007152.4 NP_001229772.1|NP_001243754.1|NP_009083.2 O14628 ZN195_HUMAN zinc finger protein 195 426 Missing (in Ref. 2; BAD18466). 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) TCTTATGTTTAGTAAGGTCTG 0.433000 6 330 0 0 1 0 0 BMP7 655 broad.mit.edu 37 20 55758861 55758861 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:55758861C>T ENST00000395863.3 - 4 1380 c.875G>A c.(874-876)cGg>cAg p.R292Q BMP7_ENST00000450594.2_Missense_Mutation_p.R292Q|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Intron NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 292 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) CCCCGTGGACCGGATGCTGCG 0.637000 5 776 0 0 1 0 0 STAT2 6773 broad.mit.edu 37 12 56749927 56749927 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:56749927G>A ENST00000314128.4 - 3 297 c.274C>T c.(274-276)Cgg>Tgg p.R92W STAT2_ENST00000418572.2_Missense_Mutation_p.R92W|STAT2_ENST00000557235.1_Missense_Mutation_p.R92W P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 92 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 TGAATGTCCCGGCAGAATTTC 0.512000 6 433 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43820076 43820076 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:43820076C>A ENST00000382031.1 + 5 7150 c.7119C>A c.(7117-7119)tcC>tcA p.S2373S MAP1A_ENST00000300231.5_Silent_p.S2135S|MAP1A_ENST00000399453.1_Silent_p.S2135S P78559 MAP1A_HUMAN microtubule-associated protein 1A 2135 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CTATGGGGTCCCCCACATTAT 0.577000 4 97 0.27861 0.281478 1 1 0 MGP 4256 broad.mit.edu 37 12 15038693 15038693 + Silent SNP G G A rs142282008 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:15038693G>A ENST00000539261.1 - 1 167 c.33C>T c.(31-33)gcC>gcT p.A11A C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Silent_p.A11A NM_000900.3 NP_000891.2 P08493 MGP_HUMAN matrix Gla protein 11 cartilage condensation|cell differentiation|ossification|regulation of bone mineralization proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent|structural constituent of bone large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 7 CCGCTAAGGCGGCCAGGATGG 0.478000 4 203 0 0 1 0 0 ETAA1 54465 broad.mit.edu 37 2 67630070 67630070 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:67630070C>A ENST00000272342.5 + 4 636 c.506C>A c.(505-507)gCa>gAa p.A169E ETAA1_ENST00000462772.1_3'UTR NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 169 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 CCCAGTGTAGCAAAAGGAAAA 0.353000 7 66 0.0381472 0.0396974 1 1 0 PCDHB14 56122 broad.mit.edu 37 5 140604589 140604589 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:140604589C>A ENST00000239449.4 + 1 1512 c.1512C>A c.(1510-1512)gtC>gtA p.V504V PCDHB14_ENST00000515856.2_Silent_p.V351V NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 504 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTCCTTGGTCTCCATCAACG 0.657000 3 79 0.184627 0.188467 1 1 0 C11orf30 56946 broad.mit.edu 37 11 76183611 76183611 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:76183611A>T ENST00000529032.1 + 7 835 c.835A>T c.(835-837)Att>Ttt p.I279F C11orf30_ENST00000533248.1_Missense_Mutation_p.I293F|C11orf30_ENST00000525038.1_Missense_Mutation_p.I294F|C11orf30_ENST00000524767.1_Missense_Mutation_p.I294F|C11orf30_ENST00000524490.1_Missense_Mutation_p.I280F|C11orf30_ENST00000525919.1_Missense_Mutation_p.I280F|C11orf30_ENST00000343878.3_Missense_Mutation_p.I279F|C11orf30_ENST00000334736.3_Missense_Mutation_p.I279F Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 279 Interaction with BRCA2. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 TCCTTAGGTTATTATAGTCAC 0.333000 6 275 0 0 1 0 0 TXNIP 10628 broad.mit.edu 37 1 145440676 145440676 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:145440676G>A ENST00000369317.4 + 6 1210 c.876G>A c.(874-876)ctG>ctA p.L292L TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 292 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCCTTGACCTGCCCCTGGTAA 0.498000 8 116 0 0 1 0 0 KLHL14 57565 broad.mit.edu 37 18 30350146 30350146 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:30350146G>T ENST00000359358.4 - 2 847 c.409C>A c.(409-411)Ctg>Atg p.L137M KLHL14_ENST00000358095.4_Missense_Mutation_p.L137M|AC012123.1_ENST00000426194.1_Intron NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 137 BTB. cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 TCGAGCACCAGGCGCAGCCCG 0.657000 4 136 0.000602214 0.000662999 1 1 0 DPP6 1804 broad.mit.edu 37 7 154379606 154379606 + Missense_Mutation SNP G G T rs147606989 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:154379606G>T ENST00000406326.1 + 6 1277 c.874G>T c.(874-876)Gat>Tat p.D292Y DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron P42658 DPP6_HUMAN dipeptidyl-peptidase 6 0 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CTGGCTGGAGGATTGCAGGAG 0.562000 32 1050 1.36565e-18 1.77957e-18 1 1 0 MMS22L 253714 broad.mit.edu 37 6 97599721 97599721 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:97599721G>T ENST00000275053.4 - 23 3673 c.3408C>A c.(3406-3408)aaC>aaA p.N1136K MMS22L_ENST00000369251.2_Missense_Mutation_p.N1096K NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 1136 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 TGTATTGCAGGTTCTCTGTGG 0.438000 150 376 1.06673e-69 1.468e-69 1 1 0 GSTCD 79807 broad.mit.edu 37 4 106640215 106640215 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:106640215A>T ENST00000515279.1 + 3 646 c.e3-1 GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000507281.1_Splice_Site|GSTCD_ENST00000360505.5_Splice_Site|GSTCD_ENST00000394728.3_Splice_Site|GSTCD_ENST00000394730.3_Splice_Site Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain containing cytoplasm rRNA methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) TTTGTTTTGTAGGTTAGTCAG 0.338000 5 202 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10445694 10445694 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:10445694A>T ENST00000326756.3 - 3 2697 c.2259T>A c.(2257-2259)aaT>aaA p.N753K NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 753 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 TGGTTTTCCTATTACTGCCAT 0.453000 6 472 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20089935 20089935 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:20089935G>A ENST00000396085.1 + 22 5335 c.4974G>A c.(4972-4974)ctG>ctA p.L1658L NAV2_ENST00000349880.4_Silent_p.L1658L|NAV2_ENST00000527559.2_Silent_p.L1643L|NAV2_ENST00000533917.1_Silent_p.L722L|NAV2_ENST00000540292.1_Silent_p.L1645L|NAV2_ENST00000396087.3_Silent_p.L1714L|NAV2_ENST00000360655.4_Silent_p.L1594L|NAV2_ENST00000311043.8_Silent_p.L722L NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1714 Ser-rich. 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 CCACCCAGCTGACAGCAAATG 0.512000 15 84 0 0 1 0 0 ZNF148 7707 broad.mit.edu 37 3 124952163 124952163 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:124952163C>A ENST00000360647.4 - 9 1892 c.1407G>T c.(1405-1407)caG>caT p.Q469H ZNF148_ENST00000484491.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000492394.1_Missense_Mutation_p.Q469H|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 469 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 TCTTCAAAAACTGCATGGCAT 0.443000 13 304 1.49906e-05 1.72114e-05 1 1 0 KANK1 23189 broad.mit.edu 37 9 738458 738458 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:738458C>T ENST00000382303.1 + 12 4159 c.3507C>T c.(3505-3507)agC>agT p.S1169S KANK1_ENST00000382293.3_Silent_p.S1011S|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.S1169S NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1169 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCCATTACAGCGTGTCCCACT 0.527000 6 899 0 0 1 0 0 RARB 5915 broad.mit.edu 37 3 25611305 25611305 + Nonsense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:25611305G>T ENST00000330688.4 + 4 926 c.505G>T c.(505-507)Gag>Tag p.E169* RARB_ENST00000404969.1_Nonsense_Mutation_p.E176*|RARB_ENST00000437042.2_Nonsense_Mutation_p.E57*|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Nonsense_Mutation_p.E57* NM_000965.3 NP_000956.2 P10826 RARB_HUMAN retinoic acid receptor, beta 176 Hinge. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) AGAATGCACAGAGAGCTATGA 0.488000 5 80 1.23904e-05 1.42538e-05 1 1 0 ZP2 7783 broad.mit.edu 37 16 21209092 21209092 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:21209092G>A ENST00000574002.1 - 19 2572 c.2090C>T c.(2089-2091)tCa>tTa p.S697L ZP2_ENST00000219593.4_Missense_Mutation_p.S697L|ZP2_ENST00000574091.1_Missense_Mutation_p.S688L|AF001550.7_ENST00000572747.1_RNA Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 697 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) CTTACCTCGTGAGCCAACCTC 0.473000 9 518 0 0 1 0 0 IL32 9235 broad.mit.edu 37 16 3119294 3119294 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:3119294C>A ENST00000525643.2 + 7 837 c.505C>A c.(505-507)Cca>Aca p.P169T IL32_ENST00000548246.1_Missense_Mutation_p.P129T|IL32_ENST00000530890.1_Missense_Mutation_p.P149T|IL32_ENST00000530538.2_Missense_Mutation_p.P169T|IL32_ENST00000548476.1_Missense_Mutation_p.P215T|IL32_ENST00000396890.2_Missense_Mutation_p.P215T|IL32_ENST00000529699.1_Missense_Mutation_p.P149T|IL32_ENST00000526464.2_Missense_Mutation_p.P169T|IL32_ENST00000552664.1_Missense_Mutation_p.P169T|IL32_ENST00000325568.5_Missense_Mutation_p.P169T|IL32_ENST00000531965.1_Missense_Mutation_p.P159T|IL32_ENST00000533097.2_Missense_Mutation_p.P169T|IL32_ENST00000551122.1_Missense_Mutation_p.P112T|IL32_ENST00000396887.3_Missense_Mutation_p.P112T|IL32_ENST00000548652.1_Missense_Mutation_p.P160T|IL32_ENST00000534507.1_Missense_Mutation_p.P215T|IL32_ENST00000552936.1_Missense_Mutation_p.P193T|IL32_ENST00000528163.2_Missense_Mutation_p.P169T|IL32_ENST00000008180.9_Missense_Mutation_p.P149T|IL32_ENST00000551513.1_Missense_Mutation_p.P206T|IL32_ENST00000529550.1_Missense_Mutation_p.P169T|IL32_ENST00000552356.1_Missense_Mutation_p.P149T|IL32_ENST00000440815.3_Missense_Mutation_p.P169T|IL32_ENST00000382213.3_Missense_Mutation_p.P160T|IL32_ENST00000444393.3_Missense_Mutation_p.P169T|IL32_ENST00000549213.1_Missense_Mutation_p.P112T P24001 IL32_HUMAN interleukin 32 215 cell adhesion|defense response|immune response extracellular space cytokine activity p.P169T(1) breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CTACGGAGCCCCACGGGGGGA 0.582000 3 63 0.184627 0.188467 1 1 0 IQCH 64799 broad.mit.edu 37 15 67677314 67677314 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:67677314C>T ENST00000335894.4 + 11 1479 c.1413C>T c.(1411-1413)aaC>aaT p.N471N IQCH_ENST00000546225.1_Silent_p.N219N|IQCH_ENST00000358767.3_Silent_p.N298N|IQCH_ENST00000360277.4_Silent_p.N223N NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 471 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CCGATTTCAACACACAGCAGA 0.418000 4 245 0 0 1 0 0 MED17 9440 broad.mit.edu 37 11 93542882 93542882 + Splice_Site SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:93542882G>T ENST00000251871.3 + 11 1871 c.e11-1 MED17_ENST00000533367.1_Splice_Site NM_004268.4 NP_004259.3 Q9NVC6 MED17_HUMAN mediator complex subunit 17 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(2)|lung(11)|ovary(1) 14 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTCATTCACAGATGTCACAGC 0.463000 11 153 1.08611e-07 1.2976e-07 1 1 0 CNOT7 29883 broad.mit.edu 37 8 17102635 17102635 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:17102635G>T ENST00000361272.4 - 2 325 c.27C>A c.(25-27)agC>agA p.S9R CNOT7_ENST00000523917.1_Missense_Mutation_p.S9R|CNOT7_ENST00000518885.1_5'UTR NM_013354.5 NP_037486.2 Q9UIV1 CNOT7_HUMAN CCR4-NOT transcription complex, subunit 7 9 carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6) 11 Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209) AAATTCTTTGGCTATGATCTA 0.383000 14 83 3.45872e-05 3.9404e-05 1 1 0 CEACAM8 1088 broad.mit.edu 37 19 43098946 43098946 + Missense_Mutation SNP C C T rs143763173 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:43098946C>T ENST00000244336.5 - 1 136 c.35G>A c.(34-36)cGc>cAc p.R12H LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 12 immune response anchored to membrane|extracellular space|integral to plasma membrane endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) CCAGGGGATGCGCCATCTGCA 0.612000 6 726 0 0 1 0 0 CYP2R1 120227 broad.mit.edu 37 11 14900719 14900719 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:14900719C>A ENST00000532378.1 - 5 1426 c.572G>T c.(571-573)cGa>cTa p.R191L CYP2R1_ENST00000334636.5_Missense_Mutation_p.R424L Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, polypeptide 1 424 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) GTCCAGAAATCGCTCAGGATG 0.403000 61 255 3.28615e-30 4.39897e-30 1 1 0 HUWE1 10075 broad.mit.edu 37 X 53560368 53560368 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:53560368T>A ENST00000342160.3 - 83 13484 c.13027A>T c.(13027-13029)Aat>Tat p.N4343Y HUWE1_ENST00000262854.6_Missense_Mutation_p.N4343Y Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4343 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TCCAGCTGATTAAAACTAAGG 0.507000 5 163 0 0 1 0 0 SLC35B4 84912 broad.mit.edu 37 7 133985015 133985015 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:133985015T>A ENST00000378509.4 - 7 787 c.e7-2 NM_032826.4 NP_116215.1 Q969S0 S35B4_HUMAN solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4 Golgi membrane|integral to membrane UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity large_intestine(1)|lung(2)|skin(1)|stomach(1) 5 CCCCAATACCTAAAAAACAAA 0.378000 7 250 0 0 1 0 0 SST 6750 broad.mit.edu 37 3 187386955 187386955 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:187386955C>T ENST00000287641.3 - 2 356 c.249G>A c.(247-249)agG>agA p.R83R NM_001048.3 NP_001039.1 P61278 SMS_HUMAN somatostatin 83 digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission extracellular space hormone activity kidney(1)|large_intestine(1)|lung(6)|pancreas(1) 9 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.00444) Bromocriptine(DB01200)|Cysteamine(DB00847) GCAGCTCAAGCCTCATTTCAT 0.517000 11 1405 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 57013287 57013287 + Nonsense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:57013287G>T ENST00000370706.4 + 10 2648 c.2404G>T c.(2404-2406)Gag>Tag p.E802* RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.E802*|RP11-203B9.4_ENST00000592500.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.E802*|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 802 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TCATGATCCTGAGAGTGCACA 0.423000 3 63 0.004672 0.0050124 1 1 0 GRIA1 2890 broad.mit.edu 37 5 153190646 153190646 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:153190646G>A ENST00000285900.5 + 16 2925 c.2582G>A c.(2581-2583)cGc>cAc p.R861H GRIA1_ENST00000340592.5_Missense_Mutation_p.R861H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R781H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R871H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R792H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R871H NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 861 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 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding 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) ACCCTCCCCCGCAACAGCGGG 0.592000 9 29 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107050819 107050819 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:107050819C>A ENST00000409886.3 - 15 2157 c.2070G>T c.(2068-2070)agG>agT p.R690S RGPD3_ENST00000304514.7_Missense_Mutation_p.R690S NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 690 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CTTCTGCCTTCCTGTGAAAAA 0.368000 5 60 0.248553 0.251975 1 1 0 DGKI 9162 broad.mit.edu 37 7 137237231 137237231 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:137237231C>T ENST00000453654.1 - 20 1670 c.1131G>A c.(1129-1131)atG>atA p.M377I DGKI_ENST00000424189.2_Missense_Mutation_p.M677I|DGKI_ENST00000446122.1_Missense_Mutation_p.M677I|DGKI_ENST00000288490.5_Missense_Mutation_p.M677I O75912 DGKI_HUMAN diacylglycerol kinase, iota 677 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CATCCACTTGCATGGGGATGG 0.517000 8 821 0 0 1 0 0 FAM122C 159091 broad.mit.edu 37 X 133948805 133948805 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:133948805A>T ENST00000414371.2 + 4 396 c.223A>T c.(223-225)Aat>Tat p.N75Y FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39Y|FAM122C_ENST00000370784.4_Missense_Mutation_p.N39Y NM_001170780.1|NM_001170784.1 NP_001164251.1|NP_001164255.1 Q6P4D5 F222C_HUMAN family with sequence similarity 122C 39 endometrium(2)|kidney(1)|lung(2) 5 Acute lymphoblastic leukemia(192;0.000127) TTTTAGTTTTAATTCACAGGT 0.343000 10 109 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24854824 24854824 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:24854824T>A ENST00000313367.2 - 19 2479 c.e19-2 OSBPL3_ENST00000409069.1_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000352860.1_Splice_Site NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TCCCCAAAACTAAAAAGAAGG 0.378000 12 215 0 0 1 0 0 TMTC4 84899 broad.mit.edu 37 13 101294527 101294527 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr13:101294527G>T ENST00000342624.5 - 7 937 c.679C>A c.(679-681)Ctg>Atg p.L227M TMTC4_ENST00000328767.5_Missense_Mutation_p.L97M|TMTC4_ENST00000376234.3_Missense_Mutation_p.L208M|TMTC4_ENST00000462211.1_5'UTR NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 208 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ATACTCAGCAGCACCCAGAAG 0.502000 40 152 4.45467e-35 6.01789e-35 1 1 0 SOGA2 23255 broad.mit.edu 37 18 8825455 8825455 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:8825455C>A ENST00000359865.3 + 15 4089 c.3947C>A c.(3946-3948)aCg>aAg p.T1316K SOGA2_ENST00000518815.1_Missense_Mutation_p.T641K|SOGA2_ENST00000306285.7_Missense_Mutation_p.T641K|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1275K|SOGA2_ENST00000517570.1_Missense_Mutation_p.T1275K|SOGA2_ENST00000306329.11_Missense_Mutation_p.T1635K NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1626 GGGTCCCGGACGATGGGGACC 0.612000 5 26 0.0215528 0.0225882 1 1 0 MAP3K13 9175 broad.mit.edu 37 3 185198109 185198109 + Missense_Mutation SNP G G C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:185198109G>C ENST00000265026.3 + 13 2925 c.2591G>C c.(2590-2592)aGt>aCt p.S864T TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000446828.1_Missense_Mutation_p.S657T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S864T NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 864 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GGAAATACCAGTGACCACTCA 0.488000 4 130 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4471128 4471128 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:4471128G>A ENST00000325719.4 + 1 604 c.559G>A c.(559-561)Gtg>Atg p.V187M NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 187 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) CATGGCTGTGGTGAGGCTGGC 0.522000 5 400 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48511107 48511107 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:48511107A>T ENST00000446524.1 + 1 839 c.763A>T c.(763-765)Atg>Ttg p.M255L NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TTGTATTTTTATGTATGCTAG 0.428000 10 957 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152081372 152081372 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:152081372G>A ENST00000368804.1 - 2 4320 c.4321C>T c.(4321-4323)Cgc>Tgc p.R1441C NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1441 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTTCCTGGCGGCGCACCTGC 0.577000 OREG0031687 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 4 120 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 45000995 45000995 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:45000995C>T ENST00000429094.2 - 15 2124 c.1620G>A c.(1618-1620)gtG>gtA p.V540V NELL2_ENST00000437801.2_Silent_p.V590V|NELL2_ENST00000395487.2_Silent_p.V539V|NELL2_ENST00000452445.2_Silent_p.V540V|NELL2_ENST00000333837.4_Silent_p.V563V|NELL2_ENST00000551601.1_Silent_p.V539V|NELL2_ENST00000549027.1_Silent_p.V539V NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 540 EGF-like 4. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) GGCAGGCACACACATTAGCGG 0.383000 23 71 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110535099 110535099 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:110535099G>T ENST00000378402.5 + 75 12414 c.12310G>T c.(12310-12312)Gta>Tta p.V4104L NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 4104 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GCAGCCTTCGGTAAAGGCAAC 0.458000 HNSCC(38;0.096) 11 69 3.99206e-14 5.11157e-14 1 1 0 SCN11A 11280 broad.mit.edu 37 3 38941494 38941494 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:38941494C>T ENST00000302328.3 - 13 2111 c.1913G>A c.(1912-1914)cGc>cAc p.R638H SCN11A_ENST00000444237.2_Missense_Mutation_p.R638H|SCN11A_ENST00000456224.3_Missense_Mutation_p.R638H|SCN11A_ENST00000450244.1_Missense_Mutation_p.R638H NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 638 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CCAGCCTCGGCGAAAGTAGTG 0.423000 4 183 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 124097418 124097418 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:124097418C>T ENST00000422452.2 - 1 248 c.185G>A c.(184-186)aGa>aAa p.R62K TENM1_ENST00000371130.3_Missense_Mutation_p.R62K NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TTTCCTCTTTCTACTCTGGCT 0.368000 5 321 0 0 1 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110032907 110032907 + Silent SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:110032907G>T ENST00000369870.3 + 9 1266 c.1251G>T c.(1249-1251)ggG>ggT p.G417G NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 417 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) GCACCTTTGGGAGCCGGCTGG 0.597000 OREG0013635 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 61 2.0095e-06 2.36719e-06 1 1 0 NUP188 23511 broad.mit.edu 37 9 131733230 131733230 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:131733230G>T ENST00000372577.2 + 11 1127 c.1106G>T c.(1105-1107)gGa>gTa p.G369V NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 369 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GCCAGTGGGGGAAATGATGTG 0.488000 19 377 3.62473e-10 4.48523e-10 1 1 0 FYB 2533 broad.mit.edu 37 5 39153708 39153708 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:39153708T>A ENST00000351578.6 - 3 1326 c.e3-2 FYB_ENST00000512982.1_Splice_Site|FYB_ENST00000540520.1_Splice_Site|FYB_ENST00000505428.1_Splice_Site|FYB_ENST00000515010.1_Splice_Site NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding 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) TGCTAGTACCTAAGAAGCAAA 0.423000 5 168 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90128381 90128381 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:90128381T>C ENST00000407825.1 - 7 849 c.212A>G c.(211-213)gAg>gGg p.E71G PRDM7_ENST00000449207.2_Missense_Mutation_p.E277G|PRDM7_ENST00000325921.6_Missense_Mutation_p.E71G Q9NQW5 PRDM7_HUMAN PR domain containing 7 277 KRAB-related. chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) AATTCGGCCCTCATAGGGGCC 0.557000 5 669 0 0 1 0 0 VSIG4 11326 broad.mit.edu 37 X 65253426 65253426 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:65253426C>A ENST00000455586.2 - 2 428 c.302G>T c.(301-303)aGc>aTc p.S101I VSIG4_ENST00000412866.2_Missense_Mutation_p.S101I|VSIG4_ENST00000374737.4_Missense_Mutation_p.S101I NM_001184830.1 NP_001171759.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 101 Ig-like 1. complement activation, alternative pathway integral to membrane protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTCCAGGGTGCTCAATTGGAG 0.532000 8 408 1.76689e-08 2.12822e-08 1 1 0 PRC1 9055 broad.mit.edu 37 15 91517866 91517866 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:91517866T>C ENST00000361188.5 - 10 2510 c.1299A>G c.(1297-1299)gcA>gcG p.A433A PRC1_ENST00000442656.2_Silent_p.A392A|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Silent_p.A433A|PRC1_ENST00000361919.3_Silent_p.A433A O43663 PRC1_HUMAN protein regulator of cytokinesis 1 433 Spectrin-fold. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) CCCATTGTTCTGCCACATACT 0.433000 33 4648 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962726 69962726 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:69962726T>C ENST00000305231.7 + 1 534 c.488T>C c.(487-489)cTa>cCa p.L163P UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.L163P NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 163 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 CTGGCTGAGCTATTTAACATA 0.383000 36 351 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26809327 26809327 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:26809327G>T ENST00000381340.3 - 19 2763 c.2347C>A c.(2347-2349)Ctc>Atc p.L783I NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 783 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TGCATGTGGAGCATGAGGCGA 0.552000 10 361 9.70103e-10 1.19538e-09 1 1 0 MLLT4 4301 broad.mit.edu 37 6 168289893 168289893 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:168289893A>T ENST00000366806.2 + 7 1039 c.e7-1 MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000447894.2_Splice_Site|MLLT4_ENST00000392112.1_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TTGTTTTTTTAGGTTATGCTT 0.328000 T MLL AL 6 63 0 0 1 0 0 GCLC 2729 broad.mit.edu 37 6 53364920 53364920 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:53364920A>G ENST00000229416.6 - 15 2108 c.1625T>C c.(1624-1626)cTt>cCt p.L542P NM_001197115.1|NM_001498.3 NP_001184044.1|NP_001489.1 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 542 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) CATGTTTTCAAGGTAAGAGTT 0.428000 5 436 0 0 1 0 0 C11orf53 341032 broad.mit.edu 37 11 111154999 111154999 + Missense_Mutation SNP G G A rs146857088 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:111154999G>A ENST00000280325.4 + 3 353 c.206G>A c.(205-207)cGg>cAg p.R69Q NM_198498.1 NP_940900.1 Q8IXP5 CK053_HUMAN chromosome 11 open reading frame 53 69 endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) GGAGACTACCGGCCTCCGGCG 0.692000 4 201 0 0 1 0 0 MBD6 114785 broad.mit.edu 37 12 57920900 57920900 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:57920900G>T ENST00000355673.3 + 7 2328 c.1972G>T c.(1972-1974)Gac>Tac p.D658Y MBD6_ENST00000431731.2_Missense_Mutation_p.D658Y NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 658 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 AGGCTTGGGAGACCTGTCCCC 0.637000 7 15 6.5536e-12 8.28341e-12 1 1 0 NSA2 10412 broad.mit.edu 37 5 74065165 74065165 + Silent SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:74065165T>A ENST00000296802.5 + 3 687 c.318T>A c.(316-318)atT>atA p.I106I NSA2_ENST00000513356.1_3'UTR NM_014886.3 NP_055701.1 O95478 NSA2_HUMAN NSA2 ribosome biogenesis homolog (S. cerevisiae) 106 Lys-rich. rRNA processing nucleolus|ribonucleoprotein complex breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1) 7 CCAATATGATTAAACAGAAAA 0.373000 8 439 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38595825 38595825 + Nonsense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:38595825G>T ENST00000413689.1 - 27 4951 c.4758C>A c.(4756-4758)taC>taA p.Y1586* SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.Y1568*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.Y1585*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.Y1586*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.Y1568*|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.Y1585* NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1586 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) TGTTGGTGAAGTAGTAGTGGC 0.532000 50 425 7.34454e-26 9.69941e-26 1 1 0 CLEC12B 387837 broad.mit.edu 37 12 10168295 10168295 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:10168295T>C ENST00000396502.1 + 5 777 c.649T>C c.(649-651)Tgg>Cgg p.W217R RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Missense_Mutation_p.W217R NM_205852.2 NP_995324.2 Q2HXU8 CL12B_HUMAN C-type lectin domain family 12, member B 217 C-type lectin. integral to membrane|plasma membrane receptor activity|sugar binding central_nervous_system(2)|large_intestine(2)|lung(5) 9 AAGTTGGTTCTGGGAAGATGG 0.418000 4 261 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24881964 24881964 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:24881964A>G ENST00000313367.2 - 13 1786 c.1335T>C c.(1333-1335)acT>acC p.T445T OSBPL3_ENST00000409069.1_Silent_p.T378T|OSBPL3_ENST00000396431.1_Silent_p.T414T|OSBPL3_ENST00000431825.2_Silent_p.T378T|OSBPL3_ENST00000396429.1_Silent_p.T409T|OSBPL3_ENST00000353930.1_Silent_p.T409T|OSBPL3_ENST00000352860.1_Silent_p.T414T NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 445 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 AAAGGGAGTCAGTGATGGAGA 0.383000 9 662 0 0 1 0 0 KAZALD1 81621 broad.mit.edu 37 10 102824601 102824601 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:102824601G>A ENST00000370200.5 + 5 1165 c.839G>A c.(838-840)gGc>gAc p.G280D NM_030929.4 NP_112191.2 Q96I82 KAZD1_HUMAN Kazal-type serine peptidase inhibitor domain 1 280 cell differentiation|multicellular organismal development|ossification|regulation of cell growth insulin-like growth factor binding p.G280D(1) endometrium(1)|ovary(1)|prostate(2) 4 Epithelial(162;6.21e-09)|all cancers(201;3.14e-07) AACTCTACAGGCATCCCCCAG 0.557000 5 626 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139369159 139369159 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:139369159G>A ENST00000313050.7 - 1 2982 c.2909C>T c.(2908-2910)gCa>gTa p.A970V SEC16A_ENST00000431893.2_Missense_Mutation_p.A792V|SEC16A_ENST00000371706.3_Missense_Mutation_p.A792V|SEC16A_ENST00000290037.6_Missense_Mutation_p.A792V NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 792 Pro-rich.|Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GGTGCCGTGTGCAGGTGGAAC 0.493000 19 17 0 0 1 0 0 TADA1 117143 broad.mit.edu 37 1 166829540 166829540 + Nonsense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:166829540G>T ENST00000367874.4 - 6 668 c.575C>A c.(574-576)tCa>tAa p.S192* TADA1_ENST00000467021.1_5'UTR NM_053053.3 NP_444281.1 Q96BN2 TADA1_HUMAN transcriptional adaptor 1 192 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 11 TTTCCTTCTTGACACAACTGA 0.368000 12 92 2.61681e-11 3.27937e-11 1 1 0 SYTL2 54843 broad.mit.edu 37 11 85468686 85468686 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:85468686G>A ENST00000316356.4 - 2 647 c.83C>T c.(82-84)gCc>gTc p.A28V SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000389960.4_Missense_Mutation_p.A28V|SYTL2_ENST00000528231.1_Missense_Mutation_p.A28V|SYTL2_ENST00000524452.1_Missense_Mutation_p.A28V Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 28 RabBD. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CTCTTCTTCGGCCCTCTTCAG 0.478000 12 1018 0 0 1 0 0 FZD2 2535 broad.mit.edu 37 17 42636336 42636336 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:42636336G>A ENST00000315323.3 + 1 1412 c.1280G>A c.(1279-1281)gGc>gAc p.G427D NM_001466.3 NP_001457.1 Q14332 FZD2_HUMAN frizzled family receptor 2 427 axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.G427D(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CTGTTCATCGGCACGTCCTTC 0.642000 3 68 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028864 37028864 + Missense_Mutation SNP G G T rs147158965 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:37028864G>T ENST00000358047.3 + 1 2433 c.2381G>T c.(2380-2382)cGt>cTt p.R794L NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 794 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 CCCAAGACTCGTCGAGTGTCC 0.622000 6 64 3.35478e-16 4.34278e-16 1 1 0 SLC7A9 11136 broad.mit.edu 37 19 33355682 33355682 + Splice_Site SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:33355682G>A ENST00000023064.4 - 3 279 c.87_splice c.e3-1 p.L30_splice SLC7A9_ENST00000590341.1_Splice_Site_p.L30_splice|SLC7A9_ENST00000587772.1_Splice_Site_p.L30_splice NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 30 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) ATGAGGCCCAGCTGGGTGTGG 0.647000 6 286 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113532655 113532655 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:113532655A>G ENST00000257600.3 + 6 1792 c.1289A>G c.(1288-1290)cAc>cGc p.H430R DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 430 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GTGCTTCGGCACAAGGGCGTG 0.652000 8 137 0 0 1 0 0 PSPC1 55269 broad.mit.edu 37 13 20346399 20346399 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr13:20346399C>A ENST00000338910.4 - 2 816 c.657G>T c.(655-657)ggG>ggT p.G219G NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 219 RRM 2.|Sufficient for paraspeckles localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) GCAAGAATGCCCCATCACCAC 0.423000 75 616 6.5209e-17 8.45993e-17 1 1 0 ITGAM 3684 broad.mit.edu 37 16 31282301 31282301 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:31282301G>A ENST00000544665.3 + 6 525 c.454G>A c.(454-456)Gcc>Acc p.A152T ITGAM_ENST00000287497.8_Missense_Mutation_p.A152T NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 152 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 TAGTGACATTGCCTTCTTGAT 0.438000 19 1180 0 0 1 0 0 LIX1 167410 broad.mit.edu 37 5 96460276 96460276 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:96460276G>T ENST00000274382.4 - 2 435 c.140C>A c.(139-141)gCa>gAa p.A47E CTD-2215E18.1_ENST00000509481.1_Intron NM_153234.4 NP_694966.3 Q8N485 LIX1_HUMAN Lix1 homolog (chicken) 47 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1) 10 all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.0733) ACTTGGGAATGCAGCCTTCTG 0.488000 10 270 1.33987e-11 1.68629e-11 1 1 0 MYO7B 4648 broad.mit.edu 37 2 128367240 128367240 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:128367240C>T ENST00000389524.4 + 23 3027 c.2974C>T c.(2974-2976)Cgg>Tgg p.R992W MYO7B_ENST00000428314.1_Missense_Mutation_p.R992W|MYO7B_ENST00000409816.2_Missense_Mutation_p.R992W Q6PIF6 MYO7B_HUMAN myosin VIIB 992 MyTH4 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) ACACATCCGGCGGCCCCTCCG 0.587000 3 54 0 0 1 0 0 DCAF17 80067 broad.mit.edu 37 2 172314880 172314880 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:172314880A>T ENST00000375255.3 + 8 1059 c.e8-1 DCAF17_ENST00000539783.1_Splice_Site|DCAF17_ENST00000468592.1_Intron NM_025000.3 NP_079276.2 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1) 17 TTTTGTTTTTAGTTCATGCAA 0.358000 10 112 0 0 1 0 0 C12orf4 57102 broad.mit.edu 37 12 4628042 4628042 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:4628042C>A ENST00000261250.3 - 7 820 c.733G>T c.(733-735)Gaa>Taa p.E245* C12orf4_ENST00000545746.1_Nonsense_Mutation_p.E245* NM_020374.2 NP_065107.1 Q9NQ89 CL004_HUMAN chromosome 12 open reading frame 4 245 E -> G (in Ref. 2; CAE46058). NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) ACTTTAATTTCCTCACTAAAA 0.299000 9 35 0.335167 0.337459 1 1 0 GUF1 60558 broad.mit.edu 37 4 44696433 44696433 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:44696433G>T ENST00000281543.5 + 14 1812 c.1618G>T c.(1618-1620)Gat>Tat p.D540Y GUF1_ENST00000506793.1_3'UTR NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 540 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 TTTTAGTTTTGATTACGAAGA 0.343000 4 44 2.56e-06 3.00367e-06 1 1 0 YTHDF2 51441 broad.mit.edu 37 1 29069235 29069235 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:29069235C>G ENST00000373812.3 + 4 815 c.453C>G c.(451-453)agC>agG p.S151R YTHDF2_ENST00000541996.1_Missense_Mutation_p.S101R|YTHDF2_ENST00000542507.1_Missense_Mutation_p.S151R|YTHDF2_ENST00000478283.1_3'UTR NM_016258.2 NP_057342.2 Q9Y5A9 YTHD2_HUMAN YTH domain family, member 2 151 humoral immune response NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) GATATAGTAGCAATTATGCTT 0.448000 203 129 0 0 1 0 0 PRTFDC1 56952 broad.mit.edu 37 10 25138782 25138782 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:25138782A>G ENST00000320152.6 - 9 697 c.669T>C c.(667-669)taT>taC p.Y223Y PRTFDC1_ENST00000376378.1_3'UTR NM_020200.5 NP_064585.1 Q9NRG1 PRDC1_HUMAN phosphoribosyl transferase domain containing 1 223 adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 TTTAGACTCGATATTTTTCTT 0.398000 4 335 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171394541 171394541 + Nonsense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:171394541C>T ENST00000342215.6 - 16 1866 c.1751G>A c.(1750-1752)tGg>tAg p.W584* PLD1_ENST00000351298.4_Silent_p.V693V|PLD1_ENST00000340989.4_Silent_p.V693V|PLD1_ENST00000356327.5_Silent_p.V655V Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 0 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) AGTGACGTGCCACATCACGAG 0.542000 53 512 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48523234 48523234 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:48523234T>A ENST00000537810.1 - 55 8126 c.e55-2 FRYL_ENST00000507873.2_Splice_Site|FRYL_ENST00000503238.1_Splice_Site|FRYL_ENST00000358350.4_Splice_Site|FRYL_ENST00000264319.7_Splice_Site O94915 FRYL_HUMAN FRY-like regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 ACTGTTTAACTAAAAAGAGAA 0.373000 13 210 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154379738 154379738 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:154379738C>T ENST00000406326.1 + 6 1409 c.1006C>T c.(1006-1008)Ccg>Tcg p.P336S DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron P42658 DPP6_HUMAN dipeptidyl-peptidase 6 0 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TCTGCTCACCCCGGGGATAAT 0.592000 6 951 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113169185 113169185 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:113169185G>A ENST00000295872.4 - 15 2580 c.2321C>T c.(2320-2322)aCt>aTt p.T774I NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 774 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 TGACCAACCAGTCCATGCTCT 0.373000 4 128 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65955683 65955683 + Silent SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:65955683T>A ENST00000321892.4 + 26 8392 c.8331T>A c.(8329-8331)atT>atA p.I2777I BPTF_ENST00000424123.3_Silent_p.I2495I|BPTF_ENST00000306378.6_Silent_p.I2651I|BPTF_ENST00000335221.5_Silent_p.I2634I Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2777 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) ACCTGAAAATTAAGAAAGAAA 0.488000 5 115 0 0 1 0 0 OR52N5 390075 broad.mit.edu 37 11 5799370 5799370 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:5799370C>A ENST00000317093.2 - 1 527 c.495G>T c.(493-495)atG>atT p.M165I TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) GGAAAGGAATCATCAGCAATA 0.463000 5 347 0.0215528 0.0225882 1 1 0 STAT6 6778 broad.mit.edu 37 12 57500503 57500503 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:57500503G>T ENST00000300134.3 - 5 776 c.451C>A c.(451-453)Ctg>Atg p.L151M STAT6_ENST00000454075.3_Missense_Mutation_p.L151M|STAT6_ENST00000543873.2_Missense_Mutation_p.L151M|STAT6_ENST00000538913.2_Missense_Mutation_p.L41M|STAT6_ENST00000537215.2_Missense_Mutation_p.L41M|STAT6_ENST00000556155.1_Missense_Mutation_p.L151M NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced 151 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 CCCTTCTGCAGGGCTTCTCGG 0.577000 38 386 1.69475e-38 2.30002e-38 1 1 0 POC1B 282809 broad.mit.edu 37 12 89890946 89890946 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:89890946A>T ENST00000313546.3 - 3 401 c.e3+1 POC1B_ENST00000378528.2_Splice_Site|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Splice_Site|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000541909.1_Intron NM_172240.2 NP_758440.1 POC1 centriolar protein B endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 14 TGTTTCTCTTACTTATCAGGA 0.453000 6 156 0 0 1 0 0 ZNF17 7565 broad.mit.edu 37 19 57932141 57932141 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:57932141C>T ENST00000307658.7 + 4 1550 c.1287C>T c.(1285-1287)tcC>tcT p.S429S AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Silent_p.S427S P17021 ZNF17_HUMAN zinc finger protein 17 427 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) TGGACACTTCCACACTCATTA 0.383000 4 165 0 0 1 0 0 TANGO6 79613 broad.mit.edu 37 16 68961602 68961602 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:68961602C>A ENST00000261778.1 + 13 2271 c.2259C>A c.(2257-2259)gcC>gcA p.A753A RP11-521L9.1_ENST00000562790.1_lincRNA NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) CCCATGGAGCCTTTGCCACTG 0.493000 62 351 9.12251e-31 1.22395e-30 1 1 0 OR8U1 219417 broad.mit.edu 37 11 56143231 56143231 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:56143231T>C ENST00000302270.1 + 1 132 c.132T>C c.(130-132)ggT>ggC p.G44G NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) GCAACTTGGGTTTGATCCTAC 0.423000 5 730 0 0 1 0 0 CPA5 93979 broad.mit.edu 37 7 130008311 130008311 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:130008311G>A ENST00000485477.1 + 12 2313 c.1184G>A c.(1183-1185)aGc>aAc p.S395N CPA5_ENST00000393213.3_Missense_Mutation_p.S395N|CPA5_ENST00000355388.3_Missense_Mutation_p.S395N|CPA5_ENST00000466363.2_Missense_Mutation_p.S395N|CPA5_ENST00000474905.1_Missense_Mutation_p.S395N|CPA5_ENST00000461828.1_Missense_Mutation_p.S395N|CPA5_ENST00000431780.2_Missense_Mutation_p.A367T Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 395 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) TACGCCTTCAGCTTTGAGCTC 0.567000 17 151 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089937 9089937 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:9089937T>C ENST00000397910.4 - 1 2081 c.1878A>G c.(1876-1878)ctA>ctG p.L626L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 626 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 CTCTGGTGAGTAGGTGGGTTG 0.577000 6 318 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109688351 109688351 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:109688351G>T ENST00000277225.5 + 3 2447 c.2158G>T c.(2158-2160)Gtt>Ttt p.V720F ZNF462_ENST00000457913.1_Missense_Mutation_p.V720F Q96JM2 ZN462_HUMAN zinc finger protein 462 720 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 AGTGATCAATGTTGAGGATGA 0.463000 53 558 2.78941e-39 3.79437e-39 1 1 0 TG 7038 broad.mit.edu 37 8 133923676 133923676 + Nonsense_Mutation SNP C C T rs114157534 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:133923676C>T ENST00000220616.4 + 19 4097 c.4057C>T c.(4057-4059)Cag>Tag p.Q1353* TG_ENST00000377869.1_Nonsense_Mutation_p.Q1353* NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1353 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTCCTCTGTGCAGGTGGGTTG 0.478000 5 584 0 0 1 0 0 AJUBA 84962 broad.mit.edu 37 14 23445729 23445729 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:23445729T>A ENST00000262713.2 - 4 1552 c.e4-2 AJUBA_ENST00000397388.3_Splice_Site|RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Splice_Site NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding CCCTGAAAACTAAAGTAAAAG 0.453000 15 680 0 0 1 0 0 WDR5B 54554 broad.mit.edu 37 3 122133439 122133439 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:122133439C>T ENST00000330689.4 - 1 1443 c.937G>A c.(937-939)Gca>Aca p.A313T NM_019069.3 NP_061942.2 Q86VZ2 WDR5B_HUMAN WD repeat domain 5B 313 kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.0704) GCTGCTGATGCGATGAGGTTT 0.383000 7 288 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182295 57182295 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:57182295G>T ENST00000504228.1 + 6 2732 c.2627G>T c.(2626-2628)gGa>gTa p.G876V KIAA1211_ENST00000264229.6_Missense_Mutation_p.G876V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.G869V Q6ZU35 K1211_HUMAN KIAA1211 876 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) AGCAGCACCGGAGACAGCGCG 0.572000 5 46 3.59834e-05 4.06798e-05 1 1 0 ATG13 9776 broad.mit.edu 37 11 46690111 46690111 + Missense_Mutation SNP G G C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:46690111G>C ENST00000434074.1 + 14 1904 c.1215G>C c.(1213-1215)gaG>gaC p.E405D ATG13_ENST00000359513.4_Missense_Mutation_p.E405D|ATG13_ENST00000528494.1_Missense_Mutation_p.E438D|ATG13_ENST00000526508.1_Missense_Mutation_p.E405D|ATG13_ENST00000530500.1_Missense_Mutation_p.E289D|ATG13_ENST00000529655.1_Missense_Mutation_p.E368D|ATG13_ENST00000524625.1_Missense_Mutation_p.E368D|ATG13_ENST00000312040.4_Missense_Mutation_p.E405D|ATG13_ENST00000451945.1_Missense_Mutation_p.E368D NM_001205120.1 NP_001192049.1 O75143 ATG13_HUMAN autophagy related 13 405 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 TGGAGCTGGAGGATACCGATC 0.517000 122 93 0 0 1 0 0 KIF23 9493 broad.mit.edu 37 15 69733351 69733351 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:69733351C>A ENST00000260363.4 + 18 2429 c.2312C>A c.(2311-2313)aCt>aAt p.T771N KIF23_ENST00000395392.2_Missense_Mutation_p.T771N|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000352331.4_Intron|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000558585.1_Intron NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 771 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 ATGTACTGGACTGAAGGCAGG 0.468000 12 477 1.62849e-17 2.1174e-17 1 1 0 A2M 2 broad.mit.edu 37 12 9224978 9224978 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:9224978G>T ENST00000318602.7 - 31 4387 c.4080C>A c.(4078-4080)agC>agA p.S1360R NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 1360 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) AGATTTGGAAGCTGGTGTGGG 0.438000 10 446 5.50884e-06 6.42516e-06 1 1 0 USP11 8237 broad.mit.edu 37 X 47103931 47103931 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:47103931G>T ENST00000377107.2 + 14 2179 c.1825G>T c.(1825-1827)Gac>Tac p.D609Y USP11_ENST00000218348.3_Missense_Mutation_p.D652Y P51784 UBP11_HUMAN ubiquitin specific peptidase 11 652 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 AGATGATGAGGACGATGGGGA 0.567000 7 94 5.68852e-11 7.11368e-11 1 1 0 SIRPB2 284759 broad.mit.edu 37 20 1460483 1460483 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:1460483G>A ENST00000359801.3 - 2 349 c.313C>T c.(313-315)Cca>Tca p.P105S SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 105 Ig-like V-type 1. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CAATTCAGTGGTTCTGATGTC 0.453000 5 423 0 0 1 0 0 CPB2 1361 broad.mit.edu 37 13 46632347 46632347 + Nonsense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr13:46632347A>T ENST00000181383.4 - 9 982 c.966T>A c.(964-966)taT>taA p.Y322* CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.Y285*|CPB2-AS1_ENST00000606351.1_RNA NM_001872.3 NP_001863.3 Q96IY4 CBPB2_HUMAN carboxypeptidase B2 (plasma) 322 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) TACTTCGTGTATAGGAATATG 0.338000 14 1764 0 0 1 0 0 PDE4D 5144 broad.mit.edu 37 5 59064302 59064302 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:59064302C>G ENST00000507116.1 - 1 169 c.34G>C c.(34-36)Gta>Cta p.V12L PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.V12L|PDE4D_ENST00000546160.1_Intron NM_001197218.1 NP_001184147.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 0 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) ACTTCAGGTACTGTTAAAGTG 0.517000 4 311 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57484919 57484919 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:57484919G>A ENST00000300131.3 + 2 473 c.95G>A c.(94-96)cGa>cAa p.R32Q NAB2_ENST00000554718.1_Intron|NAB2_ENST00000342556.6_Missense_Mutation_p.R32Q|NAB2_ENST00000357680.4_Missense_Mutation_p.R32Q NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 32 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CCCAGTGCCCGAGCCATGGCA 0.607000 3 73 0 0 1 0 0 IFNB1 3456 broad.mit.edu 37 9 21077375 21077375 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:21077375G>A ENST00000380232.2 - 1 568 c.494C>T c.(493-495)aCc>aTc p.T165I NM_002176.2 NP_002167.1 P01574 IFNB_HUMAN interferon, beta 1, fibroblast 165 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 12 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) TCTGACTATGGTCCAGGCACA 0.468000 5 601 0 0 1 0 0 TRPC4AP 26133 broad.mit.edu 37 20 33590973 33590973 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:33590973T>C ENST00000252015.2 - 19 2459 c.2370A>G c.(2368-2370)atA>atG p.I790M TRPC4AP_ENST00000539834.1_Missense_Mutation_p.I392M|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.I751M|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.I782M Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein 790 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) AGTCCCTGTCTATGTCCATGT 0.597000 3 117 0 0 1 0 0 RRAS2 22800 broad.mit.edu 37 11 14316410 14316410 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:14316410T>A ENST00000545643.1 - 3 528 c.e3-2 RRAS2_ENST00000537760.1_Splice_Site|RRAS2_ENST00000534746.1_Splice_Site|RRAS2_ENST00000414023.2_Splice_Site|RRAS2_ENST00000256196.4_Splice_Site|RRAS2_ENST00000532814.1_Splice_Site|RRAS2_ENST00000526063.1_Splice_Site|RRAS2_ENST00000529237.1_Splice_Site NM_012250.5 NP_036382.2 P62070 RRAS2_HUMAN related RAS viral (r-ras) oncogene homolog 2 endoplasmic reticulum|plasma membrane GTP binding|GTPase activity|protein binding breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 12 Epithelial(150;0.203) TATCCAAAACTAAAGAAAAAA 0.398000 5 76 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371359 109371359 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:109371359A>T ENST00000283195.6 + 16 2328 c.e16-1 NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TTTTATTTTTAGTTGCCTGTG 0.323000 7 479 0 0 1 0 0 FTSJ3 117246 broad.mit.edu 37 17 61897195 61897195 + Silent SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:61897195A>T ENST00000427159.2 - 21 3156 c.2511T>A c.(2509-2511)cgT>cgA p.R837R NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 837 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 TTTGTTCCTTACGTTGCTGTG 0.537000 9 478 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11701058 11701058 + Nonsense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:11701058G>T ENST00000262442.3 + 43 8436 c.8368G>T c.(8368-8370)Gaa>Taa p.E2790* DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E2790* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2790 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GAACCACAATGAAGTCAACAC 0.483000 6 202 1.06961e-07 1.28049e-07 1 1 0 DCDC1 341019 broad.mit.edu 37 11 30974117 30974117 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:30974117T>A ENST00000597505.1 - 19 2591 c.e19-2 DCDC1_ENST00000406071.2_Splice_Site|DCDC1_ENST00000339794.5_Splice_Site|DCDC1_ENST00000437348.1_Intron P59894 DCDC1_HUMAN doublecortin domain containing 1 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) ATGGCCCACCTAAAACAAAAG 0.333000 3 15 0 0 1 0 0 HOOK2 29911 broad.mit.edu 37 19 12883471 12883471 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:12883471G>A ENST00000264827.5 - 6 582 c.412C>T c.(412-414)Ctg>Ttg p.L138L HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Silent_p.L138L NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 138 Required for localization to the centrosome and induction of aggresome formation.|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 centrosome|FHF complex|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 GATTCTTCCAGCGTCATGATT 0.572000 5 742 0 0 1 0 0 RBM43 375287 broad.mit.edu 37 2 152112258 152112258 + Splice_Site SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:152112258C>A ENST00000331426.5 - 2 155 c.e2-1 NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 nucleotide binding|RNA binding endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) AAACTGATGCCTGTAAGAGAA 0.358000 6 58 0.0215528 0.0225882 1 1 0 TSR1 55720 broad.mit.edu 37 17 2227510 2227510 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:2227510G>A ENST00000301364.4 - 15 3474 c.2395C>T c.(2395-2397)Cct>Tct p.P799S SRR_ENST00000344595.5_3'UTR NM_018128.4 NP_060598.3 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 799 ribosome assembly nucleolus protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 CCCCCTTGAGGCACTGTTGAA 0.463000 5 822 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50007990 50007990 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:50007990T>A ENST00000371564.3 - 11 3030 c.e11-2 NFATC2_ENST00000396009.3_Splice_Site|NFATC2_ENST00000414705.1_Splice_Site NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) TTTCATTAACTACAAAAGAAA 0.458000 8 107 0 0 1 0 0 ETV4 2118 broad.mit.edu 37 17 41606987 41606987 + Missense_Mutation SNP C C T rs148198572 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:41606987C>T ENST00000319349.5 - 11 1311 c.1013G>A c.(1012-1014)cGg>cAg p.R338Q ETV4_ENST00000538265.1_Missense_Mutation_p.R299Q|ETV4_ENST00000591713.1_Missense_Mutation_p.R338Q|ETV4_ENST00000586826.1_Missense_Mutation_p.R61Q|ETV4_ENST00000393664.2_Missense_Mutation_p.R338Q|ETV4_ENST00000545954.1_Missense_Mutation_p.R299Q|ETV4_ENST00000545089.1_Missense_Mutation_p.R284Q NM_001079675.2 NP_001073143.1 P43268 ETV4_HUMAN ets variant 4 338 positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2) ovary(2)|upper_aerodigestive_tract(1) 3 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) CAGGGCACCCCGGCGCTGGTA 0.582000 T """EWSR1, TMPRSS2, DDX5, KLK2, CANT1""" """Ewing sarcoma, Prostate carcinoma""" 3 60 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43579536 43579536 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:43579536G>A ENST00000406487.1 - 3 777 c.679C>T c.(679-681)Cgc>Tgc p.R227C NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 227 Ig-like C2-type 1. cell migration|female pregnancy extracellular region p.R227C(1) 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) GGGTCACTGCGGCTGGCACTC 0.527000 8 427 0 0 1 0 0 KIAA1143 57456 broad.mit.edu 37 3 44794950 44794950 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:44794950T>C ENST00000296121.4 - 3 407 c.348A>G c.(346-348)tcA>tcG p.S116S KIAA1143_ENST00000484437.1_5'UTR NM_020696.3 NP_065747.1 Q96AT1 K1143_HUMAN KIAA1143 116 NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582) TCTTCTTTTTTGAGCTTGCTG 0.373000 4 143 0 0 1 0 0 GPN2 54707 broad.mit.edu 37 1 27215502 27215502 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:27215502G>T ENST00000374135.4 - 2 726 c.526C>A c.(526-528)Ctc>Atc p.L176I NM_018066.3 NP_060536.3 Q9H9Y4 GPN2_HUMAN GPN-loop GTPase 2 176 GTP binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 TTGGAAAGGAGGTTGATGTGG 0.537000 4 276 1.23904e-05 1.42538e-05 1 1 0 DLC1 10395 broad.mit.edu 37 8 13251191 13251191 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:13251191T>C ENST00000276297.4 - 4 1594 c.1185A>G c.(1183-1185)tcA>tcG p.S395S DLC1_ENST00000316609.5_Silent_p.S395S|DLC1_ENST00000511869.1_Silent_p.S395S NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 395 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TTTCAGATCCTGATTCCAGAT 0.428000 8 310 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678590 100678590 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:100678590T>C ENST00000306151.4 + 3 3957 c.3893T>C c.(3892-3894)cTt>cCt p.L1298P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1298 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) GCTAGCACCCTTTTAACAACT 0.478000 4 174 0 0 1 0 0 TBC1D20 128637 broad.mit.edu 37 20 419442 419442 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:419442G>T ENST00000354200.4 - 8 1147 c.1000C>A c.(1000-1002)Cag>Aag p.Q334K TBC1D20_ENST00000461188.1_5'UTR NM_144628.2 NP_653229.1 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 334 interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(17;0.228)|Breast(17;0.231) GGCCTCTGCTGGGCTGATGCC 0.547000 6 105 0.000157383 0.000176569 1 1 0 SCN1A 6323 broad.mit.edu 37 2 166900434 166900434 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:166900434G>T ENST00000423058.2 - 11 1805 c.1788C>A c.(1786-1788)agC>agA p.S596R SCN1A_ENST00000409050.1_Missense_Mutation_p.S596R|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S596R|SCN1A_ENST00000303395.4_Missense_Mutation_p.S596R|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 596 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) CCTCAAAGGTGCTGTGCTCAT 0.507000 54 417 1.27862e-28 1.70386e-28 1 1 0 PARP3 10039 broad.mit.edu 37 3 51980200 51980200 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:51980200C>T ENST00000417220.2 + 10 1605 c.1117C>T c.(1117-1119)Cac>Tac p.H373Y PARP3_ENST00000398755.3_Missense_Mutation_p.H380Y|PARP3_ENST00000431474.1_Missense_Mutation_p.H373Y Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 373 PARP catalytic. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) ATTCCAGGCCCACTCCAAACT 0.587000 14 142 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91131958 91131958 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:91131958C>A ENST00000373094.1 + 2 1564 c.719C>A c.(718-720)aCt>aAt p.T240N PCDH11X_ENST00000406881.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T240N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.T240N NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 240 Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GTGAGTGTTACTGATACAAAT 0.428000 4 164 0.00909568 0.0096878 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23509581 23509581 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:23509581C>A ENST00000296682.3 + 3 254 c.72C>A c.(70-72)gtC>gtA p.V24V NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 24 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TCCTCTAGGTCAAAGATGCCT 0.453000 HNSCC(3;0.000094) 5 770 0.27861 0.281478 1 1 0 PEX7 5191 broad.mit.edu 37 6 137191043 137191043 + Missense_Mutation SNP G G A rs121909152 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:137191043G>A ENST00000541292.1 + 7 735 c.649G>A c.(649-651)Ggg>Agg p.G217R PEX7_ENST00000318471.4_Missense_Mutation_p.G217R O00628 PEX7_HUMAN peroxisomal biogenesis factor 7 217 G -> R (in RCDP1; could be a polymorphism). ether lipid biosynthetic process|protein import into peroxisome matrix peroxisome peroxisome matrix targeting signal-2 binding p.G217W(1) lung(7)|prostate(1) 8 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492) GCTGGTGACCGGGGCGGTTGA 0.413000 6 170 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21901549 21901549 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:21901549A>G ENST00000328843.6 + 70 11333 c.11302A>G c.(11302-11304)Atg>Gtg p.M3768V DNAH11_ENST00000409508.3_Missense_Mutation_p.M3761V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3768 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 CTCTATCCTGATGGAGAGCAT 0.517000 Kartagener syndrome 7 456 0 0 1 0 0 SDHAF2 54949 broad.mit.edu 37 11 61205474 61205474 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:61205474A>T ENST00000301761.2 + 3 334 c.e3-1 SDHAF2_ENST00000542074.1_Intron|SDHAF2_ENST00000534878.1_Splice_Site|RP11-286N22.8_ENST00000544880.1_Splice_Site|SDHAF2_ENST00000543265.1_Intron|SDHAF2_ENST00000537782.1_Splice_Site|RP11-286N22.8_ENST00000543044.1_Splice_Site NM_017841.2 NP_060311.1 Q9NX18 SDHF2_HUMAN succinate dehydrogenase complex assembly factor 2 mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage mitochondrion protein binding large_intestine(3)|lung(4)|ovary(2) 9 TCTTGTTTTTAGTCTTTTTGC 0.403000 6 142 0 0 1 0 0 NFIB 4781 broad.mit.edu 37 9 14307284 14307284 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:14307284C>A ENST00000380959.3 - 2 739 c.266G>T c.(265-267)cGa>cTa p.R89L NFIB_ENST00000397579.2_Missense_Mutation_p.R89L|NFIB_ENST00000380934.4_Missense_Mutation_p.R115L|NFIB_ENST00000397581.2_Missense_Mutation_p.R89L|NFIB_ENST00000397575.3_Missense_Mutation_p.R89L|NFIB_ENST00000380921.3_Missense_Mutation_p.R89L|NFIB_ENST00000380953.1_Missense_Mutation_p.R89L NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 89 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) AAAGTCCTCTCGATACTCCTG 0.507000 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 33 620 2.32173e-10 2.87895e-10 1 1 0 ATE1 11101 broad.mit.edu 37 10 123503319 123503319 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:123503319G>A ENST00000369043.3 - 12 1519 c.1433C>T c.(1432-1434)gCc>gTc p.A478V ATE1_ENST00000224652.6_Missense_Mutation_p.A478V|ATE1_ENST00000369040.3_Missense_Mutation_p.A382V|ATE1_ENST00000543447.1_Missense_Mutation_p.A363V|ATE1_ENST00000535655.1_Missense_Mutation_p.A179V|ATE1_ENST00000540606.1_Missense_Mutation_p.A471V NM_007041.2 NP_008972.2 O95260 ATE1_HUMAN arginyltransferase 1 478 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) AGGCATGATGGCTCTCTTGTG 0.478000 4 421 0 0 1 0 0 ITGB7 3695 broad.mit.edu 37 12 53589220 53589220 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:53589220C>A ENST00000267082.5 - 9 1330 c.1099G>T c.(1099-1101)Gca>Tca p.A367S ITGB7_ENST00000422257.3_Missense_Mutation_p.A367S|ITGB7_ENST00000338737.4_Missense_Mutation_p.A367S|ITGB7_ENST00000550743.2_Missense_Mutation_p.A367S NM_000889.1 NP_000880.1 P26010 ITB7_HUMAN integrin, beta 7 367 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCCCCAACTGCAGACTTAGGA 0.542000 11 549 0.0931896 0.0962959 1 1 0 PNPLA6 10908 broad.mit.edu 37 19 7619529 7619529 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:7619529C>T ENST00000221249.6 + 24 2871 c.2440C>T c.(2440-2442)Ccc>Tcc p.P814S PNPLA6_ENST00000600737.1_Missense_Mutation_p.P852S|PNPLA6_ENST00000545201.2_Missense_Mutation_p.P787S|PNPLA6_ENST00000414982.3_Missense_Mutation_p.P862S|PNPLA6_ENST00000450331.3_Missense_Mutation_p.P814S NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 853 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 CTCGCTGACGCCCTGGACCGT 0.667000 6 242 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74279236 74279236 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:74279236G>A ENST00000295897.4 + 8 1032 c.943G>A c.(943-945)Gcc>Acc p.A315T ALB_ENST00000509063.1_Missense_Mutation_p.A315T|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.A200T|ALB_ENST00000503124.1_Missense_Mutation_p.A165T|ALB_ENST00000415165.2_Missense_Mutation_p.A123T NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 315 Albumin 2. 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 antioxidant activity|chaperone binding|copper ion binding|DNA 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) CCACTGCATTGCCGAAGTGGA 0.423000 7 182 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158324168 158324168 + Splice_Site SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:158324168T>C ENST00000368160.3 + 2 60 c.58_splice c.e2-1 p.A20_splice CD1E_ENST00000368155.3_Splice_Site_p.A20_splice|CD1E_ENST00000368167.3_Splice_Site_p.A20_splice|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000434258.1_Splice_Site_p.A18_splice|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368161.3_Splice_Site_p.A20_splice|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Splice_Site_p.A20_splice|CD1E_ENST00000368165.3_Splice_Site_p.A20_splice|CD1E_ENST00000368163.3_Splice_Site_p.A20_splice|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 20 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CTCTCTCAGCTCCCCAGGCTC 0.498000 7 538 0 0 1 0 0 KIF15 56992 broad.mit.edu 37 3 44856401 44856401 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:44856401A>T ENST00000326047.4 + 20 2532 c.e20-1 KIF15_ENST00000425755.1_Splice_Site NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) TTTGTTTTTTAGTTTTGAAAA 0.358000 5 127 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3304364 3304364 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:3304364G>A ENST00000219596.1 - 2 743 c.704C>T c.(703-705)tCg>tTg p.S235L MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 235 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CATCTTTCCCGAGGGCAGGTA 0.627000 12 1018 0 0 1 0 0 SMC2 10592 broad.mit.edu 37 9 106857698 106857698 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:106857698C>A ENST00000286398.7 + 2 321 c.33C>A c.(31-33)ttC>ttA p.F11L SMC2_ENST00000303219.8_Missense_Mutation_p.F11L|SMC2_ENST00000374787.3_Missense_Mutation_p.F11L|SMC2_ENST00000374793.3_Missense_Mutation_p.F11L NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 11 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 TAGAGGGATTCAAGTCCTATG 0.433000 4 171 0.014758 0.0155779 1 1 0 MBD4 8930 broad.mit.edu 37 3 129152054 129152054 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:129152054T>A ENST00000429544.2 - 6 1625 c.1430A>T c.(1429-1431)gAg>gTg p.E477V MBD4_ENST00000249910.1_Missense_Mutation_p.E483V|MBD4_ENST00000503197.1_Missense_Mutation_p.E483V|MBD4_ENST00000507208.1_Missense_Mutation_p.E483V|MBD4_ENST00000393278.2_Missense_Mutation_p.E165V NM_001276270.1 NP_001263199.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 483 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 AGGATACTTCTCCAGAAACTT 0.438000 Base excision repair (BER), DNA glycosylases 4 242 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24874328 24874328 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:24874328C>T ENST00000396432.2 - 26 5376 c.4890G>A c.(4888-4890)ggG>ggA p.G1630G NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1629 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 CCACAGGCCGCCCTTCACTGA 0.567000 11 482 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20089906 20089906 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:20089906G>A ENST00000396085.1 + 22 5306 c.4945G>A c.(4945-4947)Gag>Aag p.E1649K NAV2_ENST00000349880.4_Missense_Mutation_p.E1649K|NAV2_ENST00000527559.2_Missense_Mutation_p.E1634K|NAV2_ENST00000533917.1_Missense_Mutation_p.E713K|NAV2_ENST00000540292.1_Missense_Mutation_p.E1636K|NAV2_ENST00000396087.3_Missense_Mutation_p.E1705K|NAV2_ENST00000360655.4_Missense_Mutation_p.E1585K|NAV2_ENST00000311043.8_Missense_Mutation_p.E713K NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1705 Ser-rich. 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 TGCCTCCCAGGAGAAAGTTTC 0.522000 29 87 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7620562 7620562 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:7620562T>C ENST00000486284.1 + 8 2243 c.1969T>C c.(1969-1971)Ttc>Ctc p.F657L GRM7_ENST00000389336.4_Missense_Mutation_p.F657L|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.F657L|GRM7_ENST00000357716.4_Missense_Mutation_p.F657L|GRM7_ENST00000403881.1_Missense_Mutation_p.F657L NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 657 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 adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|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) AGTGTGTTCTTTCCGGCGAGT 0.458000 4 193 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189349364 189349364 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:189349364G>A ENST00000264731.3 + 1 149 c.60G>A c.(58-60)caG>caA p.Q20Q TP63_ENST00000392460.3_Silent_p.Q20Q|TP63_ENST00000382063.4_Silent_p.Q20Q|TP63_ENST00000440651.2_Silent_p.Q20Q|TP63_ENST00000418709.2_Silent_p.Q20Q|TP63_ENST00000320472.5_Silent_p.Q20Q NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 20 Transcription activation. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CTTACATCCAGCGGTGAGTTT 0.403000 HNSCC(45;0.13) 6 326 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99693790 99693790 + Splice_Site SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:99693790C>G ENST00000303887.5 - 11 1847 c.1201_splice c.e11-1 p.S401_splice MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Splice_Site_p.S225_splice NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 401 MCM. cell cycle checkpoint|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|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) TGTGTACTGGCCTGGAAGAGA 0.562000 9 353 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106976771 106976771 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:106976771C>T ENST00000369701.3 + 19 2852 c.2625C>T c.(2623-2625)atC>atT p.I875I SORCS3_ENST00000369699.4_Silent_p.I161I NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 875 PKD. integral to membrane neuropeptide receptor activity p.I875I(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) TCAGCCCCATCGAGGACGGCA 0.532000 90 58 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627114 43627114 + Nonsense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:43627114G>A ENST00000332857.6 - 4 1601 c.1573C>T c.(1573-1575)Cag>Tag p.Q525* NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 ACTTTATTCTGCGATGCAGGG 0.502000 7 391 0 0 1 0 0 PLAG1 5324 broad.mit.edu 37 8 57079698 57079698 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:57079698G>A ENST00000316981.3 - 5 1086 c.607C>T c.(607-609)Cac>Tac p.H203Y PLAG1_ENST00000429357.2_Missense_Mutation_p.H203Y|PLAG1_ENST00000423799.2_Missense_Mutation_p.H121Y NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 203 Decreased nuclear import with localization in the nucleus but also in the cytoplasm. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) ACCACCATGTGTCTCCGGACA 0.483000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 89 233 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167815053 167815053 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:167815053C>A ENST00000367848.1 - 21 2976 c.2479G>T c.(2479-2481)Gag>Tag p.E827* ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Nonsense_Mutation_p.E919*|ADCY10_ENST00000545172.1_Nonsense_Mutation_p.E766* Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 919 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TCGATCACCTCATTCTCCAGT 0.502000 21 153 1.37878e-21 1.80869e-21 1 1 0 RIMS1 22999 broad.mit.edu 37 6 72678723 72678723 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:72678723A>G ENST00000264839.7 + 2 202 c.202A>G c.(202-204)Aaa>Gaa p.K68E RIMS1_ENST00000491071.2_Missense_Mutation_p.K68E|RIMS1_ENST00000522291.1_Missense_Mutation_p.K68E|RIMS1_ENST00000517960.1_Missense_Mutation_p.K68E|RIMS1_ENST00000521978.1_Missense_Mutation_p.K68E|RIMS1_ENST00000520567.1_Missense_Mutation_p.K68E|RIMS1_ENST00000348717.5_Missense_Mutation_p.K68E|RIMS1_ENST00000518273.1_Missense_Mutation_p.K68E Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 68 RabBD. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) TGCTGCCTGCAAAACACCAAG 0.458000 7 276 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117043719 117043719 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:117043719G>T ENST00000371876.1 - 4 3179 c.758C>A c.(757-759)aCt>aAt p.T253N KLHL13_ENST00000539496.1_Missense_Mutation_p.T307N|KLHL13_ENST00000469946.1_Missense_Mutation_p.T253N|KLHL13_ENST00000371882.1_Missense_Mutation_p.T253N|KLHL13_ENST00000541812.1_Missense_Mutation_p.T288N|KLHL13_ENST00000545703.1_Missense_Mutation_p.T262N|KLHL13_ENST00000540167.1_Missense_Mutation_p.T288N|KLHL13_ENST00000371878.1_Missense_Mutation_p.T253N|KLHL13_ENST00000262820.3_Missense_Mutation_p.T304N Q9P2N7 KLH13_HUMAN kelch-like family member 13 304 BACK. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 AGTATTGTCAGTTCTCATGAA 0.418000 5 248 3.59834e-05 4.06798e-05 1 1 0 SIRPB2 284759 broad.mit.edu 37 20 1460378 1460378 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:1460378T>C ENST00000359801.3 - 2 454 c.418A>G c.(418-420)Aaa>Gaa p.K140E SIRPB2_ENST00000537284.1_Missense_Mutation_p.K2E|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000381630.1_Intron NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 140 Ig-like V-type 1. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TCATCCGATTTCATTTCTGAG 0.473000 8 1043 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16409650 16409650 + Splice_Site SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:16409650C>A ENST00000354981.2 - 14 1580 c.e14-1 KIF16B_ENST00000408042.1_Splice_Site|KIF16B_ENST00000378003.2_Splice_Site|KIF16B_ENST00000355755.3_Splice_Site NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TCTGACCTTCCTGGGAAGAAA 0.393000 6 232 0.000274275 0.000304808 1 1 0 IL11RA 3590 broad.mit.edu 37 9 34660928 34660928 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:34660928G>A ENST00000555003.1 + 12 2603 c.1247G>A c.(1246-1248)cGt>cAt p.R416H IL11RA_ENST00000318041.9_Missense_Mutation_p.R416H|IL11RA_ENST00000441545.2_Missense_Mutation_p.R416H Q14626 I11RA_HUMAN interleukin 11 receptor, alpha 416 integral to plasma membrane cytokine receptor activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.174) Oprelvekin(DB00038) GTGGACAGGCGTCCAGGTGAG 0.522000 4 195 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38835367 38835367 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:38835367C>T ENST00000449082.2 - 1 134 c.135G>A c.(133-135)aaG>aaA p.K45K NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 45 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) CTTCTTGGTCCTTCTGCTCCC 0.552000 5 259 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23902406 23902406 + Nonsense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:23902406G>A ENST00000355349.3 - 4 394 c.232C>T c.(232-234)Cag>Tag p.Q78* NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 78 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|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) GGGTTCTGCTGCATCACCTGG 0.587000 20 705 0 0 1 0 0 MIR518E 574487 broad.mit.edu 37 19 54233120 54233120 + RNA SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:54233120C>T ENST00000385252.1 + 0 29 NR_030209.1 TAGAGGGAAGCGCTTTCTGTT 0.428000 5 321 0 0 1 0 0 PTGR1 22949 broad.mit.edu 37 9 114341111 114341111 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:114341111C>A ENST00000407693.2 - 7 878 c.616G>T c.(616-618)Gcg>Tcg p.A206S PTGR1_ENST00000309195.5_Missense_Mutation_p.A206S|PTGR1_ENST00000238248.3_Missense_Mutation_p.A83S|PTGR1_ENST00000538962.1_Missense_Mutation_p.A206S NM_001146108.1 NP_001139580.1 Q14914 PTGR1_HUMAN prostaglandin reductase 1 206 leukotriene metabolic process cytoplasm 15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(3)|ovary(1) 11 TCAGGAGACGCTTTCTTCAAG 0.358000 5 78 0.00116845 0.00127921 1 1 0 PLCL1 5334 broad.mit.edu 37 2 198950684 198950684 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:198950684C>T ENST00000428675.1 + 2 2841 c.2443C>T c.(2443-2445)Cca>Tca p.P815S PLCL1_ENST00000437704.2_Missense_Mutation_p.P717S NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 815 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) ATATACGATACCATTTGAATG 0.438000 44 86 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133098622 133098622 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:133098622G>A ENST00000515826.1 + 3 190 c.67G>A c.(67-69)Gaa>Aaa p.E23K TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K|TMEM108_ENST00000321871.6_Missense_Mutation_p.E23K Q6UXF1 TM108_HUMAN transmembrane protein 108 23 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GGCACTGACCGAAGCGCTGGC 0.552000 13 731 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502915 140502915 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:140502915C>T ENST00000194152.1 + 1 1335 c.1335C>T c.(1333-1335)gaC>gaT p.D445D NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 445 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGTCAATGACAACGCCCCCG 0.597000 27 147 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150916465 150916465 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:150916465G>A ENST00000368963.1 + 7 848 c.743G>A c.(742-744)gGc>gAc p.248_248insD SETDB1_ENST00000368969.4_Silent_p.R315R|SETDB1_ENST00000271640.5_Silent_p.R315R|SETDB1_ENST00000368962.2_Silent_p.R315R|SETDB1_ENST00000459773.1_Intron Q15047 SETB1_HUMAN SET domain, bifurcated 1 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) CCATTTGCCGGCCACGTGAGT 0.413000 4 111 0 0 1 0 0 ITLN2 142683 broad.mit.edu 37 1 160917768 160917768 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:160917768G>T ENST00000368029.3 - 7 833 c.776C>A c.(775-777)gCc>gAc p.A259D RP11-544M22.1_ENST00000356006.3_RNA|ITLN2_ENST00000494442.1_5'UTR NM_080878.2 NP_543154.1 Q8WWU7 ITLN2_HUMAN intelectin 2 259 Fibrinogen C-terminal. signal transduction extracellular region receptor binding|sugar binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AAGGGCGTTGGCTGCTCTCTC 0.458000 7 60 5.4927e-09 6.67052e-09 1 1 0 LIN37 55957 broad.mit.edu 37 19 36245353 36245353 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:36245353G>A ENST00000301159.9 + 9 1083 c.719G>A c.(718-720)cGa>cAa p.R240Q AC002398.9_ENST00000591613.2_3'UTR NM_019104.2 NP_061977.1 Q96GY3 LIN37_HUMAN lin-37 homolog (C. elegans) 240 protein binding large_intestine(1)|lung(5) 6 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGATCCTACGAGAGATGTAC 0.587000 3 37 0 0 1 0 0 TEAD1 7003 broad.mit.edu 37 11 12902559 12902559 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:12902559C>T ENST00000361905.4 + 7 1093 c.428C>T c.(427-429)cCg>cTg p.P143L TEAD1_ENST00000526600.1_Missense_Mutation_p.P62L|TEAD1_ENST00000334310.6_Missense_Mutation_p.P147L|TEAD1_ENST00000361985.2_Missense_Mutation_p.P158L|TEAD1_ENST00000527575.1_Missense_Mutation_p.P158L|TEAD1_ENST00000527636.1_Missense_Mutation_p.P158L NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 158 Pro-rich. hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) CAGTTCTGGCCGGGAATGATT 0.527000 4 274 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238249767 238249767 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:238249767C>T ENST00000295550.4 - 38 8244 c.7792G>A c.(7792-7794)Gga>Aga p.G2598R COL6A3_ENST00000472056.1_Missense_Mutation_p.G1991R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2397R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2398R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2392R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G2392R NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2598 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) CTGCCAAATCCACAGGATGGG 0.532000 11 119 0 0 1 0 0 EPB42 2038 broad.mit.edu 37 15 43494079 43494079 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:43494079G>T ENST00000300215.3 - 12 2423 c.1966C>A c.(1966-1968)Ctg>Atg p.L656M EPB42_ENST00000441366.2_Missense_Mutation_p.L626M|EPB42_ENST00000540029.1_Missense_Mutation_p.L548M|EPB42_ENST00000563128.1_5'UTR P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 626 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) CCCCTTCCCAGGATGGAGATC 0.552000 31 1223 4.47668e-21 5.85948e-21 1 1 0 IGFL2 147920 broad.mit.edu 37 19 46663969 46663969 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:46663969G>A ENST00000434646.2 + 4 496 c.205G>A c.(205-207)Gtg>Atg p.V69M IGFL2_ENST00000377693.4_Missense_Mutation_p.V58M|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000600243.1_3'UTR NM_001002915.2 NP_001002915.2 Q6UWQ7 IGFL2_HUMAN IGF-like family member 2 58 extracellular region protein binding cervix(1)|lung(5) 6 Ovarian(192;0.0908)|all_neural(266;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247) TGACGCCATCGTGTCCCTGAG 0.577000 4 518 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152749365 152749365 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:152749365C>T ENST00000367255.5 - 37 5552 c.4951G>A c.(4951-4953)Gag>Aag p.E1651K SYNE1_ENST00000423061.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1721K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1651K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1651 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGCAGATTCTCCAGCGCCGTC 0.512000 HNSCC(10;0.0054) 5 231 0 0 1 0 0 SLC36A3 285641 broad.mit.edu 37 5 150663716 150663716 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:150663716T>A ENST00000335230.3 - 8 1274 c.863A>T c.(862-864)tAc>tTc p.Y288F SLC36A3_ENST00000377713.3_Missense_Mutation_p.Y329F NM_181774.3 NP_861439.3 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 288 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 21 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATCCCCAAGTACAGAACAAA 0.448000 7 394 0 0 1 0 0 NDN 4692 broad.mit.edu 37 15 23931741 23931741 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:23931741G>T ENST00000331837.4 - 1 709 c.624C>A c.(622-624)agC>agA p.S208R NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 208 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TCCAGACGGCGCTCTCTCTGG 0.637000 Prader-Willi syndrome 9 98 2.27111e-07 2.70786e-07 1 1 0 KIF19 124602 broad.mit.edu 37 17 72345343 72345343 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:72345343C>T ENST00000389916.4 + 10 1206 c.1068C>T c.(1066-1068)aaC>aaT p.N356N NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 356 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 ACCTCCTGAACGTCTCCTACC 0.617000 5 77 0 0 1 0 0 MGST1 4257 broad.mit.edu 37 12 16516801 16516801 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:16516801C>T ENST00000396209.1 + 4 437 c.294C>T c.(292-294)ccC>ccT p.P98P MGST1_ENST00000535309.1_Intron|MGST1_ENST00000396207.1_Silent_p.P98P|MGST1_ENST00000396210.3_Silent_p.P98P|MGST1_ENST00000010404.2_Silent_p.P98P|MGST1_ENST00000540056.1_3'UTR NM_145791.2 NP_665734.1 P10620 MGST1_HUMAN microsomal glutathione S-transferase 1 98 protein homotrimerization|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane glutathione transferase activity p.P98P(1) endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Hepatocellular(102;0.121) Glutathione(DB00143) TGAGTGGTCCCGACCCCTCTA 0.453000 4 246 0 0 1 0 0 CPSF3 51692 broad.mit.edu 37 2 9580692 9580692 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:9580692G>A ENST00000460593.1 + 8 1860 c.722G>A c.(721-723)tGt>tAt p.C241Y CPSF3_ENST00000238112.3_Missense_Mutation_p.C278Y Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa 278 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) GCCAAGAAGTGTATGGCAGTG 0.373000 4 97 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98409923 98409923 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:98409923G>T ENST00000186436.5 - 30 3708 c.3480C>A c.(3478-3480)aaC>aaA p.N1160K NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1160 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 CGAAGGGCGGGTTCGAGGCCT 0.473000 9 44 1.58986e-06 1.87661e-06 1 1 0 MCM2 4171 broad.mit.edu 37 3 127327298 127327298 + Missense_Mutation SNP G G A rs144869999 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:127327298G>A ENST00000265056.7 + 7 1419 c.1175G>A c.(1174-1176)cGc>cAc p.R392H NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 392 cell cycle checkpoint|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 chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 CGGCTGCCCCGCTCCAAGGAC 0.607000 6 489 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79403540 79403540 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:79403540A>T ENST00000264895.6 + 58 9044 c.e58-1 NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TTTCTCTTCTAGTATTGCACC 0.458000 8 1262 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55178153 55178153 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:55178153G>A ENST00000391736.1 + 12 1309 c.994G>A c.(994-996)Gcc>Acc p.A332T LILRB4_ENST00000391734.3_Missense_Mutation_p.A332T|LILRB4_ENST00000430952.2_Missense_Mutation_p.A332T|LILRB4_ENST00000270452.2_Missense_Mutation_p.A332T|LILRB4_ENST00000391733.3_Missense_Mutation_p.A333T NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 332 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) AGCAGGTGCTGCCGTGAAGAA 0.612000 5 475 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82581468 82581468 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:82581468G>A ENST00000423517.2 - 5 9138 c.8801C>T c.(8800-8802)gCa>gTa p.A2934V PCLO_ENST00000333891.8_Missense_Mutation_p.A2934V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2865 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 TCTTCTCCCTGCGGTTAAATC 0.428000 6 495 0 0 1 0 0 OR10AD1 121275 broad.mit.edu 37 12 48596443 48596443 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:48596443G>A ENST00000310248.2 - 1 727 c.633C>T c.(631-633)ccC>ccT p.P211P NM_001004134.1 NP_001004134.1 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, member 1 211 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 TGAGCACCATGGGGCTGAGAA 0.547000 6 358 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106130 55106130 + Splice_Site SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:55106130G>A ENST00000453777.1 + 4 241 c.70_splice c.e4-1 p.G24_splice LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Splice_Site_p.G24_splice|LILRB1_ENST00000396321.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 24 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity p.G24E(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TTCCTTCCAGGGACCCTCCCC 0.587000 18 25 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70530595 70530595 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:70530595C>A ENST00000357887.3 - 3 2589 c.1836G>T c.(1834-1836)aaG>aaT p.K612N SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000381269.2_Intron|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000528359.1_Missense_Mutation_p.K612N|SLC8A3_ENST00000534137.1_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000394330.2_Intron NM_033262.3 NP_150287.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 612 Calx-beta 2. E -> Q (in a breast cancer sample; somatic mutation). 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) TGAAGTAATTCTTGTTTTTCT 0.403000 5 545 0.217242 0.220613 1 1 0 CP 1356 broad.mit.edu 37 3 148904372 148904372 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:148904372C>T ENST00000264613.6 - 11 2274 c.2012G>A c.(2011-2013)cGg>cAg p.R671Q CP_ENST00000462336.1_5'UTR NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 671 F5/8 type A 2.|Plastocyanin-like 4. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TGTGTCTCTCCGTTCTCCTCT 0.458000 6 316 0 0 1 0 0 KIAA1984 84960 broad.mit.edu 37 9 139699235 139699235 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:139699235C>A ENST00000338005.6 + 8 849 c.814C>A c.(814-816)Ccc>Acc p.P272T KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA NM_001039374.4 NP_001034463.4 Q5T5S1 K1984_HUMAN KIAA1984 272 biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 13 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124) CTTGGACTTCCCCTCGAACCT 0.642000 3 37 0.00909568 0.0096878 1 1 0 MYOM1 8736 broad.mit.edu 37 18 3090749 3090749 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:3090749C>A ENST00000400569.3 - 27 4249 c.3916G>T c.(3916-3918)Gaa>Taa p.E1306* MYOM1_ENST00000356443.4_Nonsense_Mutation_p.E1306*|MYOM1_ENST00000261606.7_Nonsense_Mutation_p.E1210* P52179 MYOM1_HUMAN myomesin 1 1306 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGTAGCTTTTCCATGAACATT 0.378000 63 327 5.80444e-35 7.82337e-35 1 1 0 GUF1 60558 broad.mit.edu 37 4 44696434 44696434 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:44696434A>T ENST00000281543.5 + 14 1813 c.1619A>T c.(1618-1620)gAt>gTt p.D540V GUF1_ENST00000506793.1_3'UTR NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 540 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 TTTAGTTTTGATTACGAAGAT 0.343000 4 45 0 0 1 0 0 PAPD7 11044 broad.mit.edu 37 5 6751279 6751279 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:6751279C>A ENST00000230859.6 + 11 1367 c.1238C>A c.(1237-1239)tCc>tAc p.S413Y NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 413 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CCCACCACTTCCAGAACACTG 0.587000 19 173 6.44725e-10 7.96107e-10 1 1 0 HIPK3 10114 broad.mit.edu 37 11 33373738 33373738 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:33373738A>G ENST00000303296.4 + 16 3403 c.3098A>G c.(3097-3099)cAg>cGg p.Q1033R HIPK3_ENST00000525975.1_Missense_Mutation_p.Q1012R|HIPK3_ENST00000379016.3_Missense_Mutation_p.Q1012R|HIPK3_ENST00000456517.1_Missense_Mutation_p.Q1012R NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 1033 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 AGATTAAACCAGCCTTCTGCA 0.403000 7 506 0 0 1 0 0 SLC25A21 89874 broad.mit.edu 37 14 37194883 37194883 + Splice_Site SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:37194883C>G ENST00000331299.5 - 6 846 c.e6-1 SLC25A21_ENST00000555449.1_Splice_Site NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) TGGCGAATGTCTAGAAAAATT 0.358000 22 47 0 0 1 0 0 ZNF106 64397 broad.mit.edu 37 15 42743241 42743241 + Missense_Mutation SNP G G C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:42743241G>C ENST00000263805.4 - 2 1486 c.1160C>G c.(1159-1161)aCa>aGa p.T387R ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 CTGTATTCCTGTAGTTATCAA 0.388000 6 848 0 0 1 0 0 ZNF614 80110 broad.mit.edu 37 19 52519551 52519551 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:52519551T>C ENST00000270649.6 - 5 1844 c.1300A>G c.(1300-1302)Aaa>Gaa p.K434E ZNF614_ENST00000356322.6_Intron NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 434 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) GTGAAGCCTTTACCACATTCA 0.418000 4 264 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52575768 52575768 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:52575768C>A ENST00000395489.2 - 11 1514 c.1118G>T c.(1117-1119)aGa>aTa p.R373I A1CF_ENST00000373993.1_Missense_Mutation_p.R380I|A1CF_ENST00000282641.2_Missense_Mutation_p.R380I|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000395495.1_Missense_Mutation_p.R325I|A1CF_ENST00000374001.1_Missense_Mutation_p.R380I|A1CF_ENST00000373997.3_Missense_Mutation_p.R380I|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Missense_Mutation_p.R388I NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 380 Required for nuclear localization. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GGTGTTACCTCTAACAGAAGG 0.458000 15 129 2.32078e-09 2.8478e-09 1 1 0 IGLV3-19 28797 broad.mit.edu 37 22 23063563 23063563 + RNA SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:23063563C>A ENST00000390309.2 + 0 310 ACACAGCTTCCTTGACCATCA 0.542000 6 129 0.217242 0.220613 1 1 0 ALOX5AP 241 broad.mit.edu 37 13 31330136 31330136 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr13:31330136C>T ENST00000380490.3 + 4 395 c.297C>T c.(295-297)gtC>gtT p.V99V NM_001204406.1|NM_001629.3 NP_001191335.1|NP_001620.2 P20292 AL5AP_HUMAN arachidonate 5-lipoxygenase-activating protein 99 cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane arachidonic acid binding|protein N-terminus binding endometrium(1)|large_intestine(1)|ovary(1)|prostate(1) 4 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864) AGTACTTTGTCGGTTACCTAG 0.448000 4 164 0 0 1 0 0 UHRF1 29128 broad.mit.edu 37 19 4910785 4910785 + RNA SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:4910785G>A ENST00000592666.1 + 0 566 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) GGAGTTTCCTGGTGTCCACAG 0.547000 OREG0025176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 16 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10108791 10108791 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:10108791G>A ENST00000264828.3 - 9 1230 c.1145C>T c.(1144-1146)gCa>gTa p.A382V NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 382 Nonhelical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TTCAATCACTGCGGGCTCTCC 0.537000 10 1146 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42079650 42079650 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:42079650C>T ENST00000395925.3 - 7 1099 c.1015G>A c.(1015-1017)Gca>Aca p.A339T GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 339 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 ATTGCACTTGCAGATAAGTGA 0.418000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 5 182 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11784722 11784722 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:11784722C>A ENST00000262442.3 + 55 10866 c.10798C>A c.(10798-10800)Cag>Aag p.Q3600K DNAH9_ENST00000454412.2_Missense_Mutation_p.Q3600K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3600 AAA 5 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGACTTGGAGCAGCTGAAGGT 0.587000 14 38 4.7546e-09 5.79806e-09 1 1 0 PPP6C 5537 broad.mit.edu 37 9 127951918 127951918 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:127951918C>A ENST00000451402.1 - 1 300 c.80G>T c.(79-81)aGc>aTc p.S27I PPP6C_ENST00000415905.1_Intron|PPP6C_ENST00000373546.3_Intron|PPP6C_ENST00000373547.4_Intron NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 25 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 GCAAATAGGGCTCACCTTCAG 0.632000 38 114 1.81118e-26 2.40267e-26 1 1 0 HECTD4 283450 broad.mit.edu 37 12 112696345 112696345 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:112696345G>A ENST00000550722.1 - 20 3040 c.2645C>T c.(2644-2646)cCg>cTg p.P882L HECTD4_ENST00000430131.2_Missense_Mutation_p.P596L|HECTD4_ENST00000377560.5_Missense_Mutation_p.P846L|RP3-521E19.2_ENST00000547401.1_RNA NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TGCACCACACGGGGAACAGCC 0.498000 4 462 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71103317 71103317 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:71103317G>A ENST00000393567.2 - 14 1977 c.1827C>T c.(1825-1827)ggC>ggT p.G609G HYDIN_ENST00000543639.1_5'UTR|HYDIN_ENST00000393550.2_Silent_p.G624G|HYDIN_ENST00000321489.5_Silent_p.G609G|HYDIN_ENST00000448691.1_Silent_p.G609G|HYDIN_ENST00000288168.10_Silent_p.G626G|HYDIN_ENST00000541601.1_Silent_p.G626G|HYDIN_ENST00000448089.2_Silent_p.G609G|HYDIN_ENST00000538248.1_Silent_p.G636G NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 609 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGCTTTTATGGCCAAGGCCAT 0.413000 5 204 0 0 1 0 0 ITIH3 3699 broad.mit.edu 37 3 52830849 52830849 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:52830849G>A ENST00000449956.2 + 4 382 c.376G>A c.(376-378)Ggc>Agc p.G126S ITIH3_ENST00000416872.2_Missense_Mutation_p.G126S NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 126 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 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) CAAGACGGCCGGCTTGGTCAA 0.517000 3 94 0 0 1 0 0 KRT72 140807 broad.mit.edu 37 12 52979842 52979842 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:52979842C>A ENST00000293745.2 - 9 1545 c.1460G>T c.(1459-1461)aGc>aTc p.S487I KRT72_ENST00000398066.3_Missense_Mutation_p.S299I|KRT72_ENST00000537672.2_Missense_Mutation_p.S487I|KRT72_ENST00000354310.4_Missense_Mutation_p.S445I NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 487 Tail. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) ACTGCCACAGCTGCCTTTGGT 0.567000 35 1134 3.01185e-09 3.68811e-09 1 1 0 PTENP1 11191 broad.mit.edu 37 9 33676633 33676633 + RNA SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:33676633T>C ENST00000532280.1 - 0 864 NR_023917.1 AACGATCTCTTTGATGATGGC 0.463000 3 137 0 0 1 0 0 FBXL2 25827 broad.mit.edu 37 3 33406139 33406139 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:33406139C>T ENST00000484457.1 + 5 309 c.218C>T c.(217-219)tCg>tTg p.S73L FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Missense_Mutation_p.S73L|FBXL2_ENST00000538892.1_Missense_Mutation_p.S73L|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000283627.6_3'UTR NM_012157.3 NP_036289.3 Q9UKC9 FBXL2_HUMAN F-box and leucine-rich repeat protein 2 73 interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity p.S73L(1) endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1) 15 GAAAATATCTCGAAGCGATGC 0.438000 7 322 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201772738 201772738 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:201772738C>A ENST00000367296.4 + 16 3955 c.3535C>A c.(3535-3537)Caa>Aaa p.Q1179K NAV1_ENST00000295624.6_Missense_Mutation_p.Q1179K|NAV1_ENST00000367297.4_Missense_Mutation_p.Q1171K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.Q788K|NAV1_ENST00000367302.1_Missense_Mutation_p.Q1135K|NAV1_ENST00000367300.3_Missense_Mutation_p.Q1122K NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1179 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 GATCAAGAGACAAAACTCCTC 0.443000 46 129 6.21074e-16 8.00465e-16 1 1 0 NDUFA1 4694 broad.mit.edu 37 X 119005930 119005930 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:119005930C>T ENST00000371437.4 + 1 481 c.56C>T c.(55-57)cCa>cTa p.P19L NM_004541.3 NP_004532.1 O15239 NDUA1_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa 19 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|kidney(1)|large_intestine(2)|stomach(1) 5 NADH(DB00157) TTGTTGATTCCAGGACTGGCT 0.587000 4 119 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42437859 42437859 + Missense_Mutation SNP G G C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:42437859G>C ENST00000397272.3 - 16 1791 c.1700C>G c.(1699-1701)gCc>gGc p.A567G PLA2G4F_ENST00000382396.4_Missense_Mutation_p.A565G NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 565 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) CAGGCTGGTGGCAAAGGCGCT 0.647000 4 39 0 0 1 0 0 ITIH5 80760 broad.mit.edu 37 10 7682737 7682737 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:7682737A>T ENST00000256861.6 - 4 459 c.381T>A c.(379-381)aaT>aaA p.N127K ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.N127K|ITIH5_ENST00000397145.2_Missense_Mutation_p.N127K NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 127 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 CTGTGGTTTTATTCCTTTTCT 0.373000 6 310 0 0 1 0 0 ANGPT1 284 broad.mit.edu 37 8 108276471 108276471 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:108276471T>C ENST00000520734.1 - 7 999 c.714A>G c.(712-714)aaA>aaG p.K238K ANGPT1_ENST00000520052.1_Silent_p.K237K|ANGPT1_ENST00000518386.1_5'UTR Q15389 ANGP1_HUMAN angiopoietin 1 438 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 blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|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|Tie receptor signaling pathway 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) TGAGGGCACATTTGCACATAC 0.433000 10 75 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985617 140985617 + Nonstop_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:140985617G>T ENST00000298296.1 + 8 1931 c.1931G>T c.(1930-1932)tGa>tTa p.*644L MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000409007.1_3'UTR NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 0 NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) TGTCCTGAGTGATGTCTGAAG 0.537000 5 435 1.23904e-05 1.42538e-05 1 1 0 NOTCH2 4853 broad.mit.edu 37 1 120466571 120466571 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:120466571G>T ENST00000256646.2 - 26 4767 c.4548C>A c.(4546-4548)aaC>aaA p.N1516K NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1516 Negative regulatory region (NRR). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GGTCACAGTGGTTGTCTTTGA 0.502000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 13 69 7.93312e-07 9.38275e-07 1 1 0 PHC1 1911 broad.mit.edu 37 12 9086983 9086983 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:9086983A>G ENST00000433083.2 + 9 2172 c.2027A>G c.(2026-2028)gAc>gGc p.D676G PHC1_ENST00000536844.1_Missense_Mutation_p.D327G|PHC1_ENST00000543824.1_Missense_Mutation_p.D721G|PHC1_ENST00000544916.1_Missense_Mutation_p.D721G P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 721 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 CAAATGGGTGACTCAAAACCC 0.522000 4 118 0 0 1 0 0 ADGRG6 57211 broad.mit.edu 37 6 142737090 142737090 + Missense_Mutation SNP G G C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:142737090G>C ENST00000230173.6 + 20 3303 c.2827G>C c.(2827-2829)Gca>Cca p.A943P GPR126_ENST00000296932.8_Missense_Mutation_p.A915P|GPR126_ENST00000367609.3_Missense_Mutation_p.A943P|GPR126_ENST00000367608.2_Missense_Mutation_p.A915P NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 943 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity 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) CTTCCTTCTGGCAACCTTTAC 0.428000 8 140 0 0 1 0 0 STRIP2 57464 broad.mit.edu 37 7 129096278 129096278 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:129096278A>T ENST00000249344.2 + 9 874 c.e9-1 STRIP2_ENST00000435494.2_Splice_Site NM_020704.2 NP_065755.1 striatin interacting protein 2 TTTCTTCCTTAGTTTACCCTC 0.517000 6 154 0 0 1 0 0 TAF4B 6875 broad.mit.edu 37 18 23937652 23937652 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:23937652A>T ENST00000269142.5 + 14 3314 c.e14-1 TAF4B_ENST00000578121.1_Splice_Site NM_005640.1 NP_005631.1 Q92750 TAF4B_HUMAN TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleolus|transcription factor TFIID complex DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1) 29 all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124) Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267) TCCGTCTTCTAGTTACAGCAA 0.383000 5 66 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35591991 35591991 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:35591991C>T ENST00000353139.5 - 25 3626 c.3145G>A c.(3145-3147)Gcc>Acc p.A1049T ACACA_ENST00000394406.2_Missense_Mutation_p.A1012T|ACACA_ENST00000360679.3_Missense_Mutation_p.A954T|ACACA_ENST00000335166.5_Missense_Mutation_p.A934T NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1012 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding p.A954T(1)|p.A1049T(1) NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TCTCGGAGGGCGAATACACAT 0.393000 6 707 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47336769 47336769 + Splice_Site SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:47336769A>G ENST00000342922.4 + 27 4449 c.e27-1 MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000311027.5_Splice_Site NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CTCTTTCATCAGAATGGACGC 0.473000 3 55 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44101009 44101009 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:44101009G>A ENST00000272286.2 + 9 1385 c.1295G>A c.(1294-1296)gGc>gAc p.G432D NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 432 ABC transmembrane type-2. 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) ATGACCATCGGCTTCCTCTAT 0.522000 6 770 0 0 1 0 0 DCAF4 26094 broad.mit.edu 37 14 73422349 73422349 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:73422349C>A ENST00000553457.1 + 11 1114 c.824C>A c.(823-825)tCt>tAt p.S275Y DCAF4_ENST00000509153.1_Missense_Mutation_p.S315Y|DCAF4_ENST00000353777.3_Missense_Mutation_p.S205Y|DCAF4_ENST00000394234.2_Missense_Mutation_p.S275Y|DCAF4_ENST00000358377.2_Missense_Mutation_p.S375Y|DCAF4_ENST00000555042.1_Missense_Mutation_p.S369Y Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 375 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 GCAGTGACCTCTGTGCGGATC 0.547000 15 402 8.00594e-06 9.31917e-06 1 1 0 LRBA 987 broad.mit.edu 37 4 151935680 151935680 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:151935680G>A ENST00000535741.1 - 2 588 c.115C>T c.(115-117)Ctc>Ttc p.L39F LRBA_ENST00000510413.1_Missense_Mutation_p.L39F|LRBA_ENST00000507224.1_Missense_Mutation_p.L39F|LRBA_ENST00000357115.3_Missense_Mutation_p.L39F P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 39 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CTGATGGGGAGCCCTGGTTTC 0.512000 55 13 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53783446 53783446 + Nonsense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:53783446C>T ENST00000288139.3 + 28 3644 c.3526C>T c.(3526-3528)Cag>Tag p.Q1176* CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.Q1156*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.Q1156*|CACNA1D_ENST00000540742.1_Nonsense_Mutation_p.Q63* NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1156 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) CGTTACATTTCAGGAACAAGG 0.428000 5 97 0 0 1 0 0 SEZ6 124925 broad.mit.edu 37 17 27287824 27287824 + Splice_Site SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:27287824T>C ENST00000317338.12 - 6 1836 c.1409_splice c.e6+1 p.R470_splice SEZ6_ENST00000442608.3_Splice_Site_p.R470_splice|SEZ6_ENST00000360295.9_Splice_Site_p.R470_splice|SEZ6_ENST00000335960.6_Splice_Site_p.R470_splice|PIPOX_ENST00000583215.1_Intron Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 470 CUB 1. integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) GCCCCTCACCTGTCATCATCC 0.607000 4 534 0 0 1 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43591160 43591160 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:43591160A>T ENST00000409746.5 - 5 412 c.341T>A c.(340-342)cTa>cAa p.L114Q PSTPIP2_ENST00000589328.1_Missense_Mutation_p.L114Q|PSTPIP2_ENST00000588801.1_5'UTR NM_024430.3 NP_077748.3 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting protein 2 114 membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 TTTTCGTTGTAGTTTTTGCTT 0.413000 8 550 0 0 1 0 0 CCNA1 8900 broad.mit.edu 37 13 37015253 37015253 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr13:37015253A>T ENST00000418263.1 + 7 1445 c.e7-1 CCNA1_ENST00000255465.4_Splice_Site|CCNA1_ENST00000440264.1_Splice_Site|CCNA1_ENST00000449823.1_Splice_Site NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) TCTTGTGCTTAGTACGTAGCA 0.393000 4 129 0 0 1 0 0 SPAG7 9552 broad.mit.edu 37 17 4863593 4863593 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:4863593G>A ENST00000573366.1 - 4 968 c.110C>T c.(109-111)gCt>gTt p.A37V SPAG7_ENST00000206020.3_Missense_Mutation_p.A88V|SPAG7_ENST00000575142.1_Missense_Mutation_p.A77V O75391 SPAG7_HUMAN sperm associated antigen 7 88 nucleus nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1) 10 TGTCAGGCCAGCCACTTCCAC 0.557000 3 42 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71215544 71215544 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:71215544A>T ENST00000554752.2 - 5 1326 c.e5+1 MAP3K9_ENST00000555993.2_Splice_Site|MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) tgttttgtttaccttttcttt 0.438000 5 117 0 0 1 0 0 OR51I1 390063 broad.mit.edu 37 11 5462299 5462299 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:5462299C>T ENST00000380211.1 - 1 445 c.446G>A c.(445-447)gGc>gAc p.G149D HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTAAGGATGCCCAGACCCAT 0.473000 5 397 0 0 1 0 0 LCA5 167691 broad.mit.edu 37 6 80223213 80223213 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:80223213C>A ENST00000392959.1 - 4 1047 c.436G>T c.(436-438)Gcc>Tcc p.A146S LCA5_ENST00000369846.4_Missense_Mutation_p.A146S|LCA5_ENST00000467898.2_Missense_Mutation_p.A146S NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 146 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TTATTCAGGGCTTTCTCCTGT 0.363000 3 59 1 1 1 1 0 TAF4 6874 broad.mit.edu 37 20 60574157 60574157 + Missense_Mutation SNP T T G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:60574157T>G ENST00000252996.3 - 12 2794 c.2795A>C c.(2794-2796)gAc>gCc p.D932A NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 932 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) CTCATATCTGTCGTCATCCTA 0.488000 5 428 0 0 1 0 0 PDXK 8566 broad.mit.edu 37 21 45152365 45152365 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr21:45152365C>A ENST00000327574.4 + 2 457 c.107C>A c.(106-108)tCg>tAg p.S36* PDXK_ENST00000398081.1_Intron|PDXK_ENST00000468090.1_Intron|PDXK_ENST00000291565.4_Intron|PDXK_ENST00000476313.1_Intron O00764 PDXK_HUMAN pyridoxal (pyridoxine, vitamin B6) kinase 0 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) TCAGCTTGCTCGTGCTCTCAT 0.493000 3 29 0.115264 0.118483 1 1 0 HSPA2 3306 broad.mit.edu 37 14 65008729 65008729 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:65008729T>C ENST00000247207.6 + 1 1544 c.1162T>C c.(1162-1164)Tca>Cca p.S388P HSPA2_ENST00000394709.1_Missense_Mutation_p.S388P NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 388 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) CGGCGACAAATCAGAGAATGT 0.602000 3 67 0 0 1 0 0 AURKC 6795 broad.mit.edu 37 19 57743445 57743445 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:57743445G>T ENST00000302804.7 + 3 335 c.149G>T c.(148-150)gGc>gTc p.G50V AURKC_ENST00000599062.1_Missense_Mutation_p.G47V|AURKC_ENST00000598785.1_Missense_Mutation_p.G16V|AURKC_ENST00000448930.1_Missense_Mutation_p.G16V|AURKC_ENST00000415300.2_Missense_Mutation_p.G31V NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 50 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) CGTCCCCTGGGCAAGGGGAAA 0.542000 4 77 0.00024832 0.000276485 1 1 0 PGBD2 267002 broad.mit.edu 37 1 249212482 249212482 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:249212482C>T ENST00000355360.4 + 3 1216 c.946C>T c.(946-948)Cac>Tac p.H316Y PGBD2_ENST00000329291.5_Missense_Mutation_p.H567Y|PGBD2_ENST00000539153.1_Missense_Mutation_p.H564Y NM_001017434.1 NP_001017434.1 Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 567 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TGCCCTCTGCCACTCACAGAC 0.552000 7 156 0 0 1 0 0 ATRNL1 26033 broad.mit.edu 37 10 116925316 116925316 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:116925316A>T ENST00000355044.3 + 7 1130 c.e7-1 ATRNL1_ENST00000527407.1_Intron|ATRNL1_ENST00000529665.1_Splice_Site NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TCTTGCTTTTAGTTACAATTT 0.328000 4 54 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46835125 46835125 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:46835125C>T ENST00000262738.3 - 3 4366 c.4367G>A c.(4366-4368)cGg>cAg p.R1456Q NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1456 Laminin G-like 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCTCAGGCCCCGGAAGGTGAC 0.642000 4 323 0 0 1 0 0 HERC6 55008 broad.mit.edu 37 4 89334236 89334236 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:89334236C>T ENST00000380265.5 + 12 1559 c.1376C>T c.(1375-1377)aCg>aTg p.T459M HERC6_ENST00000264346.7_Missense_Mutation_p.T459M NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 459 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity p.T459M(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) CAGATAACTACGTGTCTCGAG 0.443000 16 2057 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42473048 42473048 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:42473048A>G ENST00000545399.1 - 20 2900 c.2747T>C c.(2746-2748)gTg>gCg p.V916A ATP1A3_ENST00000602133.1_Missense_Mutation_p.V873A|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V914A|ATP1A3_ENST00000302102.5_Missense_Mutation_p.V903A NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 903 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GAACTCCACCACCTTCCTCTG 0.612000 5 255 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39885673 39885673 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:39885673G>A ENST00000260356.5 + 19 3236 c.3071G>A c.(3070-3072)gGa>gAa p.G1024E NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 1024 TSP C-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GACTATGCTGGATTTGTCTTT 0.517000 5 577 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7811408 7811408 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:7811408C>T ENST00000315599.7 - 3 138 c.116G>A c.(115-117)gGc>gAc p.G39D CD209_ENST00000602261.1_Missense_Mutation_p.G39D|CD209_ENST00000601256.1_Intron|CD209_ENST00000601951.1_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.G39D|CD209_ENST00000204801.8_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000593660.1_Intron|CD209_ENST00000394161.5_Missense_Mutation_p.G39D|CD209_ENST00000593821.1_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.G39D|CD209_ENST00000315591.8_Intron NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 39 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 endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GGGACCATGGCCAAGACACCC 0.642000 5 352 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79566670 79566670 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:79566670G>A ENST00000372391.2 - 26 4818 c.4813C>T c.(4813-4815)Ctg>Ttg p.L1605L DLG5_ENST00000372388.2_Silent_p.L1265L|DLG5_ENST00000459739.1_5'UTR NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1605 SH3. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ACATCTGCCAGCCGGTCGTAC 0.597000 3 61 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88768273 88768273 + RNA SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:88768273C>T ENST00000444431.1 + 0 2873 RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AGTCCATGGGCTGGTCCAACC 0.567000 14 1001 0 0 1 0 0 GGCX 2677 broad.mit.edu 37 2 85779652 85779652 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:85779652G>T ENST00000233838.3 - 10 1406 c.1326C>A c.(1324-1326)gaC>gaA p.D442E GGCX_ENST00000430215.3_Missense_Mutation_p.D385E|GGCX_ENST00000473665.1_5'UTR NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase 442 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) GCTTCAGCATGTCTGCATGAT 0.478000 OREG0014747 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 202 1332 2.84368e-68 3.90426e-68 1 1 0 MYRF 745 broad.mit.edu 37 11 61538984 61538984 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:61538984C>A ENST00000278836.5 + 6 849 c.753C>A c.(751-753)caC>caA p.H251Q MYRF_ENST00000265460.5_Missense_Mutation_p.H242Q|TMEM258_ENST00000535042.1_Intron NM_001127392.1 NP_001120864.1 myelin regulatory factor TCCCTACACACCCCTCCAAGA 0.617000 3 9 1 1 1 1 0 KLHDC7A 127707 broad.mit.edu 37 1 18809651 18809651 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:18809651T>C ENST00000400664.1 + 1 2228 c.2176T>C c.(2176-2178)Tac>Cac p.Y726H NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 726 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CAACCTCATCTACTGCGTGGG 0.662000 3 26 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20554584 20554584 + Splice_Site SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:20554584C>T ENST00000329697.6 - 11 1450 c.1281_splice c.e11-1 p.E428_splice ACSM2B_ENST00000567001.1_Splice_Site_p.E428_splice|ACSM2B_ENST00000565322.1_Splice_Site_p.E349_splice|ACSM2B_ENST00000565232.1_Splice_Site_p.E428_splice NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 428 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|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 TCGGGATTTTCCTGGTGACCA 0.483000 4 174 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52250087 52250087 + Missense_Mutation SNP C C T rs145808420 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:52250087C>T ENST00000595042.1 - 3 302 c.161G>A c.(160-162)cGg>cAg p.R54Q FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 54 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GTGTGTCATCCGGAATCCAGC 0.527000 12 1251 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26219542 26219542 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:26219542G>T ENST00000335473.7 + 13 2842 c.2592G>T c.(2590-2592)gaG>gaT p.E864D MYO18B_ENST00000536101.1_Missense_Mutation_p.E864D|MYO18B_ENST00000407587.2_Missense_Mutation_p.E864D NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 864 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GCGAGTATGAGGAGCTGAACA 0.572000 5 423 1.024e-07 1.22838e-07 1 1 0 TTF1 7270 broad.mit.edu 37 9 135266069 135266069 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:135266069G>A ENST00000334270.2 - 7 2176 c.2137C>T c.(2137-2139)Cgg>Tgg p.R713W NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 713 Myb-like 2. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) AGTTTTTCCCGAACAATTGAT 0.418000 10 962 0 0 1 0 0 SUV39H2 79723 broad.mit.edu 37 10 14939306 14939306 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:14939306T>A ENST00000313519.5 + 2 690 c.459T>A c.(457-459)aaT>aaA p.N153K SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.N213K NM_001193425.1|NM_024670.3 NP_001180354.1|NP_078946.1 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 (Drosophila) 213 cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|chromosome, centromeric region|nucleus histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1) 19 TGGCTTATAATAAAAACCAAC 0.393000 5 89 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204294 9204294 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:9204294C>T ENST00000429566.3 + 1 440 c.374C>T c.(373-375)gCc>gTc p.A125V NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CGGTTCGTGGCCATCTGCCAC 0.542000 4 239 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48575226 48575226 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:48575226C>A ENST00000537810.1 - 26 3485 c.2881G>T c.(2881-2883)Gaa>Taa p.E961* FRYL_ENST00000507711.1_Nonsense_Mutation_p.E961*|FRYL_ENST00000503238.1_Nonsense_Mutation_p.E961*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.E961*|FRYL_ENST00000264319.7_5'UTR O94915 FRYL_HUMAN FRY-like 961 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 TCGAGTGCTTCTTTAATTATG 0.343000 14 74 1.64113e-05 1.8806e-05 1 1 0 AP4B1 10717 broad.mit.edu 37 1 114437917 114437917 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:114437917C>A ENST00000369569.1 - 10 2270 c.1990G>T c.(1990-1992)Gtg>Ttg p.V664L AP4B1_ENST00000256658.4_Missense_Mutation_p.V664L|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.V496L|AP4B1_ENST00000462591.1_5'UTR NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit 664 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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) TGGATGTTCACTACTTGAAGA 0.488000 10 213 1.76689e-08 2.12822e-08 1 1 0 CAPN2 824 broad.mit.edu 37 1 223954130 223954130 + Silent SNP A A C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:223954130A>C ENST00000295006.5 + 16 2061 c.1752A>C c.(1750-1752)ctA>ctC p.L584L CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.L506L NM_001748.4 NP_001739.2 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 584 Domain IV.|EF-hand 1. proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) TTGACATGCTAGATGTATCCT 0.403000 5 104 0 0 1 0 0 GRXCR2 643226 broad.mit.edu 37 5 145252410 145252410 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:145252410T>C ENST00000377976.1 - 1 121 c.122A>G c.(121-123)gAa>gGa p.E41G NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 41 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 TGACTCTAATTCCTGCCCATC 0.488000 15 1222 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100676360 100676360 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:100676360C>G ENST00000306151.4 + 3 1727 c.1663C>G c.(1663-1665)Cct>Gct p.P555A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 555 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) TTCTACAACTCCTGAAGGTAC 0.517000 6 492 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154221341 154221341 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:154221341C>A ENST00000360256.4 - 4 671 c.471G>T c.(469-471)tgG>tgT p.W157C NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 157 F5/8 type A 1.|Plastocyanin-like 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCAGGACCTGCCAGACATATG 0.448000 4 290 1 1 1 1 0 GNL1 2794 broad.mit.edu 37 6 30520260 30520260 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:30520260C>T ENST00000376621.3 - 8 2053 c.1083G>A c.(1081-1083)gtG>gtA p.V361V NM_005275.3 NP_005266.2 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 361 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 AGCCGATGGTCACCACCCCAT 0.572000 22 189 0 0 1 0 0 IRF5 3663 broad.mit.edu 37 7 128587936 128587936 + Missense_Mutation SNP G G A rs144448991 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:128587936G>A ENST00000402030.2 + 7 965 c.893G>A c.(892-894)cGc>cAc p.R298H IRF5_ENST00000357234.5_Missense_Mutation_p.R314H|IRF5_ENST00000477535.1_Missense_Mutation_p.R212H|IRF5_ENST00000473745.1_Missense_Mutation_p.R298H|IRF5_ENST00000249375.4_Missense_Mutation_p.R298H NM_001098629.1|NM_001098630.1 NP_001092099.1|NP_001092100.1 Q13568 IRF5_HUMAN interferon regulatory factor 5 298 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1) 15 GAGCAAGTGCGCTTCCCCAGC 0.632000 8 34 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65342090 65342090 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:65342090C>T ENST00000402939.2 - 23 4351 c.4352G>A c.(4351-4353)cGa>cAa p.R1451Q MAGI1_ENST00000330909.8_3'UTR NM_001033057.1 NP_001028229.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1480 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TTTGTAAGGTCGCCTTCTCTG 0.517000 4 196 0 0 1 0 0 APOA2 336 broad.mit.edu 37 1 161192276 161192276 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:161192276G>T ENST00000594609.1 + 2 211 c.211G>T c.(211-213)Ggg>Tgg p.G71W APOA2_ENST00000367990.3_Silent_p.P74P|APOA2_ENST00000481413.1_5'UTR TCTTGATCAGGGGTGTCAGCT 0.507000 9 924 5.18039e-06 6.0661e-06 1 1 0 HYAL1 3373 broad.mit.edu 37 3 50340148 50340148 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:50340148G>A ENST00000266031.4 - 1 855 c.240C>T c.(238-240)ggC>ggT p.G80G HYAL1_ENST00000320295.8_Silent_p.G80G|HYAL1_ENST00000457214.2_Intron|HYAL1_ENST00000395144.2_Silent_p.G80G|HYAL1_ENST00000395143.2_Silent_p.G80G|HYAL1_ENST00000447605.2_Intron Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 80 extracellular space|lysosome hyalurononglucosaminidase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) Hyaluronidase(DB00070) AGGGGTAGGTGCCCAGCTGGG 0.597000 11 417 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43515433 43515433 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:43515433T>C ENST00000265351.7 - 19 2282 c.2072A>G c.(2071-2073)gAt>gGt p.D691G NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 691 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) AGCATCAACATCTGACAGCAC 0.458000 5 244 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122825775 122825775 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:122825775A>T ENST00000358808.2 - 10 2097 c.1943T>A c.(1942-1944)cTa>cAa p.L648Q CLIP1_ENST00000545889.1_Missense_Mutation_p.L349Q|CLIP1_ENST00000302528.7_Missense_Mutation_p.L648Q|CLIP1_ENST00000540338.1_Missense_Mutation_p.L659Q|CLIP1_ENST00000537178.1_Missense_Mutation_p.L613Q|CLIP1_ENST00000361654.4_Missense_Mutation_p.L613Q NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 659 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) TTGTGTTTTTAGTTCAGCAAA 0.438000 5 128 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64601642 64601642 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:64601642C>A ENST00000498707.1 - 20 3360 c.3018G>T c.(3016-3018)tgG>tgT p.W1006C ADAMTS9_ENST00000295903.4_Missense_Mutation_p.W978C NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1006 TSP type-1 4. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TTACTTCAGTCCAGGCAGAAT 0.498000 5 418 6.5536e-12 8.28341e-12 1 1 0 NLGN1 22871 broad.mit.edu 37 3 173322742 173322742 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:173322742C>A ENST00000457714.1 + 3 783 c.354C>A c.(352-354)ccC>ccA p.P118P NLGN1_ENST00000361589.4_Silent_p.P118P|NLGN1_ENST00000545397.1_Silent_p.P118P|NLGN1_ENST00000401917.3_Silent_p.P118P NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 118 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity p.P118P(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CTGTGTGTCCCCAGAATATCA 0.478000 5 391 0.014758 0.0155779 1 1 0 EPHA5 2044 broad.mit.edu 37 4 66467884 66467884 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:66467884C>A ENST00000273854.3 - 3 985 c.385G>T c.(385-387)Gaa>Taa p.E129* EPHA5_ENST00000511294.1_Nonsense_Mutation_p.E129*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.E129*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.E129* NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 129 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 AATTTGAGTTCTATGAAGATT 0.423000 TSP Lung(17;0.13) 35 135 1.07637e-12 1.37225e-12 1 1 0 EDNRB 1910 broad.mit.edu 37 13 78492255 78492255 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr13:78492255C>T ENST00000377211.4 - 2 876 c.724G>A c.(724-726)Gtc>Atc p.V242I EDNRB_ENST00000446573.1_Missense_Mutation_p.V152I|EDNRB_ENST00000334286.5_Missense_Mutation_p.V152I NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 152 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 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) ATGTCAATGACGATGTGCAGC 0.507000 11 364 0 0 1 0 0 CHIA 27159 broad.mit.edu 37 1 111857217 111857217 + Splice_Site SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:111857217C>T ENST00000369740.1 + 5 416 c.314_splice c.e5+1 p.P105_splice CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000343320.6_Splice_Site_p.P105_splice|CHIA_ENST00000353665.6_5'UTR|CHIA_ENST00000483391.1_5'UTR|CHIA_ENST00000451398.2_5'UTR NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 105 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) CGGGACTGCCCCGTAAGTCTT 0.453000 11 32 0 0 1 0 0 NCR1 9437 broad.mit.edu 37 19 55420787 55420787 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:55420787T>C ENST00000594765.1 + 4 564 c.539T>C c.(538-540)gTg>gCg p.V180A NCR1_ENST00000357397.5_Missense_Mutation_p.V73A|NCR1_ENST00000291890.4_Missense_Mutation_p.V180A|NCR1_ENST00000447255.1_Missense_Mutation_p.V180A|NCR1_ENST00000598576.1_Missense_Mutation_p.V168A|NCR1_ENST00000338835.5_Missense_Mutation_p.V180A|NCR1_ENST00000350790.5_Missense_Mutation_p.V85A O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 180 Ig-like 2. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) CTGGGCCCTGTGACCACAGCC 0.577000 4 139 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9424630 9424630 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:9424630A>T ENST00000378501.2 + 27 2746 c.2731A>T c.(2731-2733)Att>Ttt p.I911F PLCB4_ENST00000278655.4_Missense_Mutation_p.I911F|PLCB4_ENST00000414679.2_Missense_Mutation_p.I923F|PLCB4_ENST00000378473.3_Missense_Mutation_p.I923F|PLCB4_ENST00000378493.1_Missense_Mutation_p.I911F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.I911F NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 911 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TTGTTTAGGTATTGAACTTAT 0.313000 4 131 0 0 1 0 0 GRSF1 2926 broad.mit.edu 37 4 71691150 71691150 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:71691150T>A ENST00000254799.6 - 8 1375 c.e8-2 GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000439371.1_Splice_Site|GRSF1_ENST00000502323.1_Splice_Site|GRSF1_ENST00000545193.1_Splice_Site NM_002092.3 NP_002083.3 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 mRNA polyadenylation mRNA binding|nucleotide binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) AGCAAAAAACTAAACGACAAA 0.443000 6 255 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131896926 131896926 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:131896926C>T ENST00000286355.5 - 8 4085 c.1993G>A c.(1993-1995)Gag>Aag p.E665K ADCY8_ENST00000377928.3_Missense_Mutation_p.E665K NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 665 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) TTAATTTCCTCAGGCCCAGAC 0.438000 HNSCC(32;0.087) 4 258 0 0 1 0 0 CYP27A1 1593 broad.mit.edu 37 2 219677361 219677361 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:219677361G>A ENST00000258415.4 + 4 1160 c.733G>A c.(733-735)Ggg>Agg p.G245R NM_000784.3 NP_000775.1 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, polypeptide 1 245 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1) 26 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) CAGATCCATCGGGTTAATGTT 0.542000 5 641 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11137010 11137010 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:11137010G>A ENST00000358026.2 + 23 3487 c.3203G>A c.(3202-3204)gGc>gAc p.G1068D SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1068D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1068D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1068D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1068D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1068D NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1068 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TTCACTGGCGGCATTGTCCAA 0.592000 """F, N, Mis""" NSCLC 3 107 0 0 1 0 0 FOXJ2 55810 broad.mit.edu 37 12 8196343 8196343 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:8196343G>T ENST00000162391.3 + 4 1600 c.455G>T c.(454-456)aGa>aTa p.R152I FOXJ2_ENST00000428177.2_Missense_Mutation_p.R152I NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 152 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) TCCCGAAAGAGAAGACACCCT 0.483000 5 638 0.0293803 0.0306284 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25304766 25304766 + RNA SNP G G A rs140779859 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:25304766G>A ENST00000549804.2 + 0 159 SNHG14_ENST00000384733.1_RNA GTCGTTCTCAGCGGAACTGAG 0.517000 4 350 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61417421 61417421 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:61417421A>G ENST00000398571.2 - 78 9934 c.9858T>C c.(9856-9858)agT>agC p.S3286S NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 3286 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TTAAAGAAGCACTTGCTTTGG 0.408000 8 410 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76276447 76276447 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:76276447G>A ENST00000263187.3 + 4 758 c.654G>A c.(652-654)gtG>gtA p.V218V NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 218 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 CTTGTGCTGTGGGGAATTCCA 0.284000 Mismatch excision repair (MMR) 3 52 0 0 1 0 0 FLVCR2 55640 broad.mit.edu 37 14 76088498 76088498 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:76088498A>G ENST00000238667.4 + 2 1102 c.746A>G c.(745-747)cAc>cGc p.H249R FLVCR2_ENST00000539311.1_Missense_Mutation_p.H44R|FLVCR2_ENST00000556856.1_5'UTR|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000553587.1_5'UTR NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 249 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) CTTGCCTACCACATCAGCATC 0.478000 8 783 0 0 1 0 0 ACAD9 28976 broad.mit.edu 37 3 128623348 128623348 + Splice_Site SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:128623348G>T ENST00000308982.7 + 11 1230 c.1149_splice c.e11+1 p.K383_splice ACAD9_ENST00000511526.1_3'UTR NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 383 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 CCATGGTGAAGGTAACCCTGG 0.567000 3 101 0.014758 0.0155779 1 1 0 GRM7 2917 broad.mit.edu 37 3 7620404 7620404 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:7620404C>T ENST00000486284.1 + 8 2085 c.1811C>T c.(1810-1812)gCc>gTc p.A604V GRM7_ENST00000389336.4_Missense_Mutation_p.A604V|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.A604V|GRM7_ENST00000357716.4_Missense_Mutation_p.A604V|GRM7_ENST00000403881.1_Missense_Mutation_p.A604V NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 604 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 adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|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) GGGATCATTGCCACCATCTTT 0.522000 4 122 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38158135 38158135 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:38158135G>A ENST00000308059.6 + 28 4069 c.4048G>A c.(4048-4050)Gaa>Aaa p.E1350K DLEC1_ENST00000346219.3_Missense_Mutation_p.E1350K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E1353K Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1350 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) ATTCAGCCATGAAACTGACTC 0.627000 4 165 0 0 1 0 0 KLHL40 131377 broad.mit.edu 37 3 42730412 42730412 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:42730412G>A ENST00000287777.4 + 4 1573 c.1473G>A c.(1471-1473)aaG>aaA p.K491K NM_152393.2 NP_689606.2 kelch-like family member 40 TTGAGTGGAAGGAGCTGGCAC 0.607000 4 163 0 0 1 0 0 SLC5A11 115584 broad.mit.edu 37 16 24887048 24887048 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:24887048T>C ENST00000347898.3 + 6 1095 c.473T>C c.(472-474)aTc>aCc p.I158T SLC5A11_ENST00000449109.2_Missense_Mutation_p.I94T|SLC5A11_ENST00000568579.1_Intron|SLC5A11_ENST00000539472.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000567758.1_Intron|SLC5A11_ENST00000545376.1_Intron|SLC5A11_ENST00000565769.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000424767.2_Intron NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 158 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TTCACCAAGATCTCGGTAAGG 0.527000 4 375 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79553848 79553848 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:79553848C>T ENST00000372391.2 - 31 5579 c.5574G>A c.(5572-5574)agG>agA p.R1858R DLG5_ENST00000372388.2_Silent_p.R1518R|DLG5_ENST00000459739.1_5'UTR NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1858 Guanylate kinase-like. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TCACCTTGTCCCTCAGGTAGA 0.592000 7 838 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92182267 92182267 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:92182267T>A ENST00000212355.4 - 11 2032 c.e11-2 TGFBR3_ENST00000525962.1_Splice_Site|TGFBR3_ENST00000370399.2_Splice_Site NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TATCACAATCTAAAAGGCAAA 0.423000 9 688 0 0 1 0 0 SLC25A12 8604 broad.mit.edu 37 2 172641944 172641944 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:172641944G>A ENST00000422440.2 - 18 1914 c.1877C>T c.(1876-1878)gCa>gTa p.A626V SLC25A12_ENST00000392592.4_Missense_Mutation_p.A519V NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 626 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) AGGAAGGTCTGCAATGCGTGA 0.498000 4 81 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9088165 9088165 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:9088165A>T ENST00000397910.4 - 1 3853 c.3650T>A c.(3649-3651)cTg>cAg p.L1217Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1217 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 CAAGGGAACCAGGGTGCTTTT 0.502000 7 874 0 0 1 0 0 PDS5A 23244 broad.mit.edu 37 4 39910035 39910035 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:39910035C>A ENST00000303538.8 - 11 1752 c.1213G>T c.(1213-1215)Gaa>Taa p.E405* PDS5A_ENST00000503396.1_Nonsense_Mutation_p.E405* NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 405 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 AGTGTTCTTTCCCTTACAAAG 0.363000 4 192 0.000602214 0.000662999 1 1 0 MYO19 80179 broad.mit.edu 37 17 34861237 34861237 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:34861237G>T ENST00000431794.3 - 19 2326 c.1804C>A c.(1804-1806)Ctg>Atg p.L602M MYO19_ENST00000268852.9_Intron NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 602 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AGCTGCTCCAGTGAGGCCTGC 0.592000 3 20 0.00024832 0.000276485 1 1 0 HSPG2 3339 broad.mit.edu 37 1 22203096 22203096 + Missense_Mutation SNP T T G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:22203096T>G ENST00000374695.3 - 22 2814 c.2735A>C c.(2734-2736)cAc>cCc p.H912P NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 912 Laminin EGF-like 4; truncated. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGTACTCAGGTGGAAAGAGCC 0.592000 4 17 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004813 248004813 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:248004813G>A ENST00000355784.2 - 1 441 c.386C>T c.(385-387)cCa>cTa p.P129L NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GTAGCGGAGTGGGCTGCAGAT 0.602000 4 73 0 0 1 0 0 TRIM31 11074 broad.mit.edu 37 6 30071491 30071491 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:30071491G>T ENST00000376734.3 - 9 1225 c.1100C>A c.(1099-1101)gCt>gAt p.A367D TRIM31_ENST00000540829.1_Missense_Mutation_p.A367D NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 367 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 GACTTTCCCAGCAGACGAGGC 0.532000 101 300 2.07075e-64 2.83645e-64 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62299309 62299309 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:62299309G>A ENST00000378024.4 - 5 2854 c.2580C>T c.(2578-2580)gaC>gaT p.D860D AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 860 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) GGACATCAATGTCCATTTTGG 0.453000 5 502 0 0 1 0 0 STYXL1 51657 broad.mit.edu 37 7 75633083 75633083 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:75633083G>T ENST00000451157.1 - 7 859 c.690C>A c.(688-690)caC>caA p.H230Q STYXL1_ENST00000340062.5_Missense_Mutation_p.H134Q|STYXL1_ENST00000248600.1_Missense_Mutation_p.H230Q|STYXL1_ENST00000359697.3_Missense_Mutation_p.H230Q|STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000431581.1_Missense_Mutation_p.H230Q Q9Y6J8 STYL1_HUMAN serine/threonine/tyrosine interacting-like 1 230 Tyrosine-protein phosphatase. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 TACCAATGAAGTGACACATGT 0.547000 7 108 5.4927e-09 6.67052e-09 1 1 0 AGBL5 60509 broad.mit.edu 37 2 27276327 27276327 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:27276327C>T ENST00000360131.4 + 3 432 c.273C>T c.(271-273)aaC>aaT p.N91N AGBL5_ENST00000323064.8_Silent_p.N91N NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 91 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCAAGATCAACATTATGAACA 0.542000 3 71 0 0 1 0 0 MBD4 8930 broad.mit.edu 37 3 129155758 129155758 + Silent SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:129155758A>T ENST00000429544.2 - 3 924 c.729T>A c.(727-729)atT>atA p.I243I MBD4_ENST00000249910.1_Silent_p.I243I|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000503197.1_Silent_p.I243I|MBD4_ENST00000507208.1_Silent_p.I243I|MBD4_ENST00000393278.2_Intron NM_001276270.1 NP_001263199.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 243 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 TAGTTTTCTTAATTGGGATTC 0.358000 Base excision repair (BER), DNA glycosylases 5 268 0 0 1 0 0 FAM222A 84915 broad.mit.edu 37 12 110205834 110205834 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:110205834G>A ENST00000538780.1 + 3 816 c.100G>A c.(100-102)Gcc>Acc p.A34T FAM222A-AS1_ENST00000541460.1_RNA|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.A34T NM_032829.2 NP_116218.2 Q5U5X8 CL034_HUMAN family with sequence similarity 222, member A 34 GGTGGCCAGCGCCATGCATTC 0.652000 37 3004 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63256443 63256443 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:63256443C>T ENST00000323865.3 - 1 1337 c.1104G>A c.(1102-1104)ctG>ctA p.L368L RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 368 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CGCAGAAGGGCAGAACAAGAG 0.572000 7 567 0 0 1 0 0 CDK4 1019 broad.mit.edu 37 12 58145072 58145072 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:58145072A>G ENST00000257904.6 - 3 637 c.272T>C c.(271-273)cTg>cCg p.L91P CDK4_ENST00000312990.6_Intron|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000549606.1_Intron NM_000075.3 NP_000066.1 P11802 CDK4_HUMAN cyclin-dependent kinase 4 91 Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) CTCAAACACCAGGGTTACCTT 0.532000 Mis melanoma Hereditary Melanoma 5 460 0 0 1 0 0 C10orf11 83938 broad.mit.edu 37 10 77818477 77818477 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:77818477T>A ENST00000372499.1 + 4 583 c.368T>A c.(367-369)gTa>gAa p.V123E C10orf11_ENST00000593699.1_3'UTR NM_032024.3 NP_114413.1 Q9H2I8 CJ011_HUMAN chromosome 10 open reading frame 11 123 LRRCT. endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 10 Prostate(51;0.0095)|all_epithelial(25;0.0221) GCCCAGAAAGTAACCAGACAA 0.483000 6 223 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186536215 186536215 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:186536215G>T ENST00000431808.1 - 17 3301 c.2738C>A c.(2737-2739)cCg>cAg p.P913Q SORBS2_ENST00000418609.1_Missense_Mutation_p.P817Q|SORBS2_ENST00000449407.2_Missense_Mutation_p.P457Q|SORBS2_ENST00000448662.2_Missense_Mutation_p.P474Q|SORBS2_ENST00000393528.3_Missense_Mutation_p.P479Q|SORBS2_ENST00000355634.5_Missense_Mutation_p.P1013Q|SORBS2_ENST00000437304.2_Missense_Mutation_p.P637Q|SORBS2_ENST00000319471.9_Missense_Mutation_p.P544Q|SORBS2_ENST00000284776.7_Missense_Mutation_p.P913Q|SORBS2_ENST00000498125.1_5'UTR O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 913 SH3 1. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GTATGAGATCGGGAAGATGCC 0.443000 5 120 3.59834e-05 4.06798e-05 1 1 0 TMEM33 55161 broad.mit.edu 37 4 41956089 41956089 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:41956089C>A ENST00000504986.1 + 7 982 c.617C>A c.(616-618)aCc>aAc p.T206N TMEM33_ENST00000325094.5_Missense_Mutation_p.T206N|TMEM33_ENST00000513702.1_Missense_Mutation_p.T206N NM_018126.2 NP_060596.2 P57088 TMM33_HUMAN transmembrane protein 33 206 integral to membrane|melanosome protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 TCTTGCAGGACCTTATTTAAT 0.343000 4 85 8.12818e-05 9.13645e-05 1 1 0 TRAV13-2 28670 broad.mit.edu 37 14 22386370 22386370 + RNA SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:22386370G>T ENST00000390439.2 + 0 8 ACCCGATGATGGAAGTAGCTC 0.403000 5 76 7.03913e-09 8.53096e-09 1 1 0 FER 2241 broad.mit.edu 37 5 108168555 108168555 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:108168555C>A ENST00000281092.4 + 4 676 c.292C>A c.(292-294)Cac>Aac p.H98N FER_ENST00000438717.2_Intron|FER_ENST00000502752.1_3'UTR|FER_ENST00000536402.1_Missense_Mutation_p.H98N NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 98 Important for interaction with membranes containing phosphoinositides. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) TGGACCTTTACACAGGCTCAC 0.393000 9 483 1.76689e-08 2.12822e-08 1 1 0 GMEB1 10691 broad.mit.edu 37 1 29019452 29019452 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:29019452A>T ENST00000373816.1 + 5 474 c.e5-1 GMEB1_ENST00000361872.4_Splice_Site|GMEB1_ENST00000294409.2_Splice_Site|GMEB1_ENST00000480454.1_Splice_Site NM_024482.2 NP_077808.1 Q9Y692 GMEB1_HUMAN glucocorticoid modulatory element binding protein 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|metal ion binding|transcription coactivator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4) 11 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) TTTTACTTTTAGTTCAATGAT 0.403000 6 176 0 0 1 0 0 EOGT 285203 broad.mit.edu 37 3 69026898 69026898 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:69026898C>T ENST00000383701.3 - 18 2197 c.1455G>A c.(1453-1455)ctG>ctA p.L485L EOGT_ENST00000540764.1_Silent_p.L384L|EOGT_ENST00000540955.1_Silent_p.L209L|EOGT_ENST00000295571.5_Silent_p.L401L NM_001278689.1 NP_001265618.1 EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase GGTGCTCCCCCAGGGTTGGAT 0.448000 3 35 0 0 1 0 0 ELF4 2000 broad.mit.edu 37 X 129201223 129201223 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:129201223G>T ENST00000308167.5 - 9 1844 c.1465C>A c.(1465-1467)Ctt>Att p.L489I ELF4_ENST00000335997.7_Missense_Mutation_p.L489I NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 489 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 CCAGCCAGAAGTTGGGGGAGG 0.657000 T ERG AML 3 16 0.004672 0.0050124 1 1 0 BCL9 607 broad.mit.edu 37 1 147095648 147095648 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:147095648G>A ENST00000234739.3 + 10 3909 c.3169G>A c.(3169-3171)Ggc>Agc p.G1057S NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1057 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) TCTAGGAATGGGCATTAATAC 0.383000 T """IGH@, IGL@""" B-ALL 4 398 0 0 1 0 0 KCNG4 93107 broad.mit.edu 37 16 84270906 84270906 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:84270906C>T ENST00000568181.1 - 2 306 c.186G>A c.(184-186)ctG>ctA p.L62L KCNG4_ENST00000308251.4_Silent_p.L62L Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 62 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 CCACGTTGATCAGGATCTCCT 0.642000 40 206 0 0 1 0 0 TCOF1 6949 broad.mit.edu 37 5 149755343 149755343 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:149755343C>T ENST00000451292.1 + 12 1872 c.1764C>T c.(1762-1764)ccC>ccT p.P588P TCOF1_ENST00000504761.2_Silent_p.P588P|TCOF1_ENST00000323668.7_Silent_p.P511P|TCOF1_ENST00000394269.3_Silent_p.P588P|TCOF1_ENST00000377797.3_Silent_p.P588P|TCOF1_ENST00000439160.2_Silent_p.P588P|TCOF1_ENST00000445265.2_Silent_p.P511P|TCOF1_ENST00000513346.1_Silent_p.P588P Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 588 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAAGGGGCCCCCTCAGAAGG 0.612000 9 71 0 0 1 0 0 CST5 1473 broad.mit.edu 37 20 23860131 23860131 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:23860131C>A ENST00000304710.4 - 1 256 c.183G>T c.(181-183)aaG>aaT p.K61N NM_001900.4 NP_001891.2 P28325 CYTD_HUMAN cystatin D 61 extracellular region cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 AGTACTCATCCTTATTAATGA 0.567000 196 1491 8.64784e-51 1.17907e-50 1 1 0 DGKA 1606 broad.mit.edu 37 12 56347133 56347133 + Splice_Site SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:56347133G>T ENST00000331886.5 + 23 2517 c.e23-1 DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000394147.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) GCCTCCTATAGCACCACAAAA 0.458000 6 838 0.000602214 0.000662999 1 1 0 LMO1 4004 broad.mit.edu 37 11 8248620 8248620 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:8248620A>G ENST00000335790.3 - 3 762 c.267T>C c.(265-267)gcT>gcC p.A89A LMO1_ENST00000534484.1_Silent_p.A78A|LMO1_ENST00000428101.2_Silent_p.A88A NM_002315.2 NP_002306.1 P25800 RBTN1_HUMAN LIM domain only 1 (rhombotin 1) 89 LIM zinc-binding 2. cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1) 5 Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203) TGCTGCAAGCAGCACAGTTCC 0.617000 """T, A""" TRD@ """T-ALL, neuroblastoma""" neuroblastoma 10 1178 0 0 1 0 0 BAG6 7917 broad.mit.edu 37 6 31612763 31612763 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:31612763C>T ENST00000404765.2 - 10 1618 c.1329G>A c.(1327-1329)caG>caA p.Q443Q BAG6_ENST00000439687.2_Silent_p.Q443Q|BAG6_ENST00000362049.6_Silent_p.Q443Q|BAG6_ENST00000211379.5_Silent_p.Q443Q|BAG6_ENST00000375976.4_Silent_p.Q443Q|BAG6_ENST00000375964.6_Silent_p.Q449Q P46379 BAG6_HUMAN BCL2-associated athanogene 6 449 4 X 29 AA approximate repeats.|Pro-rich. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding p.Q443Q(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 GTTCCACACTCTGGTGGGAAA 0.587000 5 322 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145359175 145359175 + Missense_Mutation SNP G G C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:145359175G>C ENST00000342960.5 + 72 9150 c.9115G>C c.(9115-9117)Gtt>Ctt p.V3039L NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3039 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TGGCTTGGCTGTTGACATGGA 0.463000 7 949 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102496167 102496167 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:102496167G>A ENST00000360184.4 + 50 9818 c.9654G>A c.(9652-9654)ctG>ctA p.L3218L NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3218 Stalk (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TAGAAGAACTGCGTCGTGACT 0.483000 10 989 0 0 1 0 0 IGSF11 152404 broad.mit.edu 37 3 118623533 118623533 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:118623533A>T ENST00000354673.2 - 8 1193 c.813T>A c.(811-813)aaT>aaA p.N271K IGSF11_ENST00000441144.2_Missense_Mutation_p.N247K|IGSF11_ENST00000491903.1_Missense_Mutation_p.N244K|IGSF11_ENST00000393775.2_Missense_Mutation_p.N272K|IGSF11_ENST00000489689.1_Missense_Mutation_p.N248K|IGSF11_ENST00000425327.2_Missense_Mutation_p.N271K NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 272 cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CCTCCTCTTTATTTTTGCTTC 0.343000 7 158 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 228396 228396 + Missense_Mutation SNP G G C rs1041946 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:228396G>C ENST00000264932.6 + 6 833 c.718G>C c.(718-720)Gag>Cag p.E240Q SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q|SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 240 E -> Q (in dbSNP:rs1041946). nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity p.E240Q(2) NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) ACTGTGCATAGAGGACGGGTC 0.418000 Familial Paragangliomas 4 98 0 0 1 0 0 FOLR2 2350 broad.mit.edu 37 11 71929729 71929729 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:71929729C>T ENST00000449475.2 + 2 450 c.152C>T c.(151-153)gCc>gTc p.A51V FOLR2_ENST00000298223.6_Missense_Mutation_p.A34V|FOLR2_ENST00000454954.2_Intron P14207 FOLR2_HUMAN folate receptor 2 (fetal) 34 folic acid transport anchored to membrane|extracellular region|membrane fraction|plasma membrane folic acid binding|receptor activity breast(3)|large_intestine(3)|ovary(1)|skin(1) 8 Folic Acid(DB00158) TGTATGGATGCCAAGCACCAC 0.542000 4 203 0 0 1 0 0 ZNF75D 7626 broad.mit.edu 37 X 134427961 134427961 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:134427961A>T ENST00000370766.3 - 3 2815 c.106T>A c.(106-108)Tac>Aac p.Y36N ZNF75D_ENST00000370764.1_Missense_Mutation_p.Y36N|ZNF75D_ENST00000494295.1_Intron NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 36 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 TTTGTGCTGTATTTCTTACTC 0.507000 8 783 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23080103 23080103 + Missense_Mutation SNP G G A rs148627286 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:23080103G>A ENST00000219689.7 - 16 3322 c.3323C>T c.(3322-3324)tCa>tTa p.S1108L USP31_ENST00000567975.1_Missense_Mutation_p.S401L NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 1108 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) CGAAGGAGATGACACGGAGTC 0.582000 7 363 0 0 1 0 0 SUSD5 26032 broad.mit.edu 37 3 33195040 33195040 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:33195040C>A ENST00000309558.3 - 5 1501 c.1084G>T c.(1084-1086)Gtg>Ttg p.V362L NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 362 cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CTGCTCACCACTGGATCTCCT 0.552000 12 384 9.31168e-06 1.08177e-05 1 1 0 AKAP9 10142 broad.mit.edu 37 7 91735015 91735015 + Nonsense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:91735015G>A ENST00000359028.2 + 47 11591 c.11366G>A c.(11365-11367)tGg>tAg p.W3789* AKAP9_ENST00000356239.3_Nonsense_Mutation_p.W3785*|AKAP9_ENST00000358100.2_Nonsense_Mutation_p.W3735* Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3789 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus 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) GTTCGACGGTGGCATCGAGTC 0.333000 T BRAF papillary thyroid 64 86 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73150893 73150893 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:73150893T>C ENST00000377110.2 - 25 5343 c.5100A>G c.(5098-5100)caA>caG p.Q1700Q TRPM3_ENST00000396285.1_Silent_p.Q1559Q|TRPM3_ENST00000360823.2_Silent_p.Q1562Q|TRPM3_ENST00000396292.4_Silent_p.Q1572Q|TRPM3_ENST00000357533.2_Silent_p.Q1704Q|TRPM3_ENST00000423814.3_Silent_p.Q1727Q|TRPM3_ENST00000377105.1_Silent_p.Q1559Q|TRPM3_ENST00000377106.1_Silent_p.Q1572Q|TRPM3_ENST00000408909.2_Silent_p.Q1559Q|TRPM3_ENST00000358082.3_Silent_p.Q1562Q|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396280.5_Silent_p.Q1549Q NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1725 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 TTTCAAAGCTTTGGAAAGCCG 0.507000 3 128 0 0 1 0 0 BPIFC 254240 broad.mit.edu 37 22 32833840 32833840 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:32833840T>A ENST00000397452.1 - 8 766 c.e8-2 BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site Q8NFQ6 BPIL2_HUMAN BPI fold containing family C extracellular region lipopolysaccharide binding|phospholipid binding TGGTTAAAACTAAATAACCAA 0.303000 4 55 0 0 1 0 0 VANGL2 57216 broad.mit.edu 37 1 160395071 160395071 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:160395071G>A ENST00000368061.2 + 8 1943 c.1469G>A c.(1468-1470)aGc>aAc p.S490N NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 490 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) CTGGTGGTCAGCACCAAGAAG 0.527000 4 346 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19665832 19665832 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:19665832G>A ENST00000328041.6 + 12 1348 c.1151G>A c.(1150-1152)gGg>gAg p.G384E NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 384 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GTGGAGAATGGGACAGGGCCC 0.522000 4 161 0 0 1 0 0 PTRHD1 391356 broad.mit.edu 37 2 25013321 25013321 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:25013321C>A ENST00000328379.4 - 2 386 c.382G>T c.(382-384)Gaa>Taa p.E128* PTRHD1_ENST00000487316.1_5'UTR NM_001013663.1 NP_001013685.1 Q6GMV3 PTRD1_HUMAN peptidyl-tRNA hydrolase domain containing 1 128 translation aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1) 6 TGGCCCACTTCTTCCTTGGGG 0.493000 14 147 1.5739e-10 1.96404e-10 1 1 0 ATP6V0D1 9114 broad.mit.edu 37 16 67472930 67472930 + Nonsense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:67472930G>A ENST00000290949.3 - 6 910 c.760C>T c.(760-762)Cag>Tag p.Q254* ATP6V0D1_ENST00000540149.1_Nonsense_Mutation_p.Q295*|ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000602876.1_Nonsense_Mutation_p.Q177* NM_004691.4 NP_004682.2 P61421 VA0D1_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 254 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex large_intestine(3)|lung(3)|urinary_tract(2) 8 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101) CGAGCCAGCTGCGCCAGGCCC 0.587000 6 309 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26856137 26856137 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:26856137C>G ENST00000226247.2 + 4 754 c.725C>G c.(724-726)cCc>cGc p.P242R FOXN1_ENST00000579795.1_Missense_Mutation_p.P242R NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 242 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) GGCAGCTACCCCATACCCTAC 0.582000 7 290 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133372453 133372453 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:133372453A>G ENST00000204726.3 - 11 3012 c.2454T>C c.(2452-2454)gcT>gcC p.A818A GOLGA3_ENST00000545875.1_Silent_p.A818A|GOLGA3_ENST00000450791.2_Silent_p.A818A|GOLGA3_ENST00000537452.1_Silent_p.A818A|GOLGA3_ENST00000456883.2_Silent_p.A818A NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 818 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CGGATTTGATAGCTAATTCTT 0.433000 4 263 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3214646 3214646 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:3214646G>A ENST00000380059.3 - 6 756 c.655C>T c.(655-657)Cac>Tac p.H219Y SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.H176Y|SLC4A11_ENST00000380056.3_Missense_Mutation_p.H192Y NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 192 cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GACAGCAGGTGGACTGAGGAA 0.652000 4 62 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 179974674 179974674 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:179974674G>A ENST00000428443.3 - 18 2359 c.2043C>T c.(2041-2043)ctC>ctT p.L681L NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 681 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) GCTGCCTTTTGAGATTAACTA 0.418000 4 127 0 0 1 0 0 AKR1B10 57016 broad.mit.edu 37 7 134217801 134217801 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:134217801G>A ENST00000359579.4 + 4 717 c.397G>A c.(397-399)Ggt>Agt p.G133S AKR1B10_ENST00000475559.1_3'UTR NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 133 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 TAATGCCATCGGTGGAAAAGC 0.463000 8 1049 0 0 1 0 0 SLC20A1 6574 broad.mit.edu 37 2 113417337 113417337 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:113417337A>G ENST00000272542.3 + 8 2144 c.1605A>G c.(1603-1605)gtA>gtG p.V535V NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 535 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 GCAATGACGTAAGGTCAGTTG 0.458000 3 172 0 0 1 0 0 C18orf21 83608 broad.mit.edu 37 18 33557371 33557371 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:33557371A>T ENST00000592875.1 + 4 946 c.e4-1 C18orf21_ENST00000333234.5_Splice_Site NM_031446.4 NP_113634.3 Q32NC0 CR021_HUMAN chromosome 18 open reading frame 21 endometrium(1)|kidney(1)|large_intestine(1)|skin(2) 5 TTTTTATGGTAGTTGATCACT 0.358000 5 152 0 0 1 0 0 SERINC1 57515 broad.mit.edu 37 6 122774917 122774917 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:122774917G>T ENST00000368454.1 - 7 916 c.587C>A c.(586-588)gCa>gAa p.A196E SERINC1_ENST00000339697.3_Missense_Mutation_p.A196E Q9NRX5 SERC1_HUMAN serine incorporator 1 196 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1) 13 GBM - Glioblastoma multiforme(226;0.126) AAGCTTACCTGCATACCAACA 0.368000 33 231 3.93418e-24 5.17239e-24 1 1 0 SLC24A5 283652 broad.mit.edu 37 15 48434343 48434343 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:48434343T>A ENST00000341459.3 + 9 1371 c.1298T>A c.(1297-1299)gTa>gAa p.V433E MYEF2_ENST00000267836.6_3'UTR|SLC24A5_ENST00000449382.2_Missense_Mutation_p.V373E|MYEF2_ENST00000324324.7_3'UTR NM_205850.2 NP_995322.1 Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 433 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1) 27 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) CCTGCAGAAGTAAACAGCAGA 0.358000 7 259 0 0 1 0 0 ASIC1 41 broad.mit.edu 37 12 50472314 50472314 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:50472314G>A ENST00000228468.4 + 6 1333 c.948G>A c.(946-948)acG>acA p.T316T ASIC1_ENST00000552438.1_Silent_p.T350T|ASIC1_ENST00000447966.2_Silent_p.T316T NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 316 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) ACTGTGAGACGCGCTACCTGG 0.612000 13 920 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101295457 101295457 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:101295457G>A ENST00000538618.1 + 4 392 c.392G>A c.(391-393)cGt>cAt p.R131H ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000551148.1_3'UTR|ANO4_ENST00000299222.9_5'UTR Q32M45 ANO4_HUMAN anoctamin 4 0 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 GCTGAAAAGCGTTTGCAAATC 0.507000 HNSCC(74;0.22) 20 184 0 0 1 0 0 ZNF740 283337 broad.mit.edu 37 12 53580224 53580224 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:53580224G>T ENST00000416904.3 + 6 868 c.423G>T c.(421-423)aaG>aaT p.K141N NM_001004304.3 NP_001004304.1 Q8NDX6 ZN740_HUMAN zinc finger protein 740 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2) 3 TCATCCAGAAGTACCACCTGG 0.502000 19 52 1.96292e-10 2.43916e-10 1 1 0 CUX2 23316 broad.mit.edu 37 12 111776090 111776090 + Splice_Site SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:111776090G>A ENST00000261726.6 + 20 3351 c.3196_splice c.e20-1 p.G1066_splice NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1066 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CTATCCCCAGGGCAGCGGCTG 0.622000 13 28 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7691473 7691473 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:7691473A>G ENST00000572933.1 + 44 8271 c.6811A>G c.(6811-6813)Aac>Gac p.N2271D DNAH2_ENST00000389173.2_Missense_Mutation_p.N2271D Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2271 AAA 2 (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) TAAGAAGGACAACTGCAAGGA 0.557000 10 327 0 0 1 0 0 ZNF461 92283 broad.mit.edu 37 19 37130712 37130712 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:37130712T>A ENST00000588268.1 - 6 762 c.535A>T c.(535-537)Act>Tct p.T179S ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.T156S NM_153257.2 NP_694989.2 Q8TAF7 ZN461_HUMAN zinc finger protein 461 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GTGAGTAAAGTATGTTGGCTA 0.333000 5 252 0 0 1 0 0 ANKRD52 283373 broad.mit.edu 37 12 56638938 56638938 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:56638938C>G ENST00000267116.7 - 22 2562 c.2441G>C c.(2440-2442)aGc>aCc p.S814T NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 814 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 CGAAAACGGGCTGTGTTCAAG 0.522000 12 920 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43707823 43707823 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:43707823C>T ENST00000263801.3 - 23 5295 c.5043G>A c.(5041-5043)aaG>aaA p.K1681K TP53BP1_ENST00000450115.2_Silent_p.K1686K|TP53BP1_ENST00000382039.3_Silent_p.K1636K|TP53BP1_ENST00000382044.4_Silent_p.K1686K NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1681 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TGCGACCTCGCTTGGCAGGGG 0.507000 Other conserved DNA damage response genes 4 435 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32145408 32145408 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:32145408C>A ENST00000312561.4 + 6 5597 c.5183C>A c.(5182-5184)aCc>aAc p.T1728N KIAA1551_ENST00000535596.1_3'UTR NM_018169.3 NP_060639.3 KIAA1551 ATGTTTCAAACCTACAAACAG 0.368000 20 204 0.014323 0.0152279 1 1 0 FCHSD1 89848 broad.mit.edu 37 5 141026213 141026213 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:141026213C>T ENST00000435817.2 - 11 1051 c.1001G>A c.(1000-1002)aGc>aAc p.S334N FCHSD1_ENST00000522126.1_Missense_Mutation_p.S258N|FCHSD1_ENST00000522783.1_Missense_Mutation_p.S332N|FCHSD1_ENST00000523856.1_5'UTR NM_033449.2 NP_258260.1 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 334 p.S334I(1) FCHSD1/BRAF(2) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCAGCTCGGCTGGTCAAGCG 0.602000 5 16 0 0 1 0 0 SCMH1 22955 broad.mit.edu 37 1 41579133 41579133 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:41579133C>A ENST00000402904.2 - 8 905 c.537G>T c.(535-537)aaG>aaT p.K179N SCMH1_ENST00000361191.5_Missense_Mutation_p.K118N|SCMH1_ENST00000372595.1_Missense_Mutation_p.K118N|SCMH1_ENST00000326197.7_Missense_Mutation_p.K179N|SCMH1_ENST00000337495.5_Missense_Mutation_p.K189N|SCMH1_ENST00000397171.2_Missense_Mutation_p.K118N|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000361705.3_Missense_Mutation_p.K132N|SCMH1_ENST00000372596.1_Missense_Mutation_p.K118N|SCMH1_ENST00000397174.2_Missense_Mutation_p.K159N|SCMH1_ENST00000372597.1_Missense_Mutation_p.K132N NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 179 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) AATGAGGGTTCTTCCTGTCCA 0.512000 6 62 0.0215528 0.0225882 1 1 0 SHROOM3 57619 broad.mit.edu 37 4 77652058 77652058 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:77652058G>A ENST00000296043.6 + 4 1510 c.557G>A c.(556-558)gGc>gAc p.G186D SHROOM3_ENST00000473602.1_3'UTR NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 186 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGTATGATCGGCCCTCCTTGG 0.498000 6 441 0 0 1 0 0 AXIN1 8312 broad.mit.edu 37 16 347159 347159 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:347159C>A ENST00000262320.3 - 7 2223 c.1852G>T c.(1852-1854)Gag>Tag p.E618* AXIN1_ENST00000354866.3_Nonsense_Mutation_p.E618* NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 618 Interaction with PPP2CA.|Interaction with RNF111. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CCTGGCACCTCGGTGCTGGCG 0.612000 4 112 1 1 1 1 0 FAP 2191 broad.mit.edu 37 2 163044875 163044875 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:163044875T>A ENST00000188790.4 - 20 1827 c.e20-2 FAP_ENST00000443424.1_Splice_Site NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity p.?(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 CCACCATACCTAAAGGAAAAA 0.383000 4 101 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30092540 30092540 + RNA SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:30092540G>A ENST00000567636.1 + 0 915 NR_003558.1 GCCCAGCGAGGTCATGATGAT 0.488000 12 500 0 0 1 0 0 OR9G4 283189 broad.mit.edu 37 11 56510859 56510859 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:56510859G>A ENST00000302957.3 - 1 428 c.429C>T c.(427-429)aaC>aaT p.N143N NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 AAAGCAATGGGTTACAAATTG 0.498000 40 217 0 0 1 0 0 CCDC91 55297 broad.mit.edu 37 12 28458580 28458580 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:28458580A>T ENST00000545336.1 + 7 528 c.e7-1 CCDC91_ENST00000381256.1_Splice_Site|CCDC91_ENST00000539107.1_Splice_Site|CCDC91_ENST00000306172.5_Splice_Site|CCDC91_ENST00000381259.1_Splice_Site|CCDC91_ENST00000540401.1_Splice_Site Q7Z6B0 CCD91_HUMAN coiled-coil domain containing 91 protein transport Golgi apparatus|membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1) 22 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) GTTTTTCTTTAGTATCTGGAG 0.393000 6 259 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125514252 125514252 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:125514252C>A ENST00000241305.3 - 13 2098 c.1944G>T c.(1942-1944)gtG>gtT p.V648V CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 648 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) GTGAATCTCTCACCAAGCCTT 0.498000 8 223 0.00621372 0.00665432 1 1 0 PGLYRP4 57115 broad.mit.edu 37 1 153314103 153314103 + Splice_Site SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:153314103C>A ENST00000368739.3 - 6 971 c.613_splice c.e6+1 p.A205_splice PGLYRP4_ENST00000359650.5_Splice_Site_p.A209_splice Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 209 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AAGGTCTTACCCTTCTTCAGG 0.542000 6 287 3.59834e-05 4.06798e-05 1 1 0 RBM19 9904 broad.mit.edu 37 12 114385216 114385216 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:114385216C>A ENST00000545145.2 - 11 1408 c.1330G>T c.(1330-1332)Ggt>Tgt p.G444C RBM19_ENST00000392561.3_Missense_Mutation_p.G444C|RBM19_ENST00000261741.5_Missense_Mutation_p.G444C NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 444 RRM 3. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) AATGCAAAACCCTTGGGTTTC 0.602000 19 99 4.35082e-09 5.31666e-09 1 1 0 FLT3 2322 broad.mit.edu 37 13 28592645 28592645 + Nonsense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr13:28592645G>A ENST00000380982.4 - 20 2581 c.2500C>T c.(2500-2502)Cga>Tga p.R834* FLT3_ENST00000241453.7_Nonsense_Mutation_p.R834*|FLT3_ENST00000537084.1_Intron P36888 FLT3_HUMAN fms-related tyrosine kinase 3 834 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.R834_D835del(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) ATGATATCTCGAGCCAATCCA 0.453000 """Mis, O""" """AML, ALL""" 4 72 0 0 1 0 0 C2orf42 54980 broad.mit.edu 37 2 70396783 70396783 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:70396783C>A ENST00000264434.2 - 6 1429 c.1050G>T c.(1048-1050)caG>caT p.Q350H C2orf42_ENST00000420306.1_Missense_Mutation_p.Q350H NM_017880.1 NP_060350.1 Q9NWW7 CB042_HUMAN chromosome 2 open reading frame 42 350 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 CATCTAACAGCTGACCACAGG 0.388000 3 39 0.115264 0.118483 1 1 0 C6 729 broad.mit.edu 37 5 41149560 41149560 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:41149560C>T ENST00000263413.3 - 17 2670 c.2406G>A c.(2404-2406)gtG>gtA p.V802V C6_ENST00000337836.5_Silent_p.V802V NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 802 C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTGTGTCAAACACACAGAGAT 0.398000 6 317 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82416143 82416143 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:82416143G>T ENST00000370728.1 + 9 2114 c.1469G>T c.(1468-1470)cGa>cTa p.R490L LPHN2_ENST00000359929.3_Missense_Mutation_p.R490L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.R490L|LPHN2_ENST00000394879.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370730.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370713.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370721.1_Missense_Mutation_p.R428L|LPHN2_ENST00000370723.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370725.1_Missense_Mutation_p.R490L|LPHN2_ENST00000271029.4_Missense_Mutation_p.R490L|LPHN2_ENST00000319517.6_Missense_Mutation_p.R490L|LPHN2_ENST00000370727.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370717.2_Missense_Mutation_p.R490L|LPHN2_ENST00000335786.5_Missense_Mutation_p.R490L O95490 LPHN2_HUMAN latrophilin 2 490 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ATGGTTGAACGACCATGCCCT 0.383000 21 136 6.12954e-19 8.00509e-19 1 1 0 GCOM1 145781 broad.mit.edu 37 15 57921931 57921931 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:57921931G>A ENST00000574161.1 + 6 676 c.557G>A c.(556-558)aGc>aAc p.S186N GCOM1_ENST00000587652.1_Missense_Mutation_p.S186N|GCOM1_ENST00000572390.1_Missense_Mutation_p.S186N|GCOM1_ENST00000380561.2_Missense_Mutation_p.S155N|GCOM1_ENST00000380568.3_Missense_Mutation_p.S186N|MYZAP_ENST00000267853.5_Missense_Mutation_p.S186N|GCOM1_ENST00000396180.1_Missense_Mutation_p.S155N|MYZAP_ENST00000380565.4_Missense_Mutation_p.S186N|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.S186N|GCOM1_ENST00000380560.2_Missense_Mutation_p.S117N NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 186 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 TTGGAAAACAGCAACATTAAG 0.458000 7 697 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111697676 111697676 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:111697676G>T ENST00000435970.1 - 15 2464 c.1648C>A c.(1648-1650)Cct>Act p.P550T REV3L_ENST00000368802.3_Missense_Mutation_p.P628T|REV3L_ENST00000358835.3_Missense_Mutation_p.P628T|REV3L_ENST00000368805.1_Missense_Mutation_p.P628T O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 628 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AAAGATCCAGGGTATTTCATA 0.323000 DNA polymerases (catalytic subunits) 4 50 0.217242 0.220613 1 1 0 ZBTB22 9278 broad.mit.edu 37 6 33283506 33283506 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:33283506A>G ENST00000431845.2 - 2 1339 c.1188T>C c.(1186-1188)ctT>ctC p.L396L ZBTB22_ENST00000418724.1_Silent_p.L396L NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CTGAGTCATCAAGACCTGCCA 0.612000 8 424 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2108854 2108854 + Missense_Mutation SNP G G T rs137854263 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:2108854G>T ENST00000219476.3 + 10 1585 c.955G>T c.(955-957)Gtg>Ttg p.V319L TSC2_ENST00000382538.6_Missense_Mutation_p.V270L|TSC2_ENST00000568454.1_Missense_Mutation_p.V330L|TSC2_ENST00000353929.4_Missense_Mutation_p.V319L|TSC2_ENST00000350773.4_Missense_Mutation_p.V319L|TSC2_ENST00000401874.2_Missense_Mutation_p.V319L|TSC2_ENST00000439673.2_Missense_Mutation_p.V282L NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 319 Required for interaction with TSC1. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) GCCGACATCTGTGTTGCCATC 0.607000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 11 31 0.00136819 0.00149511 1 1 0 APOL6 80830 broad.mit.edu 37 22 36054744 36054744 + Nonsense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:36054744G>T ENST00000409652.3 + 3 409 c.133G>T c.(133-135)Gaa>Taa p.E45* NM_030641.3 NP_085144.1 Q9BWW8 APOL6_HUMAN apolipoprotein L, 6 45 lipoprotein metabolic process cytoplasm|extracellular region lipid binding|lipid transporter activity haematopoietic_and_lymphoid_tissue(1)|lung(4) 5 ATTTTTGAGAGAATTTCCCAG 0.443000 9 49 1.12685e-05 1.30653e-05 1 1 0 OR7G3 390883 broad.mit.edu 37 19 9237454 9237454 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:9237454G>A ENST00000305444.2 - 1 172 c.173C>T c.(172-174)cCc>cTc p.P58L NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 GAAGTACATGGGGGTGTGGAG 0.557000 4 356 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55527162 55527162 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:55527162G>A ENST00000219070.4 + 9 1938 c.1429G>A c.(1429-1431)Ggc>Agc p.G477S MMP2_ENST00000543485.1_Missense_Mutation_p.G401S|MMP2_ENST00000570308.1_Missense_Mutation_p.G401S|MMP2_ENST00000437642.2_Missense_Mutation_p.G427S NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 477 Hemopexin-like 1.|Required for inhibitor TIMP2 binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) TGTATTTGATGGCATCGCTCA 0.567000 7 490 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039464 2039464 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:2039464A>T ENST00000382203.1 + 4 564 c.e4-1 SMARCA2_ENST00000382194.1_Splice_Site|SMARCA2_ENST00000349721.2_Splice_Site|SMARCA2_ENST00000357248.2_Splice_Site|SMARCA2_ENST00000491574.1_Splice_Site P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GTTTTATTTTAGGTTATATGT 0.493000 6 94 0 0 1 0 0 DALRD3 55152 broad.mit.edu 37 3 49054074 49054074 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:49054074G>A ENST00000440857.1 - 8 1235 c.533C>T c.(532-534)gCa>gTa p.A178V DALRD3_ENST00000341949.4_Missense_Mutation_p.A345V|DALRD3_ENST00000441576.2_Missense_Mutation_p.A345V|DALRD3_ENST00000395462.4_Missense_Mutation_p.A178V|DALRD3_ENST00000313778.5_Missense_Mutation_p.A178V Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 345 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ATGCTTCAGTGCTGAGGCCTT 0.587000 7 100 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152324819 152324819 + Missense_Mutation SNP A A C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:152324819A>C ENST00000388718.5 - 3 5515 c.5443T>G c.(5443-5445)Ttc>Gtc p.F1815V FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1815 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) CTTTGTGAGAACCCTGAGTGC 0.532000 7 250 0 0 1 0 0 ITCH 83737 broad.mit.edu 37 20 33000357 33000357 + Silent SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:33000357G>T ENST00000374864.4 + 5 462 c.249G>T c.(247-249)gtG>gtT p.V83V ITCH_ENST00000535650.1_5'UTR|ITCH_ENST00000262650.6_Silent_p.V83V NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 83 C2. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 ATTTTCGTGTGTGGAGTCACC 0.303000 8 59 9.05144e-12 1.14161e-11 1 1 0 L1TD1 54596 broad.mit.edu 37 1 62675572 62675572 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:62675572A>T ENST00000498273.1 + 4 1421 c.1126A>T c.(1126-1128)Act>Tct p.T376S NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 376 Glu-rich. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 AAACTTAGAGACTCAAGAGGA 0.463000 3 63 0 0 1 0 0 ST3GAL2 6483 broad.mit.edu 37 16 70422317 70422317 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:70422317C>T ENST00000393640.4 - 3 2773 c.666G>A c.(664-666)ctG>ctA p.L222L RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.L222L Q16842 SIA4B_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 2 222 amino sugar metabolic process extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 11 Ovarian(137;0.0694) ACAGAAGGTCCAGGACCTTGA 0.582000 4 300 0 0 1 0 0 ACKR4 51554 broad.mit.edu 37 3 132319446 132319446 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:132319446T>A ENST00000249887.2 + 2 301 c.205T>A c.(205-207)Tac>Aac p.Y69N ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron NM_016557.2|NM_178445.2 NP_057641.1|NP_848540.1 atypical chemokine receptor 4 TTATGCCTATTACAAGAAACA 0.398000 5 334 0 0 1 0 0 FAM169A 26049 broad.mit.edu 37 5 74092013 74092013 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:74092013T>A ENST00000389156.4 - 11 1194 c.e11-2 FAM169A_ENST00000380515.3_Splice_Site|FAM169A_ENST00000510496.1_Splice_Site NM_015566.2 NP_056381.1 Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 GACTCCAATCTAAAAAACAAA 0.348000 5 125 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11726270 11726270 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:11726270G>A ENST00000262442.3 + 48 9233 c.9165G>A c.(9163-9165)ttG>ttA p.L3055L DNAH9_ENST00000454412.2_Silent_p.L3055L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3055 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGAGCTTGTTGCACAGGCACA 0.512000 4 107 0 0 1 0 0 GPRC5B 51704 broad.mit.edu 37 16 19884089 19884089 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:19884089C>G ENST00000300571.2 - 2 270 c.79G>C c.(79-81)Gcc>Ccc p.A27P GPRC5B_ENST00000569479.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A53P NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 27 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 TTTTCAGAGGCCACCGAGGTG 0.577000 3 78 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45749891 45749891 + Silent SNP G G A rs71313004 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:45749891G>A ENST00000357450.4 - 21 3239 c.3240C>T c.(3238-3240)atC>atT p.I1080I SMC1B_ENST00000404354.3_Silent_p.I1080I NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 1080 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GCTTCTTGTAGATTTGATCAA 0.398000 14 146 0 0 1 0 0 CCDC113 29070 broad.mit.edu 37 16 58301427 58301427 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:58301427G>T ENST00000219299.4 + 7 907 c.828G>T c.(826-828)aaG>aaT p.K276N CCDC113_ENST00000443128.2_Missense_Mutation_p.K222N NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 276 protein complex large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 ATCTGGACAAGGAGATCTTGC 0.398000 9 136 3.86212e-05 4.3495e-05 1 1 0 GOLGB1 2804 broad.mit.edu 37 3 121413623 121413623 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:121413623A>T ENST00000393667.3 - 13 5857 c.5747T>A c.(5746-5748)cTa>cAa p.L1916Q GOLGB1_ENST00000340645.5_Missense_Mutation_p.L1911Q NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 1911 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) TGTCTCCTTTAGTTTGGTAAC 0.378000 8 266 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120470993 120470993 + Silent SNP G G A rs78293159 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:120470993G>A ENST00000355622.6 + 2 347 c.246G>A c.(244-246)gtG>gtA p.V82V TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Silent_p.V42V NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 82 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 AACTGCAGGTGCTGGATTTAT 0.458000 55 361 0 0 1 0 0 ETV7 51513 broad.mit.edu 37 6 36353326 36353326 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:36353326G>A ENST00000373738.1 - 2 972 c.127C>T c.(127-129)Ctg>Ttg p.L43L ETV7_ENST00000538992.1_Intron|ETV7_ENST00000339796.5_Silent_p.L43L|ETV7_ENST00000373737.4_Silent_p.L43L|ETV7_ENST00000340181.4_Silent_p.L43L NM_001207036.1 NP_001193965.1 Q9Y603 ETV7_HUMAN ets variant 7 43 PNT. organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 CTTCCTGGCAGCTTGCAGATC 0.483000 4 382 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135153480 135153480 + Nonsense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:135153480A>T ENST00000372169.2 - 21 7001 c.6819T>A c.(6817-6819)taT>taA p.Y2273* SETX_ENST00000393220.1_Nonsense_Mutation_p.Y2273*|SETX_ENST00000224140.5_Nonsense_Mutation_p.Y2273* Q7Z333 SETX_HUMAN senataxin 2273 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AGTTTCTGTTATAAACATAAT 0.368000 5 145 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36069652 36069652 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:36069652A>G ENST00000303965.4 - 33 5481 c.4992T>C c.(4990-4992)aaT>aaC p.N1664N NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1664 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TAGCTTTGCTATTCCTGTCCT 0.448000 8 372 0 0 1 0 0 AP5M1 55745 broad.mit.edu 37 14 57741171 57741171 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:57741171C>T ENST00000261558.3 + 2 690 c.284C>T c.(283-285)cCa>cTa p.P95L AP5M1_ENST00000431972.2_Missense_Mutation_p.P109L NM_018229.3 NP_060699.3 Q9H0R1 MUDEN_HUMAN adaptor-related protein complex 5, mu 1 subunit 95 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex GAACTCTGGCCAGTTGTTGCT 0.423000 3 74 0 0 1 0 0 TRMT12 55039 broad.mit.edu 37 8 125463612 125463612 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:125463612C>G ENST00000328599.3 + 1 565 c.444C>G c.(442-444)ttC>ttG p.F148L TRMT12_ENST00000521443.1_Intron NM_017956.3 NP_060426.2 Q53H54 TYW2_HUMAN tRNA methyltransferase 12 homolog (S. cerevisiae) 148 tRNA processing methyltransferase activity breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) AAGACTGTTTCCAAGCCAAGC 0.567000 6 72 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47103733 47103733 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:47103733A>T ENST00000409792.3 - 14 6255 c.6213T>A c.(6211-6213)aaT>aaA p.N2071K SETD2_ENST00000492397.1_5'UTR NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2071 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TTTTCTCTTTATTTTGAGTTT 0.493000 """N, F, S, Mis""" clear cell renal carcinoma 7 531 0 0 1 0 0 FGD4 121512 broad.mit.edu 37 12 32777354 32777354 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:32777354A>T ENST00000427716.2 + 12 1935 c.e12-1 FGD4_ENST00000266482.3_Splice_Site|FGD4_ENST00000381025.3_Splice_Site|FGD4_ENST00000525053.1_Splice_Site|FGD4_ENST00000531134.1_Splice_Site|FGD4_ENST00000534526.2_Splice_Site|FGD4_ENST00000546442.1_Splice_Site NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) GTTTTATTTTAGTTCTGCGCA 0.333000 4 82 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141336357 141336357 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:141336357C>T ENST00000231484.3 - 1 2270 c.1060G>A c.(1060-1062)Gtc>Atc p.V354I NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 354 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCATGTGACGTGGATGCTT 0.507000 5 350 0 0 1 0 0 DHX30 22907 broad.mit.edu 37 3 47887919 47887919 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:47887919G>T ENST00000446256.2 + 12 1812 c.1240G>T c.(1240-1242)Gtg>Ttg p.V414L DHX30_ENST00000457607.1_Missense_Mutation_p.V481L|DHX30_ENST00000445061.1_Missense_Mutation_p.V453L|DHX30_ENST00000348968.4_Missense_Mutation_p.V425L NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 453 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GCACCCGGTGGTGGTCATCTC 0.672000 4 128 0.184627 0.188467 1 1 0 PLXNB3 5365 broad.mit.edu 37 X 153036318 153036318 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:153036318C>A ENST00000538966.1 + 12 2456 c.2185C>A c.(2185-2187)Cgg>Agg p.R729R PLXNB3_ENST00000538776.1_Silent_p.R359R|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Silent_p.R316R|PLXNB3_ENST00000361971.5_Silent_p.R706R NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 706 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CCTACGCGTGCGGAACCTTCA 0.642000 4 7 0.184627 0.188467 1 1 0 C14orf93 60686 broad.mit.edu 37 14 23468012 23468012 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:23468012C>T ENST00000299088.6 - 2 650 c.221G>A c.(220-222)gGt>gAt p.G74D C14orf93_ENST00000406429.2_Missense_Mutation_p.G74D|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000397382.4_Missense_Mutation_p.G74D|C14orf93_ENST00000341470.4_Missense_Mutation_p.G74D|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000397379.3_Missense_Mutation_p.G74D NM_001130708.1|NM_021944.2 NP_001124180.1|NP_068763.2 Q9H972 CN093_HUMAN chromosome 14 open reading frame 93 74 extracellular region kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 17 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0127) TTCAGCCAAACCCACTGCCTT 0.557000 157 57 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16173246 16173246 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:16173246G>T ENST00000399408.2 + 16 2201 c.2026G>T c.(2026-2028)Gtg>Ttg p.V676L ABCC1_ENST00000399410.3_Missense_Mutation_p.V676L|ABCC1_ENST00000349029.5_Missense_Mutation_p.V676L|ABCC1_ENST00000346370.5_Missense_Mutation_p.V676L|ABCC1_ENST00000351154.5_Missense_Mutation_p.V676L|ABCC1_ENST00000345148.5_Missense_Mutation_p.V676L P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 676 ABC transporter 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TTTGGTGGCCGTGGTGGGCCA 0.602000 17 572 9.95505e-16 1.27746e-15 1 1 0 WHSC1 7468 broad.mit.edu 37 4 1902443 1902443 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:1902443T>A ENST00000503128.1 + 2 269 c.62T>A c.(61-63)aTg>aAg p.M21K WHSC1_ENST00000508803.1_Missense_Mutation_p.M21K|WHSC1_ENST00000420906.2_Missense_Mutation_p.M21K|WHSC1_ENST00000398261.1_Missense_Mutation_p.M21K|WHSC1_ENST00000436793.1_Missense_Mutation_p.M21K|WHSC1_ENST00000382895.3_Missense_Mutation_p.M21K|WHSC1_ENST00000514045.1_Missense_Mutation_p.M21K|WHSC1_ENST00000382892.2_Missense_Mutation_p.M21K|WHSC1_ENST00000382891.5_Missense_Mutation_p.M21K O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 21 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) TGCATAAAGATGAAGCAGGCA 0.507000 T IGH@ MM 6 176 0 0 1 0 0 ADCY3 109 broad.mit.edu 37 2 25050925 25050925 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:25050925G>T ENST00000260600.5 - 13 3129 c.2278C>A c.(2278-2280)Ctg>Atg p.L760M ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 760 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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) ATGAGGGACAGCACGGCCACA 0.592000 OREG0014498 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 77 5.3912e-06 6.30044e-06 1 1 0 MYO1E 4643 broad.mit.edu 37 15 59519787 59519787 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:59519787T>C ENST00000288235.4 - 7 912 c.513A>G c.(511-513)ggA>ggG p.G171G MYO1E_ENST00000558814.1_5'UTR NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 171 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) CAAAGTATTTTCCCTGCAAGA 0.408000 8 766 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32262283 32262283 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:32262283G>A ENST00000360482.2 - 10 2308 c.2179C>T c.(2179-2181)Ccg>Tcg p.P727S SPOCD1_ENST00000257100.3_Missense_Mutation_p.P220S|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P727S NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 727 TFIIS central. transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) AGTCTGCACGGCTCCTTCTGT 0.562000 29 46 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 147743694 147743694 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:147743694T>A ENST00000370460.2 + 3 925 c.446T>A c.(445-447)aTa>aAa p.I149K AFF2_ENST00000342251.3_Missense_Mutation_p.I145K|AFF2_ENST00000370457.5_Missense_Mutation_p.I145K|AFF2_ENST00000370458.1_Missense_Mutation_p.I145K NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 149 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TCAACTCTAATACACAGCAAC 0.453000 7 446 0 0 1 0 0 AWAT1 158833 broad.mit.edu 37 X 69459704 69459704 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:69459704A>T ENST00000374521.3 + 6 793 c.752A>T c.(751-753)tAc>tTc p.Y251F NM_001013579.2 NP_001013597.1 Q58HT5 AWAT1_HUMAN acyl-CoA wax alcohol acyltransferase 1 251 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1) 15 TTTGGTTTCTACTGTTGTGTC 0.502000 7 568 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149907008 149907008 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:149907008G>A ENST00000439741.2 - 5 589 c.339C>T c.(337-339)tcC>tcT p.S113S MTMR11_ENST00000406732.3_Silent_p.S85S|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Silent_p.S113S|MTMR11_ENST00000369140.3_Silent_p.S41S NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 113 phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GCTGGACTCGGGACAAGCCGC 0.547000 4 117 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91667731 91667731 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:91667731A>T ENST00000359028.2 + 18 4599 c.e18-1 AKAP9_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_Splice_Site Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus 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) TTATTTCTTTAGGTTATTGTG 0.299000 T BRAF papillary thyroid 5 43 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135042 156135042 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:156135042A>T ENST00000329476.3 + 2 441 c.e2-1 NPY2R_ENST00000506608.1_Splice_Site NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) ttTTCTTTTTAGGTTGTAGAC 0.398000 4 94 0 0 1 0 0 C1orf50 79078 broad.mit.edu 37 1 43240464 43240464 + Silent SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:43240464G>T ENST00000372525.5 + 4 382 c.339G>T c.(337-339)gtG>gtT p.V113V C1orf50_ENST00000536543.1_5'UTR|C1orf50_ENST00000468913.2_3'UTR NM_024097.3 NP_077002.2 Q9BV19 CA050_HUMAN chromosome 1 open reading frame 50 113 large_intestine(2)|ovary(1)|pancreas(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GTAATATAGTGAAAAAACCTG 0.378000 4 148 2.56e-06 3.00367e-06 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152708494 152708494 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:152708494G>T ENST00000367255.5 - 54 8801 c.8200C>A c.(8200-8202)Caa>Aaa p.Q2734K SYNE1_ENST00000423061.1_Missense_Mutation_p.Q2741K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q2734K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q2773K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q2741K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2734 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCATTCCATTGGCTAATCACA 0.368000 HNSCC(10;0.0054) 5 219 0.00116845 0.00127921 1 1 0 ATP10B 23120 broad.mit.edu 37 5 160061536 160061536 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:160061536A>G ENST00000327245.5 - 12 2052 c.1206T>C c.(1204-1206)ctT>ctC p.L402L CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 402 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) CATACAGGTCAAGGTCATTGC 0.478000 5 502 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57567703 57567703 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:57567703G>A ENST00000243077.3 + 22 3953 c.3487G>A c.(3487-3489)Gac>Aac p.D1163N NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1163 LDL-receptor class A 10. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|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) CCTGCCCCCTGACAAGCTGTG 0.632000 4 89 0 0 1 0 0 RCSD1 92241 broad.mit.edu 37 1 167653164 167653164 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:167653164G>T ENST00000367854.3 + 2 365 c.34G>T c.(34-36)Gtg>Ttg p.V12L RCSD1_ENST00000537350.1_Missense_Mutation_p.V12L NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 12 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) CAATGCCAATGTGGACAACTC 0.587000 130 820 4.08915e-86 5.64054e-86 1 1 0 NUP85 79902 broad.mit.edu 37 17 73221470 73221470 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:73221470C>A ENST00000447371.2 + 8 686 c.262C>A c.(262-264)Ctg>Atg p.L88M NUP85_ENST00000245544.4_Missense_Mutation_p.L256M|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579324.1_Missense_Mutation_p.L144M|NUP85_ENST00000541827.1_Missense_Mutation_p.L210M|NUP85_ENST00000579298.1_Missense_Mutation_p.L211M Q9BW27 NUP85_HUMAN nucleoporin 85kDa 256 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) AGAGCTGGAGCTGAAGTGGCA 0.562000 6 59 0.0809354 0.0837802 1 1 0 BRF2 55290 broad.mit.edu 37 8 37704631 37704631 + Missense_Mutation SNP C C T rs142395337 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:37704631C>T ENST00000220659.6 - 3 397 c.277G>A c.(277-279)Gcg>Acg p.A93T BRF2_ENST00000521170.1_3'UTR|BRF2_ENST00000520601.1_Missense_Mutation_p.A93T NM_018310.3 NP_060780.2 Q9HAW0 BRF2_HUMAN BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit 93 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) TAGGCAACCGCGGTATCCTCA 0.547000 7 787 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 124097420 124097420 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:124097420A>T ENST00000422452.2 - 1 246 c.183T>A c.(181-183)agT>agA p.S61R TENM1_ENST00000371130.3_Missense_Mutation_p.S61R NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TCCTCTTTCTACTCTGGCTAT 0.368000 6 335 0 0 1 0 0 CXorf58 254158 broad.mit.edu 37 X 23933821 23933821 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:23933821T>C ENST00000379211.3 + 4 770 c.221T>C c.(220-222)tTc>tCc p.F74S NM_001169574.1|NM_152761.2 NP_001163045.1|NP_689974.2 Q96LI9 CX058_HUMAN chromosome X open reading frame 58 74 breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1) 14 TTTCAGGAATTCTATGTAACA 0.378000 4 15 0 0 1 0 0 FKBP9 11328 broad.mit.edu 37 7 33020118 33020118 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:33020118G>A ENST00000242209.4 + 5 1015 c.846G>A c.(844-846)agG>agA p.R282R FKBP9_ENST00000538443.1_Silent_p.R144R|FKBP9_ENST00000490776.2_Silent_p.R50R|FKBP9_ENST00000489038.1_3'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Silent_p.R335R NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 282 PPIase FKBP-type 3. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) ACTTTCTCAGGTATCATTACA 0.413000 4 321 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43748606 43748606 + Nonsense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:43748606G>A ENST00000263801.3 - 12 2437 c.2185C>T c.(2185-2187)Caa>Taa p.Q729* TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.Q734*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.Q734*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.Q734* NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 729 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GCCAACTTTTGAGGGGAATCA 0.408000 Other conserved DNA damage response genes 6 250 0 0 1 0 0 NFYC 4802 broad.mit.edu 37 1 41204585 41204585 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:41204585C>A ENST00000372652.1 + 2 338 c.70C>A c.(70-72)Cct>Act p.P24T NFYC_ENST00000447388.3_Missense_Mutation_p.P24T|NFYC_ENST00000427410.2_Missense_Mutation_p.P24T|NFYC_ENST00000372654.1_Missense_Mutation_p.P24T|NFYC_ENST00000425457.2_Missense_Mutation_p.P24T|NFYC_ENST00000372653.1_Missense_Mutation_p.P24T|NFYC_ENST00000372651.1_Missense_Mutation_p.P24T|NFYC_ENST00000456393.2_Missense_Mutation_p.P24T|NFYC_ENST00000308733.5_Missense_Mutation_p.P24T|NFYC_ENST00000440226.3_Missense_Mutation_p.P24T Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma 24 protein folding|regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2) 15 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;1.72e-17) GTCGTTCTGGCCTCGGGTCAT 0.408000 3 31 0.115264 0.118483 1 1 0 IGHV3-16 28447 broad.mit.edu 37 14 106622120 106622120 + RNA SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:106622120G>A ENST00000390604.2 - 0 198 TCCAGAGGCTGCACAGGAGAG 0.587000 5 355 0 0 1 0 0 DDX31 64794 broad.mit.edu 37 9 135522302 135522302 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:135522302C>A ENST00000372159.3 - 12 1577 c.1426G>T c.(1426-1428)Gca>Tca p.A476S DDX31_ENST00000438527.3_Missense_Mutation_p.A347S|DDX31_ENST00000372153.1_Missense_Mutation_p.A476S|DDX31_ENST00000310532.2_Missense_Mutation_p.A476S NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 476 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) TCTGGTATTGCAAAGCTGTCC 0.532000 5 94 0.000602214 0.000662999 1 1 0 PLXND1 23129 broad.mit.edu 37 3 129275241 129275241 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:129275241C>T ENST00000324093.4 - 36 5870 c.5692G>A c.(5692-5694)Gcc>Acc p.A1898T PLXND1_ENST00000504689.1_Intron|PLXND1_ENST00000393239.1_3'UTR NM_015103.2 NP_055918.2 Q9Y4D7 PLXD1_HUMAN plexin D1 1898 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GTCCTCCGGGCCGTGGGGTTG 0.612000 5 64 0 0 1 0 0 FTCD 10841 broad.mit.edu 37 21 47570047 47570047 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr21:47570047G>T ENST00000397748.1 - 7 935 c.892C>A c.(892-894)Cag>Aag p.Q298K FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000359679.2_Missense_Mutation_p.Q298K|FTCD_ENST00000291670.5_Missense_Mutation_p.Q298K|FTCD_ENST00000397746.3_Missense_Mutation_p.Q298K|FTCD_ENST00000397743.1_Missense_Mutation_p.Q298K|FTCD_ENST00000355384.2_Missense_Mutation_p.Q298K O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 298 Formiminotransferase C-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CTGATCCGCTGCTCCTCCTCC 0.697000 6 12 0.00116845 0.00127921 1 1 0 ZNF57 126295 broad.mit.edu 37 19 2917734 2917734 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:2917734C>G ENST00000306908.5 + 4 1263 c.1115C>G c.(1114-1116)gCc>gGc p.A372G ZNF57_ENST00000523428.1_Missense_Mutation_p.A340G|AC006277.2_ENST00000520090.2_RNA NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 372 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) TGTGGGAAAGCCTTCACTTGG 0.443000 48 139 0 0 1 0 0 KLHL6 89857 broad.mit.edu 37 3 183209922 183209922 + Silent SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:183209922G>T ENST00000341319.3 - 7 1694 c.1659C>A c.(1657-1659)atC>atA p.I553I NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 553 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) TGCAGGGCGCGATACCGCAGC 0.662000 12 110 2.12542e-12 2.70382e-12 1 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102496024 102496024 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:102496024G>T ENST00000360184.4 + 49 9781 c.9617G>T c.(9616-9618)aGg>aTg p.R3206M NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3206 Stalk (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GTGGGGCTCAGGAAGATCAAA 0.532000 95 315 1.44766e-59 1.97836e-59 1 1 0 BRDT 676 broad.mit.edu 37 1 92446676 92446676 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:92446676T>A ENST00000370389.2 + 10 2396 c.1472T>A c.(1471-1473)cTa>cAa p.L491Q BRDT_ENST00000394530.3_Missense_Mutation_p.L518Q|BRDT_ENST00000399546.2_Missense_Mutation_p.L564Q|BRDT_ENST00000362005.3_Missense_Mutation_p.L564Q|BRDT_ENST00000402388.1_Missense_Mutation_p.L564Q NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 564 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GCATCAACACTAAGAGAATTA 0.358000 4 70 0 0 1 0 0 CEP104 9731 broad.mit.edu 37 1 3756191 3756191 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:3756191G>A ENST00000378230.3 - 7 1040 c.716C>T c.(715-717)gCc>gTc p.A239V NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 239 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 ATCAGCAATGGCTTGTTTTAG 0.353000 5 222 0 0 1 0 0 FAM228A 653140 broad.mit.edu 37 2 24406229 24406229 + Nonsense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:24406229C>T ENST00000295150.3 + 4 324 c.238C>T c.(238-240)Cag>Tag p.Q80* RP11-507M3.1_ENST00000584973.1_3'UTR NM_001040710.1 NP_001035800.1 family with sequence similarity 228, member A AACTGGTCTTCAGTGTGAGAC 0.438000 6 81 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169212948 169212948 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:169212948C>A ENST00000393743.3 - 8 1283 c.992G>T c.(991-993)aGa>aTa p.R331I NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 331 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AGTGATGACTCTAGCACAAGC 0.373000 11 123 0.000219431 0.000245713 1 1 0 HPS3 84343 broad.mit.edu 37 3 148872892 148872892 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:148872892A>T ENST00000296051.2 + 8 1540 c.e8-1 HPS3_ENST00000460120.1_Splice_Site NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TTTTGCTTTTAGTTCGAGAAA 0.303000 Hermansky-Pudlak syndrome 5 83 0 0 1 0 0 CARS2 79587 broad.mit.edu 37 13 111340073 111340073 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr13:111340073G>A ENST00000257347.4 - 5 629 c.566C>T c.(565-567)gCa>gTa p.A189V CARS2_ENST00000535398.1_5'UTR NM_024537.2 NP_078813.1 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial (putative) 189 RGNAYSTAKGNVYFDLKSRGD -> SWERLFNGKRQCLLRS ESLEET (in Ref. 4; BAB93499). cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) CCTACCTTTTGCCGTTGAATA 0.408000 11 1947 0 0 1 0 0 KBTBD7 84078 broad.mit.edu 37 13 41767222 41767222 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr13:41767222G>A ENST00000379483.3 - 1 1480 c.1172C>T c.(1171-1173)cCa>cTa p.P391L NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 391 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) GTCATGGTCTGGGGACACACA 0.507000 29 52 0 0 1 0 0 CD72 971 broad.mit.edu 37 9 35615939 35615939 + Splice_Site SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:35615939C>A ENST00000396757.1 - 6 853 c.e6+1 CD72_ENST00000490239.1_Splice_Site|CD72_ENST00000259633.4_Splice_Site P21854 CD72_HUMAN CD72 molecule axon guidance|cell adhesion integral to plasma membrane receptor binding|sugar binding|transmembrane receptor activity large_intestine(5)|liver(1)|lung(6) 12 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGAGCGGATACCTGCTGAGCC 0.557000 13 484 0.0545645 0.0566817 1 1 0 LPL 4023 broad.mit.edu 37 8 19809320 19809320 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:19809320C>T ENST00000311322.8 + 3 760 c.290C>T c.(289-291)gCc>gTc p.A97V LPL_ENST00000521994.1_3'UTR NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 97 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) AAACTTGTGGCCGCCCTGTAC 0.493000 7 603 0 0 1 0 0 PDXK 8566 broad.mit.edu 37 21 45165995 45165995 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr21:45165995G>A ENST00000291565.4 + 5 550 c.367G>A c.(367-369)Gaa>Aaa p.E123K PDXK_ENST00000468090.1_Missense_Mutation_p.E95K|PDXK_ENST00000467908.1_Missense_Mutation_p.E83K NM_003681.4 NP_003672.1 O00764 PDXK_HUMAN pyridoxal (pyridoxine, vitamin B6) kinase 123 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) GTGGGACGGCGAAGGCTCGAT 0.502000 12 285 0 0 1 0 0 ZNF132 7691 broad.mit.edu 37 19 58945900 58945900 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:58945900G>T ENST00000254166.3 - 3 1311 c.911C>A c.(910-912)tCt>tAt p.S304Y NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 304 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) CCTCAGCTTAGATGAGTGACT 0.388000 6 57 0.0293803 0.0306284 1 1 0 RAF1 5894 broad.mit.edu 37 3 12632448 12632448 + Missense_Mutation SNP G G C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:12632448G>C ENST00000251849.4 - 12 1658 c.1219C>G c.(1219-1221)Ctt>Gtt p.L407V RAF1_ENST00000542177.1_Missense_Mutation_p.L326V|RAF1_ENST00000534997.1_Missense_Mutation_p.L192V|RAF1_ENST00000442415.2_Missense_Mutation_p.L427V NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 407 Protein kinase. activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) CCCATGAAAAGCAGAATGTTC 0.547000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 8 759 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75264606 75264606 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:75264606C>A ENST00000325680.7 + 5 2730 c.2606C>A c.(2605-2607)aCc>aAc p.T869N YLPM1_ENST00000238571.3_Missense_Mutation_p.T674N|YLPM1_ENST00000552421.1_Intron NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 674 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) TTAGCAGACACCAGTAGTAAC 0.443000 8 527 0.00307968 0.00333443 1 1 0 VTA1 51534 broad.mit.edu 37 6 142490816 142490816 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:142490816T>A ENST00000367630.4 + 3 393 c.e3+2 VTA1_ENST00000367621.1_Splice_Site|VTA1_ENST00000452973.2_Splice_Site NM_016485.3 NP_057569.2 Q9NP79 VTA1_HUMAN vesicle (multivesicular body) trafficking 1 cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) ATTTCACAAGTAAGTAAAGAG 0.303000 6 47 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103311500 103311500 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:103311500A>T ENST00000233969.2 + 7 1657 c.e7-1 SLC9A2_ENST00000469286.1_Splice_Site NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 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 TTTCTGTTTTAGTTGTTTGAT 0.353000 6 114 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100235178 100235178 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:100235178T>A ENST00000305046.8 - 6 695 c.628A>T c.(628-630)Atg>Ttg p.M210L ADH1B_ENST00000394887.3_Missense_Mutation_p.M170L P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 210 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding 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) TTACAGCCCATAACAGCAGAT 0.483000 10 1626 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 228381 228381 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:228381A>T ENST00000264932.6 + 6 818 c.703A>T c.(703-705)Atc>Ttc p.I235F SDHA_ENST00000510361.1_Missense_Mutation_p.I187F|SDHA_ENST00000504309.1_Missense_Mutation_p.I235F NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 235 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) CCGTGGTGTCATCGCACTGTG 0.428000 Familial Paragangliomas 5 87 0 0 1 0 0 C2CD2L 9854 broad.mit.edu 37 11 118981555 118981555 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:118981555A>T ENST00000336702.3 + 4 929 c.e4-1 NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 TCCTGTCTGTAGTTGGAAGTC 0.527000 7 367 0 0 1 0 0 TAS2R3 50831 broad.mit.edu 37 7 141464711 141464711 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:141464711A>T ENST00000247879.2 + 1 815 c.753A>T c.(751-753)ttA>ttT p.L251F SSBP1_ENST00000465582.1_Intron NM_016943.2 NP_058639.1 Q9NYW6 TA2R3_HUMAN taste receptor, type 2, member 3 251 sensory perception of taste taste receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5) 14 Melanoma(164;0.0171) ttgctttcttAATTGCATCAT 0.408000 6 216 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21071661 21071661 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:21071661C>A ENST00000261383.3 - 26 3736 c.3737G>T c.(3736-3738)tGg>tTg p.W1246L DNAH3_ENST00000415178.1_Missense_Mutation_p.W1246L NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1246 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) CTGCTGGAGCCACTTTTCCAC 0.527000 24 339 1.42536e-11 1.79005e-11 1 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553263 140553263 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:140553263T>C ENST00000231137.3 + 1 1021 c.847T>C c.(847-849)Tac>Cac p.Y283H NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 283 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCATTTTCTTACGCCACTGA 0.438000 4 413 0 0 1 0 0 DNAJC2 27000 broad.mit.edu 37 7 102953051 102953051 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:102953051C>A ENST00000379263.3 - 17 2081 c.1831G>T c.(1831-1833)Gaa>Taa p.E611* PMPCB_ENST00000249269.4_3'UTR|DNAJC2_ENST00000249270.7_Nonsense_Mutation_p.E558*|PMPCB_ENST00000420236.2_Intron NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 611 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 AGCACTTGTTCTTGAGCAGCT 0.328000 5 182 0.0293803 0.0306284 1 1 0 ZNF236 7776 broad.mit.edu 37 18 74624255 74624255 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:74624255G>A ENST00000253159.8 + 17 3053 c.2855G>A c.(2854-2856)gGt>gAt p.G952D ZNF236_ENST00000320610.9_Missense_Mutation_p.G954D NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 952 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CAGGCACAAGGTTCCCAGTTT 0.488000 12 93 0 0 1 0 0 WFDC11 259239 broad.mit.edu 37 20 44279177 44279177 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:44279177C>T ENST00000356562.2 - 3 284 c.63G>A c.(61-63)ctG>ctA p.L21L WFDC11_ENST00000324384.3_Silent_p.L21L Q8NEX6 WFD11_HUMAN WAP four-disulfide core domain 11 21 extracellular region endometrium(1)|lung(4) 5 Myeloproliferative disorder(115;0.0122) CCAGCACAGACAGTAGCACCG 0.468000 6 520 0 0 1 0 0 FNIP1 96459 broad.mit.edu 37 5 131007746 131007746 + Silent SNP A A T rs75277328 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:131007746A>T ENST00000307968.7 - 13 2306 c.2307T>A c.(2305-2307)acT>acA p.T769T FNIP1_ENST00000307954.8_Silent_p.T752T|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Silent_p.T797T NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TTGTTTGTTTAGTTTCTTGAT 0.443000 5 310 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176638432 176638432 + Missense_Mutation SNP G G C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:176638432G>C ENST00000439151.2 + 5 3077 c.3032G>C c.(3031-3033)aGt>aCt p.S1011T NSD1_ENST00000347982.4_Missense_Mutation_p.S742T|NSD1_ENST00000354179.4_Missense_Mutation_p.S742T|NSD1_ENST00000361032.4_Missense_Mutation_p.S908T NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1011 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) TCTGGTAAAAGTCGTTCAGAC 0.498000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 10 736 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23532750 23532750 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:23532750C>A ENST00000262710.1 - 13 3133 c.2806G>T c.(2806-2808)Gaa>Taa p.E936* ACIN1_ENST00000357481.2_Nonsense_Mutation_p.E178*|ACIN1_ENST00000338631.6_Nonsense_Mutation_p.E209*|ACIN1_ENST00000555053.1_Nonsense_Mutation_p.E923*|ACIN1_ENST00000605057.1_Nonsense_Mutation_p.E878*|ACIN1_ENST00000457657.1_Nonsense_Mutation_p.E896*|ACIN1_ENST00000397341.3_Nonsense_Mutation_p.E178*|ACIN1_ENST00000557515.1_Nonsense_Mutation_p.E177* NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 936 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TCCTCTTCTTCCCTCTGCCCA 0.517000 97 810 2.99311e-26 3.96167e-26 1 1 0 AMOTL2 51421 broad.mit.edu 37 3 134077468 134077468 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:134077468C>G ENST00000514516.1 - 9 2547 c.2369G>C c.(2368-2370)gGc>gCc p.G790A AMOTL2_ENST00000249883.5_Missense_Mutation_p.G733A|AMOTL2_ENST00000422605.2_Missense_Mutation_p.G732A|AMOTL2_ENST00000513145.1_Missense_Mutation_p.G730A NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 732 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 GTCTGGGGGGCCCTCAGTCTG 0.637000 OREG0015814 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 54 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149905312 149905312 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:149905312G>A ENST00000439741.2 - 10 1222 c.972C>T c.(970-972)gcC>gcT p.A324A MTMR11_ENST00000406732.3_Silent_p.A296A|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Silent_p.A252A NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 324 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GCAGGCAGAGGGCCCTCAGCC 0.557000 6 282 0 0 1 0 0 HLA-DPB1 3115 broad.mit.edu 37 6 33053608 33053608 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:33053608C>A ENST00000418931.2 + 4 815 c.699C>A c.(697-699)ttC>ttA p.F233L NM_002121.5 NP_002112.3 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP beta 1 233 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 CTGGGGGCTTCGTGCTGGGGC 0.582000 43 236 2.01807e-28 2.68317e-28 1 1 0 TSHZ1 10194 broad.mit.edu 37 18 72999908 72999908 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:72999908G>A ENST00000322038.5 + 2 2995 c.2411G>A c.(2410-2412)gGc>gAc p.G804D TSHZ1_ENST00000580243.1_Missense_Mutation_p.G849D NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 849 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) AACCTCACAGGCCGCCTGACG 0.597000 3 61 0 0 1 0 0 RASAL3 64926 broad.mit.edu 37 19 15566947 15566947 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:15566947C>A ENST00000343625.6 - 11 1769 c.1689G>T c.(1687-1689)gaG>gaT p.E563D NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 563 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 CGAAGACCTCCTCGCAGCTGT 0.577000 5 112 0.014758 0.0155779 1 1 0 MRPL15 29088 broad.mit.edu 37 8 55049839 55049839 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:55049839A>G ENST00000260102.4 + 3 349 c.275A>G c.(274-276)cAg>cGg p.Q92R NM_014175.3 NP_054894.1 Q9P015 RM15_HUMAN mitochondrial ribosomal protein L15 92 translation large ribosomal subunit|mitochondrion structural constituent of ribosome p.Q92P(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3) 10 Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458) TTCAGACGCCAGTATAAGCCT 0.398000 5 692 0 0 1 0 0 TAGAP 117289 broad.mit.edu 37 6 159457058 159457058 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:159457058C>T ENST00000367066.3 - 10 2328 c.1997G>A c.(1996-1998)cGa>cAa p.R666Q RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R488Q|RP1-111C20.4_ENST00000606466.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 666 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CTGTTTCCATCGCTCAGGCAG 0.627000 30 37 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79259751 79259751 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:79259751C>A ENST00000428286.1 - 12 8758 c.7558G>T c.(7558-7560)Gac>Tac p.D2520Y PRUNE2_ENST00000376718.3_Missense_Mutation_p.D2878Y|PRUNE2_ENST00000223609.6_Missense_Mutation_p.D143Y|PRUNE2_ENST00000466266.2_5'UTR|PRUNE2_ENST00000443509.2_Missense_Mutation_p.D127Y Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2878 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGCCGGTTGTCCTCCCGTTCC 0.507000 11 129 3.86212e-05 4.3495e-05 1 1 0 ITGAE 3682 broad.mit.edu 37 17 3664715 3664715 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:3664715C>A ENST00000263087.4 - 5 513 c.415G>T c.(415-417)Gcc>Tcc p.A139S NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 139 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) AAGAAGTTGGCCTGAGCCTGG 0.567000 4 62 0.000602214 0.000662999 1 1 0 FRMD4A 55691 broad.mit.edu 37 10 13702551 13702551 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:13702551C>A ENST00000357447.2 - 20 2031 c.1663G>T c.(1663-1665)Gac>Tac p.D555Y FRMD4A_ENST00000378503.1_Missense_Mutation_p.D555Y|FRMD4A_ENST00000358621.4_Missense_Mutation_p.D540Y NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 555 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 ACCTGAGAGTCTTCTGCACAA 0.597000 OREG0020030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 52 0.00909568 0.0096878 1 1 0 TRIB2 28951 broad.mit.edu 37 2 12880890 12880890 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:12880890G>A ENST00000155926.4 + 3 2421 c.1002G>A c.(1000-1002)atG>atA p.M334I TRIB2_ENST00000381465.2_Missense_Mutation_p.M198I NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 334 negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity p.M334N(2) breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACGTCAACATGGAAGAGAACT 0.512000 3 91 0 0 1 0 0 C9orf153 389766 broad.mit.edu 37 9 88842305 88842305 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:88842305A>T ENST00000376001.3 - 4 329 c.249T>A c.(247-249)aaT>aaA p.N83K C9orf153_ENST00000339137.3_Intron|C9orf153_ENST00000469914.1_Intron NM_001276366.1 NP_001263295.1 Q5TBE3 CI153_HUMAN chromosome 9 open reading frame 153 83 breast(1)|lung(1) 2 tgtTCATTTTATTGACACTGT 0.323000 4 81 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79293949 79293949 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:79293949C>A ENST00000264895.6 + 24 3387 c.2947C>A c.(2947-2949)Cag>Aag p.Q983K FRAS1_ENST00000325942.6_Missense_Mutation_p.Q983K NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 983 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CTATGTTCTCCAGGATGGGGC 0.527000 130 1125 1.13981e-37 1.54333e-37 1 1 0 DPP8 54878 broad.mit.edu 37 15 65790316 65790316 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:65790316C>T ENST00000341861.5 - 5 2229 c.649G>A c.(649-651)Gat>Aat p.D217N DPP8_ENST00000300141.6_Missense_Mutation_p.D201N|DPP8_ENST00000358939.4_Missense_Mutation_p.D201N|DPP8_ENST00000321147.6_Missense_Mutation_p.D217N|DPP8_ENST00000321118.7_Missense_Mutation_p.D217N|DPP8_ENST00000339244.5_Missense_Mutation_p.D217N|DPP8_ENST00000559233.1_Missense_Mutation_p.D217N NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 217 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 AATTTTGGATCCATCCGTATG 0.388000 3 96 0 0 1 0 0 RIPPLY1 92129 broad.mit.edu 37 X 106146393 106146393 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:106146393G>A ENST00000276173.4 - 1 154 c.125C>T c.(124-126)tCc>tTc p.S42F RIPPLY1_ENST00000411805.1_Missense_Mutation_p.S42F|CLDN2_ENST00000541806.1_Intron NM_138382.2 NP_612391.1 Q0D2K3 RIPP1_HUMAN ripply transcriptional repressor 1 42 negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent nucleus lung(1)|urinary_tract(1) 2 TTGTCCAGAGGAGAGAAGGCA 0.537000 6 55 0 0 1 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148904736 148904736 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:148904736T>A ENST00000261798.5 - 3 663 c.e3-2 CSNK1A1_ENST00000504676.1_Splice_Site|CSNK1A1_ENST00000515435.1_Splice_Site|CSNK1A1_ENST00000515768.1_Splice_Site|CSNK1A1_ENST00000377843.2_Splice_Site NM_001271741.1 NP_001258670.1 P48729 KC1A_HUMAN casein kinase 1, alpha 1 cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) CCATACCACCTAACGAAACAA 0.353000 3 34 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33463388 33463388 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:33463388G>T ENST00000455041.2 - 23 2949 c.2890C>A c.(2890-2892)Cct>Act p.P964T NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 1016 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) ATATGGCGAGGAGACAGGCGA 0.652000 7 82 7.48243e-07 8.88538e-07 1 1 0 OR2L2 26246 broad.mit.edu 37 1 248201694 248201694 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:248201694T>C ENST00000366479.2 + 1 221 c.125T>C c.(124-126)cTa>cCa p.L42P OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 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;0.0278) ATTGGAAATCTATCCATGATT 0.393000 6 606 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48145387 48145387 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:48145387C>T ENST00000418331.2 + 5 1191 c.839C>T c.(838-840)aCa>aTa p.T280I PTPRJ_ENST00000440289.2_Missense_Mutation_p.T280I NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 280 Fibronectin type-III 2.|Fibronectin type-III 3. contact inhibition|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 MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|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 TCAAATAAGACAAAGGGAGAC 0.458000 14 229 0 0 1 0 0 ZNF780B 163131 broad.mit.edu 37 19 40540772 40540772 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:40540772C>T ENST00000434248.1 - 5 2059 c.1994G>A c.(1993-1995)gGt>gAt p.G665D ZNF780B_ENST00000221355.6_Missense_Mutation_p.G517D NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 665 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TGGTTTTACACCAGCATGAAT 0.388000 6 378 0 0 1 0 0 FAM122C 159091 broad.mit.edu 37 X 133948806 133948806 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:133948806A>T ENST00000414371.2 + 4 397 c.224A>T c.(223-225)aAt>aTt p.N75I FAM122C_ENST00000445123.1_5'UTR|FAM122C_ENST00000370785.3_Missense_Mutation_p.N39I|FAM122C_ENST00000370784.4_Missense_Mutation_p.N39I NM_001170780.1|NM_001170784.1 NP_001164251.1|NP_001164255.1 Q6P4D5 F222C_HUMAN family with sequence similarity 122C 39 endometrium(2)|kidney(1)|lung(2) 5 Acute lymphoblastic leukemia(192;0.000127) TTTAGTTTTAATTCACAGGTG 0.343000 5 119 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50405564 50405564 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:50405564C>A ENST00000217086.4 - 3 2689 c.2578G>T c.(2578-2580)Gca>Tca p.A860S SALL4_ENST00000395997.3_Missense_Mutation_p.A423S|SALL4_ENST00000371539.3_Missense_Mutation_p.A83S NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 860 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGCTGGGCTGCTAACAAAGGG 0.577000 11 304 3.32936e-07 3.9616e-07 1 1 0 PNPLA7 375775 broad.mit.edu 37 9 140357192 140357192 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:140357192A>T ENST00000406427.1 - 30 3773 c.3437T>A c.(3436-3438)cTg>cAg p.L1146Q PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Missense_Mutation_p.L1121Q|PNPLA7_ENST00000371457.1_Missense_Mutation_p.L727Q NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 1121 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) CCACCCAGACAGCGCATCCCC 0.637000 2 4 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20089905 20089905 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:20089905G>A ENST00000396085.1 + 22 5305 c.4944G>A c.(4942-4944)caG>caA p.Q1648Q NAV2_ENST00000349880.4_Silent_p.Q1648Q|NAV2_ENST00000527559.2_Silent_p.Q1633Q|NAV2_ENST00000533917.1_Silent_p.Q712Q|NAV2_ENST00000540292.1_Silent_p.Q1635Q|NAV2_ENST00000396087.3_Silent_p.Q1704Q|NAV2_ENST00000360655.4_Silent_p.Q1584Q|NAV2_ENST00000311043.8_Silent_p.Q712Q NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1704 Ser-rich. 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 ATGCCTCCCAGGAGAAAGTTT 0.517000 29 87 0 0 1 0 0 LETMD1 25875 broad.mit.edu 37 12 51447559 51447559 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:51447559A>T ENST00000418425.2 + 4 448 c.e4-1 LETMD1_ENST00000262055.4_Splice_Site|LETMD1_ENST00000550929.1_Splice_Site|LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000380123.2_Intron|LETMD1_ENST00000548516.1_Intron NM_001243689.1 NP_001230618.1 Q6P1Q0 LTMD1_HUMAN LETM1 domain containing 1 integral to membrane|mitochondrial outer membrane protein binding central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3) 16 ATTTCTGCTTAGTTCCGCCAA 0.403000 12 969 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178426848 178426848 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:178426848G>A ENST00000448150.3 + 14 3206 c.2388G>A c.(2386-2388)caG>caA p.Q796Q RASAL2_ENST00000462775.1_Silent_p.Q666Q|RASAL2_ENST00000367649.3_Silent_p.Q807Q NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 666 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 CTCCAAGCCAGGACAACACAG 0.408000 6 91 0 0 1 0 0 CCDC18 343099 broad.mit.edu 37 1 93691888 93691888 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:93691888A>T ENST00000343253.7 + 17 2674 c.e17-1 CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site|CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000421014.2_Splice_Site Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TTTCCTGCTTAGGTTAGGCAA 0.299000 4 74 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43604483 43604483 + Silent SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:43604483G>T ENST00000355710.3 + 6 1300 c.1068G>T c.(1066-1068)ctG>ctT p.L356L RET_ENST00000340058.5_Silent_p.L356L NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 356 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CTGCAGGGCTGGTTCTCAACC 0.602000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 13 73 4.93089e-13 6.29999e-13 1 1 0 PKD2L1 9033 broad.mit.edu 37 10 102058505 102058505 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:102058505T>C ENST00000318222.3 - 4 927 c.545A>G c.(544-546)cAt>cGt p.H182R PKD2L1_ENST00000338519.3_Missense_Mutation_p.H182R|PKD2L1_ENST00000353274.3_Missense_Mutation_p.H182R NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 182 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) GTGGGAGCCATGGCCCAGGCT 0.547000 9 164 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 78674724 78674724 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:78674724C>T ENST00000286627.5 - 23 3764 c.2812G>A c.(2812-2814)Ggg>Agg p.G938R KCNMA1_ENST00000354353.5_Missense_Mutation_p.G999R|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G938R|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G1000R|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.G979R|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G938R|KCNMA1_ENST00000286628.8_Missense_Mutation_p.G996R|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G996R NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 996 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) ATGTTGACCCCAGTTGTGATG 0.488000 15 936 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16162137 16162137 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:16162137T>C ENST00000399408.2 + 13 1977 c.1802T>C c.(1801-1803)aTg>aCg p.M601T ABCC1_ENST00000399410.3_Missense_Mutation_p.M601T|ABCC1_ENST00000349029.5_Missense_Mutation_p.M601T|ABCC1_ENST00000346370.5_Missense_Mutation_p.M601T|ABCC1_ENST00000351154.5_Missense_Mutation_p.M601T|ABCC1_ENST00000345148.5_Missense_Mutation_p.M601T P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 601 ABC transmembrane type-1 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) ATTCTCCCCATGGTCATCAGC 0.577000 7 499 0 0 1 0 0 RAB2B 84932 broad.mit.edu 37 14 21931904 21931904 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:21931904C>T ENST00000397762.1 - 6 485 c.385G>A c.(385-387)Gtg>Atg p.V129M RAB2B_ENST00000461909.1_5'UTR NM_001163380.1|NM_032846.3 NP_001156852.1|NP_116235.2 Q8WUD1 RAB2B_HUMAN RAB2B, member RAS oncogene family 129 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane|plasma membrane GTP binding NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 all_cancers(95;0.000858) Epithelial(56;1.53e-06)|all cancers(55;1.44e-05) GBM - Glioblastoma multiforme(265;0.00391) TCTCTCTTCACATCCCTGCGG 0.398000 4 112 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176983950 176983950 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:176983950C>T ENST00000367654.2 - 8 1537 c.1524G>A c.(1522-1524)cgG>cgA p.R508R ASTN1_ENST00000367657.3_Silent_p.R500R|ASTN1_ENST00000361833.2_Silent_p.R500R|ASTN1_ENST00000424564.2_Silent_p.R500R|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 508 cell migration|neuron cell-cell adhesion integral to membrane p.R500R(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 CCCATTCGTTCCGAATGCAAA 0.488000 19 2169 0 0 1 0 0 KRT84 3890 broad.mit.edu 37 12 52779044 52779044 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:52779044G>T ENST00000257951.3 - 1 392 c.326C>A c.(325-327)gCt>gAt p.A109D RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 109 Head. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) GCCACTGCCAGCTCCAAAGCC 0.587000 3 63 0.004672 0.0050124 1 1 0 OCA2 4948 broad.mit.edu 37 15 28230277 28230277 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:28230277C>T ENST00000354638.3 - 13 1452 c.1297G>A c.(1297-1299)Gcg>Acg p.A433T OCA2_ENST00000353809.5_Missense_Mutation_p.A409T|OCA2_ENST00000382996.2_Missense_Mutation_p.A433T NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 433 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGGACGGCCGCGATGAGACAG 0.597000 Oculocutaneous Albinism 87 226 0 0 1 0 0 TEX264 51368 broad.mit.edu 37 3 51708285 51708285 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:51708285A>T ENST00000415259.1 + 2 1047 c.e2-1 TEX264_ENST00000341333.5_Splice_Site|TEX264_ENST00000457573.1_Splice_Site|TEX264_ENST00000395057.1_Splice_Site|TEX264_ENST00000416589.1_Splice_Site Q9Y6I9 TX264_HUMAN testis expressed 264 extracellular region NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) TCTCCTTTGCAGCTGCCTTGA 0.587000 5 49 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123964520 123964520 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:123964520A>G ENST00000314393.4 + 3 1605 c.770A>G c.(769-771)aAg>aGg p.K257R NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 257 Required for homodimerization. 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) CTTGTGCCCAAGGTCCCTGTC 0.507000 5 447 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40433988 40433988 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:40433988G>A ENST00000221347.6 - 2 288 c.281C>T c.(280-282)gCc>gTc p.A94V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 94 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTCAGCCTTGGCACTGATGTT 0.547000 8 347 0 0 1 0 0 MTX2 10651 broad.mit.edu 37 2 177202251 177202251 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:177202251C>T ENST00000392529.2 + 11 1026 c.621C>T c.(619-621)ggC>ggT p.G207G MTX2_ENST00000249442.6_Silent_p.G217G|MTX2_ENST00000443241.1_Silent_p.G161G O75431 MTX2_HUMAN metaxin 2 217 protein targeting to mitochondrion mitochondrial outer membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181) TGGTATTTGGCCATCTATACA 0.378000 5 189 0 0 1 0 0 PRCP 5547 broad.mit.edu 37 11 82611312 82611312 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:82611312C>T ENST00000313010.3 - 1 327 c.133G>A c.(133-135)Gcc>Acc p.A45T PRCP_ENST00000393399.2_Missense_Mutation_p.A45T|PRCP_ENST00000535099.1_Intron NM_005040.2 NP_005031.1 P42785 PCP_HUMAN prolylcarboxypeptidase (angiotensinase C) 45 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 TAGTTCTTGGCTACAGCCGGG 0.647000 3 145 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90125915 90125915 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:90125915A>T ENST00000268138.7 + 2 759 c.e2-1 TICRR_ENST00000560985.1_Splice_Site|RP11-429B14.1_ENST00000559041.1_RNA TOPBP1-interacting checkpoint and replication regulator GTTTTATTTTAGTTGTGGGAA 0.398000 6 198 0 0 1 0 0 SLC35F1 222553 broad.mit.edu 37 6 118635189 118635189 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:118635189A>T ENST00000360388.4 + 8 1203 c.e8-1 NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) GTGTTTTTTTAGTTTTCAGGA 0.473000 4 58 0 0 1 0 0 ZADH2 284273 broad.mit.edu 37 18 72914297 72914297 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:72914297T>A ENST00000322342.3 - 2 499 c.e2-2 ZADH2_ENST00000537114.2_Splice_Site NM_175907.4 NP_787103.1 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain containing 2 peroxisome oxidoreductase activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(8)|skin(1) 15 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) CCAACAAATCTAAAAGAAAAC 0.428000 10 324 0 0 1 0 0 CADM4 199731 broad.mit.edu 37 19 44131001 44131001 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:44131001C>T ENST00000222374.2 - 4 482 c.434G>A c.(433-435)tGc>tAc p.C145Y NM_145296.1 NP_660339.1 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 145 Ig-like C2-type 1. cell adhesion integral to membrane endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) CGGAACGAGGCAGCTGAGCTC 0.672000 3 41 0 0 1 0 0 EIF3L 51386 broad.mit.edu 37 22 38247400 38247400 + Silent SNP T T C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:38247400T>C ENST00000412331.2 + 3 778 c.196T>C c.(196-198)Ttg>Ctg p.L66L EIF3L_ENST00000406934.1_5'UTR|EIF3L_ENST00000381683.6_Silent_p.L66L|EIF3L_ENST00000476955.1_3'UTR NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 66 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TGTCTCAGATTTGATTGACCA 0.438000 4 135 0 0 0.009096 0 0 BLK 640 broad.mit.edu 37 8 11412980 11412980 + Silent SNP C C A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:11412980C>A ENST00000259089.4 + 8 1351 c.759C>A c.(757-759)ggC>ggA p.G253G BLK_ENST00000529894.1_Silent_p.G182G NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 253 Protein kinase. 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) GACAATTCGGCGAAGTCTGGA 0.607000 34 87 1.22384e-17 2.1139e-17 0.054565 1 0 GREB1 9687 broad.mit.edu 37 2 11774455 11774455 + Silent SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:11774455C>T ENST00000381486.2 + 29 5490 c.5190C>T c.(5188-5190)aaC>aaT p.N1730N GREB1_ENST00000234142.5_Silent_p.N1730N|GREB1_ENST00000396123.1_Silent_p.N728N NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1730 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TGACCCAGAACGTGCAGTACA 0.657000 5 33 0 0 0.014758 0 0 SOGA2 23255 broad.mit.edu 37 18 8825455 8825455 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:8825455C>A ENST00000359865.3 + 15 4089 c.3947C>A c.(3946-3948)aCg>aAg p.T1316K SOGA2_ENST00000518815.1_Missense_Mutation_p.T641K|SOGA2_ENST00000306285.7_Missense_Mutation_p.T641K|SOGA2_ENST00000306329.11_Missense_Mutation_p.T1635K|SOGA2_ENST00000517570.1_Missense_Mutation_p.T1275K|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1275K NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1626 GGGTCCCGGACGATGGGGACC 0.612000 15 72 6.31663e-08 1.02141e-07 0.132662 1 0 DHX40 79665 broad.mit.edu 37 17 57663568 57663568 + Silent SNP A A G rs2697395 by1000genomes TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:57663568A>G ENST00000451169.2 + 14 1613 c.1254A>G c.(1252-1254)caA>caG p.Q418Q DHX40_ENST00000425628.3_Silent_p.Q389Q|DHX40_ENST00000251241.4_Silent_p.Q466Q Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 466 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding p.Q466Q(1) endometrium(7)|large_intestine(6)|lung(6)|prostate(1) 20 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CTCTTAAACAACTTTACCAGT 0.323000 4 25 0 0 0.009096 0 0 CAPN2 824 broad.mit.edu 37 1 223954130 223954130 + Silent SNP A A C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:223954130A>C ENST00000295006.5 + 16 2061 c.1752A>C c.(1750-1752)ctA>ctC p.L584L CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.L506L NM_001748.4 NP_001739.2 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 584 Domain IV.|EF-hand 1. proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) TTGACATGCTAGATGTATCCT 0.403000 9 65 0 0 0.069234 0 0 SUSD5 26032 broad.mit.edu 37 3 33195040 33195040 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:33195040C>A ENST00000309558.3 - 5 1501 c.1084G>T c.(1084-1086)Gtg>Ttg p.V362L NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 362 cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CTGCTCACCACTGGATCTCCT 0.552000 15 95 0.000308642 0.00047871 0.132662 1 0 MYO19 80179 broad.mit.edu 37 17 34861237 34861237 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:34861237G>T ENST00000431794.3 - 19 2326 c.1804C>A c.(1804-1806)Ctg>Atg p.L602M MYO19_ENST00000268852.9_Intron NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 602 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AGCTGCTCCAGTGAGGCCTGC 0.592000 8 63 5.18039e-06 8.20229e-06 0.038147 1 0 TRMT12 55039 broad.mit.edu 37 8 125463612 125463612 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:125463612C>G ENST00000328599.3 + 1 565 c.444C>G c.(442-444)ttC>ttG p.F148L TRMT12_ENST00000521443.1_Intron NM_017956.3 NP_060426.2 Q53H54 TYW2_HUMAN tRNA methyltransferase 12 homolog (S. cerevisiae) 148 tRNA processing methyltransferase activity breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) AAGACTGTTTCCAAGCCAAGC 0.567000 7 208 0 0 0.038147 0 0 NAV1 89796 broad.mit.edu 37 1 201772738 201772738 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:201772738C>A ENST00000367296.4 + 16 3955 c.3535C>A c.(3535-3537)Caa>Aaa p.Q1179K NAV1_ENST00000367295.1_Missense_Mutation_p.Q788K|NAV1_ENST00000367300.3_Missense_Mutation_p.Q1122K|NAV1_ENST00000367297.4_Missense_Mutation_p.Q1171K|NAV1_ENST00000367302.1_Missense_Mutation_p.Q1135K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.Q1179K NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1179 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 GATCAAGAGACAAAACTCCTC 0.443000 28 45 2.65835e-16 4.48965e-16 0.125774 1 0 HERC6 55008 broad.mit.edu 37 4 89334236 89334236 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:89334236C>T ENST00000380265.5 + 12 1559 c.1376C>T c.(1375-1377)aCg>aTg p.T459M HERC6_ENST00000264346.7_Missense_Mutation_p.T459M NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 459 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity p.T459M(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) CAGATAACTACGTGTCTCGAG 0.443000 15 677 0 0 0.033300 0 0 SETX 23064 broad.mit.edu 37 9 135158714 135158714 + Silent SNP T T C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:135158714T>C ENST00000372169.2 - 19 6665 c.6483A>G c.(6481-6483)ttA>ttG p.L2161L SETX_ENST00000393220.1_Silent_p.L2161L|SETX_ENST00000224140.5_Silent_p.L2161L Q7Z333 SETX_HUMAN senataxin 2161 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) ACTCAAGTAGTAAACCACCAC 0.478000 59 200 0 0 0.139131 0 0 SORCS3 22986 broad.mit.edu 37 10 106976771 106976771 + Silent SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:106976771C>T ENST00000369701.3 + 19 2852 c.2625C>T c.(2623-2625)atC>atT p.I875I SORCS3_ENST00000369699.4_Silent_p.I161I NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 875 PKD. integral to membrane neuropeptide receptor activity p.I875I(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) TCAGCCCCATCGAGGACGGCA 0.532000 31 66 0 0 0.134883 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607291 84607291 + Missense_Mutation SNP T T G TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:84607291T>G ENST00000344803.2 + 4 1953 c.1906T>G c.(1906-1908)Ttg>Gtg p.L636V NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GCAGGAAAGTTTGTGGGGCTT 0.478000 6 158 0 0 0.038147 0 0 DCLRE1C 64421 broad.mit.edu 37 10 14950897 14950897 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:14950897G>A ENST00000453695.2 - 14 1673 c.1229C>T c.(1228-1230)aCt>aTt p.T410I DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.T183I|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.T530I NM_001033855.1 NP_001029027.1 Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 530 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 17 GGAGATGTGAGTTGATTCTCC 0.453000 Non-homologous end-joining 5 114 0 0 0.014758 0 0 SYNE1 23345 broad.mit.edu 37 6 152749365 152749365 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:152749365C>T ENST00000367255.5 - 37 5552 c.4951G>A c.(4951-4953)Gag>Aag p.E1651K SYNE1_ENST00000341594.5_Missense_Mutation_p.E1721K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1651K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1651 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGCAGATTCTCCAGCGCCGTC 0.512000 HNSCC(10;0.0054) 6 343 0 0 0.029380 0 0 ANGPT1 284 broad.mit.edu 37 8 108276471 108276471 + Silent SNP T T C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:108276471T>C ENST00000520734.1 - 7 999 c.714A>G c.(712-714)aaA>aaG p.K238K ANGPT1_ENST00000520052.1_Silent_p.K237K|ANGPT1_ENST00000518386.1_5'UTR Q15389 ANGP1_HUMAN angiopoietin 1 438 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 blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|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|Tie receptor signaling pathway 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) TGAGGGCACATTTGCACATAC 0.433000 37 110 0 0 0.074837 0 0 LINC00969 440993 broad.mit.edu 37 3 195410687 195410687 + RNA SNP T T A rs6583274 by1000genomes TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:195410687T>A ENST00000445430.1 + 0 1884 CCCTTTGAGGTGCACTGGAGG 0.567000 3 32 0 0 0.115264 0 0 ESPNP 284729 broad.mit.edu 37 1 17034167 17034167 + RNA SNP G G A rs2988287 by1000genomes TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:17034167G>A ENST00000492551.1 - 0 436 NR_026567.1 CGCGAAGTGCGTGGCGGTGGC 0.731000 3 7 0 0 0.115264 0 0 EHHADH 1962 broad.mit.edu 37 3 184953206 184953206 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:184953206T>C ENST00000231887.3 - 3 298 c.223A>G c.(223-225)Aca>Gca p.T75A EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_5'UTR NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 75 Enoyl-CoA hydratase / isomerase. T -> I (in dbSNP:rs1062553). peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) TGTCCCAGTGTAAGGCCAAAT 0.493000 5 119 0 0 0.021553 0 0 CPA5 93979 broad.mit.edu 37 7 130008311 130008311 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:130008311G>A ENST00000485477.1 + 12 2313 c.1184G>A c.(1183-1185)aGc>aAc p.S395N CPA5_ENST00000393213.3_Missense_Mutation_p.S395N|CPA5_ENST00000466363.2_Missense_Mutation_p.S395N|CPA5_ENST00000461828.1_Missense_Mutation_p.S395N|CPA5_ENST00000431780.2_Missense_Mutation_p.A367T|CPA5_ENST00000355388.3_Missense_Mutation_p.S395N|CPA5_ENST00000474905.1_Missense_Mutation_p.S395N Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 395 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) TACGCCTTCAGCTTTGAGCTC 0.567000 69 226 0 0 0.139131 0 0 KIAA1143 57456 broad.mit.edu 37 3 44794950 44794950 + Silent SNP T T C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:44794950T>C ENST00000296121.4 - 3 407 c.348A>G c.(346-348)tcA>tcG p.S116S KIAA1143_ENST00000484437.1_5'UTR NM_020696.3 NP_065747.1 Q96AT1 K1143_HUMAN KIAA1143 116 NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582) TCTTCTTTTTTGAGCTTGCTG 0.373000 5 344 0 0 0.014758 0 0 IGSF3 3321 broad.mit.edu 37 1 117142736 117142736 + Missense_Mutation SNP A A G rs138851517 TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:117142736A>G ENST00000369486.3 - 7 2621 c.1856T>C c.(1855-1857)aTc>aCc p.I619T IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T|IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 619 Ig-like C2-type 5. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) AGCCTTCTCGATGGCAGTTCG 0.627000 3 45 0 0 0.029380 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607299 84607299 + Silent SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:84607299C>T ENST00000344803.2 + 4 1961 c.1914C>T c.(1912-1914)ggC>ggT p.G638G NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 p.G638G(2) GTTTGTGGGGCTTACCCTCTG 0.478000 6 156 0 0 0.038147 0 0 GRIA1 2890 broad.mit.edu 37 5 153190646 153190646 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:153190646G>A ENST00000285900.5 + 16 2925 c.2582G>A c.(2581-2583)cGc>cAc p.R861H GRIA1_ENST00000518783.1_Missense_Mutation_p.R871H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R871H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R861H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R781H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R792H NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 861 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 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding 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) ACCCTCCCCCGCAACAGCGGG 0.592000 22 81 0 0 0.125774 0 0 LILRA1 11024 broad.mit.edu 37 19 55106130 55106130 + Splice_Site SNP G G A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:55106130G>A ENST00000453777.1 + 4 241 c.70_splice c.e4-1 p.G24_splice LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Splice_Site_p.G24_splice|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 24 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity p.G24E(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TTCCTTCCAGGGACCCTCCCC 0.587000 32 142 0 0 0.054565 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102292785 102292785 + RNA SNP C C G rs61084368 TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:102292785C>G ENST00000561463.1 + 0 831 p.Q125E(1) TGCTGCTTCTCAGAGCTGCTG 0.602000 6 36 0 0 0.038147 0 0 OCA2 4948 broad.mit.edu 37 15 28230277 28230277 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:28230277C>T ENST00000354638.3 - 13 1452 c.1297G>A c.(1297-1299)Gcg>Acg p.A433T OCA2_ENST00000353809.5_Missense_Mutation_p.A409T|OCA2_ENST00000382996.2_Missense_Mutation_p.A433T NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 433 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGGACGGCCGCGATGAGACAG 0.597000 Oculocutaneous Albinism 5 78 0 0 0.029380 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 6 36 0 0 0.021553 0 0 TEX264 51368 broad.mit.edu 37 3 51708285 51708285 + Splice_Site SNP A A T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:51708285A>T ENST00000415259.1 + 2 1047 c.e2-1 TEX264_ENST00000341333.5_Splice_Site|TEX264_ENST00000457573.1_Splice_Site|TEX264_ENST00000416589.1_Splice_Site|TEX264_ENST00000395057.1_Splice_Site Q9Y6I9 TX264_HUMAN testis expressed 264 extracellular region NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) TCTCCTTTGCAGCTGCCTTGA 0.587000 32 118 0 0 0.054565 0 0 MAP3K13 9175 broad.mit.edu 37 3 185198109 185198109 + Missense_Mutation SNP G G C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:185198109G>C ENST00000265026.3 + 13 2925 c.2591G>C c.(2590-2592)aGt>aCt p.S864T MAP3K13_ENST00000424227.1_Missense_Mutation_p.S864T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S720T|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000446828.1_Missense_Mutation_p.S657T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.S720T NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 864 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GGAAATACCAGTGACCACTCA 0.488000 7 276 0 0 0.029380 0 0 MT-CO1 4512 broad.mit.edu 37 MT 6564 6564 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chrM:6564G>A ENST00000361624.2 + 1 661 c.661G>A c.(661-663)Gac>Aac p.221_221insN mitochondrially encoded cytochrome c oxidase I breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3) 54 CCACCTTCTTCGACCCCGCCG 0.488000 4 62 0 0 0.014758 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42127000 42127000 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:42127000C>T ENST00000382448.4 + 2 136 c.127C>T c.(127-129)Cgg>Tgg p.R43W JMJD7_ENST00000408047.1_Intron|JMJD7-PLA2G4B_ENST00000542534.1_Missense_Mutation_p.R43W|JMJD7_ENST00000405106.2_3'UTR|JMJD7_ENST00000397299.4_Missense_Mutation_p.R43W|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R43W NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN 0 C2. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 CCACTTCTACCGGGACTGGGT 0.602000 12 189 0 0 0.093190 0 0 TUSC5 286753 broad.mit.edu 37 17 1183365 1183365 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:1183365C>T ENST00000333813.3 + 1 409 c.70C>T c.(70-72)Ccg>Tcg p.P24S NM_172367.2 NP_758955.2 Q8IXB3 TUSC5_HUMAN tumor suppressor candidate 5 24 response to biotic stimulus integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCTGGACCTGCCGGAGATGGA 0.627000 4 117 0 0 0.009096 0 0 SLC25A21 89874 broad.mit.edu 37 14 37194883 37194883 + Splice_Site SNP C C G TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:37194883C>G ENST00000331299.5 - 6 846 c.e6-1 SLC25A21_ENST00000555449.1_Splice_Site NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) TGGCGAATGTCTAGAAAAATT 0.358000 12 124 0 0 0.080935 0 0 MT-ND6 4541 broad.mit.edu 37 MT 14312 14312 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chrM:14312A>G ENST00000361681.2 - 1 361 c.362T>C c.(361-363)gTa>gCa p.V121A mitochondrially encoded NADH dehydrogenase 6 breast(1)|endometrium(10)|kidney(17)|urinary_tract(1) 29 TTCAGCTTCCTACACTATTAA 0.468000 15 41 0 0 0.033300 0 0 TMEM108 66000 broad.mit.edu 37 3 133098622 133098622 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:133098622G>A ENST00000515826.1 + 3 190 c.67G>A c.(67-69)Gaa>Aaa p.E23K TMEM108_ENST00000321871.6_Missense_Mutation_p.E23K|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K Q6UXF1 TM108_HUMAN transmembrane protein 108 23 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GGCACTGACCGAAGCGCTGGC 0.552000 20 824 0 0 0.043863 0 0 AMER3 205147 broad.mit.edu 37 2 131520926 131520926 + Silent SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:131520926C>T ENST00000423981.1 + 2 1391 c.1281C>T c.(1279-1281)caC>caT p.H427H AMER3_ENST00000321420.4_Silent_p.H427H NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 AGCTCTTCCACGACCCCAGCG 0.637000 25 46 0 0 0.116897 0 0 MKI67 4288 broad.mit.edu 37 10 129906236 129906236 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:129906236G>A ENST00000368654.3 - 13 4243 c.3868C>T c.(3868-3870)Cca>Tca p.P1290S MKI67_ENST00000368653.3_Missense_Mutation_p.P930S NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1290 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CCTGCTGATGGCATTAGATTC 0.488000 9 1184 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76075500 76075500 + RNA SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:76075500G>A ENST00000395215.3 + 0 1140 gagaggctgcgaaaggaggag 0.607000 14 150 0 0 1 0 0 SLC10A4 201780 broad.mit.edu 37 4 48490662 48490662 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:48490662T>C ENST00000273861.4 + 3 1239 c.1020T>C c.(1018-1020)aaT>aaC p.N340N NM_152679.3 NP_689892.1 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 340 integral to membrane bile acid:sodium symporter activity central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 6 GTAGTCAGAATGTGCAGCTCT 0.468000 4 193 0 0 1 0 0 GPR64 10149 broad.mit.edu 37 X 19018058 19018058 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:19018058T>C ENST00000379878.3 - 24 2444 c.2203A>G c.(2203-2205)Acc>Gcc p.T735A GPR64_ENST00000379876.1_Missense_Mutation_p.T727A|GPR64_ENST00000357991.3_Missense_Mutation_p.T748A|GPR64_ENST00000340581.3_Missense_Mutation_p.T632A|GPR64_ENST00000357544.3_Missense_Mutation_p.T721A|GPR64_ENST00000379873.2_Missense_Mutation_p.T751A|GPR64_ENST00000360279.4_Missense_Mutation_p.T729A|GPR64_ENST00000379869.3_Missense_Mutation_p.T751A|GPR64_ENST00000354791.3_Missense_Mutation_p.T735A|GPR64_ENST00000356606.4_Missense_Mutation_p.T737A NM_001184833.1 NP_001171762.1 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 751 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) AGGATGATGGTCACAACCACA 0.453000 5 175 0 0 1 0 0 CA14 23632 broad.mit.edu 37 1 150237049 150237049 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:150237049C>A ENST00000369111.4 + 11 1974 c.1004C>A c.(1003-1005)aCt>aAt p.T335N NM_012113.1 NP_036245.1 Q9ULX7 CAH14_HUMAN carbonic anhydrase XIV 335 integral to membrane carbonate dehydratase activity|metal ion binding central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 18 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CAAGCCACGACTGAGGCATAA 0.478000 39 169 4.90955e-16 6.64618e-16 1 1 0 SLC9A9 285195 broad.mit.edu 37 3 143292951 143292951 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:143292951C>T ENST00000316549.6 - 8 1187 c.979G>A c.(979-981)Gcc>Acc p.A327T NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 327 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 GCAGCCTCGGCAGACAGGAAG 0.532000 5 91 0 0 1 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986719 11986719 + RNA SNP G G C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:11986719G>C ENST00000434078.2 + 0 608 NR_027425.1 TGGATTTCAGGAAAAGCTGCA 0.522000 3 88 0 0 1 0 0 AGAP3 116988 broad.mit.edu 37 7 150839661 150839661 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:150839661C>T ENST00000397238.2 + 16 2213 c.2213C>T c.(2212-2214)gCc>gTc p.A738V AGAP3_ENST00000463381.1_Missense_Mutation_p.A407V NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 702 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 AATGCCCTCGCCAACAGCGTC 0.667000 17 37 0 0 1 0 0 NADSYN1 55191 broad.mit.edu 37 11 71208625 71208625 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:71208625G>A ENST00000319023.2 + 19 2049 c.1861G>A c.(1861-1863)Ggc>Agc p.G621S NADSYN1_ENST00000530055.1_Missense_Mutation_p.G250S|NADSYN1_ENST00000539574.1_Missense_Mutation_p.G361S NM_018161.4 NP_060631.2 Q6IA69 NADE_HUMAN NAD synthetase 1 621 Ligase (By similarity). NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CAAACTCCTCGGCATGTGGAG 0.547000 8 569 0 0 1 0 0 TMEM42 131616 broad.mit.edu 37 3 44906548 44906548 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:44906548T>C ENST00000302392.4 + 3 412 c.356T>C c.(355-357)gTg>gCg p.V119A NM_144638.1 NP_653239.1 Q69YG0 TMM42_HUMAN transmembrane protein 42 119 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576) CTGGGCTATGTGCTGTATGGA 0.557000 6 476 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135158714 135158714 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:135158714T>C ENST00000372169.2 - 19 6665 c.6483A>G c.(6481-6483)ttA>ttG p.L2161L SETX_ENST00000393220.1_Silent_p.L2161L|SETX_ENST00000224140.5_Silent_p.L2161L Q7Z333 SETX_HUMAN senataxin 2161 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) ACTCAAGTAGTAAACCACCAC 0.478000 48 126 0 0 1 0 0 SLC36A1 206358 broad.mit.edu 37 5 150859002 150859002 + Nonsense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:150859002G>T ENST00000243389.3 + 10 1334 c.1111G>T c.(1111-1113)Gag>Tag p.E371* SLC36A1_ENST00000520701.1_Nonsense_Mutation_p.E371*|SLC36A1_ENST00000521925.1_Nonsense_Mutation_p.E371* NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 371 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) CGAGCACTGTGAGTTAGTGGT 0.527000 20 467 2.21704e-12 2.93873e-12 1 1 0 GPR87 53836 broad.mit.edu 37 3 151012468 151012468 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:151012468A>T ENST00000260843.4 - 3 1030 c.566T>A c.(565-567)aTc>aAc p.I189N MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron NM_023915.3 NP_076404.3 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 189 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 19 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGTCATGGATATTGTCCTC 0.448000 5 489 0 0 1 0 0 ZNF57 126295 broad.mit.edu 37 19 2917735 2917735 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:2917735C>A ENST00000306908.5 + 4 1264 c.1116C>A c.(1114-1116)gcC>gcA p.A372A ZNF57_ENST00000523428.1_Silent_p.A340A|AC006277.2_ENST00000520090.2_RNA NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 372 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) GTGGGAAAGCCTTCACTTGGT 0.438000 45 140 2.18419e-29 3.08821e-29 1 1 0 SYTL2 54843 broad.mit.edu 37 11 85468686 85468686 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:85468686G>A ENST00000316356.4 - 2 647 c.83C>T c.(82-84)gCc>gTc p.A28V SYTL2_ENST00000528231.1_Missense_Mutation_p.A28V|SYTL2_ENST00000389960.4_Missense_Mutation_p.A28V|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000524452.1_Missense_Mutation_p.A28V Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 28 RabBD. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CTCTTCTTCGGCCCTCTTCAG 0.478000 12 1018 0 0 1 0 0 GPR65 8477 broad.mit.edu 37 14 88477948 88477948 + Nonsense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:88477948G>T ENST00000267549.3 + 2 1315 c.757G>T c.(757-759)Gag>Tag p.E253* RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 253 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 CTGCATTTTAGAGCATGCTGT 0.383000 5 252 1.23904e-05 1.45652e-05 1 1 0 BLK 640 broad.mit.edu 37 8 11412980 11412980 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:11412980C>A ENST00000259089.4 + 8 1351 c.759C>A c.(757-759)ggC>ggA p.G253G BLK_ENST00000529894.1_Silent_p.G182G NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 253 Protein kinase. 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) GACAATTCGGCGAAGTCTGGA 0.607000 7 58 0.335167 0.337822 1 1 0 MYL1 4632 broad.mit.edu 37 2 211163200 211163200 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:211163200C>T ENST00000352451.3 - 3 395 c.248G>A c.(247-249)gGc>gAc p.G83D MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Missense_Mutation_p.G39D NM_079420.2 NP_524144.1 P05976 MYL1_HUMAN myosin, light chain 1, alkali; skeletal, fast 83 EF-hand 1. muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) GGGATTTGTGCCCAGAGCTCG 0.463000 4 168 0 0 1 0 0 GZF1 64412 broad.mit.edu 37 20 23345617 23345617 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:23345617G>T ENST00000338121.5 + 2 674 c.597G>T c.(595-597)aaG>aaT p.K199N GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.K199N Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 199 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TGCCACCGAAGAAGTCCAAGG 0.527000 6 272 0.00307968 0.00337835 1 1 0 OR52B6 340980 broad.mit.edu 37 11 5602518 5602518 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:5602518G>T ENST00000345043.2 + 1 412 c.412G>T c.(412-414)Gcc>Tcc p.A138S HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTGGCCATGGCCTTTGACCG 0.522000 37 322 9.80977e-26 1.36799e-25 1 1 0 FRYL 285527 broad.mit.edu 37 4 48523136 48523136 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:48523136C>A ENST00000537810.1 - 55 8222 c.7618G>T c.(7618-7620)Gtg>Ttg p.V2540L FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.V2540L|FRYL_ENST00000358350.4_Missense_Mutation_p.V2540L O94915 FRYL_HUMAN FRY-like 2540 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 ATTTGAAGCACTTCCTCTGTT 0.488000 7 351 0.00307968 0.00337835 1 1 0 ATP2A2 488 broad.mit.edu 37 12 110777203 110777203 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:110777203G>A ENST00000395494.2 + 11 2019 c.1456G>A c.(1456-1458)Gtg>Atg p.V486M ATP2A2_ENST00000308664.6_Missense_Mutation_p.V513M|ATP2A2_ENST00000539276.2_Missense_Mutation_p.V513M P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 513 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CAAGATGTTTGTGAAGGCAAG 0.373000 3 45 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66463969 66463969 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:66463969G>A ENST00000533211.1 - 21 4388 c.4057C>T c.(4057-4059)Ctg>Ttg p.L1353L SPTBN2_ENST00000529997.1_Silent_p.L1353L|SPTBN2_ENST00000309996.2_Silent_p.L1353L O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1353 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 TCCGACACCAGGGCTTTCAGC 0.577000 5 757 0 0 1 0 0 GALNT15 117248 broad.mit.edu 37 3 16254213 16254213 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:16254213G>A ENST00000339732.5 + 6 1838 c.1335G>A c.(1333-1335)ctG>ctA p.L445L GALNT15_ENST00000437509.1_Silent_p.L445L NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 AGACCTGGCTGGGGTCATTCA 0.562000 6 796 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72685542 72685542 + RNA SNP G G A rs2539086 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:72685542G>A ENST00000425256.1 - 0 116 NR_002164.1 ACGTTACCATGACAAAAGCAG 0.463000 4 258 0 0 1 0 0 ETAA1 54465 broad.mit.edu 37 2 67632411 67632411 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:67632411C>T ENST00000272342.5 + 5 2727 c.2597C>T c.(2596-2598)gCt>gTt p.A866V ETAA1_ENST00000462772.1_3'UTR NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 866 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 CTGGAGGAAGCTGTTGGACAG 0.333000 3 36 0 0 1 0 0 ACAP1 9744 broad.mit.edu 37 17 7246727 7246727 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:7246727G>A ENST00000158762.3 + 6 580 c.374G>A c.(373-375)cGg>cAg p.R125Q ACAP1_ENST00000573893.1_3'UTR NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 125 BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 GAGGCTCGCCGGGATTTCTGG 0.632000 4 177 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56722041 56722041 + Missense_Mutation SNP G G A rs143838622 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:56722041G>A ENST00000425394.2 - 4 930 c.554C>T c.(553-555)aCt>aTt p.T185I PAN2_ENST00000440411.3_Missense_Mutation_p.T185I|PAN2_ENST00000257931.5_Missense_Mutation_p.T185I|PAN2_ENST00000548043.1_Missense_Mutation_p.T185I NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 185 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CTCCTGGACAGTGTTAAGATC 0.507000 5 376 0 0 1 0 0 DGKH 160851 broad.mit.edu 37 13 42788641 42788641 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr13:42788641A>T ENST00000379274.2 + 25 3035 c.e25-1 DGKH_ENST00000536612.1_Splice_Site|DGKH_ENST00000540693.1_Splice_Site|DGKH_ENST00000261491.4_Splice_Site|DGKH_ENST00000498255.2_Splice_Site|DGKH_ENST00000538674.1_Splice_Site|DGKH_ENST00000337343.4_Splice_Site Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) TTTTGCTTTTAGGATATGTGA 0.358000 5 147 0 0 1 0 0 BMP7 655 broad.mit.edu 37 20 55758861 55758861 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:55758861C>T ENST00000395863.3 - 4 1380 c.875G>A c.(874-876)cGg>cAg p.R292Q BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000450594.2_Missense_Mutation_p.R292Q NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 292 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) CCCCGTGGACCGGATGCTGCG 0.637000 5 776 0 0 1 0 0 STAT2 6773 broad.mit.edu 37 12 56749927 56749927 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:56749927G>A ENST00000314128.4 - 3 297 c.274C>T c.(274-276)Cgg>Tgg p.R92W STAT2_ENST00000418572.2_Missense_Mutation_p.R92W|STAT2_ENST00000557235.1_Missense_Mutation_p.R92W P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 92 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 TGAATGTCCCGGCAGAATTTC 0.512000 6 433 0 0 1 0 0 MGP 4256 broad.mit.edu 37 12 15038693 15038693 + Silent SNP G G A rs142282008 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:15038693G>A ENST00000539261.1 - 1 167 c.33C>T c.(31-33)gcC>gcT p.A11A C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Silent_p.A11A NM_000900.3 NP_000891.2 P08493 MGP_HUMAN matrix Gla protein 11 cartilage condensation|cell differentiation|ossification|regulation of bone mineralization proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent|structural constituent of bone large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 7 CCGCTAAGGCGGCCAGGATGG 0.478000 4 203 0 0 1 0 0 ETAA1 54465 broad.mit.edu 37 2 67630070 67630070 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:67630070C>A ENST00000272342.5 + 4 636 c.506C>A c.(505-507)gCa>gAa p.A169E ETAA1_ENST00000462772.1_3'UTR NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 169 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 CCCAGTGTAGCAAAAGGAAAA 0.353000 7 66 0.0381472 0.0398705 1 1 0 PCDHB14 56122 broad.mit.edu 37 5 140604589 140604589 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:140604589C>A ENST00000239449.4 + 1 1512 c.1512C>A c.(1510-1512)gtC>gtA p.V504V PCDHB14_ENST00000515856.2_Silent_p.V351V NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 504 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTCCTTGGTCTCCATCAACG 0.657000 3 79 0.184627 0.188705 1 1 0 KIF19 124602 broad.mit.edu 37 17 72345343 72345343 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:72345343C>T ENST00000389916.4 + 10 1206 c.1068C>T c.(1066-1068)aaC>aaT p.N356N NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 356 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 ACCTCCTGAACGTCTCCTACC 0.617000 5 77 0 0 1 0 0 TXNIP 10628 broad.mit.edu 37 1 145440676 145440676 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:145440676G>A ENST00000369317.4 + 6 1210 c.876G>A c.(874-876)ctG>ctA p.L292L TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 292 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCCTTGACCTGCCCCTGGTAA 0.498000 8 116 0 0 1 0 0 KLHL14 57565 broad.mit.edu 37 18 30350146 30350146 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr18:30350146G>T ENST00000359358.4 - 2 847 c.409C>A c.(409-411)Ctg>Atg p.L137M KLHL14_ENST00000358095.4_Missense_Mutation_p.L137M|AC012123.1_ENST00000426194.1_Intron NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 137 BTB. cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 TCGAGCACCAGGCGCAGCCCG 0.657000 4 136 0.000602214 0.000670738 1 1 0 ALOX5AP 241 broad.mit.edu 37 13 31330136 31330136 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr13:31330136C>T ENST00000380490.3 + 4 395 c.297C>T c.(295-297)gtC>gtT p.V99V NM_001204406.1|NM_001629.3 NP_001191335.1|NP_001620.2 P20292 AL5AP_HUMAN arachidonate 5-lipoxygenase-activating protein 99 cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane arachidonic acid binding|protein N-terminus binding endometrium(1)|large_intestine(1)|ovary(1)|prostate(1) 4 Lung SC(185;0.0257)|Breast(139;0.203) all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864) AGTACTTTGTCGGTTACCTAG 0.448000 4 164 0 0 1 0 0 MMS22L 253714 broad.mit.edu 37 6 97599721 97599721 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:97599721G>T ENST00000275053.4 - 23 3673 c.3408C>A c.(3406-3408)aaC>aaA p.N1136K MMS22L_ENST00000369251.2_Missense_Mutation_p.N1096K NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 1136 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 TGTATTGCAGGTTCTCTGTGG 0.438000 150 376 1.06673e-69 1.56024e-69 1 1 0 DCAF4 26094 broad.mit.edu 37 14 73422349 73422349 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:73422349C>A ENST00000553457.1 + 11 1114 c.824C>A c.(823-825)tCt>tAt p.S275Y DCAF4_ENST00000555042.1_Missense_Mutation_p.S369Y|DCAF4_ENST00000394234.2_Missense_Mutation_p.S275Y|DCAF4_ENST00000358377.2_Missense_Mutation_p.S375Y|DCAF4_ENST00000353777.3_Missense_Mutation_p.S205Y|DCAF4_ENST00000509153.1_Missense_Mutation_p.S315Y Q8WV16 DCAF4_HUMAN DDB1 and CUL4 associated factor 4 375 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 GCAGTGACCTCTGTGCGGATC 0.547000 15 402 8.00594e-06 9.54338e-06 1 1 0 NAV2 89797 broad.mit.edu 37 11 20089935 20089935 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:20089935G>A ENST00000396085.1 + 22 5335 c.4974G>A c.(4972-4974)ctG>ctA p.L1658L NAV2_ENST00000540292.1_Silent_p.L1645L|NAV2_ENST00000311043.8_Silent_p.L722L|NAV2_ENST00000349880.4_Silent_p.L1658L|NAV2_ENST00000533917.1_Silent_p.L722L|NAV2_ENST00000527559.2_Silent_p.L1643L|NAV2_ENST00000360655.4_Silent_p.L1594L|NAV2_ENST00000396087.3_Silent_p.L1714L NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1714 Ser-rich. 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 CCACCCAGCTGACAGCAAATG 0.512000 15 84 0 0 1 0 0 MTG2 26164 broad.mit.edu 37 20 60773849 60773849 + Nonsense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:60773849C>T ENST00000370823.3 + 5 646 c.628C>T c.(628-630)Cag>Tag p.Q210* MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Intron|MTG2_ENST00000461411.1_3'UTR NM_015666.3 NP_056481.1 mitochondrial ribosome-associated GTPase 2 TACCCCTGGACAGCCAGGACA 0.627000 5 58 0 0 1 0 0 ZNF148 7707 broad.mit.edu 37 3 124952163 124952163 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:124952163C>A ENST00000360647.4 - 9 1892 c.1407G>T c.(1405-1407)caG>caT p.Q469H ZNF148_ENST00000484491.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.Q469H|ZNF148_ENST00000497929.1_5'UTR NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 469 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 TCTTCAAAAACTGCATGGCAT 0.443000 13 304 1.49906e-05 1.75811e-05 1 1 0 KANK1 23189 broad.mit.edu 37 9 738458 738458 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:738458C>T ENST00000382303.1 + 12 4159 c.3507C>T c.(3505-3507)agC>agT p.S1169S KANK1_ENST00000382297.2_Silent_p.S1169S|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.S1011S NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1169 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCCATTACAGCGTGTCCCACT 0.527000 6 899 0 0 1 0 0 RARB 5915 broad.mit.edu 37 3 25611305 25611305 + Nonsense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:25611305G>T ENST00000330688.4 + 4 926 c.505G>T c.(505-507)Gag>Tag p.E169* RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Nonsense_Mutation_p.E57*|RARB_ENST00000404969.1_Nonsense_Mutation_p.E176*|RARB_ENST00000437042.2_Nonsense_Mutation_p.E57* NM_000965.3 NP_000956.2 P10826 RARB_HUMAN retinoic acid receptor, beta 176 Hinge. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) AGAATGCACAGAGAGCTATGA 0.488000 5 80 1.23904e-05 1.45652e-05 1 1 0 ZP2 7783 broad.mit.edu 37 16 21209092 21209092 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:21209092G>A ENST00000574002.1 - 19 2572 c.2090C>T c.(2089-2091)tCa>tTa p.S697L ZP2_ENST00000219593.4_Missense_Mutation_p.S697L|ZP2_ENST00000574091.1_Missense_Mutation_p.S688L|AF001550.7_ENST00000572747.1_RNA Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 697 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) CTTACCTCGTGAGCCAACCTC 0.473000 9 518 0 0 1 0 0 IL32 9235 broad.mit.edu 37 16 3119294 3119294 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:3119294C>A ENST00000525643.2 + 7 837 c.505C>A c.(505-507)Cca>Aca p.P169T IL32_ENST00000396887.3_Missense_Mutation_p.P112T|IL32_ENST00000548476.1_Missense_Mutation_p.P215T|IL32_ENST00000531965.1_Missense_Mutation_p.P159T|IL32_ENST00000529550.1_Missense_Mutation_p.P169T|IL32_ENST00000549213.1_Missense_Mutation_p.P112T|IL32_ENST00000529699.1_Missense_Mutation_p.P149T|IL32_ENST00000552664.1_Missense_Mutation_p.P169T|IL32_ENST00000534507.1_Missense_Mutation_p.P215T|IL32_ENST00000008180.9_Missense_Mutation_p.P149T|IL32_ENST00000548652.1_Missense_Mutation_p.P160T|IL32_ENST00000552936.1_Missense_Mutation_p.P193T|IL32_ENST00000530538.2_Missense_Mutation_p.P169T|IL32_ENST00000528163.2_Missense_Mutation_p.P169T|IL32_ENST00000551513.1_Missense_Mutation_p.P206T|IL32_ENST00000440815.3_Missense_Mutation_p.P169T|IL32_ENST00000382213.3_Missense_Mutation_p.P160T|IL32_ENST00000526464.2_Missense_Mutation_p.P169T|IL32_ENST00000325568.5_Missense_Mutation_p.P169T|IL32_ENST00000530890.1_Missense_Mutation_p.P149T|IL32_ENST00000548246.1_Missense_Mutation_p.P129T|IL32_ENST00000396890.2_Missense_Mutation_p.P215T|IL32_ENST00000552356.1_Missense_Mutation_p.P149T|IL32_ENST00000444393.3_Missense_Mutation_p.P169T|IL32_ENST00000533097.2_Missense_Mutation_p.P169T|IL32_ENST00000551122.1_Missense_Mutation_p.P112T P24001 IL32_HUMAN interleukin 32 215 cell adhesion|defense response|immune response extracellular space cytokine activity p.P169T(1) breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CTACGGAGCCCCACGGGGGGA 0.582000 3 63 0.184627 0.188705 1 1 0 IQCH 64799 broad.mit.edu 37 15 67677314 67677314 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:67677314C>T ENST00000335894.4 + 11 1479 c.1413C>T c.(1411-1413)aaC>aaT p.N471N IQCH_ENST00000358767.3_Silent_p.N298N|IQCH_ENST00000360277.4_Silent_p.N223N|IQCH_ENST00000546225.1_Silent_p.N219N NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 471 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) CCGATTTCAACACACAGCAGA 0.418000 4 245 0 0 1 0 0 MED17 9440 broad.mit.edu 37 11 93542882 93542882 + Splice_Site SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:93542882G>T ENST00000251871.3 + 11 1871 c.e11-1 MED17_ENST00000533367.1_Splice_Site NM_004268.4 NP_004259.3 Q9NVC6 MED17_HUMAN mediator complex subunit 17 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(2)|lung(11)|ovary(1) 14 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTCATTCACAGATGTCACAGC 0.463000 11 153 1.08611e-07 1.33534e-07 1 1 0 CNOT7 29883 broad.mit.edu 37 8 17102635 17102635 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:17102635G>T ENST00000361272.4 - 2 325 c.27C>A c.(25-27)agC>agA p.S9R CNOT7_ENST00000523917.1_Missense_Mutation_p.S9R|CNOT7_ENST00000518885.1_5'UTR NM_013354.5 NP_037486.2 Q9UIV1 CNOT7_HUMAN CCR4-NOT transcription complex, subunit 7 9 carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6) 11 Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209) AAATTCTTTGGCTATGATCTA 0.383000 14 83 3.45872e-05 4.01938e-05 1 1 0 CYP2R1 120227 broad.mit.edu 37 11 14900719 14900719 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:14900719C>A ENST00000532378.1 - 5 1426 c.572G>T c.(571-573)cGa>cTa p.R191L CYP2R1_ENST00000334636.5_Missense_Mutation_p.R424L Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, polypeptide 1 424 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) GTCCAGAAATCGCTCAGGATG 0.403000 61 255 3.28615e-30 4.6592e-30 1 1 0 HUWE1 10075 broad.mit.edu 37 X 53560368 53560368 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:53560368T>A ENST00000342160.3 - 83 13484 c.13027A>T c.(13027-13029)Aat>Tat p.N4343Y HUWE1_ENST00000262854.6_Missense_Mutation_p.N4343Y Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4343 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TCCAGCTGATTAAAACTAAGG 0.507000 5 163 0 0 1 0 0 SLC35B4 84912 broad.mit.edu 37 7 133985015 133985015 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:133985015T>A ENST00000378509.4 - 7 787 c.e7-2 NM_032826.4 NP_116215.1 Q969S0 S35B4_HUMAN solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4 Golgi membrane|integral to membrane UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity large_intestine(1)|lung(2)|skin(1)|stomach(1) 5 CCCCAATACCTAAAAAACAAA 0.378000 7 250 0 0 1 0 0 SST 6750 broad.mit.edu 37 3 187386955 187386955 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:187386955C>T ENST00000287641.3 - 2 356 c.249G>A c.(247-249)agG>agA p.R83R NM_001048.3 NP_001039.1 P61278 SMS_HUMAN somatostatin 83 digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission extracellular space hormone activity kidney(1)|large_intestine(1)|lung(6)|pancreas(1) 9 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.00444) Bromocriptine(DB01200)|Cysteamine(DB00847) GCAGCTCAAGCCTCATTTCAT 0.517000 11 1405 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 57013287 57013287 + Nonsense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:57013287G>T ENST00000370706.4 + 10 2648 c.2404G>T c.(2404-2406)Gag>Tag p.E802* ZNF451_ENST00000357489.3_Nonsense_Mutation_p.E802*|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.E802*|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 802 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TCATGATCCTGAGAGTGCACA 0.423000 3 63 0.004672 0.00507046 1 1 0 GRIA1 2890 broad.mit.edu 37 5 153190646 153190646 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:153190646G>A ENST00000285900.5 + 16 2925 c.2582G>A c.(2581-2583)cGc>cAc p.R861H GRIA1_ENST00000518783.1_Missense_Mutation_p.R871H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R792H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R861H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R781H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R871H NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 861 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 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding 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) ACCCTCCCCCGCAACAGCGGG 0.592000 9 29 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107050819 107050819 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:107050819C>A ENST00000409886.3 - 15 2157 c.2070G>T c.(2068-2070)agG>agT p.R690S RGPD3_ENST00000304514.7_Missense_Mutation_p.R690S NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 690 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CTTCTGCCTTCCTGTGAAAAA 0.368000 5 60 0.248553 0.252018 1 1 0 DGKI 9162 broad.mit.edu 37 7 137237231 137237231 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:137237231C>T ENST00000453654.1 - 20 1670 c.1131G>A c.(1129-1131)atG>atA p.M377I DGKI_ENST00000424189.2_Missense_Mutation_p.M677I|DGKI_ENST00000288490.5_Missense_Mutation_p.M677I|DGKI_ENST00000446122.1_Missense_Mutation_p.M677I O75912 DGKI_HUMAN diacylglycerol kinase, iota 677 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CATCCACTTGCATGGGGATGG 0.517000 8 821 0 0 1 0 0 TMTC4 84899 broad.mit.edu 37 13 101294527 101294527 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr13:101294527G>T ENST00000342624.5 - 7 937 c.679C>A c.(679-681)Ctg>Atg p.L227M TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Missense_Mutation_p.L208M|TMTC4_ENST00000328767.5_Missense_Mutation_p.L97M NM_032813.2 NP_116202.2 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat containing 4 208 integral to membrane binding breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ATACTCAGCAGCACCCAGAAG 0.502000 40 152 4.45467e-35 6.38711e-35 1 1 0 SOGA2 23255 broad.mit.edu 37 18 8825455 8825455 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr18:8825455C>A ENST00000359865.3 + 15 4089 c.3947C>A c.(3946-3948)aCg>aAg p.T1316K SOGA2_ENST00000518815.1_Missense_Mutation_p.T641K|SOGA2_ENST00000306285.7_Missense_Mutation_p.T641K|SOGA2_ENST00000517570.1_Missense_Mutation_p.T1275K|SOGA2_ENST00000306329.11_Missense_Mutation_p.T1635K|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1275K NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1626 GGGTCCCGGACGATGGGGACC 0.612000 5 26 0.0215528 0.022713 1 1 0 MAP3K13 9175 broad.mit.edu 37 3 185198109 185198109 + Missense_Mutation SNP G G C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:185198109G>C ENST00000265026.3 + 13 2925 c.2591G>C c.(2590-2592)aGt>aCt p.S864T MAP3K13_ENST00000446828.1_Missense_Mutation_p.S657T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S864T|TMEM41A_ENST00000475480.1_5'UTR|MAP3K13_ENST00000443863.1_Missense_Mutation_p.S720T NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 864 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GGAAATACCAGTGACCACTCA 0.488000 4 130 0 0 1 0 0 VANGL2 57216 broad.mit.edu 37 1 160395071 160395071 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:160395071G>A ENST00000368061.2 + 8 1943 c.1469G>A c.(1468-1470)aGc>aAc p.S490N NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 490 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) CTGGTGGTCAGCACCAAGAAG 0.527000 4 346 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152081372 152081372 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:152081372G>A ENST00000368804.1 - 2 4320 c.4321C>T c.(4321-4323)Cgc>Tgc p.R1441C NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1441 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTTCCTGGCGGCGCACCTGC 0.577000 OREG0031687 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 4 120 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 45000995 45000995 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:45000995C>T ENST00000429094.2 - 15 2124 c.1620G>A c.(1618-1620)gtG>gtA p.V540V NELL2_ENST00000549027.1_Silent_p.V539V|NELL2_ENST00000395487.2_Silent_p.V539V|NELL2_ENST00000333837.4_Silent_p.V563V|NELL2_ENST00000551601.1_Silent_p.V539V|NELL2_ENST00000452445.2_Silent_p.V540V|NELL2_ENST00000437801.2_Silent_p.V590V NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 540 EGF-like 4. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) GGCAGGCACACACATTAGCGG 0.383000 23 71 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110535099 110535099 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:110535099G>T ENST00000378402.5 + 75 12414 c.12310G>T c.(12310-12312)Gta>Tta p.V4104L NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 4104 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GCAGCCTTCGGTAAAGGCAAC 0.458000 HNSCC(38;0.096) 11 69 3.99206e-14 5.34726e-14 1 1 0 SCN11A 11280 broad.mit.edu 37 3 38941494 38941494 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:38941494C>T ENST00000450244.1 - 13 2111 c.1913G>A c.(1912-1914)cGc>cAc p.R638H SCN11A_ENST00000444237.2_Missense_Mutation_p.R638H|SCN11A_ENST00000302328.3_Missense_Mutation_p.R638H|SCN11A_ENST00000456224.3_Missense_Mutation_p.R638H Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 638 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CCAGCCTCGGCGAAAGTAGTG 0.423000 4 183 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 124097418 124097418 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:124097418C>T ENST00000422452.2 - 1 248 c.185G>A c.(184-186)aGa>aAa p.R62K TENM1_ENST00000371130.3_Missense_Mutation_p.R62K NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TTTCCTCTTTCTACTCTGGCT 0.368000 5 321 0 0 1 0 0 ATXN7L2 127002 broad.mit.edu 37 1 110032907 110032907 + Silent SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:110032907G>T ENST00000369870.3 + 9 1266 c.1251G>T c.(1249-1251)ggG>ggT p.G417G NM_153340.4 NP_699171.3 Q5T6C5 AT7L2_HUMAN ataxin 7-like 2 417 breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1) 17 all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453) Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228) GCACCTTTGGGAGCCGGCTGG 0.597000 OREG0013635 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 61 2.0095e-06 2.42378e-06 1 1 0 NUP188 23511 broad.mit.edu 37 9 131733230 131733230 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:131733230G>T ENST00000372577.2 + 11 1127 c.1106G>T c.(1105-1107)gGa>gTa p.G369V NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 369 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GCCAGTGGGGGAAATGATGTG 0.488000 19 377 3.62473e-10 4.65906e-10 1 1 0 FYB 2533 broad.mit.edu 37 5 39153708 39153708 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:39153708T>A ENST00000351578.6 - 3 1326 c.e3-2 FYB_ENST00000505428.1_Splice_Site|FYB_ENST00000512982.1_Splice_Site|FYB_ENST00000515010.1_Splice_Site|FYB_ENST00000540520.1_Splice_Site NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding 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) TGCTAGTACCTAAGAAGCAAA 0.423000 5 168 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90128381 90128381 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:90128381T>C ENST00000407825.1 - 7 849 c.212A>G c.(211-213)gAg>gGg p.E71G PRDM7_ENST00000449207.2_Missense_Mutation_p.E277G|PRDM7_ENST00000325921.6_Missense_Mutation_p.E71G Q9NQW5 PRDM7_HUMAN PR domain containing 7 277 KRAB-related. chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) AATTCGGCCCTCATAGGGGCC 0.557000 5 669 0 0 1 0 0 VSIG4 11326 broad.mit.edu 37 X 65253426 65253426 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:65253426C>A ENST00000455586.2 - 2 428 c.302G>T c.(301-303)aGc>aTc p.S101I VSIG4_ENST00000374737.4_Missense_Mutation_p.S101I|VSIG4_ENST00000412866.2_Missense_Mutation_p.S101I NM_001184830.1 NP_001171759.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 101 Ig-like 1. complement activation, alternative pathway integral to membrane protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTCCAGGGTGCTCAATTGGAG 0.532000 8 408 1.76689e-08 2.19353e-08 1 1 0 PRC1 9055 broad.mit.edu 37 15 91517866 91517866 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:91517866T>C ENST00000361188.5 - 10 2510 c.1299A>G c.(1297-1299)gcA>gcG p.A433A PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Silent_p.A433A|PRC1_ENST00000394249.3_Silent_p.A433A|PRC1_ENST00000442656.2_Silent_p.A392A O43663 PRC1_HUMAN protein regulator of cytokinesis 1 433 Spectrin-fold. cytokinesis|mitotic spindle elongation cytoplasm|nucleus|spindle microtubule|spindle pole protein binding endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2) 25 Lung NSC(78;0.0987)|all_lung(78;0.175) CCCATTGTTCTGCCACATACT 0.433000 33 4648 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962726 69962726 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:69962726T>C ENST00000305231.7 + 1 534 c.488T>C c.(487-489)cTa>cCa p.L163P UGT2B7_ENST00000508661.1_Missense_Mutation_p.L163P|UGT2B7_ENST00000509763.1_Intron NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 163 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 CTGGCTGAGCTATTTAACATA 0.383000 36 351 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26809327 26809327 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:26809327G>T ENST00000381340.3 - 19 2763 c.2347C>A c.(2347-2349)Ctc>Atc p.L783I NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 783 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TGCATGTGGAGCATGAGGCGA 0.552000 10 361 9.70103e-10 1.24066e-09 1 1 0 GCLC 2729 broad.mit.edu 37 6 53364920 53364920 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:53364920A>G ENST00000229416.6 - 15 2108 c.1625T>C c.(1624-1626)cTt>cCt p.L542P NM_001197115.1|NM_001498.3 NP_001184044.1|NP_001489.1 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 542 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) CATGTTTTCAAGGTAAGAGTT 0.428000 5 436 0 0 1 0 0 C11orf53 341032 broad.mit.edu 37 11 111154999 111154999 + Missense_Mutation SNP G G A rs146857088 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:111154999G>A ENST00000280325.4 + 3 353 c.206G>A c.(205-207)cGg>cAg p.R69Q NM_198498.1 NP_940900.1 Q8IXP5 CK053_HUMAN chromosome 11 open reading frame 53 69 endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) GGAGACTACCGGCCTCCGGCG 0.692000 4 201 0 0 1 0 0 NSA2 10412 broad.mit.edu 37 5 74065165 74065165 + Silent SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:74065165T>A ENST00000296802.5 + 3 687 c.318T>A c.(316-318)atT>atA p.I106I NSA2_ENST00000513356.1_3'UTR NM_014886.3 NP_055701.1 O95478 NSA2_HUMAN NSA2 ribosome biogenesis homolog (S. cerevisiae) 106 Lys-rich. rRNA processing nucleolus|ribonucleoprotein complex breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1) 7 CCAATATGATTAAACAGAAAA 0.373000 8 439 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38595825 38595825 + Nonsense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:38595825G>T ENST00000413689.1 - 27 4951 c.4758C>A c.(4756-4758)taC>taA p.Y1586* SCN5A_ENST00000333535.4_Nonsense_Mutation_p.Y1586*|SCN5A_ENST00000464652.1_5'UTR|SCN5A_ENST00000425664.1_Nonsense_Mutation_p.Y1568*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.Y1585*|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.Y1585*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.Y1532*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.Y1568* NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1586 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) TGTTGGTGAAGTAGTAGTGGC 0.532000 50 425 7.34454e-26 1.02703e-25 1 1 0 CLEC12B 387837 broad.mit.edu 37 12 10168295 10168295 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:10168295T>C ENST00000396502.1 + 5 777 c.649T>C c.(649-651)Tgg>Cgg p.W217R RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Missense_Mutation_p.W217R NM_205852.2 NP_995324.2 Q2HXU8 CL12B_HUMAN C-type lectin domain family 12, member B 217 C-type lectin. integral to membrane|plasma membrane receptor activity|sugar binding central_nervous_system(2)|large_intestine(2)|lung(5) 9 AAGTTGGTTCTGGGAAGATGG 0.418000 4 261 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24881964 24881964 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:24881964A>G ENST00000313367.2 - 13 1786 c.1335T>C c.(1333-1335)acT>acC p.T445T OSBPL3_ENST00000396431.1_Silent_p.T414T|OSBPL3_ENST00000352860.1_Silent_p.T414T|OSBPL3_ENST00000353930.1_Silent_p.T409T|OSBPL3_ENST00000431825.2_Silent_p.T378T|OSBPL3_ENST00000409069.1_Silent_p.T378T|OSBPL3_ENST00000396429.1_Silent_p.T409T NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 445 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 AAAGGGAGTCAGTGATGGAGA 0.383000 9 662 0 0 1 0 0 KAZALD1 81621 broad.mit.edu 37 10 102824601 102824601 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:102824601G>A ENST00000370200.5 + 5 1165 c.839G>A c.(838-840)gGc>gAc p.G280D NM_030929.4 NP_112191.2 Q96I82 KAZD1_HUMAN Kazal-type serine peptidase inhibitor domain 1 280 cell differentiation|multicellular organismal development|ossification|regulation of cell growth insulin-like growth factor binding p.G280D(1) endometrium(1)|ovary(1)|prostate(2) 4 Epithelial(162;6.21e-09)|all cancers(201;3.14e-07) AACTCTACAGGCATCCCCCAG 0.557000 5 626 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139369159 139369159 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:139369159G>A ENST00000313050.7 - 1 2982 c.2909C>T c.(2908-2910)gCa>gTa p.A970V SEC16A_ENST00000290037.6_Missense_Mutation_p.A792V|SEC16A_ENST00000431893.2_Missense_Mutation_p.A792V|SEC16A_ENST00000371706.3_Missense_Mutation_p.A792V NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 792 Pro-rich.|Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GGTGCCGTGTGCAGGTGGAAC 0.493000 19 17 0 0 1 0 0 TADA1 117143 broad.mit.edu 37 1 166829540 166829540 + Nonsense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:166829540G>T ENST00000367874.4 - 6 668 c.575C>A c.(574-576)tCa>tAa p.S192* TADA1_ENST00000467021.1_5'UTR NM_053053.3 NP_444281.1 Q96BN2 TADA1_HUMAN transcriptional adaptor 1 192 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1) 11 TTTCCTTCTTGACACAACTGA 0.368000 12 92 2.61681e-11 3.41528e-11 1 1 0 FDX1 2230 broad.mit.edu 37 11 110327646 110327646 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:110327646A>G ENST00000260270.2 + 3 553 c.315A>G c.(313-315)gcA>gcG p.A105A NM_004109.4 NP_004100.1 P10109 ADX_HUMAN ferredoxin 1 105 2Fe-2S ferredoxin-type. electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding lung(2) 2 all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228) Mitotane(DB00648) TGTCAGGTGCATGTGAGGGAA 0.418000 6 349 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028864 37028864 + Missense_Mutation SNP G G T rs147158965 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:37028864G>T ENST00000358047.3 + 1 2433 c.2381G>T c.(2380-2382)cGt>cTt p.R794L NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 794 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 CCCAAGACTCGTCGAGTGTCC 0.622000 6 64 3.35478e-16 4.55355e-16 1 1 0 SLC7A9 11136 broad.mit.edu 37 19 33355682 33355682 + Splice_Site SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:33355682G>A ENST00000023064.4 - 3 279 c.87_splice c.e3-1 p.L30_splice SLC7A9_ENST00000590341.1_Splice_Site_p.L30_splice|SLC7A9_ENST00000587772.1_Splice_Site_p.L30_splice NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 30 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) ATGAGGCCCAGCTGGGTGTGG 0.647000 6 286 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113532655 113532655 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:113532655A>G ENST00000257600.3 + 6 1792 c.1289A>G c.(1288-1290)cAc>cGc p.H430R DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 430 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GTGCTTCGGCACAAGGGCGTG 0.652000 8 137 0 0 1 0 0 PSPC1 55269 broad.mit.edu 37 13 20346399 20346399 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr13:20346399C>A ENST00000338910.4 - 2 816 c.657G>T c.(655-657)ggG>ggT p.G219G NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 219 RRM 2.|Sufficient for paraspeckles localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) GCAAGAATGCCCCATCACCAC 0.423000 75 616 6.5209e-17 8.8747e-17 1 1 0 ITGAM 3684 broad.mit.edu 37 16 31282301 31282301 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:31282301G>A ENST00000544665.3 + 6 525 c.454G>A c.(454-456)Gcc>Acc p.A152T ITGAM_ENST00000287497.8_Missense_Mutation_p.A152T NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 152 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 TAGTGACATTGCCTTCTTGAT 0.438000 19 1180 0 0 1 0 0 LIX1 167410 broad.mit.edu 37 5 96460276 96460276 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:96460276G>T ENST00000274382.4 - 2 435 c.140C>A c.(139-141)gCa>gAa p.A47E CTD-2215E18.1_ENST00000509481.1_Intron NM_153234.4 NP_694966.3 Q8N485 LIX1_HUMAN Lix1 homolog (chicken) 47 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1) 10 all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.0733) ACTTGGGAATGCAGCCTTCTG 0.488000 10 270 1.33987e-11 1.75772e-11 1 1 0 MYO7B 4648 broad.mit.edu 37 2 128367240 128367240 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:128367240C>T ENST00000389524.4 + 23 3027 c.2974C>T c.(2974-2976)Cgg>Tgg p.R992W MYO7B_ENST00000409816.2_Missense_Mutation_p.R992W|MYO7B_ENST00000428314.1_Missense_Mutation_p.R992W Q6PIF6 MYO7B_HUMAN myosin VIIB 992 MyTH4 1. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) ACACATCCGGCGGCCCCTCCG 0.587000 3 54 0 0 1 0 0 C12orf4 57102 broad.mit.edu 37 12 4628042 4628042 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:4628042C>A ENST00000261250.3 - 7 820 c.733G>T c.(733-735)Gaa>Taa p.E245* C12orf4_ENST00000545746.1_Nonsense_Mutation_p.E245* NM_020374.2 NP_065107.1 Q9NQ89 CL004_HUMAN chromosome 12 open reading frame 4 245 E -> G (in Ref. 2; CAE46058). NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) ACTTTAATTTCCTCACTAAAA 0.299000 9 35 0.335167 0.337822 1 1 0 GUF1 60558 broad.mit.edu 37 4 44696433 44696433 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:44696433G>T ENST00000281543.5 + 14 1812 c.1618G>T c.(1618-1620)Gat>Tat p.D540Y GUF1_ENST00000506793.1_3'UTR NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 540 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 TTTTAGTTTTGATTACGAAGA 0.343000 4 44 2.56e-06 3.07321e-06 1 1 0 YTHDF2 51441 broad.mit.edu 37 1 29069235 29069235 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:29069235C>G ENST00000373812.3 + 4 815 c.453C>G c.(451-453)agC>agG p.S151R YTHDF2_ENST00000542507.1_Missense_Mutation_p.S151R|YTHDF2_ENST00000541996.1_Missense_Mutation_p.S101R|YTHDF2_ENST00000478283.1_3'UTR NM_016258.2 NP_057342.2 Q9Y5A9 YTHD2_HUMAN YTH domain family, member 2 151 humoral immune response NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) GATATAGTAGCAATTATGCTT 0.448000 203 129 0 0 1 0 0 PRTFDC1 56952 broad.mit.edu 37 10 25138782 25138782 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:25138782A>G ENST00000320152.6 - 9 697 c.669T>C c.(667-669)taT>taC p.Y223Y PRTFDC1_ENST00000376378.1_3'UTR NM_020200.5 NP_064585.1 Q9NRG1 PRDC1_HUMAN phosphoribosyl transferase domain containing 1 223 adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 TTTAGACTCGATATTTTTCTT 0.398000 4 335 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171394541 171394541 + Nonsense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:171394541C>T ENST00000342215.6 - 16 1866 c.1751G>A c.(1750-1752)tGg>tAg p.W584* PLD1_ENST00000356327.5_Silent_p.V655V|PLD1_ENST00000351298.4_Silent_p.V693V|PLD1_ENST00000340989.4_Silent_p.V693V Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 0 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) AGTGACGTGCCACATCACGAG 0.542000 53 512 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154379738 154379738 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:154379738C>T ENST00000406326.1 + 6 1409 c.1006C>T c.(1006-1008)Ccg>Tcg p.P336S DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron P42658 DPP6_HUMAN dipeptidyl-peptidase 6 0 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TCTGCTCACCCCGGGGATAAT 0.592000 6 951 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113169185 113169185 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:113169185G>A ENST00000295872.4 - 15 2580 c.2321C>T c.(2320-2322)aCt>aTt p.T774I NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 774 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 TGACCAACCAGTCCATGCTCT 0.373000 4 128 0 0 1 0 0 OR52N5 390075 broad.mit.edu 37 11 5799370 5799370 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:5799370C>A ENST00000317093.2 - 1 527 c.495G>T c.(493-495)atG>atT p.M165I TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) GGAAAGGAATCATCAGCAATA 0.463000 5 347 0.0215528 0.022713 1 1 0 STAT6 6778 broad.mit.edu 37 12 57500503 57500503 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:57500503G>T ENST00000300134.3 - 5 776 c.451C>A c.(451-453)Ctg>Atg p.L151M STAT6_ENST00000543873.2_Missense_Mutation_p.L151M|STAT6_ENST00000538913.2_Missense_Mutation_p.L41M|STAT6_ENST00000537215.2_Missense_Mutation_p.L41M|STAT6_ENST00000556155.1_Missense_Mutation_p.L151M|STAT6_ENST00000454075.3_Missense_Mutation_p.L151M NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced 151 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 CCCTTCTGCAGGGCTTCTCGG 0.577000 38 386 1.69475e-38 2.45065e-38 1 1 0 ZNF17 7565 broad.mit.edu 37 19 57932141 57932141 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:57932141C>T ENST00000307658.7 + 4 1550 c.1287C>T c.(1285-1287)tcC>tcT p.S429S ZNF17_ENST00000601808.1_Silent_p.S427S|AC004076.7_ENST00000597410.1_Intron P17021 ZNF17_HUMAN zinc finger protein 17 427 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) TGGACACTTCCACACTCATTA 0.383000 4 165 0 0 1 0 0 TANGO6 79613 broad.mit.edu 37 16 68961602 68961602 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:68961602C>A ENST00000261778.1 + 13 2271 c.2259C>A c.(2257-2259)gcC>gcA p.A753A RP11-521L9.1_ENST00000562790.1_lincRNA NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) CCCATGGAGCCTTTGCCACTG 0.493000 62 351 9.12251e-31 1.29703e-30 1 1 0 OR8U1 219417 broad.mit.edu 37 11 56143231 56143231 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:56143231T>C ENST00000302270.1 + 1 132 c.132T>C c.(130-132)ggT>ggC p.G44G NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) GCAACTTGGGTTTGATCCTAC 0.423000 5 730 0 0 1 0 0 CPA5 93979 broad.mit.edu 37 7 130008311 130008311 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:130008311G>A ENST00000485477.1 + 12 2313 c.1184G>A c.(1183-1185)aGc>aAc p.S395N CPA5_ENST00000355388.3_Missense_Mutation_p.S395N|CPA5_ENST00000461828.1_Missense_Mutation_p.S395N|CPA5_ENST00000393213.3_Missense_Mutation_p.S395N|CPA5_ENST00000431780.2_Missense_Mutation_p.A367T|CPA5_ENST00000466363.2_Missense_Mutation_p.S395N|CPA5_ENST00000474905.1_Missense_Mutation_p.S395N Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 395 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) TACGCCTTCAGCTTTGAGCTC 0.567000 17 151 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089937 9089937 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:9089937T>C ENST00000397910.4 - 1 2081 c.1878A>G c.(1876-1878)ctA>ctG p.L626L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 626 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 CTCTGGTGAGTAGGTGGGTTG 0.577000 6 318 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109688351 109688351 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:109688351G>T ENST00000277225.5 + 3 2447 c.2158G>T c.(2158-2160)Gtt>Ttt p.V720F ZNF462_ENST00000457913.1_Missense_Mutation_p.V720F Q96JM2 ZN462_HUMAN zinc finger protein 462 720 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 AGTGATCAATGTTGAGGATGA 0.463000 53 558 2.78941e-39 4.04504e-39 1 1 0 TG 7038 broad.mit.edu 37 8 133923676 133923676 + Nonsense_Mutation SNP C C T rs114157534 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:133923676C>T ENST00000220616.4 + 19 4097 c.4057C>T c.(4057-4059)Cag>Tag p.Q1353* TG_ENST00000377869.1_Nonsense_Mutation_p.Q1353* NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1353 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CTCCTCTGTGCAGGTGGGTTG 0.478000 5 584 0 0 1 0 0 WDR5B 54554 broad.mit.edu 37 3 122133439 122133439 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:122133439C>T ENST00000330689.4 - 1 1443 c.937G>A c.(937-939)Gca>Aca p.A313T NM_019069.3 NP_061942.2 Q86VZ2 WDR5B_HUMAN WD repeat domain 5B 313 kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.0704) GCTGCTGATGCGATGAGGTTT 0.383000 7 288 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182295 57182295 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:57182295G>T ENST00000504228.1 + 6 2732 c.2627G>T c.(2626-2628)gGa>gTa p.G876V KIAA1211_ENST00000541073.1_Missense_Mutation_p.G869V|KIAA1211_ENST00000264229.6_Missense_Mutation_p.G876V Q6ZU35 K1211_HUMAN KIAA1211 876 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) AGCAGCACCGGAGACAGCGCG 0.572000 5 46 3.59834e-05 4.14379e-05 1 1 0 ATG13 9776 broad.mit.edu 37 11 46690111 46690111 + Missense_Mutation SNP G G C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:46690111G>C ENST00000434074.1 + 14 1904 c.1215G>C c.(1213-1215)gaG>gaC p.E405D ATG13_ENST00000451945.1_Missense_Mutation_p.E368D|ATG13_ENST00000524625.1_Missense_Mutation_p.E368D|ATG13_ENST00000530500.1_Missense_Mutation_p.E289D|ATG13_ENST00000529655.1_Missense_Mutation_p.E368D|ATG13_ENST00000526508.1_Missense_Mutation_p.E405D|ATG13_ENST00000528494.1_Missense_Mutation_p.E438D|ATG13_ENST00000312040.4_Missense_Mutation_p.E405D|ATG13_ENST00000359513.4_Missense_Mutation_p.E405D NM_001205120.1 NP_001192049.1 O75143 ATG13_HUMAN autophagy related 13 405 autophagic vacuole assembly cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 15 TGGAGCTGGAGGATACCGATC 0.517000 122 93 0 0 1 0 0 KIF23 9493 broad.mit.edu 37 15 69733351 69733351 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:69733351C>A ENST00000260363.4 + 18 2429 c.2312C>A c.(2311-2313)aCt>aAt p.T771N KIF23_ENST00000558585.1_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.T771N|KIF23_ENST00000537891.1_Intron|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000352331.4_Intron NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 771 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 ATGTACTGGACTGAAGGCAGG 0.468000 12 477 1.62849e-17 2.22226e-17 1 1 0 A2M 2 broad.mit.edu 37 12 9224978 9224978 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:9224978G>T ENST00000318602.7 - 31 4387 c.4080C>A c.(4078-4080)agC>agA p.S1360R NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 1360 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) AGATTTGGAAGCTGGTGTGGG 0.438000 10 446 5.50884e-06 6.58215e-06 1 1 0 SIRPB2 284759 broad.mit.edu 37 20 1460483 1460483 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:1460483G>A ENST00000359801.3 - 2 349 c.313C>T c.(313-315)Cca>Tca p.P105S SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000537284.1_Intron NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 105 Ig-like V-type 1. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 CAATTCAGTGGTTCTGATGTC 0.453000 5 423 0 0 1 0 0 CEP104 9731 broad.mit.edu 37 1 3756191 3756191 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:3756191G>A ENST00000378230.3 - 7 1040 c.716C>T c.(715-717)gCc>gTc p.A239V NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 239 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 ATCAGCAATGGCTTGTTTTAG 0.353000 5 222 0 0 1 0 0 PDE4D 5144 broad.mit.edu 37 5 59064302 59064302 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:59064302C>G ENST00000507116.1 - 1 169 c.34G>C c.(34-36)Gta>Cta p.V12L PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.V12L|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000340635.6_Intron NM_001197218.1 NP_001184147.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 0 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) ACTTCAGGTACTGTTAAAGTG 0.517000 4 311 0 0 1 0 0 NAB2 4665 broad.mit.edu 37 12 57484919 57484919 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:57484919G>A ENST00000300131.3 + 2 473 c.95G>A c.(94-96)cGa>cAa p.R32Q NAB2_ENST00000357680.4_Missense_Mutation_p.R32Q|NAB2_ENST00000342556.6_Missense_Mutation_p.R32Q|NAB2_ENST00000554718.1_Intron NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 32 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 CCCAGTGCCCGAGCCATGGCA 0.607000 3 73 0 0 1 0 0 RAB39B 116442 broad.mit.edu 37 X 154490408 154490408 + Missense_Mutation SNP T T G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:154490408T>G ENST00000369454.3 - 2 622 c.322A>C c.(322-324)Aaa>Caa p.K108Q NM_171998.2 NP_741995.1 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 108 protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12) 19 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACGTGTACTTTGGTCTCTTCT 0.493000 4 305 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150916465 150916465 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:150916465G>A ENST00000368963.1 + 7 848 c.743G>A c.(742-744)gGc>gAc p.248_248insD SETDB1_ENST00000368962.2_Silent_p.R315R|SETDB1_ENST00000368969.4_Silent_p.R315R|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000271640.5_Silent_p.R315R Q15047 SETB1_HUMAN SET domain, bifurcated 1 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) CCATTTGCCGGCCACGTGAGT 0.413000 4 111 0 0 1 0 0 TRPC4AP 26133 broad.mit.edu 37 20 33590973 33590973 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:33590973T>C ENST00000252015.2 - 19 2459 c.2370A>G c.(2368-2370)atA>atG p.I790M TRPC4AP_ENST00000539834.1_Missense_Mutation_p.I392M|TRPC4AP_ENST00000451813.1_Missense_Mutation_p.I782M|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.I751M Q8TEL6 TP4AP_HUMAN transient receptor potential cation channel, subfamily C, member 4 associated protein 790 protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(18;0.00936) AGTCCCTGTCTATGTCCATGT 0.597000 3 117 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11701058 11701058 + Nonsense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:11701058G>T ENST00000262442.3 + 43 8436 c.8368G>T c.(8368-8370)Gaa>Taa p.E2790* DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E2790* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2790 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GAACCACAATGAAGTCAACAC 0.483000 6 202 1.06961e-07 1.31824e-07 1 1 0 DCDC1 341019 broad.mit.edu 37 11 30974117 30974117 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:30974117T>A ENST00000597505.1 - 19 2591 c.e19-2 DCDC1_ENST00000437348.1_Intron|DCDC1_ENST00000406071.2_Splice_Site|DCDC1_ENST00000339794.5_Splice_Site P59894 DCDC1_HUMAN doublecortin domain containing 1 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) ATGGCCCACCTAAAACAAAAG 0.333000 3 15 0 0 1 0 0 HOOK2 29911 broad.mit.edu 37 19 12883471 12883471 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:12883471G>A ENST00000264827.5 - 6 582 c.412C>T c.(412-414)Ctg>Ttg p.L138L HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Silent_p.L138L NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 138 Required for localization to the centrosome and induction of aggresome formation.|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 centrosome|FHF complex|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 GATTCTTCCAGCGTCATGATT 0.572000 5 742 0 0 1 0 0 RBM43 375287 broad.mit.edu 37 2 152112258 152112258 + Splice_Site SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:152112258C>A ENST00000331426.5 - 2 155 c.e2-1 NM_198557.2 NP_940959.1 Q6ZSC3 RBM43_HUMAN RNA binding motif protein 43 nucleotide binding|RNA binding endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.131) AAACTGATGCCTGTAAGAGAA 0.358000 6 58 0.0215528 0.022713 1 1 0 TSR1 55720 broad.mit.edu 37 17 2227510 2227510 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:2227510G>A ENST00000301364.4 - 15 3474 c.2395C>T c.(2395-2397)Cct>Tct p.P799S SRR_ENST00000344595.5_3'UTR NM_018128.4 NP_060598.3 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 799 ribosome assembly nucleolus protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 CCCCCTTGAGGCACTGTTGAA 0.463000 5 822 0 0 1 0 0 IGKV1OR2-118 339562 broad.mit.edu 37 2 90458628 90458628 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:90458628G>T ENST00000603238.1 + 2 304 c.304G>T c.(304-306)Gat>Tat p.102_102insY GCAGCCTGAAGATTTTGCAAC 0.507000 10 1062 0.000219431 0.000249309 1 1 0 ETV4 2118 broad.mit.edu 37 17 41606987 41606987 + Missense_Mutation SNP C C T rs148198572 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:41606987C>T ENST00000319349.5 - 11 1311 c.1013G>A c.(1012-1014)cGg>cAg p.R338Q ETV4_ENST00000545954.1_Missense_Mutation_p.R299Q|ETV4_ENST00000591713.1_Missense_Mutation_p.R338Q|ETV4_ENST00000545089.1_Missense_Mutation_p.R284Q|ETV4_ENST00000586826.1_Missense_Mutation_p.R61Q|ETV4_ENST00000393664.2_Missense_Mutation_p.R338Q|ETV4_ENST00000538265.1_Missense_Mutation_p.R299Q NM_001079675.2 NP_001073143.1 P43268 ETV4_HUMAN ets variant 4 338 positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2) ovary(2)|upper_aerodigestive_tract(1) 3 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) CAGGGCACCCCGGCGCTGGTA 0.582000 T """EWSR1, TMPRSS2, DDX5, KLK2, CANT1""" """Ewing sarcoma, Prostate carcinoma""" 3 60 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43579536 43579536 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:43579536G>A ENST00000406487.1 - 3 777 c.679C>T c.(679-681)Cgc>Tgc p.R227C NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 227 Ig-like C2-type 1. cell migration|female pregnancy extracellular region p.R227C(1) 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) GGGTCACTGCGGCTGGCACTC 0.527000 8 427 0 0 1 0 0 KIAA1143 57456 broad.mit.edu 37 3 44794950 44794950 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:44794950T>C ENST00000296121.4 - 3 407 c.348A>G c.(346-348)tcA>tcG p.S116S KIAA1143_ENST00000484437.1_5'UTR NM_020696.3 NP_065747.1 Q96AT1 K1143_HUMAN KIAA1143 116 NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582) TCTTCTTTTTTGAGCTTGCTG 0.373000 4 143 0 0 1 0 0 GPN2 54707 broad.mit.edu 37 1 27215502 27215502 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:27215502G>T ENST00000374135.4 - 2 726 c.526C>A c.(526-528)Ctc>Atc p.L176I NM_018066.3 NP_060536.3 Q9H9Y4 GPN2_HUMAN GPN-loop GTPase 2 176 GTP binding endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 TTGGAAAGGAGGTTGATGTGG 0.537000 4 276 1.23904e-05 1.45652e-05 1 1 0 DPT 1805 broad.mit.edu 37 1 168698204 168698204 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:168698204T>C ENST00000367817.3 - 1 298 c.209A>G c.(208-210)gAc>gGc p.D70G NM_001937.4 NP_001928.2 Q07507 DERM_HUMAN dermatopontin 70 2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY]. cell adhesion extracellular space|proteinaceous extracellular matrix kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2) 12 all_hematologic(923;0.208) CCATTGTCTGTCAGAACCTTC 0.582000 4 90 0 0 1 0 0 DLC1 10395 broad.mit.edu 37 8 13251191 13251191 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:13251191T>C ENST00000276297.4 - 4 1594 c.1185A>G c.(1183-1185)tcA>tcG p.S395S DLC1_ENST00000316609.5_Silent_p.S395S|DLC1_ENST00000511869.1_Silent_p.S395S NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 395 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TTTCAGATCCTGATTCCAGAT 0.428000 8 310 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678590 100678590 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:100678590T>C ENST00000306151.4 + 3 3957 c.3893T>C c.(3892-3894)cTt>cCt p.L1298P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1298 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) GCTAGCACCCTTTTAACAACT 0.478000 4 174 0 0 1 0 0 TBC1D20 128637 broad.mit.edu 37 20 419442 419442 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:419442G>T ENST00000354200.4 - 8 1147 c.1000C>A c.(1000-1002)Cag>Aag p.Q334K TBC1D20_ENST00000461188.1_5'UTR NM_144628.2 NP_653229.1 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 334 interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(17;0.228)|Breast(17;0.231) GGCCTCTGCTGGGCTGATGCC 0.547000 6 105 0.000157383 0.000179615 1 1 0 SCN1A 6323 broad.mit.edu 37 2 166900434 166900434 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:166900434G>T ENST00000423058.2 - 11 1805 c.1788C>A c.(1786-1788)agC>agA p.S596R AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.S596R|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.S596R|SCN1A_ENST00000409050.1_Missense_Mutation_p.S596R|AC010127.3_ENST00000599041.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 596 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) CCTCAAAGGTGCTGTGCTCAT 0.507000 54 417 1.27862e-28 1.80282e-28 1 1 0 MMP2 4313 broad.mit.edu 37 16 55527162 55527162 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:55527162G>A ENST00000219070.4 + 9 1938 c.1429G>A c.(1429-1431)Ggc>Agc p.G477S MMP2_ENST00000543485.1_Missense_Mutation_p.G401S|MMP2_ENST00000570308.1_Missense_Mutation_p.G401S|MMP2_ENST00000437642.2_Missense_Mutation_p.G427S NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 477 Hemopexin-like 1.|Required for inhibitor TIMP2 binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) TGTATTTGATGGCATCGCTCA 0.567000 7 490 0 0 1 0 0 PARP3 10039 broad.mit.edu 37 3 51980200 51980200 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:51980200C>T ENST00000417220.2 + 10 1605 c.1117C>T c.(1117-1119)Cac>Tac p.H373Y PARP3_ENST00000398755.3_Missense_Mutation_p.H380Y|PARP3_ENST00000431474.1_Missense_Mutation_p.H373Y Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 373 PARP catalytic. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) ATTCCAGGCCCACTCCAAACT 0.587000 14 142 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91131958 91131958 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:91131958C>A ENST00000373094.1 + 2 1564 c.719C>A c.(718-720)aCt>aAt p.T240N PCDH11X_ENST00000373088.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T240N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T240N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T240N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T240N NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 240 Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GTGAGTGTTACTGATACAAAT 0.428000 4 164 0.00909568 0.0097673 1 1 0 PRDM9 56979 broad.mit.edu 37 5 23509581 23509581 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:23509581C>A ENST00000296682.3 + 3 254 c.72C>A c.(70-72)gtC>gtA p.V24V NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 24 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 TCCTCTAGGTCAAAGATGCCT 0.453000 HNSCC(3;0.000094) 5 770 0.27861 0.281934 1 1 0 PEX7 5191 broad.mit.edu 37 6 137191043 137191043 + Missense_Mutation SNP G G A rs121909152 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:137191043G>A ENST00000541292.1 + 7 735 c.649G>A c.(649-651)Ggg>Agg p.G217R PEX7_ENST00000318471.4_Missense_Mutation_p.G217R O00628 PEX7_HUMAN peroxisomal biogenesis factor 7 217 G -> R (in RCDP1; could be a polymorphism). ether lipid biosynthetic process|protein import into peroxisome matrix peroxisome peroxisome matrix targeting signal-2 binding p.G217W(1) lung(7)|prostate(1) 8 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492) GCTGGTGACCGGGGCGGTTGA 0.413000 6 170 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21901549 21901549 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:21901549A>G ENST00000328843.6 + 70 11333 c.11302A>G c.(11302-11304)Atg>Gtg p.M3768V DNAH11_ENST00000409508.3_Missense_Mutation_p.M3761V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3768 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 CTCTATCCTGATGGAGAGCAT 0.517000 Kartagener syndrome 7 456 0 0 1 0 0 ATE1 11101 broad.mit.edu 37 10 123503319 123503319 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:123503319G>A ENST00000369043.3 - 12 1519 c.1433C>T c.(1432-1434)gCc>gTc p.A478V ATE1_ENST00000543447.1_Missense_Mutation_p.A363V|ATE1_ENST00000540606.1_Missense_Mutation_p.A471V|ATE1_ENST00000369040.3_Missense_Mutation_p.A382V|ATE1_ENST00000535655.1_Missense_Mutation_p.A179V|ATE1_ENST00000224652.6_Missense_Mutation_p.A478V NM_007041.2 NP_008972.2 O95260 ATE1_HUMAN arginyltransferase 1 478 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) AGGCATGATGGCTCTCTTGTG 0.478000 4 421 0 0 1 0 0 ITGB7 3695 broad.mit.edu 37 12 53589220 53589220 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:53589220C>A ENST00000267082.5 - 9 1330 c.1099G>T c.(1099-1101)Gca>Tca p.A367S ITGB7_ENST00000338737.4_Missense_Mutation_p.A367S|ITGB7_ENST00000550743.2_Missense_Mutation_p.A367S|ITGB7_ENST00000422257.3_Missense_Mutation_p.A367S NM_000889.1 NP_000880.1 P26010 ITB7_HUMAN integrin, beta 7 367 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCCCCAACTGCAGACTTAGGA 0.542000 11 549 0.0931896 0.097001 1 1 0 PNPLA6 10908 broad.mit.edu 37 19 7619529 7619529 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:7619529C>T ENST00000221249.6 + 24 2871 c.2440C>T c.(2440-2442)Ccc>Tcc p.P814S PNPLA6_ENST00000414982.3_Missense_Mutation_p.P862S|PNPLA6_ENST00000450331.3_Missense_Mutation_p.P814S|PNPLA6_ENST00000600737.1_Missense_Mutation_p.P852S|PNPLA6_ENST00000545201.2_Missense_Mutation_p.P787S NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 853 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 CTCGCTGACGCCCTGGACCGT 0.667000 6 242 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74279236 74279236 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:74279236G>A ENST00000295897.4 + 8 1032 c.943G>A c.(943-945)Gcc>Acc p.A315T ALB_ENST00000401494.3_Missense_Mutation_p.A200T|ALB_ENST00000503124.1_Missense_Mutation_p.A165T|ALB_ENST00000509063.1_Missense_Mutation_p.A315T|ALB_ENST00000415165.2_Missense_Mutation_p.A123T|ALB_ENST00000505649.1_3'UTR NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 315 Albumin 2. 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 antioxidant activity|chaperone binding|copper ion binding|DNA 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) CCACTGCATTGCCGAAGTGGA 0.423000 7 182 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158324168 158324168 + Splice_Site SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:158324168T>C ENST00000368160.3 + 2 60 c.58_splice c.e2-1 p.A20_splice CD1E_ENST00000434258.1_Splice_Site_p.A18_splice|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368165.3_Splice_Site_p.A20_splice|CD1E_ENST00000368155.3_Splice_Site_p.A20_splice|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368156.1_Splice_Site_p.A20_splice|CD1E_ENST00000368163.3_Splice_Site_p.A20_splice|CD1E_ENST00000368161.3_Splice_Site_p.A20_splice|CD1E_ENST00000368167.3_Splice_Site_p.A20_splice|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 20 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) CTCTCTCAGCTCCCCAGGCTC 0.498000 7 538 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9028258 9028258 + Silent SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:9028258G>T ENST00000397910.4 - 11 36737 c.36534C>A c.(36532-36534)ccC>ccA p.P12178P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12180 SEA 1. 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 CCAGGGTGTAGGGGCCCAGCT 0.562000 7 984 0.00909568 0.0097673 1 1 0 MEFV 4210 broad.mit.edu 37 16 3304364 3304364 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:3304364G>A ENST00000219596.1 - 2 743 c.704C>T c.(703-705)tCg>tTg p.S235L MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron|MEFV_ENST00000339854.4_Intron NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 235 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CATCTTTCCCGAGGGCAGGTA 0.627000 12 1018 0 0 1 0 0 SMC2 10592 broad.mit.edu 37 9 106857698 106857698 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:106857698C>A ENST00000286398.7 + 2 321 c.33C>A c.(31-33)ttC>ttA p.F11L SMC2_ENST00000303219.8_Missense_Mutation_p.F11L|SMC2_ENST00000374787.3_Missense_Mutation_p.F11L|SMC2_ENST00000374793.3_Missense_Mutation_p.F11L NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 11 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 TAGAGGGATTCAAGTCCTATG 0.433000 4 171 0.014758 0.0156823 1 1 0 MBD4 8930 broad.mit.edu 37 3 129152054 129152054 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:129152054T>A ENST00000429544.2 - 6 1625 c.1430A>T c.(1429-1431)gAg>gTg p.E477V MBD4_ENST00000249910.1_Missense_Mutation_p.E483V|MBD4_ENST00000393278.2_Missense_Mutation_p.E165V|MBD4_ENST00000507208.1_Missense_Mutation_p.E483V|MBD4_ENST00000503197.1_Missense_Mutation_p.E483V NM_001276270.1 NP_001263199.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 483 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 AGGATACTTCTCCAGAAACTT 0.438000 Base excision repair (BER), DNA glycosylases 4 242 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24874328 24874328 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:24874328C>T ENST00000396432.2 - 26 5376 c.4890G>A c.(4888-4890)ggG>ggA p.G1630G NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1629 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 CCACAGGCCGCCCTTCACTGA 0.567000 11 482 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20089906 20089906 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:20089906G>A ENST00000396085.1 + 22 5306 c.4945G>A c.(4945-4947)Gag>Aag p.E1649K NAV2_ENST00000540292.1_Missense_Mutation_p.E1636K|NAV2_ENST00000311043.8_Missense_Mutation_p.E713K|NAV2_ENST00000349880.4_Missense_Mutation_p.E1649K|NAV2_ENST00000533917.1_Missense_Mutation_p.E713K|NAV2_ENST00000527559.2_Missense_Mutation_p.E1634K|NAV2_ENST00000360655.4_Missense_Mutation_p.E1585K|NAV2_ENST00000396087.3_Missense_Mutation_p.E1705K NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1705 Ser-rich. 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 TGCCTCCCAGGAGAAAGTTTC 0.522000 29 87 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7620562 7620562 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:7620562T>C ENST00000486284.1 + 8 2243 c.1969T>C c.(1969-1971)Ttc>Ctc p.F657L GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.F657L|GRM7_ENST00000403881.1_Missense_Mutation_p.F657L|GRM7_ENST00000402647.2_Missense_Mutation_p.F657L|GRM7_ENST00000357716.4_Missense_Mutation_p.F657L NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 657 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 adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|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) AGTGTGTTCTTTCCGGCGAGT 0.458000 4 193 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189349364 189349364 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:189349364G>A ENST00000264731.3 + 1 149 c.60G>A c.(58-60)caG>caA p.Q20Q TP63_ENST00000440651.2_Silent_p.Q20Q|TP63_ENST00000392460.3_Silent_p.Q20Q|TP63_ENST00000382063.4_Silent_p.Q20Q|TP63_ENST00000418709.2_Silent_p.Q20Q|TP63_ENST00000320472.5_Silent_p.Q20Q NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 20 Transcription activation. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CTTACATCCAGCGGTGAGTTT 0.403000 HNSCC(45;0.13) 6 326 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99693790 99693790 + Splice_Site SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:99693790C>G ENST00000303887.5 - 11 1847 c.1201_splice c.e11-1 p.S401_splice MCM7_ENST00000343023.6_Intron|MCM7_ENST00000354230.3_Splice_Site_p.S225_splice NM_005916.3 NP_005907.3 P33993 MCM7_HUMAN minichromosome maintenance complex component 7 401 MCM. cell cycle checkpoint|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|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) TGTGTACTGGCCTGGAAGAGA 0.562000 9 353 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106976771 106976771 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:106976771C>T ENST00000369701.3 + 19 2852 c.2625C>T c.(2623-2625)atC>atT p.I875I SORCS3_ENST00000369699.4_Silent_p.I161I NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 875 PKD. integral to membrane neuropeptide receptor activity p.I875I(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) TCAGCCCCATCGAGGACGGCA 0.532000 90 58 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627114 43627114 + Nonsense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:43627114G>A ENST00000332857.6 - 4 1601 c.1573C>T c.(1573-1575)Cag>Tag p.Q525* NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 ACTTTATTCTGCGATGCAGGG 0.502000 7 391 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 152870479 152870479 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:152870479G>T ENST00000285900.5 + 1 374 c.31G>T c.(31-33)Ggt>Tgt p.G11C GRIA1_ENST00000340592.5_Missense_Mutation_p.G11C|GRIA1_ENST00000518142.1_Missense_Mutation_p.G11C|GRIA1_ENST00000518862.1_Intron NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 11 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 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding 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) CTTCTGCACCGGTTTCCTAGG 0.527000 7 696 1.76689e-08 2.19353e-08 1 1 0 PLAG1 5324 broad.mit.edu 37 8 57079698 57079698 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:57079698G>A ENST00000316981.3 - 5 1086 c.607C>T c.(607-609)Cac>Tac p.H203Y PLAG1_ENST00000423799.2_Missense_Mutation_p.H121Y|PLAG1_ENST00000429357.2_Missense_Mutation_p.H203Y NM_001114634.1|NM_002655.2 NP_001108106.1|NP_002646.2 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 203 Decreased nuclear import with localization in the nucleus but also in the cytoplasm. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) ACCACCATGTGTCTCCGGACA 0.483000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 89 233 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167815053 167815053 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:167815053C>A ENST00000367848.1 - 21 2976 c.2479G>T c.(2479-2481)Gag>Tag p.E827* ADCY10_ENST00000545172.1_Nonsense_Mutation_p.E766*|ADCY10_ENST00000485964.1_5'UTR|ADCY10_ENST00000367851.4_Nonsense_Mutation_p.E919* Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 919 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TCGATCACCTCATTCTCCAGT 0.502000 21 153 1.37878e-21 1.89675e-21 1 1 0 RIMS1 22999 broad.mit.edu 37 6 72678723 72678723 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:72678723A>G ENST00000264839.7 + 2 202 c.202A>G c.(202-204)Aaa>Gaa p.K68E RIMS1_ENST00000520567.1_Missense_Mutation_p.K68E|RIMS1_ENST00000517960.1_Missense_Mutation_p.K68E|RIMS1_ENST00000348717.5_Missense_Mutation_p.K68E|RIMS1_ENST00000522291.1_Missense_Mutation_p.K68E|RIMS1_ENST00000518273.1_Missense_Mutation_p.K68E|RIMS1_ENST00000521978.1_Missense_Mutation_p.K68E|RIMS1_ENST00000491071.2_Missense_Mutation_p.K68E Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 68 RabBD. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) TGCTGCCTGCAAAACACCAAG 0.458000 7 276 0 0 1 0 0 RAD52 5893 broad.mit.edu 37 12 1042182 1042182 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:1042182G>T ENST00000358495.3 - 2 181 c.43C>A c.(43-45)Cat>Aat p.H15N RAD52_ENST00000536177.1_Missense_Mutation_p.H15N|RAD52_ENST00000541619.1_Missense_Mutation_p.H15N|RAD52_ENST00000539046.1_Intron|RAD52_ENST00000430095.2_Missense_Mutation_p.H15N|RAD52_ENST00000544742.1_Missense_Mutation_p.H15N|RAD52_ENST00000545564.1_Missense_Mutation_p.H15N NM_134424.2 NP_602296.2 P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) 15 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) GCAGCAGGATGGCTGTCACGT 0.458000 Homologous recombination 4 372 2.74318e-10 3.53488e-10 1 1 0 KLHL13 90293 broad.mit.edu 37 X 117043719 117043719 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:117043719G>T ENST00000371876.1 - 4 3179 c.758C>A c.(757-759)aCt>aAt p.T253N KLHL13_ENST00000371882.1_Missense_Mutation_p.T253N|KLHL13_ENST00000540167.1_Missense_Mutation_p.T288N|KLHL13_ENST00000371878.1_Missense_Mutation_p.T253N|KLHL13_ENST00000545703.1_Missense_Mutation_p.T262N|KLHL13_ENST00000469946.1_Missense_Mutation_p.T253N|KLHL13_ENST00000541812.1_Missense_Mutation_p.T288N|KLHL13_ENST00000262820.3_Missense_Mutation_p.T304N|KLHL13_ENST00000539496.1_Missense_Mutation_p.T307N Q9P2N7 KLH13_HUMAN kelch-like family member 13 304 BACK. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 AGTATTGTCAGTTCTCATGAA 0.418000 5 248 3.59834e-05 4.14379e-05 1 1 0 SIRPB2 284759 broad.mit.edu 37 20 1460378 1460378 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:1460378T>C ENST00000359801.3 - 2 454 c.418A>G c.(418-420)Aaa>Gaa p.K140E SIRPB2_ENST00000381630.1_Intron|SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000537284.1_Missense_Mutation_p.K2E NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 140 Ig-like V-type 1. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TCATCCGATTTCATTTCTGAG 0.473000 8 1043 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16409650 16409650 + Splice_Site SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:16409650C>A ENST00000354981.2 - 14 1580 c.e14-1 KIF16B_ENST00000355755.3_Splice_Site|KIF16B_ENST00000408042.1_Splice_Site|KIF16B_ENST00000378003.2_Splice_Site NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TCTGACCTTCCTGGGAAGAAA 0.393000 6 232 0.000274275 0.000308863 1 1 0 IL11RA 3590 broad.mit.edu 37 9 34660928 34660928 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:34660928G>A ENST00000555003.1 + 12 2603 c.1247G>A c.(1246-1248)cGt>cAt p.R416H IL11RA_ENST00000318041.9_Missense_Mutation_p.R416H|IL11RA_ENST00000441545.2_Missense_Mutation_p.R416H Q14626 I11RA_HUMAN interleukin 11 receptor, alpha 416 integral to plasma membrane cytokine receptor activity breast(1)|large_intestine(1)|ovary(1)|skin(1) 4 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.174) Oprelvekin(DB00038) GTGGACAGGCGTCCAGGTGAG 0.522000 4 195 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38835367 38835367 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:38835367C>T ENST00000449082.2 - 1 134 c.135G>A c.(133-135)aaG>aaA p.K45K NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 45 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) CTTCTTGGTCCTTCTGCTCCC 0.552000 5 259 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23902406 23902406 + Nonsense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:23902406G>A ENST00000355349.3 - 4 394 c.232C>T c.(232-234)Cag>Tag p.Q78* NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 78 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|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) GGGTTCTGCTGCATCACCTGG 0.587000 20 705 0 0 1 0 0 MIR518E 574487 broad.mit.edu 37 19 54233120 54233120 + RNA SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:54233120C>T ENST00000385252.1 + 0 29 NR_030209.1 TAGAGGGAAGCGCTTTCTGTT 0.428000 5 321 0 0 1 0 0 PTGR1 22949 broad.mit.edu 37 9 114341111 114341111 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:114341111C>A ENST00000407693.2 - 7 878 c.616G>T c.(616-618)Gcg>Tcg p.A206S PTGR1_ENST00000309195.5_Missense_Mutation_p.A206S|PTGR1_ENST00000238248.3_Missense_Mutation_p.A83S|PTGR1_ENST00000538962.1_Missense_Mutation_p.A206S NM_001146108.1 NP_001139580.1 Q14914 PTGR1_HUMAN prostaglandin reductase 1 206 leukotriene metabolic process cytoplasm 15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(3)|ovary(1) 11 TCAGGAGACGCTTTCTTCAAG 0.358000 5 78 0.00116845 0.00129573 1 1 0 PLCL1 5334 broad.mit.edu 37 2 198950684 198950684 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:198950684C>T ENST00000428675.1 + 2 2841 c.2443C>T c.(2443-2445)Cca>Tca p.P815S PLCL1_ENST00000437704.2_Missense_Mutation_p.P717S NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 815 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) ATATACGATACCATTTGAATG 0.438000 44 86 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133098622 133098622 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:133098622G>A ENST00000515826.1 + 3 190 c.67G>A c.(67-69)Gaa>Aaa p.E23K TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.E23K|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K Q6UXF1 TM108_HUMAN transmembrane protein 108 23 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GGCACTGACCGAAGCGCTGGC 0.552000 13 731 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502915 140502915 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:140502915C>T ENST00000194152.1 + 1 1335 c.1335C>T c.(1333-1335)gaC>gaT p.D445D NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 445 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACGTCAATGACAACGCCCCCG 0.597000 27 147 0 0 1 0 0 IFNB1 3456 broad.mit.edu 37 9 21077375 21077375 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:21077375G>A ENST00000380232.2 - 1 568 c.494C>T c.(493-495)aCc>aTc p.T165I NM_002176.2 NP_002167.1 P01574 IFNB_HUMAN interferon, beta 1, fibroblast 165 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 12 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) TCTGACTATGGTCCAGGCACA 0.468000 5 601 0 0 1 0 0 ITLN2 142683 broad.mit.edu 37 1 160917768 160917768 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:160917768G>T ENST00000368029.3 - 7 833 c.776C>A c.(775-777)gCc>gAc p.A259D ITLN2_ENST00000494442.1_5'UTR|RP11-544M22.1_ENST00000356006.3_RNA NM_080878.2 NP_543154.1 Q8WWU7 ITLN2_HUMAN intelectin 2 259 Fibrinogen C-terminal. signal transduction extracellular region receptor binding|sugar binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 19 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AAGGGCGTTGGCTGCTCTCTC 0.458000 7 60 5.4927e-09 6.92026e-09 1 1 0 LIN37 55957 broad.mit.edu 37 19 36245353 36245353 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:36245353G>A ENST00000301159.9 + 9 1083 c.719G>A c.(718-720)cGa>cAa p.R240Q AC002398.9_ENST00000591613.2_3'UTR NM_019104.2 NP_061977.1 Q96GY3 LIN37_HUMAN lin-37 homolog (C. elegans) 240 protein binding large_intestine(1)|lung(5) 6 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGATCCTACGAGAGATGTAC 0.587000 3 37 0 0 1 0 0 TEAD1 7003 broad.mit.edu 37 11 12902559 12902559 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:12902559C>T ENST00000361905.4 + 7 1093 c.428C>T c.(427-429)cCg>cTg p.P143L TEAD1_ENST00000527575.1_Missense_Mutation_p.P158L|TEAD1_ENST00000361985.2_Missense_Mutation_p.P158L|TEAD1_ENST00000334310.6_Missense_Mutation_p.P147L|TEAD1_ENST00000526600.1_Missense_Mutation_p.P62L|TEAD1_ENST00000527636.1_Missense_Mutation_p.P158L NM_021961.5 NP_068780.2 P28347 TEAD1_HUMAN TEA domain family member 1 (SV40 transcriptional enhancer factor) 158 Pro-rich. hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) CAGTTCTGGCCGGGAATGATT 0.527000 4 274 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238249767 238249767 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:238249767C>T ENST00000295550.4 - 38 8244 c.7792G>A c.(7792-7794)Gga>Aga p.G2598R COL6A3_ENST00000353578.4_Missense_Mutation_p.G2392R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2398R|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2392R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2397R|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1991R NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2598 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) CTGCCAAATCCACAGGATGGG 0.532000 11 119 0 0 1 0 0 EPB42 2038 broad.mit.edu 37 15 43494079 43494079 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:43494079G>T ENST00000300215.3 - 12 2423 c.1966C>A c.(1966-1968)Ctg>Atg p.L656M EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000540029.1_Missense_Mutation_p.L548M|EPB42_ENST00000441366.2_Missense_Mutation_p.L626M P16452 EPB42_HUMAN erythrocyte membrane protein band 4.2 626 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) CCCCTTCCCAGGATGGAGATC 0.552000 31 1223 7.88262e-20 1.08147e-19 1 1 0 IGFL2 147920 broad.mit.edu 37 19 46663969 46663969 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:46663969G>A ENST00000434646.2 + 4 496 c.205G>A c.(205-207)Gtg>Atg p.V69M IGFL2_ENST00000600243.1_3'UTR|IGFL2_ENST00000377693.4_Missense_Mutation_p.V58M|AC007193.6_ENST00000597989.1_lincRNA NM_001002915.2 NP_001002915.2 Q6UWQ7 IGFL2_HUMAN IGF-like family member 2 58 extracellular region protein binding cervix(1)|lung(5) 6 Ovarian(192;0.0908)|all_neural(266;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247) TGACGCCATCGTGTCCCTGAG 0.577000 4 518 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152749365 152749365 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:152749365C>T ENST00000367255.5 - 37 5552 c.4951G>A c.(4951-4953)Gag>Aag p.E1651K SYNE1_ENST00000448038.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1721K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1651K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1651 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGCAGATTCTCCAGCGCCGTC 0.512000 HNSCC(10;0.0054) 5 231 0 0 1 0 0 SLC25A38 54977 broad.mit.edu 37 3 39432934 39432934 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:39432934C>A ENST00000273158.4 + 4 656 c.279C>A c.(277-279)tcC>tcA p.S93S NM_017875.2 NP_060345.2 Q96DW6 S2538_HUMAN solute carrier family 25, member 38 93 erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CTCTGCAGTCCATTGTGAGAT 0.468000 17 561 5.35267e-07 6.53359e-07 1 1 0 NDN 4692 broad.mit.edu 37 15 23931741 23931741 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:23931741G>T ENST00000331837.4 - 1 709 c.624C>A c.(622-624)agC>agA p.S208R NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 208 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TCCAGACGGCGCTCTCTCTGG 0.637000 Prader-Willi syndrome 9 98 2.27111e-07 2.78553e-07 1 1 0 FLG2 388698 broad.mit.edu 37 1 152324175 152324175 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:152324175G>A ENST00000388718.5 - 3 6159 c.6087C>T c.(6085-6087)ggC>ggT p.G2029G FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2029 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) ACTCACTGTGGCCAGATGCCC 0.537000 16 506 0 0 1 0 0 CPSF3 51692 broad.mit.edu 37 2 9580692 9580692 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:9580692G>A ENST00000460593.1 + 8 1860 c.722G>A c.(721-723)tGt>tAt p.C241Y CPSF3_ENST00000238112.3_Missense_Mutation_p.C278Y Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa 278 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) GCCAAGAAGTGTATGGCAGTG 0.373000 4 97 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98409923 98409923 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:98409923G>T ENST00000186436.5 - 30 3708 c.3480C>A c.(3478-3480)aaC>aaA p.N1160K NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1160 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 CGAAGGGCGGGTTCGAGGCCT 0.473000 9 44 1.58986e-06 1.92219e-06 1 1 0 MCM2 4171 broad.mit.edu 37 3 127327298 127327298 + Missense_Mutation SNP G G A rs144869999 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:127327298G>A ENST00000265056.7 + 7 1419 c.1175G>A c.(1174-1176)cGc>cAc p.R392H NM_004526.2 NP_004517.2 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 392 cell cycle checkpoint|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 chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 CGGCTGCCCCGCTCCAAGGAC 0.607000 6 489 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55178153 55178153 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:55178153G>A ENST00000391736.1 + 12 1309 c.994G>A c.(994-996)Gcc>Acc p.A332T LILRB4_ENST00000391733.3_Missense_Mutation_p.A333T|LILRB4_ENST00000270452.2_Missense_Mutation_p.A332T|LILRB4_ENST00000391734.3_Missense_Mutation_p.A332T|LILRB4_ENST00000430952.2_Missense_Mutation_p.A332T NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 332 integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) AGCAGGTGCTGCCGTGAAGAA 0.612000 5 475 0 0 1 0 0 OR10AD1 121275 broad.mit.edu 37 12 48596443 48596443 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:48596443G>A ENST00000310248.2 - 1 727 c.633C>T c.(631-633)ccC>ccT p.P211P NM_001004134.1 NP_001004134.1 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, member 1 211 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 TGAGCACCATGGGGCTGAGAA 0.547000 6 358 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106130 55106130 + Splice_Site SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:55106130G>A ENST00000453777.1 + 4 241 c.70_splice c.e4-1 p.G24_splice LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Splice_Site_p.G24_splice|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 24 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity p.G24E(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TTCCTTCCAGGGACCCTCCCC 0.587000 18 25 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70530595 70530595 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:70530595C>A ENST00000357887.3 - 3 2589 c.1836G>T c.(1834-1836)aaG>aaT p.K612N SLC8A3_ENST00000534137.1_Intron|SLC8A3_ENST00000528359.1_Missense_Mutation_p.K612N|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000381269.2_Intron|SLC8A3_ENST00000216568.7_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000356921.2_Intron NM_033262.3 NP_150287.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 612 Calx-beta 2. E -> Q (in a breast cancer sample; somatic mutation). 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) TGAAGTAATTCTTGTTTTTCT 0.403000 5 545 0.217242 0.220711 1 1 0 CP 1356 broad.mit.edu 37 3 148904372 148904372 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:148904372C>T ENST00000264613.6 - 11 2274 c.2012G>A c.(2011-2013)cGg>cAg p.R671Q CP_ENST00000462336.1_5'UTR NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 671 F5/8 type A 2.|Plastocyanin-like 4. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) TGTGTCTCTCCGTTCTCCTCT 0.458000 6 316 0 0 1 0 0 KIAA1984 84960 broad.mit.edu 37 9 139699235 139699235 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:139699235C>A ENST00000338005.6 + 8 849 c.814C>A c.(814-816)Ccc>Acc p.P272T KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA NM_001039374.4 NP_001034463.4 Q5T5S1 K1984_HUMAN KIAA1984 272 biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 13 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124) CTTGGACTTCCCCTCGAACCT 0.642000 3 37 0.00909568 0.0097673 1 1 0 MYOM1 8736 broad.mit.edu 37 18 3090749 3090749 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr18:3090749C>A ENST00000356443.4 - 27 4249 c.3916G>T c.(3916-3918)Gaa>Taa p.E1306* MYOM1_ENST00000261606.7_Nonsense_Mutation_p.E1210*|MYOM1_ENST00000400569.3_Nonsense_Mutation_p.E1306* NM_003803.3|NM_019856.1 NP_003794.3|NP_062830.1 P52179 MYOM1_HUMAN myomesin 1 1306 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGTAGCTTTTCCATGAACATT 0.378000 63 327 5.80444e-35 8.29904e-35 1 1 0 GUF1 60558 broad.mit.edu 37 4 44696434 44696434 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:44696434A>T ENST00000281543.5 + 14 1813 c.1619A>T c.(1618-1620)gAt>gTt p.D540V GUF1_ENST00000506793.1_3'UTR NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) 540 translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 TTTAGTTTTGATTACGAAGAT 0.343000 4 45 0 0 1 0 0 PAPD7 11044 broad.mit.edu 37 5 6751279 6751279 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:6751279C>A ENST00000230859.6 + 11 1367 c.1238C>A c.(1237-1239)tCc>tAc p.S413Y NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 413 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CCCACCACTTCCAGAACACTG 0.587000 19 173 6.44725e-10 8.26612e-10 1 1 0 HIPK3 10114 broad.mit.edu 37 11 33373738 33373738 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:33373738A>G ENST00000303296.4 + 16 3403 c.3098A>G c.(3097-3099)cAg>cGg p.Q1033R HIPK3_ENST00000525975.1_Missense_Mutation_p.Q1012R|HIPK3_ENST00000379016.3_Missense_Mutation_p.Q1012R|HIPK3_ENST00000456517.1_Missense_Mutation_p.Q1012R NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 1033 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 AGATTAAACCAGCCTTCTGCA 0.403000 7 506 0 0 1 0 0 SLC25A21 89874 broad.mit.edu 37 14 37194883 37194883 + Splice_Site SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:37194883C>G ENST00000331299.5 - 6 846 c.e6-1 SLC25A21_ENST00000555449.1_Splice_Site NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) TGGCGAATGTCTAGAAAAATT 0.358000 22 47 0 0 1 0 0 ZNF106 64397 broad.mit.edu 37 15 42743241 42743241 + Missense_Mutation SNP G G C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:42743241G>C ENST00000263805.4 - 2 1486 c.1160C>G c.(1159-1161)aCa>aGa p.T387R ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 CTGTATTCCTGTAGTTATCAA 0.388000 6 848 0 0 1 0 0 ZNF614 80110 broad.mit.edu 37 19 52519551 52519551 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:52519551T>C ENST00000270649.6 - 5 1844 c.1300A>G c.(1300-1302)Aaa>Gaa p.K434E ZNF614_ENST00000356322.6_Intron NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 434 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) GTGAAGCCTTTACCACATTCA 0.418000 4 264 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52575768 52575768 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:52575768C>A ENST00000395489.2 - 11 1514 c.1118G>T c.(1117-1119)aGa>aTa p.R373I A1CF_ENST00000373995.3_Missense_Mutation_p.R388I|A1CF_ENST00000395495.1_Missense_Mutation_p.R325I|A1CF_ENST00000373993.1_Missense_Mutation_p.R380I|A1CF_ENST00000282641.2_Missense_Mutation_p.R380I|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Missense_Mutation_p.R380I|A1CF_ENST00000373997.3_Missense_Mutation_p.R380I|A1CF_ENST00000493415.1_5'UTR NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 380 Required for nuclear localization. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GGTGTTACCTCTAACAGAAGG 0.458000 15 129 2.32078e-09 2.9532e-09 1 1 0 IGLV3-19 28797 broad.mit.edu 37 22 23063563 23063563 + RNA SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr22:23063563C>A ENST00000390309.2 + 0 310 ACACAGCTTCCTTGACCATCA 0.542000 6 129 0.217242 0.220711 1 1 0 UHRF1 29128 broad.mit.edu 37 19 4910785 4910785 + RNA SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:4910785G>A ENST00000592666.1 + 0 566 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 1 cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) GGAGTTTCCTGGTGTCCACAG 0.547000 OREG0025176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 16 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10108791 10108791 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:10108791G>A ENST00000264828.3 - 9 1230 c.1145C>T c.(1144-1146)gCa>gTa p.A382V NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 382 Nonhelical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) TTCAATCACTGCGGGCTCTCC 0.537000 10 1146 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42079650 42079650 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:42079650C>T ENST00000395925.3 - 7 1099 c.1015G>A c.(1015-1017)Gca>Aca p.A339T GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 339 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 ATTGCACTTGCAGATAAGTGA 0.418000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 5 182 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11784722 11784722 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:11784722C>A ENST00000262442.3 + 55 10866 c.10798C>A c.(10798-10800)Cag>Aag p.Q3600K DNAH9_ENST00000454412.2_Missense_Mutation_p.Q3600K NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3600 AAA 5 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGACTTGGAGCAGCTGAAGGT 0.587000 14 38 4.7546e-09 6.02013e-09 1 1 0 PPP6C 5537 broad.mit.edu 37 9 127951918 127951918 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:127951918C>A ENST00000451402.1 - 1 300 c.80G>T c.(79-81)aGc>aTc p.S27I PPP6C_ENST00000373546.3_Intron|PPP6C_ENST00000373547.4_Intron|PPP6C_ENST00000415905.1_Intron NM_001123355.1 NP_001116827.1 O00743 PPP6_HUMAN protein phosphatase 6, catalytic subunit 25 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 GCAAATAGGGCTCACCTTCAG 0.632000 38 114 1.81118e-26 2.53965e-26 1 1 0 HECTD4 283450 broad.mit.edu 37 12 112696345 112696345 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:112696345G>A ENST00000550722.1 - 20 3040 c.2645C>T c.(2644-2646)cCg>cTg p.P882L HECTD4_ENST00000377560.5_Missense_Mutation_p.P846L|HECTD4_ENST00000430131.2_Missense_Mutation_p.P596L|RP3-521E19.2_ENST00000547401.1_RNA NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TGCACCACACGGGGAACAGCC 0.498000 4 462 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71103317 71103317 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:71103317G>A ENST00000393567.2 - 14 1977 c.1827C>T c.(1825-1827)ggC>ggT p.G609G HYDIN_ENST00000541601.1_Silent_p.G626G|HYDIN_ENST00000538248.1_Silent_p.G636G|HYDIN_ENST00000448691.1_Silent_p.G609G|HYDIN_ENST00000448089.2_Silent_p.G609G|HYDIN_ENST00000393550.2_Silent_p.G624G|HYDIN_ENST00000288168.10_Silent_p.G626G|HYDIN_ENST00000321489.5_Silent_p.G609G|HYDIN_ENST00000543639.1_5'UTR NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 609 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGCTTTTATGGCCAAGGCCAT 0.413000 5 204 0 0 1 0 0 ITIH3 3699 broad.mit.edu 37 3 52830849 52830849 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:52830849G>A ENST00000449956.2 + 4 382 c.376G>A c.(376-378)Ggc>Agc p.G126S ITIH3_ENST00000416872.2_Missense_Mutation_p.G126S NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 126 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 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) CAAGACGGCCGGCTTGGTCAA 0.517000 3 94 0 0 1 0 0 KRT72 140807 broad.mit.edu 37 12 52979842 52979842 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:52979842C>A ENST00000293745.2 - 9 1545 c.1460G>T c.(1459-1461)aGc>aTc p.S487I KRT72_ENST00000537672.2_Missense_Mutation_p.S487I|KRT72_ENST00000354310.4_Missense_Mutation_p.S445I|KRT72_ENST00000398066.3_Missense_Mutation_p.S299I NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 487 Tail. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) ACTGCCACAGCTGCCTTTGGT 0.567000 35 1134 7.41877e-09 9.30088e-09 1 1 0 PTENP1 11191 broad.mit.edu 37 9 33676633 33676633 + RNA SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:33676633T>C ENST00000532280.1 - 0 864 NR_023917.1 AACGATCTCTTTGATGATGGC 0.463000 3 137 0 0 1 0 0 FLT3 2322 broad.mit.edu 37 13 28592645 28592645 + Nonsense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr13:28592645G>A ENST00000380982.4 - 20 2581 c.2500C>T c.(2500-2502)Cga>Tga p.R834* FLT3_ENST00000241453.7_Nonsense_Mutation_p.R834*|FLT3_ENST00000537084.1_Intron P36888 FLT3_HUMAN fms-related tyrosine kinase 3 834 Protein kinase. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.R834_D835del(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) ATGATATCTCGAGCCAATCCA 0.453000 """Mis, O""" """AML, ALL""" 4 72 0 0 1 0 0 APOA2 336 broad.mit.edu 37 1 161192276 161192276 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:161192276G>T ENST00000594609.1 + 2 211 c.211G>T c.(211-213)Ggg>Tgg p.G71W APOA2_ENST00000481413.1_5'UTR|APOA2_ENST00000367990.3_Silent_p.P74P TCTTGATCAGGGGTGTCAGCT 0.507000 9 924 7.48243e-07 9.08963e-07 1 1 0 NDUFA1 4694 broad.mit.edu 37 X 119005930 119005930 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:119005930C>T ENST00000371437.4 + 1 481 c.56C>T c.(55-57)cCa>cTa p.P19L NM_004541.3 NP_004532.1 O15239 NDUA1_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa 19 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|kidney(1)|large_intestine(2)|stomach(1) 5 NADH(DB00157) TTGTTGATTCCAGGACTGGCT 0.587000 4 119 0 0 1 0 0 PLA2G4F 255189 broad.mit.edu 37 15 42437859 42437859 + Missense_Mutation SNP G G C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:42437859G>C ENST00000397272.3 - 16 1791 c.1700C>G c.(1699-1701)gCc>gGc p.A567G PLA2G4F_ENST00000382396.4_Missense_Mutation_p.A565G NM_213600.3 NP_998765.3 Q68DD2 PA24F_HUMAN phospholipase A2, group IVF 565 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.97e-07) CAGGCTGGTGGCAAAGGCGCT 0.647000 4 39 0 0 1 0 0 ANGPT1 284 broad.mit.edu 37 8 108276471 108276471 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:108276471T>C ENST00000520734.1 - 7 999 c.714A>G c.(712-714)aaA>aaG p.K238K ANGPT1_ENST00000520052.1_Silent_p.K237K|ANGPT1_ENST00000518386.1_5'UTR Q15389 ANGP1_HUMAN angiopoietin 1 438 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 blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|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|Tie receptor signaling pathway 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) TGAGGGCACATTTGCACATAC 0.433000 10 75 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140985617 140985617 + Nonstop_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:140985617G>T ENST00000298296.1 + 8 1931 c.1931G>T c.(1930-1932)tGa>tTa p.*644L MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000409007.1_3'UTR NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 0 NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) TGTCCTGAGTGATGTCTGAAG 0.537000 5 435 1.23904e-05 1.45652e-05 1 1 0 NOTCH2 4853 broad.mit.edu 37 1 120466571 120466571 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:120466571G>T ENST00000256646.2 - 26 4767 c.4548C>A c.(4546-4548)aaC>aaA p.N1516K NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1516 Negative regulatory region (NRR). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GGTCACAGTGGTTGTCTTTGA 0.502000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 13 69 7.93312e-07 9.61419e-07 1 1 0 PHC1 1911 broad.mit.edu 37 12 9086983 9086983 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:9086983A>G ENST00000433083.2 + 9 2172 c.2027A>G c.(2026-2028)gAc>gGc p.D676G PHC1_ENST00000544916.1_Missense_Mutation_p.D721G|PHC1_ENST00000543824.1_Missense_Mutation_p.D721G|PHC1_ENST00000536844.1_Missense_Mutation_p.D327G P78364 PHC1_HUMAN polyhomeotic homolog 1 (Drosophila) 721 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 27 CAAATGGGTGACTCAAAACCC 0.522000 4 118 0 0 1 0 0 UBP1 7342 broad.mit.edu 37 3 33437737 33437737 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:33437737C>A ENST00000283629.3 - 13 1836 c.1307G>T c.(1306-1308)cGg>cTg p.R436L UBP1_ENST00000283628.5_Missense_Mutation_p.R436L|UBP1_ENST00000447368.2_Missense_Mutation_p.R400L|UBP1_ENST00000486388.1_5'UTR NM_001128161.1|NM_014517.4 NP_001121633.1|NP_055332.3 Q9NZI7 UBIP1_HUMAN upstream binding protein 1 (LBP-1a) 436 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2) 23 TGGCTGCTCCCGGCAGACATA 0.537000 4 362 0.150653 0.155543 1 1 0 ADGRG6 57211 broad.mit.edu 37 6 142737090 142737090 + Missense_Mutation SNP G G C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:142737090G>C ENST00000230173.6 + 20 3303 c.2827G>C c.(2827-2829)Gca>Cca p.A943P GPR126_ENST00000367609.3_Missense_Mutation_p.A943P|GPR126_ENST00000367608.2_Missense_Mutation_p.A915P|GPR126_ENST00000296932.8_Missense_Mutation_p.A915P NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 943 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity 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) CTTCCTTCTGGCAACCTTTAC 0.428000 8 140 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35591991 35591991 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:35591991C>T ENST00000353139.5 - 25 3626 c.3145G>A c.(3145-3147)Gcc>Acc p.A1049T ACACA_ENST00000360679.3_Missense_Mutation_p.A954T|ACACA_ENST00000335166.5_Missense_Mutation_p.A934T|ACACA_ENST00000394406.2_Missense_Mutation_p.A1012T NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1012 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding p.A954T(1)|p.A1049T(1) NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TCTCGGAGGGCGAATACACAT 0.393000 6 707 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47336769 47336769 + Splice_Site SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:47336769A>G ENST00000342922.4 + 27 4449 c.e27-1 MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000311027.5_Splice_Site|MADD_ENST00000395336.3_Splice_Site NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CTCTTTCATCAGAATGGACGC 0.473000 3 55 0 0 1 0 0 ABCG8 64241 broad.mit.edu 37 2 44101009 44101009 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:44101009G>A ENST00000272286.2 + 9 1385 c.1295G>A c.(1294-1296)gGc>gAc p.G432D NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 432 ABC transmembrane type-2. 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) ATGACCATCGGCTTCCTCTAT 0.522000 6 770 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151935680 151935680 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:151935680G>A ENST00000535741.1 - 2 588 c.115C>T c.(115-117)Ctc>Ttc p.L39F LRBA_ENST00000357115.3_Missense_Mutation_p.L39F|LRBA_ENST00000510413.1_Missense_Mutation_p.L39F|LRBA_ENST00000507224.1_Missense_Mutation_p.L39F P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 39 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CTGATGGGGAGCCCTGGTTTC 0.512000 55 13 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53783446 53783446 + Nonsense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:53783446C>T ENST00000288139.3 + 28 3644 c.3526C>T c.(3526-3528)Cag>Tag p.Q1176* CACNA1D_ENST00000540742.1_Nonsense_Mutation_p.Q63*|CACNA1D_ENST00000350061.5_Nonsense_Mutation_p.Q1156*|CACNA1D_ENST00000422281.2_Nonsense_Mutation_p.Q1156* NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1156 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) CGTTACATTTCAGGAACAAGG 0.428000 5 97 0 0 1 0 0 SEZ6 124925 broad.mit.edu 37 17 27287824 27287824 + Splice_Site SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:27287824T>C ENST00000317338.12 - 6 1836 c.1409_splice c.e6+1 p.R470_splice SEZ6_ENST00000360295.9_Splice_Site_p.R470_splice|SEZ6_ENST00000442608.3_Splice_Site_p.R470_splice|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Splice_Site_p.R470_splice Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 470 CUB 1. integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) GCCCCTCACCTGTCATCATCC 0.607000 4 534 0 0 1 0 0 ZHX2 22882 broad.mit.edu 37 8 123964520 123964520 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:123964520A>G ENST00000314393.4 + 3 1605 c.770A>G c.(769-771)aAg>aGg p.K257R NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 257 Required for homodimerization. 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) CTTGTGCCCAAGGTCCCTGTC 0.507000 5 447 0 0 1 0 0 SPAG7 9552 broad.mit.edu 37 17 4863593 4863593 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:4863593G>A ENST00000573366.1 - 4 968 c.110C>T c.(109-111)gCt>gTt p.A37V SPAG7_ENST00000575142.1_Missense_Mutation_p.A77V|SPAG7_ENST00000206020.3_Missense_Mutation_p.A88V O75391 SPAG7_HUMAN sperm associated antigen 7 88 nucleus nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1) 10 TGTCAGGCCAGCCACTTCCAC 0.557000 3 42 0 0 1 0 0 OR51I1 390063 broad.mit.edu 37 11 5462299 5462299 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:5462299C>T ENST00000380211.1 - 1 445 c.446G>A c.(445-447)gGc>gAc p.G149D AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTAAGGATGCCCAGACCCAT 0.473000 5 397 0 0 1 0 0 LCA5 167691 broad.mit.edu 37 6 80223213 80223213 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:80223213C>A ENST00000392959.1 - 4 1047 c.436G>T c.(436-438)Gcc>Tcc p.A146S LCA5_ENST00000467898.2_Missense_Mutation_p.A146S|LCA5_ENST00000369846.4_Missense_Mutation_p.A146S NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 146 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TTATTCAGGGCTTTCTCCTGT 0.363000 3 59 1 1 1 1 0 TAF4 6874 broad.mit.edu 37 20 60574157 60574157 + Missense_Mutation SNP T T G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:60574157T>G ENST00000252996.3 - 12 2794 c.2795A>C c.(2794-2796)gAc>gCc p.D932A NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa 932 interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) CTCATATCTGTCGTCATCCTA 0.488000 5 428 0 0 1 0 0 PDXK 8566 broad.mit.edu 37 21 45152365 45152365 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr21:45152365C>A ENST00000327574.4 + 2 457 c.107C>A c.(106-108)tCg>tAg p.S36* PDXK_ENST00000398081.1_Intron|PDXK_ENST00000476313.1_Intron|PDXK_ENST00000291565.4_Intron|PDXK_ENST00000468090.1_Intron O00764 PDXK_HUMAN pyridoxal (pyridoxine, vitamin B6) kinase 0 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) TCAGCTTGCTCGTGCTCTCAT 0.493000 3 29 0.115264 0.119247 1 1 0 HSPA2 3306 broad.mit.edu 37 14 65008729 65008729 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:65008729T>C ENST00000247207.6 + 1 1544 c.1162T>C c.(1162-1164)Tca>Cca p.S388P HSPA2_ENST00000394709.1_Missense_Mutation_p.S388P NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 388 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) CGGCGACAAATCAGAGAATGT 0.602000 3 67 0 0 1 0 0 AURKC 6795 broad.mit.edu 37 19 57743445 57743445 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:57743445G>T ENST00000302804.7 + 3 335 c.149G>T c.(148-150)gGc>gTc p.G50V AURKC_ENST00000599062.1_Missense_Mutation_p.G47V|AURKC_ENST00000598785.1_Missense_Mutation_p.G16V|AURKC_ENST00000448930.1_Missense_Mutation_p.G16V|AURKC_ENST00000415300.2_Missense_Mutation_p.G31V NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 50 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) CGTCCCCTGGGCAAGGGGAAA 0.542000 4 77 0.00024832 0.000280255 1 1 0 PGBD2 267002 broad.mit.edu 37 1 249212482 249212482 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:249212482C>T ENST00000355360.4 + 3 1216 c.946C>T c.(946-948)Cac>Tac p.H316Y PGBD2_ENST00000539153.1_Missense_Mutation_p.H564Y|PGBD2_ENST00000329291.5_Missense_Mutation_p.H567Y NM_001017434.1 NP_001017434.1 Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 567 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TGCCCTCTGCCACTCACAGAC 0.552000 7 156 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46835125 46835125 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr22:46835125C>T ENST00000262738.3 - 3 4366 c.4367G>A c.(4366-4368)cGg>cAg p.R1456Q NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1456 Laminin G-like 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TCTCAGGCCCCGGAAGGTGAC 0.642000 4 323 0 0 1 0 0 HERC6 55008 broad.mit.edu 37 4 89334236 89334236 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:89334236C>T ENST00000380265.5 + 12 1559 c.1376C>T c.(1375-1377)aCg>aTg p.T459M HERC6_ENST00000264346.7_Missense_Mutation_p.T459M NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 459 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity p.T459M(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) CAGATAACTACGTGTCTCGAG 0.443000 16 2057 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42473048 42473048 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:42473048A>G ENST00000545399.1 - 20 2900 c.2747T>C c.(2746-2748)gTg>gCg p.V916A ATP1A3_ENST00000602133.1_Missense_Mutation_p.V873A|ATP1A3_ENST00000543770.1_Missense_Mutation_p.V914A|ATP1A3_ENST00000302102.5_Missense_Mutation_p.V903A NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 903 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GAACTCCACCACCTTCCTCTG 0.612000 5 255 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39885673 39885673 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:39885673G>A ENST00000260356.5 + 19 3236 c.3071G>A c.(3070-3072)gGa>gAa p.G1024E NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 1024 TSP C-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GACTATGCTGGATTTGTCTTT 0.517000 5 577 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7811408 7811408 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:7811408C>T ENST00000315599.7 - 3 138 c.116G>A c.(115-117)gGc>gAc p.G39D CD209_ENST00000394173.4_Missense_Mutation_p.G39D|CD209_ENST00000204801.8_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.G39D|CD209_ENST00000601951.1_Intron|CD209_ENST00000601256.1_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000593660.1_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.G39D|CD209_ENST00000394161.5_Missense_Mutation_p.G39D|CD209_ENST00000315591.8_Intron|CD209_ENST00000301357.8_Intron NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 39 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 endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GGGACCATGGCCAAGACACCC 0.642000 5 352 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79566670 79566670 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:79566670G>A ENST00000372391.2 - 26 4818 c.4813C>T c.(4813-4815)Ctg>Ttg p.L1605L DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.L1265L NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1605 SH3. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ACATCTGCCAGCCGGTCGTAC 0.597000 3 61 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88768273 88768273 + RNA SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:88768273C>T ENST00000444431.1 + 0 2873 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding AGTCCATGGGCTGGTCCAACC 0.567000 14 1001 0 0 1 0 0 GGCX 2677 broad.mit.edu 37 2 85779652 85779652 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:85779652G>T ENST00000233838.3 - 10 1406 c.1326C>A c.(1324-1326)gaC>gaA p.D442E GGCX_ENST00000430215.3_Missense_Mutation_p.D385E|GGCX_ENST00000473665.1_5'UTR NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase 442 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) GCTTCAGCATGTCTGCATGAT 0.478000 OREG0014747 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 202 1332 7.89626e-74 1.15827e-73 1 1 0 MYRF 745 broad.mit.edu 37 11 61538984 61538984 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:61538984C>A ENST00000278836.5 + 6 849 c.753C>A c.(751-753)caC>caA p.H251Q TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.H242Q NM_001127392.1 NP_001120864.1 myelin regulatory factor TCCCTACACACCCCTCCAAGA 0.617000 3 9 1 1 1 1 0 KLHDC7A 127707 broad.mit.edu 37 1 18809651 18809651 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:18809651T>C ENST00000400664.1 + 1 2228 c.2176T>C c.(2176-2178)Tac>Cac p.Y726H NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 726 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CAACCTCATCTACTGCGTGGG 0.662000 3 26 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20554584 20554584 + Splice_Site SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:20554584C>T ENST00000329697.6 - 11 1450 c.1281_splice c.e11-1 p.E428_splice ACSM2B_ENST00000565232.1_Splice_Site_p.E428_splice|ACSM2B_ENST00000565322.1_Splice_Site_p.E349_splice|ACSM2B_ENST00000567001.1_Splice_Site_p.E428_splice NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 428 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|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 TCGGGATTTTCCTGGTGACCA 0.483000 4 174 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52250087 52250087 + Missense_Mutation SNP C C T rs145808420 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:52250087C>T ENST00000595042.1 - 3 302 c.161G>A c.(160-162)cGg>cAg p.R54Q FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 54 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GTGTGTCATCCGGAATCCAGC 0.527000 12 1251 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26219542 26219542 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr22:26219542G>T ENST00000335473.7 + 13 2842 c.2592G>T c.(2590-2592)gaG>gaT p.E864D MYO18B_ENST00000407587.2_Missense_Mutation_p.E864D|MYO18B_ENST00000536101.1_Missense_Mutation_p.E864D NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 864 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GCGAGTATGAGGAGCTGAACA 0.572000 5 423 1.024e-07 1.26509e-07 1 1 0 TTF1 7270 broad.mit.edu 37 9 135266069 135266069 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:135266069G>A ENST00000334270.2 - 7 2176 c.2137C>T c.(2137-2139)Cgg>Tgg p.R713W NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 713 Myb-like 2. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) AGTTTTTCCCGAACAATTGAT 0.418000 10 962 0 0 1 0 0 SUV39H2 79723 broad.mit.edu 37 10 14939306 14939306 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:14939306T>A ENST00000313519.5 + 2 690 c.459T>A c.(457-459)aaT>aaA p.N153K SUV39H2_ENST00000378325.3_Intron|SUV39H2_ENST00000354919.6_Missense_Mutation_p.N213K NM_001193425.1|NM_024670.3 NP_001180354.1|NP_078946.1 Q9H5I1 SUV92_HUMAN suppressor of variegation 3-9 homolog 2 (Drosophila) 213 cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin|chromosome, centromeric region|nucleus histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1) 19 TGGCTTATAATAAAAACCAAC 0.393000 5 89 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204294 9204294 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:9204294C>T ENST00000429566.3 + 1 440 c.374C>T c.(373-375)gCc>gTc p.A125V NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CGGTTCGTGGCCATCTGCCAC 0.542000 4 239 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48575226 48575226 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:48575226C>A ENST00000537810.1 - 26 3485 c.2881G>T c.(2881-2883)Gaa>Taa p.E961* FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Nonsense_Mutation_p.E961*|FRYL_ENST00000507711.1_Nonsense_Mutation_p.E961*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.E961* O94915 FRYL_HUMAN FRY-like 961 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 TCGAGTGCTTCTTTAATTATG 0.343000 14 74 1.64113e-05 1.92032e-05 1 1 0 AP4B1 10717 broad.mit.edu 37 1 114437917 114437917 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:114437917C>A ENST00000369569.1 - 10 2270 c.1990G>T c.(1990-1992)Gtg>Ttg p.V664L AP4B1_ENST00000369567.1_Missense_Mutation_p.V496L|AP4B1_ENST00000256658.4_Missense_Mutation_p.V664L|AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit 664 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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) TGGATGTTCACTACTTGAAGA 0.488000 10 213 1.76689e-08 2.19353e-08 1 1 0 CAPN2 824 broad.mit.edu 37 1 223954130 223954130 + Silent SNP A A C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:223954130A>C ENST00000295006.5 + 16 2061 c.1752A>C c.(1750-1752)ctA>ctC p.L584L CAPN2_ENST00000433674.2_Silent_p.L506L|CAPN2_ENST00000474026.1_3'UTR NM_001748.4 NP_001739.2 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 584 Domain IV.|EF-hand 1. proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) TTGACATGCTAGATGTATCCT 0.403000 5 104 0 0 1 0 0 GRXCR2 643226 broad.mit.edu 37 5 145252410 145252410 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:145252410T>C ENST00000377976.1 - 1 121 c.122A>G c.(121-123)gAa>gGa p.E41G NM_001080516.1 NP_001073985.1 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 41 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 TGACTCTAATTCCTGCCCATC 0.488000 15 1222 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154221341 154221341 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:154221341C>A ENST00000360256.4 - 4 671 c.471G>T c.(469-471)tgG>tgT p.W157C NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 157 F5/8 type A 1.|Plastocyanin-like 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCAGGACCTGCCAGACATATG 0.448000 4 290 1 1 1 1 0 GNL1 2794 broad.mit.edu 37 6 30520260 30520260 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:30520260C>T ENST00000376621.3 - 8 2053 c.1083G>A c.(1081-1083)gtG>gtA p.V361V NM_005275.3 NP_005266.2 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 361 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 AGCCGATGGTCACCACCCCAT 0.572000 22 189 0 0 1 0 0 IRF5 3663 broad.mit.edu 37 7 128587936 128587936 + Missense_Mutation SNP G G A rs144448991 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:128587936G>A ENST00000402030.2 + 7 965 c.893G>A c.(892-894)cGc>cAc p.R298H IRF5_ENST00000357234.5_Missense_Mutation_p.R314H|IRF5_ENST00000477535.1_Missense_Mutation_p.R212H|IRF5_ENST00000473745.1_Missense_Mutation_p.R298H|IRF5_ENST00000249375.4_Missense_Mutation_p.R298H NM_001098629.1|NM_001098630.1 NP_001092099.1|NP_001092100.1 Q13568 IRF5_HUMAN interferon regulatory factor 5 298 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1) 15 GAGCAAGTGCGCTTCCCCAGC 0.632000 8 34 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65342090 65342090 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:65342090C>T ENST00000402939.2 - 23 4351 c.4352G>A c.(4351-4353)cGa>cAa p.R1451Q MAGI1_ENST00000330909.8_3'UTR NM_001033057.1 NP_001028229.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1480 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TTTGTAAGGTCGCCTTCTCTG 0.517000 4 196 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201772738 201772738 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:201772738C>A ENST00000367296.4 + 16 3955 c.3535C>A c.(3535-3537)Caa>Aaa p.Q1179K NAV1_ENST00000295624.6_Missense_Mutation_p.Q1179K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.Q1135K|NAV1_ENST00000367295.1_Missense_Mutation_p.Q788K|NAV1_ENST00000367300.3_Missense_Mutation_p.Q1122K|NAV1_ENST00000367297.4_Missense_Mutation_p.Q1171K NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1179 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 GATCAAGAGACAAAACTCCTC 0.443000 46 129 6.21074e-16 8.38532e-16 1 1 0 HYAL1 3373 broad.mit.edu 37 3 50340148 50340148 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:50340148G>A ENST00000266031.4 - 1 855 c.240C>T c.(238-240)ggC>ggT p.G80G HYAL1_ENST00000395143.2_Silent_p.G80G|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000395144.2_Silent_p.G80G|HYAL1_ENST00000457214.2_Intron|HYAL1_ENST00000320295.8_Silent_p.G80G Q12794 HYAL1_HUMAN hyaluronoglucosaminidase 1 80 extracellular space|lysosome hyalurononglucosaminidase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) Hyaluronidase(DB00070) AGGGGTAGGTGCCCAGCTGGG 0.597000 11 417 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43515433 43515433 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:43515433T>C ENST00000265351.7 - 19 2282 c.2072A>G c.(2071-2073)gAt>gGt p.D691G NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 691 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) AGCATCAACATCTGACAGCAC 0.458000 5 244 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64601642 64601642 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:64601642C>A ENST00000498707.1 - 20 3360 c.3018G>T c.(3016-3018)tgG>tgT p.W1006C ADAMTS9_ENST00000295903.4_Missense_Mutation_p.W978C NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1006 TSP type-1 4. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TTACTTCAGTCCAGGCAGAAT 0.498000 5 418 6.5536e-12 8.64192e-12 1 1 0 NLGN1 22871 broad.mit.edu 37 3 173322742 173322742 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:173322742C>A ENST00000457714.1 + 3 783 c.354C>A c.(352-354)ccC>ccA p.P118P NLGN1_ENST00000361589.4_Silent_p.P118P|NLGN1_ENST00000401917.3_Silent_p.P118P|NLGN1_ENST00000545397.1_Silent_p.P118P NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 118 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity p.P118P(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) CTGTGTGTCCCCAGAATATCA 0.478000 5 391 0.014758 0.0156823 1 1 0 EPHA5 2044 broad.mit.edu 37 4 66467884 66467884 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:66467884C>A ENST00000273854.3 - 3 985 c.385G>T c.(385-387)Gaa>Taa p.E129* EPHA5_ENST00000354839.4_Nonsense_Mutation_p.E129*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.E129*|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.E129* NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 129 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 AATTTGAGTTCTATGAAGATT 0.423000 TSP Lung(17;0.13) 35 135 1.07637e-12 1.43422e-12 1 1 0 EDNRB 1910 broad.mit.edu 37 13 78492255 78492255 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr13:78492255C>T ENST00000377211.4 - 2 876 c.724G>A c.(724-726)Gtc>Atc p.V242I EDNRB_ENST00000446573.1_Missense_Mutation_p.V152I|EDNRB_ENST00000334286.5_Missense_Mutation_p.V152I NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 152 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 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) ATGTCAATGACGATGTGCAGC 0.507000 11 364 0 0 1 0 0 CHIA 27159 broad.mit.edu 37 1 111857217 111857217 + Splice_Site SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:111857217C>T ENST00000369740.1 + 5 416 c.314_splice c.e5+1 p.P105_splice CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000483391.1_5'UTR|CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000343320.6_Splice_Site_p.P105_splice|CHIA_ENST00000353665.6_5'UTR NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 105 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) CGGGACTGCCCCGTAAGTCTT 0.453000 11 32 0 0 1 0 0 NCR1 9437 broad.mit.edu 37 19 55420787 55420787 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:55420787T>C ENST00000594765.1 + 4 564 c.539T>C c.(538-540)gTg>gCg p.V180A NCR1_ENST00000338835.5_Missense_Mutation_p.V180A|NCR1_ENST00000447255.1_Missense_Mutation_p.V180A|NCR1_ENST00000598576.1_Missense_Mutation_p.V168A|NCR1_ENST00000291890.4_Missense_Mutation_p.V180A|NCR1_ENST00000350790.5_Missense_Mutation_p.V85A|NCR1_ENST00000357397.5_Missense_Mutation_p.V73A O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 180 Ig-like 2. cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) CTGGGCCCTGTGACCACAGCC 0.577000 4 139 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9424630 9424630 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:9424630A>T ENST00000378501.2 + 27 2746 c.2731A>T c.(2731-2733)Att>Ttt p.I911F PLCB4_ENST00000414679.2_Missense_Mutation_p.I923F|PLCB4_ENST00000378493.1_Missense_Mutation_p.I911F|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.I911F|PLCB4_ENST00000278655.4_Missense_Mutation_p.I911F|PLCB4_ENST00000378473.3_Missense_Mutation_p.I923F NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 911 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TTGTTTAGGTATTGAACTTAT 0.313000 4 131 0 0 1 0 0 RERG 85004 broad.mit.edu 37 12 15262356 15262356 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:15262356C>A ENST00000256953.2 - 5 624 c.288G>T c.(286-288)ctG>ctT p.L96L RERG_ENST00000536465.1_Silent_p.L96L|RERG_ENST00000546331.1_Silent_p.L77L|RERG_ENST00000538313.1_Silent_p.L96L NM_032918.2 NP_116307.1 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 96 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 TCTTAAGTGGCAGCACTTCCT 0.488000 70 706 9.2564e-22 1.27683e-21 1 1 0 ADCY8 114 broad.mit.edu 37 8 131896926 131896926 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:131896926C>T ENST00000286355.5 - 8 4085 c.1993G>A c.(1993-1995)Gag>Aag p.E665K ADCY8_ENST00000377928.3_Missense_Mutation_p.E665K NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 665 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) TTAATTTCCTCAGGCCCAGAC 0.438000 HNSCC(32;0.087) 4 258 0 0 1 0 0 CYP27A1 1593 broad.mit.edu 37 2 219677361 219677361 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:219677361G>A ENST00000258415.4 + 4 1160 c.733G>A c.(733-735)Ggg>Agg p.G245R NM_000784.3 NP_000775.1 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, polypeptide 1 245 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1) 26 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) CAGATCCATCGGGTTAATGTT 0.542000 5 641 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11137010 11137010 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:11137010G>A ENST00000358026.2 + 23 3487 c.3203G>A c.(3202-3204)gGc>gAc p.G1068D SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1068D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1068D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1068D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1068D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1068D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1068D NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1068 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TTCACTGGCGGCATTGTCCAA 0.592000 """F, N, Mis""" NSCLC 3 107 0 0 1 0 0 FOXJ2 55810 broad.mit.edu 37 12 8196343 8196343 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:8196343G>T ENST00000162391.3 + 4 1600 c.455G>T c.(454-456)aGa>aTa p.R152I FOXJ2_ENST00000428177.2_Missense_Mutation_p.R152I NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 152 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) TCCCGAAAGAGAAGACACCCT 0.483000 5 638 0.0293803 0.0307708 1 1 0 SNHG14 104472715 broad.mit.edu 37 15 25304766 25304766 + RNA SNP G G A rs140779859 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:25304766G>A ENST00000549804.2 + 0 159 SNHG14_ENST00000384733.1_RNA GTCGTTCTCAGCGGAACTGAG 0.517000 4 350 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61417421 61417421 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:61417421A>G ENST00000398571.2 - 78 9934 c.9858T>C c.(9856-9858)agT>agC p.S3286S NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 3286 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TTAAAGAAGCACTTGCTTTGG 0.408000 8 410 0 0 1 0 0 OR7G2 390882 broad.mit.edu 37 19 9213196 9213196 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:9213196C>A ENST00000305456.2 - 1 786 c.787G>T c.(787-789)Ggg>Tgg p.G263W NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 AGGTGAGACCCACAGGTGGAA 0.473000 7 186 0.00448238 0.00489599 1 1 0 FLVCR2 55640 broad.mit.edu 37 14 76088498 76088498 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:76088498A>G ENST00000238667.4 + 2 1102 c.746A>G c.(745-747)cAc>cGc p.H249R FLVCR2_ENST00000556856.1_5'UTR|FLVCR2_ENST00000539311.1_Missense_Mutation_p.H44R|FLVCR2_ENST00000553587.1_5'UTR|FLVCR2_ENST00000556241.1_3'UTR NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 249 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) CTTGCCTACCACATCAGCATC 0.478000 8 783 0 0 1 0 0 ACAD9 28976 broad.mit.edu 37 3 128623348 128623348 + Splice_Site SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:128623348G>T ENST00000308982.7 + 11 1230 c.1149_splice c.e11+1 p.K383_splice ACAD9_ENST00000511526.1_3'UTR NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 383 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 CCATGGTGAAGGTAACCCTGG 0.567000 3 101 0.014758 0.0156823 1 1 0 GRM7 2917 broad.mit.edu 37 3 7620404 7620404 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:7620404C>T ENST00000486284.1 + 8 2085 c.1811C>T c.(1810-1812)gCc>gTc p.A604V GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.A604V|GRM7_ENST00000403881.1_Missense_Mutation_p.A604V|GRM7_ENST00000402647.2_Missense_Mutation_p.A604V|GRM7_ENST00000357716.4_Missense_Mutation_p.A604V NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 604 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 adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|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) GGGATCATTGCCACCATCTTT 0.522000 4 122 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38158135 38158135 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:38158135G>A ENST00000308059.6 + 28 4069 c.4048G>A c.(4048-4050)Gaa>Aaa p.E1350K DLEC1_ENST00000346219.3_Missense_Mutation_p.E1350K|DLEC1_ENST00000452631.2_Missense_Mutation_p.E1353K Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1350 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) ATTCAGCCATGAAACTGACTC 0.627000 4 165 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71199307 71199307 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:71199307G>A ENST00000554752.2 - 11 2778 c.2779C>T c.(2779-2781)Cta>Tta p.L927L MAP3K9_ENST00000381250.4_Silent_p.L904L|MAP3K9_ENST00000553414.1_Silent_p.L660L|MAP3K9_ENST00000554146.1_Silent_p.L655L|MAP3K9_ENST00000555993.2_Silent_p.L941L P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 927 Pro-rich. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) CTGCTGGCTAGGAGAGTCTCT 0.597000 3 68 0 0 1 0 0 KLHL40 131377 broad.mit.edu 37 3 42730412 42730412 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:42730412G>A ENST00000287777.4 + 4 1573 c.1473G>A c.(1471-1473)aaG>aaA p.K491K NM_152393.2 NP_689606.2 kelch-like family member 40 TTGAGTGGAAGGAGCTGGCAC 0.607000 4 163 0 0 1 0 0 SLC5A11 115584 broad.mit.edu 37 16 24887048 24887048 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:24887048T>C ENST00000347898.3 + 6 1095 c.473T>C c.(472-474)aTc>aCc p.I158T SLC5A11_ENST00000568579.1_Intron|SLC5A11_ENST00000565769.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000569071.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000539472.1_Missense_Mutation_p.I94T|SLC5A11_ENST00000567758.1_Intron|SLC5A11_ENST00000424767.2_Intron|SLC5A11_ENST00000545376.1_Intron|SLC5A11_ENST00000449109.2_Missense_Mutation_p.I94T NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 158 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TTCACCAAGATCTCGGTAAGG 0.527000 4 375 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79553848 79553848 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:79553848C>T ENST00000372391.2 - 31 5579 c.5574G>A c.(5572-5574)agG>agA p.R1858R DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.R1518R NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1858 Guanylate kinase-like. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TCACCTTGTCCCTCAGGTAGA 0.592000 7 838 0 0 1 0 0 SLC25A12 8604 broad.mit.edu 37 2 172641944 172641944 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:172641944G>A ENST00000422440.2 - 18 1914 c.1877C>T c.(1876-1878)gCa>gTa p.A626V SLC25A12_ENST00000392592.4_Missense_Mutation_p.A519V NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 626 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) AGGAAGGTCTGCAATGCGTGA 0.498000 4 81 0 0 1 0 0 PDS5A 23244 broad.mit.edu 37 4 39910035 39910035 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:39910035C>A ENST00000303538.8 - 11 1752 c.1213G>T c.(1213-1215)Gaa>Taa p.E405* PDS5A_ENST00000503396.1_Nonsense_Mutation_p.E405* NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 405 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 AGTGTTCTTTCCCTTACAAAG 0.363000 4 192 0.000602214 0.000670738 1 1 0 MYO19 80179 broad.mit.edu 37 17 34861237 34861237 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:34861237G>T ENST00000431794.3 - 19 2326 c.1804C>A c.(1804-1806)Ctg>Atg p.L602M MYO19_ENST00000268852.9_Intron NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 602 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AGCTGCTCCAGTGAGGCCTGC 0.592000 3 20 0.00024832 0.000280255 1 1 0 HSPG2 3339 broad.mit.edu 37 1 22203096 22203096 + Missense_Mutation SNP T T G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:22203096T>G ENST00000374695.3 - 22 2814 c.2735A>C c.(2734-2736)cAc>cCc p.H912P NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 912 Laminin EGF-like 4; truncated. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGTACTCAGGTGGAAAGAGCC 0.592000 4 17 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004813 248004813 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:248004813G>A ENST00000355784.2 - 1 441 c.386C>T c.(385-387)cCa>cTa p.P129L NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GTAGCGGAGTGGGCTGCAGAT 0.602000 4 73 0 0 1 0 0 TRIM31 11074 broad.mit.edu 37 6 30071491 30071491 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:30071491G>T ENST00000376734.3 - 9 1225 c.1100C>A c.(1099-1101)gCt>gAt p.A367D TRIM31_ENST00000540829.1_Missense_Mutation_p.A367D NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 367 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 GACTTTCCCAGCAGACGAGGC 0.532000 101 300 2.07075e-64 3.0201e-64 1 1 0 AHNAK 79026 broad.mit.edu 37 11 62299309 62299309 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:62299309G>A ENST00000378024.4 - 5 2854 c.2580C>T c.(2578-2580)gaC>gaT p.D860D AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 860 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) GGACATCAATGTCCATTTTGG 0.453000 5 502 0 0 1 0 0 STYXL1 51657 broad.mit.edu 37 7 75633083 75633083 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:75633083G>T ENST00000451157.1 - 7 859 c.690C>A c.(688-690)caC>caA p.H230Q STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000248600.1_Missense_Mutation_p.H230Q|STYXL1_ENST00000431581.1_Missense_Mutation_p.H230Q|STYXL1_ENST00000340062.5_Missense_Mutation_p.H134Q|STYXL1_ENST00000359697.3_Missense_Mutation_p.H230Q Q9Y6J8 STYL1_HUMAN serine/threonine/tyrosine interacting-like 1 230 Tyrosine-protein phosphatase. intracellular signal transduction|protein dephosphorylation intracellular protein binding|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 10 TACCAATGAAGTGACACATGT 0.547000 7 108 5.4927e-09 6.92026e-09 1 1 0 AGBL5 60509 broad.mit.edu 37 2 27276327 27276327 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:27276327C>T ENST00000360131.4 + 3 432 c.273C>T c.(271-273)aaC>aaT p.N91N AGBL5_ENST00000323064.8_Silent_p.N91N NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 91 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCAAGATCAACATTATGAACA 0.542000 3 71 0 0 1 0 0 FAM222A 84915 broad.mit.edu 37 12 110205834 110205834 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:110205834G>A ENST00000538780.1 + 3 816 c.100G>A c.(100-102)Gcc>Acc p.A34T FAM222A-AS1_ENST00000541460.1_RNA|FAM222A-AS1_ENST00000541723.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.A34T NM_032829.2 NP_116218.2 Q5U5X8 CL034_HUMAN family with sequence similarity 222, member A 34 GGTGGCCAGCGCCATGCATTC 0.652000 37 3004 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63256443 63256443 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:63256443C>T ENST00000323865.3 - 1 1337 c.1104G>A c.(1102-1104)ctG>ctA p.L368L RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 368 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CGCAGAAGGGCAGAACAAGAG 0.572000 7 567 0 0 1 0 0 CDK4 1019 broad.mit.edu 37 12 58145072 58145072 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:58145072A>G ENST00000257904.6 - 3 637 c.272T>C c.(271-273)cTg>cCg p.L91P CDK4_ENST00000312990.6_Intron|CDK4_ENST00000551888.1_Intron|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000540325.1_Intron NM_000075.3 NP_000066.1 P11802 CDK4_HUMAN cyclin-dependent kinase 4 91 Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) CTCAAACACCAGGGTTACCTT 0.532000 Mis melanoma Hereditary Melanoma 5 460 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186536215 186536215 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:186536215G>T ENST00000431808.1 - 17 3301 c.2738C>A c.(2737-2739)cCg>cAg p.P913Q SORBS2_ENST00000418609.1_Missense_Mutation_p.P817Q|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000448662.2_Missense_Mutation_p.P474Q|SORBS2_ENST00000284776.7_Missense_Mutation_p.P913Q|SORBS2_ENST00000319471.9_Missense_Mutation_p.P544Q|SORBS2_ENST00000393528.3_Missense_Mutation_p.P479Q|SORBS2_ENST00000355634.5_Missense_Mutation_p.P1013Q|SORBS2_ENST00000437304.2_Missense_Mutation_p.P637Q|SORBS2_ENST00000449407.2_Missense_Mutation_p.P457Q O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 913 SH3 1. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GTATGAGATCGGGAAGATGCC 0.443000 5 120 3.59834e-05 4.14379e-05 1 1 0 TMEM33 55161 broad.mit.edu 37 4 41956089 41956089 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:41956089C>A ENST00000504986.1 + 7 982 c.617C>A c.(616-618)aCc>aAc p.T206N TMEM33_ENST00000513702.1_Missense_Mutation_p.T206N|TMEM33_ENST00000325094.5_Missense_Mutation_p.T206N NM_018126.2 NP_060596.2 P57088 TMM33_HUMAN transmembrane protein 33 206 integral to membrane|melanosome protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 TCTTGCAGGACCTTATTTAAT 0.343000 4 85 8.12818e-05 9.29718e-05 1 1 0 TRAV13-2 28670 broad.mit.edu 37 14 22386370 22386370 + RNA SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:22386370G>T ENST00000390439.2 + 0 8 ACCCGATGATGGAAGTAGCTC 0.403000 5 76 7.03913e-09 8.8467e-09 1 1 0 FER 2241 broad.mit.edu 37 5 108168555 108168555 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:108168555C>A ENST00000281092.4 + 4 676 c.292C>A c.(292-294)Cac>Aac p.H98N FER_ENST00000536402.1_Missense_Mutation_p.H98N|FER_ENST00000502752.1_3'UTR|FER_ENST00000438717.2_Intron NM_005246.2 NP_005237.2 P16591 FER_HUMAN fer (fps/fes related) tyrosine kinase 98 Important for interaction with membranes containing phosphoinositides. intracellular signal transduction|peptidyl-tyrosine phosphorylation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 32 all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152) OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174) TGGACCTTTACACAGGCTCAC 0.393000 9 483 1.76689e-08 2.19353e-08 1 1 0 OCA2 4948 broad.mit.edu 37 15 28230277 28230277 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:28230277C>T ENST00000354638.3 - 13 1452 c.1297G>A c.(1297-1299)Gcg>Acg p.A433T OCA2_ENST00000382996.2_Missense_Mutation_p.A433T|OCA2_ENST00000353809.5_Missense_Mutation_p.A409T NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 433 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGGACGGCCGCGATGAGACAG 0.597000 Oculocutaneous Albinism 87 226 0 0 1 0 0 EOGT 285203 broad.mit.edu 37 3 69026898 69026898 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:69026898C>T ENST00000383701.3 - 18 2197 c.1455G>A c.(1453-1455)ctG>ctA p.L485L EOGT_ENST00000540764.1_Silent_p.L384L|EOGT_ENST00000540955.1_Silent_p.L209L|EOGT_ENST00000295571.5_Silent_p.L401L NM_001278689.1 NP_001265618.1 EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase GGTGCTCCCCCAGGGTTGGAT 0.448000 3 35 0 0 1 0 0 ELF4 2000 broad.mit.edu 37 X 129201223 129201223 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:129201223G>T ENST00000308167.5 - 9 1844 c.1465C>A c.(1465-1467)Ctt>Att p.L489I ELF4_ENST00000335997.7_Missense_Mutation_p.L489I NM_001421.3 NP_001412.1 Q99607 ELF4_HUMAN E74-like factor 4 (ets domain transcription factor) 489 natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 22 CCAGCCAGAAGTTGGGGGAGG 0.657000 T ERG AML 3 16 0.004672 0.00507046 1 1 0 BCL9 607 broad.mit.edu 37 1 147095648 147095648 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:147095648G>A ENST00000234739.3 + 10 3909 c.3169G>A c.(3169-3171)Ggc>Agc p.G1057S NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 1057 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) TCTAGGAATGGGCATTAATAC 0.383000 T """IGH@, IGL@""" B-ALL 4 398 0 0 1 0 0 KCNG4 93107 broad.mit.edu 37 16 84270906 84270906 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:84270906C>T ENST00000568181.1 - 2 306 c.186G>A c.(184-186)ctG>ctA p.L62L KCNG4_ENST00000308251.4_Silent_p.L62L Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 62 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 CCACGTTGATCAGGATCTCCT 0.642000 40 206 0 0 1 0 0 TCOF1 6949 broad.mit.edu 37 5 149755343 149755343 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:149755343C>T ENST00000451292.1 + 12 1872 c.1764C>T c.(1762-1764)ccC>ccT p.P588P TCOF1_ENST00000445265.2_Silent_p.P511P|TCOF1_ENST00000377797.3_Silent_p.P588P|TCOF1_ENST00000439160.2_Silent_p.P588P|TCOF1_ENST00000513346.1_Silent_p.P588P|TCOF1_ENST00000323668.7_Silent_p.P511P|TCOF1_ENST00000504761.2_Silent_p.P588P|TCOF1_ENST00000394269.3_Silent_p.P588P Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 588 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAAGGGGCCCCCTCAGAAGG 0.612000 9 71 0 0 1 0 0 DGKA 1606 broad.mit.edu 37 12 56347133 56347133 + Splice_Site SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:56347133G>T ENST00000331886.5 + 23 2517 c.e23-1 DGKA_ENST00000394147.1_Splice_Site|DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000549079.2_Splice_Site NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) GCCTCCTATAGCACCACAAAA 0.458000 6 838 0.000602214 0.000670738 1 1 0 LMO1 4004 broad.mit.edu 37 11 8248620 8248620 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:8248620A>G ENST00000335790.3 - 3 762 c.267T>C c.(265-267)gcT>gcC p.A89A LMO1_ENST00000534484.1_Silent_p.A78A|LMO1_ENST00000428101.2_Silent_p.A88A NM_002315.2 NP_002306.1 P25800 RBTN1_HUMAN LIM domain only 1 (rhombotin 1) 89 LIM zinc-binding 2. cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1) 5 Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203) TGCTGCAAGCAGCACAGTTCC 0.617000 """T, A""" TRD@ """T-ALL, neuroblastoma""" neuroblastoma 10 1178 0 0 1 0 0 BAG6 7917 broad.mit.edu 37 6 31612763 31612763 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:31612763C>T ENST00000404765.2 - 10 1618 c.1329G>A c.(1327-1329)caG>caA p.Q443Q BAG6_ENST00000211379.5_Silent_p.Q443Q|BAG6_ENST00000375976.4_Silent_p.Q443Q|BAG6_ENST00000362049.6_Silent_p.Q443Q|BAG6_ENST00000439687.2_Silent_p.Q443Q|BAG6_ENST00000375964.6_Silent_p.Q449Q P46379 BAG6_HUMAN BCL2-associated athanogene 6 449 4 X 29 AA approximate repeats.|Pro-rich. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding p.Q443Q(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 GTTCCACACTCTGGTGGGAAA 0.587000 5 322 0 0 1 0 0 OR52K2 119774 broad.mit.edu 37 11 4471128 4471128 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:4471128G>A ENST00000325719.4 + 1 604 c.559G>A c.(559-561)Gtg>Atg p.V187M NM_001005172.2 NP_001005172.2 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, member 2 187 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) CATGGCTGTGGTGAGGCTGGC 0.522000 5 400 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102496167 102496167 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:102496167G>A ENST00000360184.4 + 50 9818 c.9654G>A c.(9652-9654)ctG>ctA p.L3218L NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3218 Stalk (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TAGAAGAACTGCGTCGTGACT 0.483000 10 989 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 228396 228396 + Missense_Mutation SNP G G C rs1041946 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:228396G>C ENST00000264932.6 + 6 833 c.718G>C c.(718-720)Gag>Cag p.E240Q SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q|SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 240 E -> Q (in dbSNP:rs1041946). nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity p.E240Q(2) NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) ACTGTGCATAGAGGACGGGTC 0.418000 Familial Paragangliomas 4 98 0 0 1 0 0 FOLR2 2350 broad.mit.edu 37 11 71929729 71929729 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:71929729C>T ENST00000449475.2 + 2 450 c.152C>T c.(151-153)gCc>gTc p.A51V FOLR2_ENST00000298223.6_Missense_Mutation_p.A34V|FOLR2_ENST00000454954.2_Intron P14207 FOLR2_HUMAN folate receptor 2 (fetal) 34 folic acid transport anchored to membrane|extracellular region|membrane fraction|plasma membrane folic acid binding|receptor activity breast(3)|large_intestine(3)|ovary(1)|skin(1) 8 Folic Acid(DB00158) TGTATGGATGCCAAGCACCAC 0.542000 4 203 0 0 1 0 0 ZNF75D 7626 broad.mit.edu 37 X 134427961 134427961 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:134427961A>T ENST00000370766.3 - 3 2815 c.106T>A c.(106-108)Tac>Aac p.Y36N ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.Y36N NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 36 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 TTTGTGCTGTATTTCTTACTC 0.507000 8 783 0 0 1 0 0 USP31 57478 broad.mit.edu 37 16 23080103 23080103 + Missense_Mutation SNP G G A rs148627286 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:23080103G>A ENST00000219689.7 - 16 3322 c.3323C>T c.(3322-3324)tCa>tTa p.S1108L USP31_ENST00000567975.1_Missense_Mutation_p.S401L NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 1108 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) CGAAGGAGATGACACGGAGTC 0.582000 7 363 0 0 1 0 0 SUSD5 26032 broad.mit.edu 37 3 33195040 33195040 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:33195040C>A ENST00000309558.3 - 5 1501 c.1084G>T c.(1084-1086)Gtg>Ttg p.V362L NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 362 cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CTGCTCACCACTGGATCTCCT 0.552000 12 384 9.31168e-06 1.10739e-05 1 1 0 AKAP9 10142 broad.mit.edu 37 7 91735015 91735015 + Nonsense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:91735015G>A ENST00000359028.2 + 47 11591 c.11366G>A c.(11365-11367)tGg>tAg p.W3789* AKAP9_ENST00000358100.2_Nonsense_Mutation_p.W3735*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.W3785* Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3789 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus 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) GTTCGACGGTGGCATCGAGTC 0.333000 T BRAF papillary thyroid 64 86 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73150893 73150893 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:73150893T>C ENST00000377110.2 - 25 5343 c.5100A>G c.(5098-5100)caA>caG p.Q1700Q TRPM3_ENST00000396292.4_Silent_p.Q1572Q|TRPM3_ENST00000357533.2_Silent_p.Q1704Q|TRPM3_ENST00000360823.2_Silent_p.Q1562Q|TRPM3_ENST00000358082.3_Silent_p.Q1562Q|TRPM3_ENST00000396280.5_Silent_p.Q1549Q|TRPM3_ENST00000377105.1_Silent_p.Q1559Q|TRPM3_ENST00000377106.1_Silent_p.Q1572Q|TRPM3_ENST00000408909.2_Silent_p.Q1559Q|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000423814.3_Silent_p.Q1727Q|TRPM3_ENST00000396285.1_Silent_p.Q1559Q NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1725 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 TTTCAAAGCTTTGGAAAGCCG 0.507000 3 128 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19665832 19665832 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:19665832G>A ENST00000328041.6 + 12 1348 c.1151G>A c.(1150-1152)gGg>gAg p.G384E NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 384 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GTGGAGAATGGGACAGGGCCC 0.522000 4 161 0 0 1 0 0 MSLNL 401827 broad.mit.edu 37 16 830490 830490 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:830490G>A ENST00000293892.3 - 3 510 c.511C>T c.(511-513)Cgc>Tgc p.R171C MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane p.R171S(1) 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 GGATGCGTGCGGGCACGCATG 0.547000 19 5273 0 0 1 0 0 PTRHD1 391356 broad.mit.edu 37 2 25013321 25013321 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:25013321C>A ENST00000328379.4 - 2 386 c.382G>T c.(382-384)Gaa>Taa p.E128* PTRHD1_ENST00000487316.1_5'UTR NM_001013663.1 NP_001013685.1 Q6GMV3 PTRD1_HUMAN peptidyl-tRNA hydrolase domain containing 1 128 translation aminoacyl-tRNA hydrolase activity|protein tyrosine phosphatase activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|skin(1) 6 TGGCCCACTTCTTCCTTGGGG 0.493000 14 147 1.5739e-10 2.04888e-10 1 1 0 ATP6V0D1 9114 broad.mit.edu 37 16 67472930 67472930 + Nonsense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:67472930G>A ENST00000290949.3 - 6 910 c.760C>T c.(760-762)Cag>Tag p.Q254* ATP6V0D1_ENST00000567694.1_5'UTR|ATP6V0D1_ENST00000540149.1_Nonsense_Mutation_p.Q295*|ATP6V0D1_ENST00000602876.1_Nonsense_Mutation_p.Q177* NM_004691.4 NP_004682.2 P61421 VA0D1_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 254 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex large_intestine(3)|lung(3)|urinary_tract(2) 8 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101) CGAGCCAGCTGCGCCAGGCCC 0.587000 6 309 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26856137 26856137 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:26856137C>G ENST00000226247.2 + 4 754 c.725C>G c.(724-726)cCc>cGc p.P242R FOXN1_ENST00000579795.1_Missense_Mutation_p.P242R NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 242 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) GGCAGCTACCCCATACCCTAC 0.582000 7 290 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133372453 133372453 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:133372453A>G ENST00000204726.3 - 11 3012 c.2454T>C c.(2452-2454)gcT>gcC p.A818A GOLGA3_ENST00000537452.1_Silent_p.A818A|GOLGA3_ENST00000456883.2_Silent_p.A818A|GOLGA3_ENST00000450791.2_Silent_p.A818A|GOLGA3_ENST00000545875.1_Silent_p.A818A NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 818 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CGGATTTGATAGCTAATTCTT 0.433000 4 263 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3214646 3214646 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:3214646G>A ENST00000380059.3 - 6 756 c.655C>T c.(655-657)Cac>Tac p.H219Y SLC4A11_ENST00000539553.1_Missense_Mutation_p.H176Y|SLC4A11_ENST00000380056.3_Missense_Mutation_p.H192Y|SLC4A11_ENST00000474451.1_5'UTR NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 192 cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GACAGCAGGTGGACTGAGGAA 0.652000 4 62 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 179974674 179974674 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:179974674G>A ENST00000428443.3 - 18 2359 c.2043C>T c.(2041-2043)ctC>ctT p.L681L NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 681 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) GCTGCCTTTTGAGATTAACTA 0.418000 4 127 0 0 1 0 0 AKR1B10 57016 broad.mit.edu 37 7 134217801 134217801 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:134217801G>A ENST00000359579.4 + 4 717 c.397G>A c.(397-399)Ggt>Agt p.G133S AKR1B10_ENST00000475559.1_3'UTR NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 133 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 TAATGCCATCGGTGGAAAAGC 0.463000 8 1049 0 0 1 0 0 SLC20A1 6574 broad.mit.edu 37 2 113417337 113417337 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:113417337A>G ENST00000272542.3 + 8 2144 c.1605A>G c.(1603-1605)gtA>gtG p.V535V NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 535 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 GCAATGACGTAAGGTCAGTTG 0.458000 3 172 0 0 1 0 0 SERINC1 57515 broad.mit.edu 37 6 122774917 122774917 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:122774917G>T ENST00000368454.1 - 7 916 c.587C>A c.(586-588)gCa>gAa p.A196E SERINC1_ENST00000339697.3_Missense_Mutation_p.A196E Q9NRX5 SERC1_HUMAN serine incorporator 1 196 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1) 13 GBM - Glioblastoma multiforme(226;0.126) AAGCTTACCTGCATACCAACA 0.368000 33 231 3.93418e-24 5.47131e-24 1 1 0 ASIC1 41 broad.mit.edu 37 12 50472314 50472314 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:50472314G>A ENST00000228468.4 + 6 1333 c.948G>A c.(946-948)acG>acA p.T316T ASIC1_ENST00000552438.1_Silent_p.T350T|ASIC1_ENST00000447966.2_Silent_p.T316T NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 316 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) ACTGTGAGACGCGCTACCTGG 0.612000 13 920 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101295457 101295457 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:101295457G>A ENST00000538618.1 + 4 392 c.392G>A c.(391-393)cGt>cAt p.R131H ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000551148.1_3'UTR|ANO4_ENST00000299222.9_5'UTR Q32M45 ANO4_HUMAN anoctamin 4 0 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 GCTGAAAAGCGTTTGCAAATC 0.507000 HNSCC(74;0.22) 20 184 0 0 1 0 0 ZNF740 283337 broad.mit.edu 37 12 53580224 53580224 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:53580224G>T ENST00000416904.3 + 6 868 c.423G>T c.(421-423)aaG>aaT p.K141N NM_001004304.3 NP_001004304.1 Q8NDX6 ZN740_HUMAN zinc finger protein 740 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(2) 3 TCATCCAGAAGTACCACCTGG 0.502000 19 52 1.96292e-10 2.54231e-10 1 1 0 CUX2 23316 broad.mit.edu 37 12 111776090 111776090 + Splice_Site SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:111776090G>A ENST00000261726.6 + 20 3351 c.3196_splice c.e20-1 p.G1066_splice NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1066 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CTATCCCCAGGGCAGCGGCTG 0.622000 13 28 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7691473 7691473 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:7691473A>G ENST00000572933.1 + 44 8271 c.6811A>G c.(6811-6813)Aac>Gac p.N2271D DNAH2_ENST00000389173.2_Missense_Mutation_p.N2271D Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2271 AAA 2 (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) TAAGAAGGACAACTGCAAGGA 0.557000 10 327 0 0 1 0 0 ZNF461 92283 broad.mit.edu 37 19 37130712 37130712 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:37130712T>A ENST00000588268.1 - 6 762 c.535A>T c.(535-537)Act>Tct p.T179S ZNF461_ENST00000360357.4_Missense_Mutation_p.T156S|ZNF461_ENST00000540605.2_5'UTR NM_153257.2 NP_694989.2 Q8TAF7 ZN461_HUMAN zinc finger protein 461 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GTGAGTAAAGTATGTTGGCTA 0.333000 5 252 0 0 1 0 0 ANKRD52 283373 broad.mit.edu 37 12 56638938 56638938 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:56638938C>G ENST00000267116.7 - 22 2562 c.2441G>C c.(2440-2442)aGc>aCc p.S814T NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 814 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 CGAAAACGGGCTGTGTTCAAG 0.522000 12 920 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43707823 43707823 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:43707823C>T ENST00000263801.3 - 23 5295 c.5043G>A c.(5041-5043)aaG>aaA p.K1681K TP53BP1_ENST00000450115.2_Silent_p.K1686K|TP53BP1_ENST00000382039.3_Silent_p.K1636K|TP53BP1_ENST00000382044.4_Silent_p.K1686K NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 1681 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TGCGACCTCGCTTGGCAGGGG 0.507000 Other conserved DNA damage response genes 4 435 0 0 1 0 0 MGST1 4257 broad.mit.edu 37 12 16516801 16516801 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:16516801C>T ENST00000396209.1 + 4 437 c.294C>T c.(292-294)ccC>ccT p.P98P MGST1_ENST00000396210.3_Silent_p.P98P|MGST1_ENST00000010404.2_Silent_p.P98P|MGST1_ENST00000540056.1_3'UTR|MGST1_ENST00000535309.1_Intron|MGST1_ENST00000396207.1_Silent_p.P98P NM_145791.2 NP_665734.1 P10620 MGST1_HUMAN microsomal glutathione S-transferase 1 98 protein homotrimerization|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane glutathione transferase activity p.P98P(1) endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Hepatocellular(102;0.121) Glutathione(DB00143) TGAGTGGTCCCGACCCCTCTA 0.453000 4 246 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32145408 32145408 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:32145408C>A ENST00000312561.4 + 6 5597 c.5183C>A c.(5182-5184)aCc>aAc p.T1728N KIAA1551_ENST00000535596.1_3'UTR NM_018169.3 NP_060639.3 KIAA1551 ATGTTTCAAACCTACAAACAG 0.368000 20 204 0.014323 0.0153482 1 1 0 FCHSD1 89848 broad.mit.edu 37 5 141026213 141026213 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:141026213C>T ENST00000435817.2 - 11 1051 c.1001G>A c.(1000-1002)aGc>aAc p.S334N FCHSD1_ENST00000522126.1_Missense_Mutation_p.S258N|FCHSD1_ENST00000522783.1_Missense_Mutation_p.S332N|FCHSD1_ENST00000523856.1_5'UTR NM_033449.2 NP_258260.1 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 334 p.S334I(1) FCHSD1/BRAF(2) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCAGCTCGGCTGGTCAAGCG 0.602000 5 16 0 0 1 0 0 SCMH1 22955 broad.mit.edu 37 1 41579133 41579133 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:41579133C>A ENST00000402904.2 - 8 905 c.537G>T c.(535-537)aaG>aaT p.K179N SCMH1_ENST00000361191.5_Missense_Mutation_p.K118N|SCMH1_ENST00000397171.2_Missense_Mutation_p.K118N|SCMH1_ENST00000361705.3_Missense_Mutation_p.K132N|SCMH1_ENST00000397174.2_Missense_Mutation_p.K159N|SCMH1_ENST00000372597.1_Missense_Mutation_p.K132N|SCMH1_ENST00000337495.5_Missense_Mutation_p.K189N|SCMH1_ENST00000326197.7_Missense_Mutation_p.K179N|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372595.1_Missense_Mutation_p.K118N|SCMH1_ENST00000372596.1_Missense_Mutation_p.K118N NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 179 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) AATGAGGGTTCTTCCTGTCCA 0.512000 6 62 0.0215528 0.022713 1 1 0 SHROOM3 57619 broad.mit.edu 37 4 77652058 77652058 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:77652058G>A ENST00000296043.6 + 4 1510 c.557G>A c.(556-558)gGc>gAc p.G186D SHROOM3_ENST00000473602.1_3'UTR NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 186 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GGTATGATCGGCCCTCCTTGG 0.498000 6 441 0 0 1 0 0 AXIN1 8312 broad.mit.edu 37 16 347159 347159 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:347159C>A ENST00000262320.3 - 7 2223 c.1852G>T c.(1852-1854)Gag>Tag p.E618* AXIN1_ENST00000354866.3_Nonsense_Mutation_p.E618* NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 618 Interaction with PPP2CA.|Interaction with RNF111. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CCTGGCACCTCGGTGCTGGCG 0.612000 4 112 1 1 1 1 0 WBP11P1 441818 broad.mit.edu 37 18 30092540 30092540 + RNA SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr18:30092540G>A ENST00000567636.1 + 0 915 NR_003558.1 GCCCAGCGAGGTCATGATGAT 0.488000 12 500 0 0 1 0 0 OR9G4 283189 broad.mit.edu 37 11 56510859 56510859 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:56510859G>A ENST00000302957.3 - 1 428 c.429C>T c.(427-429)aaC>aaT p.N143N NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 AAAGCAATGGGTTACAAATTG 0.498000 40 217 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125514252 125514252 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:125514252C>A ENST00000241305.3 - 13 2098 c.1944G>T c.(1942-1944)gtG>gtT p.V648V CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 648 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) GTGAATCTCTCACCAAGCCTT 0.498000 8 223 0.00621372 0.00672932 1 1 0 PGLYRP4 57115 broad.mit.edu 37 1 153314103 153314103 + Splice_Site SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:153314103C>A ENST00000368739.3 - 6 971 c.613_splice c.e6+1 p.A205_splice PGLYRP4_ENST00000359650.5_Splice_Site_p.A209_splice Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 209 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AAGGTCTTACCCTTCTTCAGG 0.542000 6 287 3.59834e-05 4.14379e-05 1 1 0 RBM19 9904 broad.mit.edu 37 12 114385216 114385216 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:114385216C>A ENST00000545145.2 - 11 1408 c.1330G>T c.(1330-1332)Ggt>Tgt p.G444C RBM19_ENST00000392561.3_Missense_Mutation_p.G444C|RBM19_ENST00000261741.5_Missense_Mutation_p.G444C NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 444 RRM 3. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) AATGCAAAACCCTTGGGTTTC 0.602000 19 99 4.35082e-09 5.52261e-09 1 1 0 C2orf42 54980 broad.mit.edu 37 2 70396783 70396783 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:70396783C>A ENST00000264434.2 - 6 1429 c.1050G>T c.(1048-1050)caG>caT p.Q350H C2orf42_ENST00000420306.1_Missense_Mutation_p.Q350H NM_017880.1 NP_060350.1 Q9NWW7 CB042_HUMAN chromosome 2 open reading frame 42 350 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 CATCTAACAGCTGACCACAGG 0.388000 3 39 0.115264 0.119247 1 1 0 C6 729 broad.mit.edu 37 5 41149560 41149560 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:41149560C>T ENST00000263413.3 - 17 2670 c.2406G>A c.(2404-2406)gtG>gtA p.V802V C6_ENST00000337836.5_Silent_p.V802V NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 802 C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTGTGTCAAACACACAGAGAT 0.398000 6 317 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82416143 82416143 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:82416143G>T ENST00000370728.1 + 9 2114 c.1469G>T c.(1468-1470)cGa>cTa p.R490L LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370727.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370721.1_Missense_Mutation_p.R428L|LPHN2_ENST00000271029.4_Missense_Mutation_p.R490L|LPHN2_ENST00000370717.2_Missense_Mutation_p.R490L|LPHN2_ENST00000319517.6_Missense_Mutation_p.R490L|LPHN2_ENST00000335786.5_Missense_Mutation_p.R490L|LPHN2_ENST00000370730.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370725.1_Missense_Mutation_p.R490L|LPHN2_ENST00000359929.3_Missense_Mutation_p.R490L|LPHN2_ENST00000394879.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370715.1_Missense_Mutation_p.R490L|LPHN2_ENST00000370713.1_Missense_Mutation_p.R490L O95490 LPHN2_HUMAN latrophilin 2 490 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ATGGTTGAACGACCATGCCCT 0.383000 21 136 6.12954e-19 8.38692e-19 1 1 0 GCOM1 145781 broad.mit.edu 37 15 57921931 57921931 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:57921931G>A ENST00000574161.1 + 6 676 c.557G>A c.(556-558)aGc>aAc p.S186N GCOM1_ENST00000380568.3_Missense_Mutation_p.S186N|GCOM1_ENST00000380569.2_Missense_Mutation_p.S186N|GCOM1_ENST00000572390.1_Missense_Mutation_p.S186N|GCOM1_ENST00000587652.1_Missense_Mutation_p.S186N|GCOM1_ENST00000396180.1_Missense_Mutation_p.S155N|MYZAP_ENST00000380565.4_Missense_Mutation_p.S186N|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380560.2_Missense_Mutation_p.S117N|GCOM1_ENST00000380561.2_Missense_Mutation_p.S155N|MYZAP_ENST00000267853.5_Missense_Mutation_p.S186N NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 186 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 TTGGAAAACAGCAACATTAAG 0.458000 7 697 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111697676 111697676 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:111697676G>T ENST00000435970.1 - 15 2464 c.1648C>A c.(1648-1650)Cct>Act p.P550T REV3L_ENST00000368802.3_Missense_Mutation_p.P628T|REV3L_ENST00000358835.3_Missense_Mutation_p.P628T|REV3L_ENST00000368805.1_Missense_Mutation_p.P628T O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 628 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AAAGATCCAGGGTATTTCATA 0.323000 DNA polymerases (catalytic subunits) 4 50 0.217242 0.220711 1 1 0 MUC16 94025 broad.mit.edu 37 19 9088165 9088165 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:9088165A>T ENST00000397910.4 - 1 3853 c.3650T>A c.(3649-3651)cTg>cAg p.L1217Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1217 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 CAAGGGAACCAGGGTGCTTTT 0.502000 7 874 0 0 1 0 0 ZBTB22 9278 broad.mit.edu 37 6 33283506 33283506 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:33283506A>G ENST00000431845.2 - 2 1339 c.1188T>C c.(1186-1188)ctT>ctC p.L396L ZBTB22_ENST00000418724.1_Silent_p.L396L NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 CTGAGTCATCAAGACCTGCCA 0.612000 8 424 0 0 1 0 0 APOL6 80830 broad.mit.edu 37 22 36054744 36054744 + Nonsense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr22:36054744G>T ENST00000409652.3 + 3 409 c.133G>T c.(133-135)Gaa>Taa p.E45* NM_030641.3 NP_085144.1 Q9BWW8 APOL6_HUMAN apolipoprotein L, 6 45 lipoprotein metabolic process cytoplasm|extracellular region lipid binding|lipid transporter activity haematopoietic_and_lymphoid_tissue(1)|lung(4) 5 ATTTTTGAGAGAATTTCCCAG 0.443000 9 49 1.12685e-05 1.33699e-05 1 1 0 OR7G3 390883 broad.mit.edu 37 19 9237454 9237454 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:9237454G>A ENST00000305444.2 - 1 172 c.173C>T c.(172-174)cCc>cTc p.P58L NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 GAAGTACATGGGGGTGTGGAG 0.557000 4 356 0 0 1 0 0 DALRD3 55152 broad.mit.edu 37 3 49054074 49054074 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:49054074G>A ENST00000440857.1 - 8 1235 c.533C>T c.(532-534)gCa>gTa p.A178V DALRD3_ENST00000441576.2_Missense_Mutation_p.A345V|DALRD3_ENST00000395462.4_Missense_Mutation_p.A178V|DALRD3_ENST00000313778.5_Missense_Mutation_p.A178V|DALRD3_ENST00000341949.4_Missense_Mutation_p.A345V Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 345 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) ATGCTTCAGTGCTGAGGCCTT 0.587000 7 100 0 0 1 0 0 ITCH 83737 broad.mit.edu 37 20 33000357 33000357 + Silent SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:33000357G>T ENST00000374864.4 + 5 462 c.249G>T c.(247-249)gtG>gtT p.V83V ITCH_ENST00000535650.1_5'UTR|ITCH_ENST00000262650.6_Silent_p.V83V NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 83 C2. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 ATTTTCGTGTGTGGAGTCACC 0.303000 8 59 9.05144e-12 1.19049e-11 1 1 0 L1TD1 54596 broad.mit.edu 37 1 62675572 62675572 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:62675572A>T ENST00000498273.1 + 4 1421 c.1126A>T c.(1126-1128)Act>Tct p.T376S NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 376 Glu-rich. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 AAACTTAGAGACTCAAGAGGA 0.463000 3 63 0 0 1 0 0 ST3GAL2 6483 broad.mit.edu 37 16 70422317 70422317 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:70422317C>T ENST00000393640.4 - 3 2773 c.666G>A c.(664-666)ctG>ctA p.L222L RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.L222L Q16842 SIA4B_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 2 222 amino sugar metabolic process extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1) 11 Ovarian(137;0.0694) ACAGAAGGTCCAGGACCTTGA 0.582000 4 300 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11726270 11726270 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:11726270G>A ENST00000262442.3 + 48 9233 c.9165G>A c.(9163-9165)ttG>ttA p.L3055L DNAH9_ENST00000454412.2_Silent_p.L3055L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3055 Stalk (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGAGCTTGTTGCACAGGCACA 0.512000 4 107 0 0 1 0 0 GPRC5B 51704 broad.mit.edu 37 16 19884089 19884089 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:19884089C>G ENST00000300571.2 - 2 270 c.79G>C c.(79-81)Gcc>Ccc p.A27P GPRC5B_ENST00000535671.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A27P|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A53P|GPRC5B_ENST00000569847.1_Missense_Mutation_p.A27P NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 27 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 TTTTCAGAGGCCACCGAGGTG 0.577000 3 78 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45749891 45749891 + Silent SNP G G A rs71313004 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr22:45749891G>A ENST00000357450.4 - 21 3239 c.3240C>T c.(3238-3240)atC>atT p.I1080I SMC1B_ENST00000404354.3_Silent_p.I1080I NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 1080 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GCTTCTTGTAGATTTGATCAA 0.398000 14 146 0 0 1 0 0 CCDC113 29070 broad.mit.edu 37 16 58301427 58301427 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:58301427G>T ENST00000219299.4 + 7 907 c.828G>T c.(826-828)aaG>aaT p.K276N CCDC113_ENST00000443128.2_Missense_Mutation_p.K222N NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 276 protein complex large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 ATCTGGACAAGGAGATCTTGC 0.398000 9 136 3.86212e-05 4.42752e-05 1 1 0 TLR4 7099 broad.mit.edu 37 9 120470993 120470993 + Silent SNP G G A rs78293159 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:120470993G>A ENST00000355622.6 + 2 347 c.246G>A c.(244-246)gtG>gtA p.V82V TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Silent_p.V42V NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 82 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 AACTGCAGGTGCTGGATTTAT 0.458000 55 361 0 0 1 0 0 ETV7 51513 broad.mit.edu 37 6 36353326 36353326 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:36353326G>A ENST00000373738.1 - 2 972 c.127C>T c.(127-129)Ctg>Ttg p.L43L ETV7_ENST00000340181.4_Silent_p.L43L|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000373737.4_Silent_p.L43L|ETV7_ENST00000339796.5_Silent_p.L43L NM_001207036.1 NP_001193965.1 Q9Y603 ETV7_HUMAN ets variant 7 43 PNT. organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 CTTCCTGGCAGCTTGCAGATC 0.483000 4 382 0 0 1 0 0 SETX 23064 broad.mit.edu 37 9 135153480 135153480 + Nonsense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:135153480A>T ENST00000372169.2 - 21 7001 c.6819T>A c.(6817-6819)taT>taA p.Y2273* SETX_ENST00000393220.1_Nonsense_Mutation_p.Y2273*|SETX_ENST00000224140.5_Nonsense_Mutation_p.Y2273* Q7Z333 SETX_HUMAN senataxin 2273 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) AGTTTCTGTTATAAACATAAT 0.368000 5 145 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36069652 36069652 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:36069652A>G ENST00000303965.4 - 33 5481 c.4992T>C c.(4990-4992)aaT>aaC p.N1664N NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1664 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TAGCTTTGCTATTCCTGTCCT 0.448000 8 372 0 0 1 0 0 AP5M1 55745 broad.mit.edu 37 14 57741171 57741171 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:57741171C>T ENST00000261558.3 + 2 690 c.284C>T c.(283-285)cCa>cTa p.P95L AP5M1_ENST00000431972.2_Missense_Mutation_p.P109L NM_018229.3 NP_060699.3 Q9H0R1 MUDEN_HUMAN adaptor-related protein complex 5, mu 1 subunit 95 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex GAACTCTGGCCAGTTGTTGCT 0.423000 3 74 0 0 1 0 0 TRMT12 55039 broad.mit.edu 37 8 125463612 125463612 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:125463612C>G ENST00000328599.3 + 1 565 c.444C>G c.(442-444)ttC>ttG p.F148L TRMT12_ENST00000521443.1_Intron NM_017956.3 NP_060426.2 Q53H54 TYW2_HUMAN tRNA methyltransferase 12 homolog (S. cerevisiae) 148 tRNA processing methyltransferase activity breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) AAGACTGTTTCCAAGCCAAGC 0.567000 6 72 0 0 1 0 0 FGD4 121512 broad.mit.edu 37 12 32777354 32777354 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:32777354A>T ENST00000427716.2 + 12 1935 c.e12-1 FGD4_ENST00000381025.3_Splice_Site|FGD4_ENST00000266482.3_Splice_Site|FGD4_ENST00000546442.1_Splice_Site|FGD4_ENST00000531134.1_Splice_Site|FGD4_ENST00000525053.1_Splice_Site|FGD4_ENST00000534526.2_Splice_Site NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) GTTTTATTTTAGTTCTGCGCA 0.333000 4 82 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141336357 141336357 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:141336357C>T ENST00000231484.3 - 1 2270 c.1060G>A c.(1060-1062)Gtc>Atc p.V354I NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 354 neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCATGTGACGTGGATGCTT 0.507000 5 350 0 0 1 0 0 DHX30 22907 broad.mit.edu 37 3 47887919 47887919 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:47887919G>T ENST00000446256.2 + 12 1812 c.1240G>T c.(1240-1242)Gtg>Ttg p.V414L DHX30_ENST00000457607.1_Missense_Mutation_p.V481L|DHX30_ENST00000348968.4_Missense_Mutation_p.V425L|DHX30_ENST00000445061.1_Missense_Mutation_p.V453L NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 453 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GCACCCGGTGGTGGTCATCTC 0.672000 4 128 0.184627 0.188705 1 1 0 PLXNB3 5365 broad.mit.edu 37 X 153036318 153036318 + Silent SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:153036318C>A ENST00000538966.1 + 12 2456 c.2185C>A c.(2185-2187)Cgg>Agg p.R729R PLXNB3_ENST00000538776.1_Silent_p.R359R|PLXNB3_ENST00000538282.1_Silent_p.R316R|PLXNB3_ENST00000361971.5_Silent_p.R706R|PLXNB3_ENST00000538543.1_Intron NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 706 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CCTACGCGTGCGGAACCTTCA 0.642000 4 7 0.184627 0.188705 1 1 0 C14orf93 60686 broad.mit.edu 37 14 23468012 23468012 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:23468012C>T ENST00000299088.6 - 2 650 c.221G>A c.(220-222)gGt>gAt p.G74D C14orf93_ENST00000397379.3_Missense_Mutation_p.G74D|C14orf93_ENST00000341470.4_Missense_Mutation_p.G74D|C14orf93_ENST00000397382.4_Missense_Mutation_p.G74D|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000406429.2_Missense_Mutation_p.G74D|RP11-298I3.4_ENST00000556503.1_RNA NM_001130708.1|NM_021944.2 NP_001124180.1|NP_068763.2 Q9H972 CN093_HUMAN chromosome 14 open reading frame 93 74 extracellular region kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 17 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0127) TTCAGCCAAACCCACTGCCTT 0.557000 157 57 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16173246 16173246 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:16173246G>T ENST00000399408.2 + 16 2201 c.2026G>T c.(2026-2028)Gtg>Ttg p.V676L ABCC1_ENST00000349029.5_Missense_Mutation_p.V676L|ABCC1_ENST00000346370.5_Missense_Mutation_p.V676L|ABCC1_ENST00000399410.3_Missense_Mutation_p.V676L|ABCC1_ENST00000351154.5_Missense_Mutation_p.V676L|ABCC1_ENST00000345148.5_Missense_Mutation_p.V676L P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 676 ABC transporter 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TTTGGTGGCCGTGGTGGGCCA 0.602000 17 572 9.95505e-16 1.33697e-15 1 1 0 WHSC1 7468 broad.mit.edu 37 4 1902443 1902443 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:1902443T>A ENST00000503128.1 + 2 269 c.62T>A c.(61-63)aTg>aAg p.M21K WHSC1_ENST00000382891.5_Missense_Mutation_p.M21K|WHSC1_ENST00000436793.1_Missense_Mutation_p.M21K|WHSC1_ENST00000382892.2_Missense_Mutation_p.M21K|WHSC1_ENST00000382895.3_Missense_Mutation_p.M21K|WHSC1_ENST00000508803.1_Missense_Mutation_p.M21K|WHSC1_ENST00000420906.2_Missense_Mutation_p.M21K|WHSC1_ENST00000514045.1_Missense_Mutation_p.M21K|WHSC1_ENST00000398261.1_Missense_Mutation_p.M21K O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 21 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 48 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) TGCATAAAGATGAAGCAGGCA 0.507000 T IGH@ MM 6 176 0 0 1 0 0 ADCY3 109 broad.mit.edu 37 2 25050925 25050925 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:25050925G>T ENST00000260600.5 - 13 3129 c.2278C>A c.(2278-2280)Ctg>Atg p.L760M ADCY3_ENST00000405392.1_Intron|ADCY3_ENST00000450524.1_5'UTR NM_004036.3 NP_004027.2 O60266 ADCY3_HUMAN adenylate cyclase 3 760 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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2) 44 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) ATGAGGGACAGCACGGCCACA 0.592000 OREG0014498 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 77 5.3912e-06 6.45676e-06 1 1 0 MYO1E 4643 broad.mit.edu 37 15 59519787 59519787 + Silent SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:59519787T>C ENST00000288235.4 - 7 912 c.513A>G c.(511-513)ggA>ggG p.G171G MYO1E_ENST00000558814.1_5'UTR NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 171 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) CAAAGTATTTTCCCTGCAAGA 0.408000 8 766 0 0 1 0 0 SPOCD1 90853 broad.mit.edu 37 1 32262283 32262283 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:32262283G>A ENST00000360482.2 - 10 2308 c.2179C>T c.(2179-2181)Ccg>Tcg p.P727S SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.P220S|SPOCD1_ENST00000533231.1_Missense_Mutation_p.P727S NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 727 TFIIS central. transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) AGTCTGCACGGCTCCTTCTGT 0.562000 29 46 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149907008 149907008 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:149907008G>A ENST00000439741.2 - 5 589 c.339C>T c.(337-339)tcC>tcT p.S113S MTMR11_ENST00000406732.3_Silent_p.S85S|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Silent_p.S113S|MTMR11_ENST00000369140.3_Silent_p.S41S NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 113 phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GCTGGACTCGGGACAAGCCGC 0.547000 4 117 0 0 1 0 0 C1orf50 79078 broad.mit.edu 37 1 43240464 43240464 + Silent SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:43240464G>T ENST00000372525.5 + 4 382 c.339G>T c.(337-339)gtG>gtT p.V113V C1orf50_ENST00000536543.1_5'UTR|C1orf50_ENST00000468913.2_3'UTR NM_024097.3 NP_077002.2 Q9BV19 CA050_HUMAN chromosome 1 open reading frame 50 113 large_intestine(2)|ovary(1)|pancreas(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GTAATATAGTGAAAAAACCTG 0.378000 4 148 2.56e-06 3.07321e-06 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152708494 152708494 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:152708494G>T ENST00000367255.5 - 54 8801 c.8200C>A c.(8200-8202)Caa>Aaa p.Q2734K SYNE1_ENST00000448038.1_Missense_Mutation_p.Q2741K|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q2734K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q2741K|SYNE1_ENST00000341594.5_Missense_Mutation_p.Q2773K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 2734 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCATTCCATTGGCTAATCACA 0.368000 HNSCC(10;0.0054) 5 219 0.00116845 0.00129573 1 1 0 ATP10B 23120 broad.mit.edu 37 5 160061536 160061536 + Silent SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:160061536A>G ENST00000327245.5 - 12 2052 c.1206T>C c.(1204-1206)ctT>ctC p.L402L CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 402 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) CATACAGGTCAAGGTCATTGC 0.478000 5 502 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57567703 57567703 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:57567703G>A ENST00000243077.3 + 22 3953 c.3487G>A c.(3487-3489)Gac>Aac p.D1163N NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1163 LDL-receptor class A 10. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|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) CCTGCCCCCTGACAAGCTGTG 0.632000 4 89 0 0 1 0 0 RCSD1 92241 broad.mit.edu 37 1 167653164 167653164 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:167653164G>T ENST00000367854.3 + 2 365 c.34G>T c.(34-36)Gtg>Ttg p.V12L RCSD1_ENST00000537350.1_Missense_Mutation_p.V12L NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 12 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) CAATGCCAATGTGGACAACTC 0.587000 130 820 1.6318e-82 2.40054e-82 1 1 0 NUP85 79902 broad.mit.edu 37 17 73221470 73221470 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:73221470C>A ENST00000447371.2 + 8 686 c.262C>A c.(262-264)Ctg>Atg p.L88M NUP85_ENST00000579324.1_Missense_Mutation_p.L144M|NUP85_ENST00000579298.1_Missense_Mutation_p.L211M|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000541827.1_Missense_Mutation_p.L210M|NUP85_ENST00000245544.4_Missense_Mutation_p.L256M Q9BW27 NUP85_HUMAN nucleoporin 85kDa 256 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) AGAGCTGGAGCTGAAGTGGCA 0.562000 6 59 0.0809354 0.0844182 1 1 0 BRF2 55290 broad.mit.edu 37 8 37704631 37704631 + Missense_Mutation SNP C C T rs142395337 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:37704631C>T ENST00000220659.6 - 3 397 c.277G>A c.(277-279)Gcg>Acg p.A93T BRF2_ENST00000520601.1_Missense_Mutation_p.A93T|BRF2_ENST00000521170.1_3'UTR NM_018310.3 NP_060780.2 Q9HAW0 BRF2_HUMAN BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit 93 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) TAGGCAACCGCGGTATCCTCA 0.547000 7 787 0 0 1 0 0 CXorf58 254158 broad.mit.edu 37 X 23933821 23933821 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:23933821T>C ENST00000379211.3 + 4 770 c.221T>C c.(220-222)tTc>tCc p.F74S NM_001169574.1|NM_152761.2 NP_001163045.1|NP_689974.2 Q96LI9 CX058_HUMAN chromosome X open reading frame 58 74 breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1) 14 TTTCAGGAATTCTATGTAACA 0.378000 4 15 0 0 1 0 0 FKBP9 11328 broad.mit.edu 37 7 33020118 33020118 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:33020118G>A ENST00000242209.4 + 5 1015 c.846G>A c.(844-846)agG>agA p.R282R FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538443.1_Silent_p.R144R|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Silent_p.R50R|FKBP9_ENST00000538336.1_Silent_p.R335R NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 282 PPIase FKBP-type 3. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) ACTTTCTCAGGTATCATTACA 0.413000 4 321 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43748606 43748606 + Nonsense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:43748606G>A ENST00000263801.3 - 12 2437 c.2185C>T c.(2185-2187)Caa>Taa p.Q729* TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.Q734*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.Q734*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.Q734* NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 729 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GCCAACTTTTGAGGGGAATCA 0.408000 Other conserved DNA damage response genes 6 250 0 0 1 0 0 NFYC 4802 broad.mit.edu 37 1 41204585 41204585 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:41204585C>A ENST00000372652.1 + 2 338 c.70C>A c.(70-72)Cct>Act p.P24T NFYC_ENST00000425457.2_Missense_Mutation_p.P24T|NFYC_ENST00000372653.1_Missense_Mutation_p.P24T|NFYC_ENST00000447388.3_Missense_Mutation_p.P24T|NFYC_ENST00000427410.2_Missense_Mutation_p.P24T|NFYC_ENST00000456393.2_Missense_Mutation_p.P24T|NFYC_ENST00000440226.3_Missense_Mutation_p.P24T|NFYC_ENST00000372651.1_Missense_Mutation_p.P24T|NFYC_ENST00000308733.5_Missense_Mutation_p.P24T|NFYC_ENST00000372654.1_Missense_Mutation_p.P24T Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma 24 protein folding|regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2) 15 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;1.72e-17) GTCGTTCTGGCCTCGGGTCAT 0.408000 3 31 0.115264 0.119247 1 1 0 IGHV3-16 28447 broad.mit.edu 37 14 106622120 106622120 + RNA SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:106622120G>A ENST00000390604.2 - 0 198 TCCAGAGGCTGCACAGGAGAG 0.587000 5 355 0 0 1 0 0 DDX31 64794 broad.mit.edu 37 9 135522302 135522302 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:135522302C>A ENST00000372159.3 - 12 1577 c.1426G>T c.(1426-1428)Gca>Tca p.A476S DDX31_ENST00000372153.1_Missense_Mutation_p.A476S|DDX31_ENST00000310532.2_Missense_Mutation_p.A476S|DDX31_ENST00000438527.3_Missense_Mutation_p.A347S NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 476 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) TCTGGTATTGCAAAGCTGTCC 0.532000 5 94 0.000602214 0.000670738 1 1 0 PLXND1 23129 broad.mit.edu 37 3 129275241 129275241 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:129275241C>T ENST00000324093.4 - 36 5870 c.5692G>A c.(5692-5694)Gcc>Acc p.A1898T PLXND1_ENST00000504689.1_Intron|PLXND1_ENST00000393239.1_3'UTR NM_015103.2 NP_055918.2 Q9Y4D7 PLXD1_HUMAN plexin D1 1898 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 GTCCTCCGGGCCGTGGGGTTG 0.612000 5 64 0 0 1 0 0 ZNF57 126295 broad.mit.edu 37 19 2917734 2917734 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:2917734C>G ENST00000306908.5 + 4 1263 c.1115C>G c.(1114-1116)gCc>gGc p.A372G ZNF57_ENST00000523428.1_Missense_Mutation_p.A340G|AC006277.2_ENST00000520090.2_RNA NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 372 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) TGTGGGAAAGCCTTCACTTGG 0.443000 48 139 0 0 1 0 0 KLHL6 89857 broad.mit.edu 37 3 183209922 183209922 + Silent SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:183209922G>T ENST00000341319.3 - 7 1694 c.1659C>A c.(1657-1659)atC>atA p.I553I NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 553 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) TGCAGGGCGCGATACCGCAGC 0.662000 12 110 2.12542e-12 2.82464e-12 1 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102496024 102496024 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:102496024G>T ENST00000360184.4 + 49 9781 c.9617G>T c.(9616-9618)aGg>aTg p.R3206M NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 3206 Stalk (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GTGGGGCTCAGGAAGATCAAA 0.532000 95 315 1.44766e-59 2.10532e-59 1 1 0 BRDT 676 broad.mit.edu 37 1 92446676 92446676 + Missense_Mutation SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:92446676T>A ENST00000370389.2 + 10 2396 c.1472T>A c.(1471-1473)cTa>cAa p.L491Q BRDT_ENST00000394530.3_Missense_Mutation_p.L518Q|BRDT_ENST00000402388.1_Missense_Mutation_p.L564Q|BRDT_ENST00000362005.3_Missense_Mutation_p.L564Q|BRDT_ENST00000399546.2_Missense_Mutation_p.L564Q NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 564 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GCATCAACACTAAGAGAATTA 0.358000 4 70 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76276447 76276447 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:76276447G>A ENST00000263187.3 + 4 758 c.654G>A c.(652-654)gtG>gtA p.V218V NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 218 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 CTTGTGCTGTGGGGAATTCCA 0.284000 Mismatch excision repair (MMR) 3 52 0 0 1 0 0 FAM228A 653140 broad.mit.edu 37 2 24406229 24406229 + Nonsense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:24406229C>T ENST00000295150.3 + 4 324 c.238C>T c.(238-240)Cag>Tag p.Q80* RP11-507M3.1_ENST00000584973.1_3'UTR NM_001040710.1 NP_001035800.1 family with sequence similarity 228, member A AACTGGTCTTCAGTGTGAGAC 0.438000 6 81 0 0 1 0 0 DDX60 55601 broad.mit.edu 37 4 169212948 169212948 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:169212948C>A ENST00000393743.3 - 8 1283 c.992G>T c.(991-993)aGa>aTa p.R331I NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 331 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AGTGATGACTCTAGCACAAGC 0.373000 11 123 0.000219431 0.000249309 1 1 0 CARS2 79587 broad.mit.edu 37 13 111340073 111340073 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr13:111340073G>A ENST00000257347.4 - 5 629 c.566C>T c.(565-567)gCa>gTa p.A189V CARS2_ENST00000535398.1_5'UTR NM_024537.2 NP_078813.1 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial (putative) 189 RGNAYSTAKGNVYFDLKSRGD -> SWERLFNGKRQCLLRS ESLEET (in Ref. 4; BAB93499). cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) CCTACCTTTTGCCGTTGAATA 0.408000 11 1947 0 0 1 0 0 KBTBD7 84078 broad.mit.edu 37 13 41767222 41767222 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr13:41767222G>A ENST00000379483.3 - 1 1480 c.1172C>T c.(1171-1173)cCa>cTa p.P391L NM_032138.4 NP_115514.2 Q8WVZ9 KBTB7_HUMAN kelch repeat and BTB (POZ) domain containing 7 391 protein binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669) GTCATGGTCTGGGGACACACA 0.507000 29 52 0 0 1 0 0 NFIB 4781 broad.mit.edu 37 9 14307284 14307284 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:14307284C>A ENST00000380959.3 - 2 739 c.266G>T c.(265-267)cGa>cTa p.R89L NFIB_ENST00000380953.1_Missense_Mutation_p.R89L|NFIB_ENST00000397575.3_Missense_Mutation_p.R89L|NFIB_ENST00000380921.3_Missense_Mutation_p.R89L|NFIB_ENST00000397581.2_Missense_Mutation_p.R89L|NFIB_ENST00000380934.4_Missense_Mutation_p.R115L|NFIB_ENST00000397579.2_Missense_Mutation_p.R89L NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 89 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) AAAGTCCTCTCGATACTCCTG 0.507000 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 33 620 2.32173e-10 2.9994e-10 1 1 0 LPL 4023 broad.mit.edu 37 8 19809320 19809320 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:19809320C>T ENST00000311322.8 + 3 760 c.290C>T c.(289-291)gCc>gTc p.A97V LPL_ENST00000521994.1_3'UTR NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 97 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) AAACTTGTGGCCGCCCTGTAC 0.493000 7 603 0 0 1 0 0 PDXK 8566 broad.mit.edu 37 21 45165995 45165995 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr21:45165995G>A ENST00000291565.4 + 5 550 c.367G>A c.(367-369)Gaa>Aaa p.E123K PDXK_ENST00000467908.1_Missense_Mutation_p.E83K|PDXK_ENST00000468090.1_Missense_Mutation_p.E95K NM_003681.4 NP_003672.1 O00764 PDXK_HUMAN pyridoxal (pyridoxine, vitamin B6) kinase 123 cell proliferation|pyridoxal 5'-phosphate salvage cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18) Pyridoxal(DB00147)|Pyridoxine(DB00165) GTGGGACGGCGAAGGCTCGAT 0.502000 12 285 0 0 1 0 0 ZNF132 7691 broad.mit.edu 37 19 58945900 58945900 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:58945900G>T ENST00000254166.3 - 3 1311 c.911C>A c.(910-912)tCt>tAt p.S304Y NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 304 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) CCTCAGCTTAGATGAGTGACT 0.388000 6 57 0.0293803 0.0307708 1 1 0 RAF1 5894 broad.mit.edu 37 3 12632448 12632448 + Missense_Mutation SNP G G C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:12632448G>C ENST00000251849.4 - 12 1658 c.1219C>G c.(1219-1221)Ctt>Gtt p.L407V RAF1_ENST00000534997.1_Missense_Mutation_p.L192V|RAF1_ENST00000542177.1_Missense_Mutation_p.L326V|RAF1_ENST00000442415.2_Missense_Mutation_p.L427V NM_002880.3 NP_002871.1 P04049 RAF1_HUMAN v-raf-1 murine leukemia viral oncogene homolog 1 407 Protein kinase. activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission cytosol|mitochondrial outer membrane|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6) biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 32 Sorafenib(DB00398) CCCATGAAAAGCAGAATGTTC 0.547000 T SRGAP3 pilocytic astrocytoma Noonan syndrome 8 759 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75264606 75264606 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:75264606C>A ENST00000325680.7 + 5 2730 c.2606C>A c.(2605-2607)aCc>aAc p.T869N YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.T674N NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 674 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) TTAGCAGACACCAGTAGTAAC 0.443000 8 527 0.00307968 0.00337835 1 1 0 PCLO 27445 broad.mit.edu 37 7 82581468 82581468 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:82581468G>A ENST00000423517.2 - 5 9138 c.8801C>T c.(8800-8802)gCa>gTa p.A2934V PCLO_ENST00000333891.8_Missense_Mutation_p.A2934V NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2865 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 TCTTCTCCCTGCGGTTAAATC 0.428000 6 495 0 0 1 0 0 SDHA 6389 broad.mit.edu 37 5 228381 228381 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:228381A>T ENST00000264932.6 + 6 818 c.703A>T c.(703-705)Atc>Ttc p.I235F SDHA_ENST00000504309.1_Missense_Mutation_p.I235F|SDHA_ENST00000510361.1_Missense_Mutation_p.I187F NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 235 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) CCGTGGTGTCATCGCACTGTG 0.428000 Familial Paragangliomas 5 87 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21071661 21071661 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:21071661C>A ENST00000261383.3 - 26 3736 c.3737G>T c.(3736-3738)tGg>tTg p.W1246L DNAH3_ENST00000415178.1_Missense_Mutation_p.W1246L NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1246 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) CTGCTGGAGCCACTTTTCCAC 0.527000 24 339 1.42536e-11 1.86505e-11 1 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553263 140553263 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:140553263T>C ENST00000231137.3 + 1 1021 c.847T>C c.(847-849)Tac>Cac p.Y283H NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 283 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCATTTTCTTACGCCACTGA 0.438000 4 413 0 0 1 0 0 DNAJC2 27000 broad.mit.edu 37 7 102953051 102953051 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:102953051C>A ENST00000379263.3 - 17 2081 c.1831G>T c.(1831-1833)Gaa>Taa p.E611* PMPCB_ENST00000249269.4_3'UTR|DNAJC2_ENST00000249270.7_Nonsense_Mutation_p.E558*|PMPCB_ENST00000420236.2_Intron NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 611 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 AGCACTTGTTCTTGAGCAGCT 0.328000 5 182 0.0293803 0.0307708 1 1 0 ZNF236 7776 broad.mit.edu 37 18 74624255 74624255 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr18:74624255G>A ENST00000253159.8 + 17 3053 c.2855G>A c.(2854-2856)gGt>gAt p.G952D ZNF236_ENST00000320610.9_Missense_Mutation_p.G954D NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 952 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CAGGCACAAGGTTCCCAGTTT 0.488000 12 93 0 0 1 0 0 WFDC11 259239 broad.mit.edu 37 20 44279177 44279177 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:44279177C>T ENST00000356562.2 - 3 284 c.63G>A c.(61-63)ctG>ctA p.L21L WFDC11_ENST00000324384.3_Silent_p.L21L Q8NEX6 WFD11_HUMAN WAP four-disulfide core domain 11 21 extracellular region endometrium(1)|lung(4) 5 Myeloproliferative disorder(115;0.0122) CCAGCACAGACAGTAGCACCG 0.468000 6 520 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176638432 176638432 + Missense_Mutation SNP G G C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:176638432G>C ENST00000439151.2 + 5 3077 c.3032G>C c.(3031-3033)aGt>aCt p.S1011T NSD1_ENST00000347982.4_Missense_Mutation_p.S742T|NSD1_ENST00000354179.4_Missense_Mutation_p.S742T|NSD1_ENST00000361032.4_Missense_Mutation_p.S908T NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1011 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) TCTGGTAAAAGTCGTTCAGAC 0.498000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 10 736 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23532750 23532750 + Nonsense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:23532750C>A ENST00000262710.1 - 13 3133 c.2806G>T c.(2806-2808)Gaa>Taa p.E936* ACIN1_ENST00000397341.3_Nonsense_Mutation_p.E178*|ACIN1_ENST00000605057.1_Nonsense_Mutation_p.E878*|ACIN1_ENST00000555053.1_Nonsense_Mutation_p.E923*|ACIN1_ENST00000557515.1_Nonsense_Mutation_p.E177*|ACIN1_ENST00000357481.2_Nonsense_Mutation_p.E178*|ACIN1_ENST00000338631.6_Nonsense_Mutation_p.E209*|ACIN1_ENST00000457657.1_Nonsense_Mutation_p.E896* NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 936 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TCCTCTTCTTCCCTCTGCCCA 0.517000 97 810 9.84052e-24 1.3648e-23 1 1 0 AMOTL2 51421 broad.mit.edu 37 3 134077468 134077468 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:134077468C>G ENST00000514516.1 - 9 2547 c.2369G>C c.(2368-2370)gGc>gCc p.G790A AMOTL2_ENST00000249883.5_Missense_Mutation_p.G733A|AMOTL2_ENST00000422605.2_Missense_Mutation_p.G732A|AMOTL2_ENST00000513145.1_Missense_Mutation_p.G730A NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 732 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 GTCTGGGGGGCCCTCAGTCTG 0.637000 OREG0015814 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 54 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149905312 149905312 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:149905312G>A ENST00000439741.2 - 10 1222 c.972C>T c.(970-972)gcC>gcT p.A324A MTMR11_ENST00000406732.3_Silent_p.A296A|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Silent_p.A252A NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 324 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GCAGGCAGAGGGCCCTCAGCC 0.557000 6 282 0 0 1 0 0 HLA-DPB1 3115 broad.mit.edu 37 6 33053608 33053608 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:33053608C>A ENST00000418931.2 + 4 815 c.699C>A c.(697-699)ttC>ttA p.F233L NM_002121.5 NP_002112.3 P04440 DPB1_HUMAN major histocompatibility complex, class II, DP beta 1 233 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 11 CTGGGGGCTTCGTGCTGGGGC 0.582000 43 236 2.01807e-28 2.83756e-28 1 1 0 TSHZ1 10194 broad.mit.edu 37 18 72999908 72999908 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr18:72999908G>A ENST00000322038.5 + 2 2995 c.2411G>A c.(2410-2412)gGc>gAc p.G804D TSHZ1_ENST00000580243.1_Missense_Mutation_p.G849D NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 849 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) AACCTCACAGGCCGCCTGACG 0.597000 3 61 0 0 1 0 0 RASAL3 64926 broad.mit.edu 37 19 15566947 15566947 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:15566947C>A ENST00000343625.6 - 11 1769 c.1689G>T c.(1687-1689)gaG>gaT p.E563D NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 563 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 CGAAGACCTCCTCGCAGCTGT 0.577000 5 112 0.014758 0.0156823 1 1 0 MRPL15 29088 broad.mit.edu 37 8 55049839 55049839 + Missense_Mutation SNP A A G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:55049839A>G ENST00000260102.4 + 3 349 c.275A>G c.(274-276)cAg>cGg p.Q92R NM_014175.3 NP_054894.1 Q9P015 RM15_HUMAN mitochondrial ribosomal protein L15 92 translation large ribosomal subunit|mitochondrion structural constituent of ribosome p.Q92P(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3) 10 Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458) TTCAGACGCCAGTATAAGCCT 0.398000 5 692 0 0 1 0 0 TAGAP 117289 broad.mit.edu 37 6 159457058 159457058 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:159457058C>T ENST00000367066.3 - 10 2328 c.1997G>A c.(1996-1998)cGa>cAa p.R666Q RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R488Q|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 666 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CTGTTTCCATCGCTCAGGCAG 0.627000 30 37 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79259751 79259751 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:79259751C>A ENST00000428286.1 - 12 8758 c.7558G>T c.(7558-7560)Gac>Tac p.D2520Y PRUNE2_ENST00000376718.3_Missense_Mutation_p.D2878Y|PRUNE2_ENST00000443509.2_Missense_Mutation_p.D127Y|PRUNE2_ENST00000223609.6_Missense_Mutation_p.D143Y|PRUNE2_ENST00000466266.2_5'UTR Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 2878 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 AGCCGGTTGTCCTCCCGTTCC 0.507000 11 129 3.86212e-05 4.42752e-05 1 1 0 ITGAE 3682 broad.mit.edu 37 17 3664715 3664715 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:3664715C>A ENST00000263087.4 - 5 513 c.415G>T c.(415-417)Gcc>Tcc p.A139S NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 139 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) AAGAAGTTGGCCTGAGCCTGG 0.567000 4 62 0.000602214 0.000670738 1 1 0 FRMD4A 55691 broad.mit.edu 37 10 13702551 13702551 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:13702551C>A ENST00000357447.2 - 20 2031 c.1663G>T c.(1663-1665)Gac>Tac p.D555Y FRMD4A_ENST00000378503.1_Missense_Mutation_p.D555Y|FRMD4A_ENST00000358621.4_Missense_Mutation_p.D540Y NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 555 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 ACCTGAGAGTCTTCTGCACAA 0.597000 OREG0020030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 52 0.00909568 0.0097673 1 1 0 TRIB2 28951 broad.mit.edu 37 2 12880890 12880890 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:12880890G>A ENST00000155926.4 + 3 2421 c.1002G>A c.(1000-1002)atG>atA p.M334I TRIB2_ENST00000381465.2_Missense_Mutation_p.M198I NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 334 negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity p.M334N(2) breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) ACGTCAACATGGAAGAGAACT 0.512000 3 91 0 0 1 0 0 C9orf153 389766 broad.mit.edu 37 9 88842305 88842305 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:88842305A>T ENST00000376001.3 - 4 329 c.249T>A c.(247-249)aaT>aaA p.N83K C9orf153_ENST00000339137.3_Intron|C9orf153_ENST00000469914.1_Intron NM_001276366.1 NP_001263295.1 Q5TBE3 CI153_HUMAN chromosome 9 open reading frame 153 83 breast(1)|lung(1) 2 tgtTCATTTTATTGACACTGT 0.323000 4 81 0 0 1 0 0 CST5 1473 broad.mit.edu 37 20 23860131 23860131 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:23860131C>A ENST00000304710.4 - 1 256 c.183G>T c.(181-183)aaG>aaT p.K61N NM_001900.4 NP_001891.2 P28325 CYTD_HUMAN cystatin D 61 extracellular region cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 AGTACTCATCCTTATTAATGA 0.567000 196 1491 3.06722e-38 4.4227e-38 1 1 0 FRAS1 80144 broad.mit.edu 37 4 79293949 79293949 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:79293949C>A ENST00000264895.6 + 24 3387 c.2947C>A c.(2947-2949)Cag>Aag p.Q983K FRAS1_ENST00000325942.6_Missense_Mutation_p.Q983K NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 983 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CTATGTTCTCCAGGATGGGGC 0.527000 130 1125 1.90545e-35 2.73976e-35 1 1 0 RIPPLY1 92129 broad.mit.edu 37 X 106146393 106146393 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:106146393G>A ENST00000276173.4 - 1 154 c.125C>T c.(124-126)tCc>tTc p.S42F RIPPLY1_ENST00000411805.1_Missense_Mutation_p.S42F|CLDN2_ENST00000541806.1_Intron NM_138382.2 NP_612391.1 Q0D2K3 RIPP1_HUMAN ripply transcriptional repressor 1 42 negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent nucleus lung(1)|urinary_tract(1) 2 TTGTCCAGAGGAGAGAAGGCA 0.537000 6 55 0 0 1 0 0 CSNK1A1 1452 broad.mit.edu 37 5 148904736 148904736 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:148904736T>A ENST00000261798.5 - 3 663 c.e3-2 CSNK1A1_ENST00000504676.1_Splice_Site|CSNK1A1_ENST00000515768.1_Splice_Site|CSNK1A1_ENST00000515435.1_Splice_Site|CSNK1A1_ENST00000377843.2_Splice_Site NM_001271741.1 NP_001258670.1 P48729 KC1A_HUMAN casein kinase 1, alpha 1 cell division|mitosis|Wnt receptor signaling pathway centrosome|condensed chromosome kinetochore|cytosol|nuclear speck ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.0407) CCATACCACCTAACGAAACAA 0.353000 3 34 0 0 1 0 0 NOL6 65083 broad.mit.edu 37 9 33463388 33463388 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:33463388G>T ENST00000455041.2 - 23 2949 c.2890C>A c.(2890-2892)Cct>Act p.P964T NOL6_ENST00000464829.1_Intron|NOL6_ENST00000379471.2_Intron Q9H6R4 NOL6_HUMAN nucleolar protein 6 (RNA-associated) 1016 rRNA processing condensed nuclear chromosome|nucleolus RNA binding endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2) 27 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) ATATGGCGAGGAGACAGGCGA 0.652000 7 82 7.48243e-07 9.08963e-07 1 1 0 OR2L2 26246 broad.mit.edu 37 1 248201694 248201694 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:248201694T>C ENST00000366479.2 + 1 221 c.125T>C c.(124-126)cTa>cCa p.L42P OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 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;0.0278) ATTGGAAATCTATCCATGATT 0.393000 6 606 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48145387 48145387 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:48145387C>T ENST00000418331.2 + 5 1191 c.839C>T c.(838-840)aCa>aTa p.T280I PTPRJ_ENST00000440289.2_Missense_Mutation_p.T280I NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 280 Fibronectin type-III 2.|Fibronectin type-III 3. contact inhibition|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 MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|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 TCAAATAAGACAAAGGGAGAC 0.458000 14 229 0 0 1 0 0 ZNF780B 163131 broad.mit.edu 37 19 40540772 40540772 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:40540772C>T ENST00000434248.1 - 5 2059 c.1994G>A c.(1993-1995)gGt>gAt p.G665D ZNF780B_ENST00000221355.6_Missense_Mutation_p.G517D NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 665 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TGGTTTTACACCAGCATGAAT 0.388000 6 378 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50405564 50405564 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:50405564C>A ENST00000217086.4 - 3 2689 c.2578G>T c.(2578-2580)Gca>Tca p.A860S SALL4_ENST00000395997.3_Missense_Mutation_p.A423S|SALL4_ENST00000371539.3_Missense_Mutation_p.A83S NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 860 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGCTGGGCTGCTAACAAAGGG 0.577000 11 304 3.32936e-07 4.07366e-07 1 1 0 PNPLA7 375775 broad.mit.edu 37 9 140357192 140357192 + Missense_Mutation SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:140357192A>T ENST00000406427.1 - 30 3773 c.3437T>A c.(3436-3438)cTg>cAg p.L1146Q PNPLA7_ENST00000277531.4_Missense_Mutation_p.L1121Q|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Missense_Mutation_p.L727Q NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 1121 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) CCACCCAGACAGCGCATCCCC 0.637000 2 4 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20089905 20089905 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:20089905G>A ENST00000396085.1 + 22 5305 c.4944G>A c.(4942-4944)caG>caA p.Q1648Q NAV2_ENST00000540292.1_Silent_p.Q1635Q|NAV2_ENST00000311043.8_Silent_p.Q712Q|NAV2_ENST00000349880.4_Silent_p.Q1648Q|NAV2_ENST00000533917.1_Silent_p.Q712Q|NAV2_ENST00000527559.2_Silent_p.Q1633Q|NAV2_ENST00000360655.4_Silent_p.Q1584Q|NAV2_ENST00000396087.3_Silent_p.Q1704Q NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1704 Ser-rich. 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 ATGCCTCCCAGGAGAAAGTTT 0.517000 29 87 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178426848 178426848 + Silent SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:178426848G>A ENST00000448150.3 + 14 3206 c.2388G>A c.(2386-2388)caG>caA p.Q796Q RASAL2_ENST00000462775.1_Silent_p.Q666Q|RASAL2_ENST00000367649.3_Silent_p.Q807Q NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 666 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 CTCCAAGCCAGGACAACACAG 0.408000 6 91 0 0 1 0 0 CCDC18 343099 broad.mit.edu 37 1 93691888 93691888 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:93691888A>T ENST00000343253.7 + 17 2674 c.e17-1 CCDC18_ENST00000421014.2_Splice_Site|CCDC18_ENST00000334652.5_Splice_Site|CCDC18_ENST00000557479.1_Splice_Site|CCDC18_ENST00000338949.4_Splice_Site|CCDC18_ENST00000401026.3_Splice_Site Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TTTCCTGCTTAGGTTAGGCAA 0.299000 4 74 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43604483 43604483 + Silent SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:43604483G>T ENST00000355710.3 + 6 1300 c.1068G>T c.(1066-1068)ctG>ctT p.L356L RET_ENST00000340058.5_Silent_p.L356L NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 356 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CTGCAGGGCTGGTTCTCAACC 0.602000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 13 73 4.93089e-13 6.58746e-13 1 1 0 PKD2L1 9033 broad.mit.edu 37 10 102058505 102058505 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:102058505T>C ENST00000318222.3 - 4 927 c.545A>G c.(544-546)cAt>cGt p.H182R PKD2L1_ENST00000338519.3_Missense_Mutation_p.H182R|PKD2L1_ENST00000353274.3_Missense_Mutation_p.H182R NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 182 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) GTGGGAGCCATGGCCCAGGCT 0.547000 9 164 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 78674724 78674724 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:78674724C>T ENST00000286627.5 - 23 3764 c.2812G>A c.(2812-2814)Ggg>Agg p.G938R KCNMA1_ENST00000404857.1_Missense_Mutation_p.G979R|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G996R|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G999R|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G938R|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G1000R|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.G996R|RP11-443A13.5_ENST00000426234.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G938R NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 996 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) ATGTTGACCCCAGTTGTGATG 0.488000 15 936 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16162137 16162137 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:16162137T>C ENST00000399408.2 + 13 1977 c.1802T>C c.(1801-1803)aTg>aCg p.M601T ABCC1_ENST00000349029.5_Missense_Mutation_p.M601T|ABCC1_ENST00000346370.5_Missense_Mutation_p.M601T|ABCC1_ENST00000399410.3_Missense_Mutation_p.M601T|ABCC1_ENST00000351154.5_Missense_Mutation_p.M601T|ABCC1_ENST00000345148.5_Missense_Mutation_p.M601T P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 601 ABC transmembrane type-1 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) ATTCTCCCCATGGTCATCAGC 0.577000 7 499 0 0 1 0 0 RAB2B 84932 broad.mit.edu 37 14 21931904 21931904 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:21931904C>T ENST00000397762.1 - 6 485 c.385G>A c.(385-387)Gtg>Atg p.V129M RAB2B_ENST00000461909.1_5'UTR NM_001163380.1|NM_032846.3 NP_001156852.1|NP_116235.2 Q8WUD1 RAB2B_HUMAN RAB2B, member RAS oncogene family 129 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane|plasma membrane GTP binding NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 all_cancers(95;0.000858) Epithelial(56;1.53e-06)|all cancers(55;1.44e-05) GBM - Glioblastoma multiforme(265;0.00391) TCTCTCTTCACATCCCTGCGG 0.398000 4 112 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176983950 176983950 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:176983950C>T ENST00000367654.2 - 8 1537 c.1524G>A c.(1522-1524)cgG>cgA p.R508R ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Silent_p.R500R|ASTN1_ENST00000424564.2_Silent_p.R500R|ASTN1_ENST00000361833.2_Silent_p.R500R O14525 ASTN1_HUMAN astrotactin 1 508 cell migration|neuron cell-cell adhesion integral to membrane p.R500R(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 CCCATTCGTTCCGAATGCAAA 0.488000 19 2169 0 0 1 0 0 CCNA1 8900 broad.mit.edu 37 13 37015253 37015253 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr13:37015253A>T ENST00000418263.1 + 7 1445 c.e7-1 CCNA1_ENST00000255465.4_Splice_Site|CCNA1_ENST00000440264.1_Splice_Site|CCNA1_ENST00000449823.1_Splice_Site NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) TCTTGTGCTTAGTACGTAGCA 0.393000 4 129 0 0 1 0 0 KRT84 3890 broad.mit.edu 37 12 52779044 52779044 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:52779044G>T ENST00000257951.3 - 1 392 c.326C>A c.(325-327)gCt>gAt p.A109D RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 109 Head. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) GCCACTGCCAGCTCCAAAGCC 0.587000 3 63 0.004672 0.00507046 1 1 0 ZNF234 10780 broad.mit.edu 37 19 44660861 44660861 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:44660861C>A ENST00000426739.2 + 6 950 c.692C>A c.(691-693)cCa>cAa p.P231Q ZNF234_ENST00000592437.1_Missense_Mutation_p.P231Q NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 231 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) GTAGAGAAACCATTCAAATGT 0.413000 5 486 0.184627 0.188705 1 1 0 TEX264 51368 broad.mit.edu 37 3 51708285 51708285 + Splice_Site SNP A A T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:51708285A>T ENST00000415259.1 + 2 1047 c.e2-1 TEX264_ENST00000341333.5_Splice_Site|TEX264_ENST00000457573.1_Splice_Site|TEX264_ENST00000395057.1_Splice_Site|TEX264_ENST00000416589.1_Splice_Site Q9Y6I9 TX264_HUMAN testis expressed 264 extracellular region NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) TCTCCTTTGCAGCTGCCTTGA 0.587000 5 49 0 0 1 0 0 MBD6 114785 broad.mit.edu 37 12 57920900 57920900 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:57920900G>T ENST00000355673.3 + 7 2328 c.1972G>T c.(1972-1974)Gac>Tac p.D658Y MBD6_ENST00000431731.2_Missense_Mutation_p.D658Y NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 658 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 AGGCTTGGGAGACCTGTCCCC 0.637000 7 15 6.5536e-12 8.64192e-12 1 1 0 FCGBP 8857 broad.mit.edu 37 19 40433988 40433988 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:40433988G>A ENST00000221347.6 - 2 288 c.281C>T c.(280-282)gCc>gTc p.A94V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 94 IgGFc-binding. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTCAGCCTTGGCACTGATGTT 0.547000 8 347 0 0 1 0 0 MTX2 10651 broad.mit.edu 37 2 177202251 177202251 + Silent SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:177202251C>T ENST00000392529.2 + 11 1026 c.621C>T c.(619-621)ggC>ggT p.G207G MTX2_ENST00000443241.1_Silent_p.G161G|MTX2_ENST00000249442.6_Silent_p.G217G O75431 MTX2_HUMAN metaxin 2 217 protein targeting to mitochondrion mitochondrial outer membrane breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181) TGGTATTTGGCCATCTATACA 0.378000 5 189 0 0 1 0 0 PRCP 5547 broad.mit.edu 37 11 82611312 82611312 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:82611312C>T ENST00000313010.3 - 1 327 c.133G>A c.(133-135)Gcc>Acc p.A45T PRCP_ENST00000393399.2_Missense_Mutation_p.A45T|PRCP_ENST00000535099.1_Intron NM_005040.2 NP_005031.1 P42785 PCP_HUMAN prolylcarboxypeptidase (angiotensinase C) 45 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 TAGTTCTTGGCTACAGCCGGG 0.647000 3 145 0 0 1 0 0 DPP8 54878 broad.mit.edu 37 15 65790316 65790316 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:65790316C>T ENST00000341861.5 - 5 2229 c.649G>A c.(649-651)Gat>Aat p.D217N DPP8_ENST00000559233.1_Missense_Mutation_p.D217N|DPP8_ENST00000321118.7_Missense_Mutation_p.D217N|DPP8_ENST00000358939.4_Missense_Mutation_p.D201N|DPP8_ENST00000339244.5_Missense_Mutation_p.D217N|DPP8_ENST00000321147.6_Missense_Mutation_p.D217N|DPP8_ENST00000300141.6_Missense_Mutation_p.D201N NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 217 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 AATTTTGGATCCATCCGTATG 0.388000 3 96 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154379606 154379606 + Missense_Mutation SNP G G T rs147606989 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:154379606G>T ENST00000406326.1 + 6 1277 c.874G>T c.(874-876)Gat>Tat p.D292Y DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron P42658 DPP6_HUMAN dipeptidyl-peptidase 6 0 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CTGGCTGGAGGATTGCAGGAG 0.562000 32 1050 1.32181e-22 1.82826e-22 1 1 0 ZADH2 284273 broad.mit.edu 37 18 72914297 72914297 + Splice_Site SNP T T A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr18:72914297T>A ENST00000322342.3 - 2 499 c.e2-2 ZADH2_ENST00000537114.2_Splice_Site NM_175907.4 NP_787103.1 Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain containing 2 peroxisome oxidoreductase activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(8)|skin(1) 15 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) CCAACAAATCTAAAAGAAAAC 0.428000 10 324 0 0 1 0 0 CADM4 199731 broad.mit.edu 37 19 44131001 44131001 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:44131001C>T ENST00000222374.2 - 4 482 c.434G>A c.(433-435)tGc>tAc p.C145Y NM_145296.1 NP_660339.1 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 145 Ig-like C2-type 1. cell adhesion integral to membrane endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) CGGAACGAGGCAGCTGAGCTC 0.672000 3 41 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940615 144940615 + Silent SNP G G A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:144940615G>A ENST00000525985.1 - 2 6878 c.6807C>T c.(6805-6807)acC>acT p.T2269T P58107 EPIPL_HUMAN epiplakin 1 2269 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) TGACGAAGCCGGTGGCCGCCT 0.716000 3 22 0 0 0.001168 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803629 142803629 + RNA SNP G G A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:142803629G>A ENST00000423385.1 - 0 1336 actaatatctgttgagtgttg 0.308000 7 143 0 0 0.013537 0 0 SETX 23064 broad.mit.edu 37 9 135158714 135158714 + Silent SNP T T C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:135158714T>C ENST00000372169.2 - 19 6665 c.6483A>G c.(6481-6483)ttA>ttG p.L2161L SETX_ENST00000224140.5_Silent_p.L2161L|SETX_ENST00000393220.1_Silent_p.L2161L Q7Z333 SETX_HUMAN senataxin 2161 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) ACTCAAGTAGTAAACCACCAC 0.478000 59 200 0 0 0.014410 0 0 HERC6 55008 broad.mit.edu 37 4 89334236 89334236 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:89334236C>T ENST00000380265.5 + 12 1559 c.1376C>T c.(1375-1377)aCg>aTg p.T459M HERC6_ENST00000264346.7_Missense_Mutation_p.T459M NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 459 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity p.T459M(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) CAGATAACTACGTGTCTCGAG 0.443000 15 677 0 0 0.004990 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607291 84607291 + Missense_Mutation SNP T T G TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:84607291T>G ENST00000344803.2 + 4 1953 c.1906T>G c.(1906-1908)Ttg>Gtg p.L636V NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 GCAGGAAAGTTTGTGGGGCTT 0.478000 6 158 0 0 0.003080 0 0 BLK 640 broad.mit.edu 37 8 11412980 11412980 + Silent SNP C C A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:11412980C>A ENST00000259089.4 + 8 1351 c.759C>A c.(757-759)ggC>ggA p.G253G BLK_ENST00000529894.1_Silent_p.G182G NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 253 Protein kinase. 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) GACAATTCGGCGAAGTCTGGA 0.607000 34 87 1.22384e-17 2.02566e-17 0.013726 1 0 DHX37 57647 broad.mit.edu 37 12 125465134 125465134 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:125465134T>C ENST00000308736.2 - 4 738 c.640A>G c.(640-642)Atg>Gtg p.M214V DHX37_ENST00000544745.1_Start_Codon_SNP_p.M1V NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 214 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.M214V(1) breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GGAACAGTCATCCCAGCCGGC 0.692000 6 43 0 0 0.012213 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23205183 23205183 + RNA SNP G G C rs143369458 by1000genomes TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:23205183G>C ENST00000400153.2 - 0 671 NR_003521.1 TTGGCTTTTCGGTGTCCTTGA 0.403000 3 28 0 0 0.000602 0 0 FRG1B 284802 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 8 124 0 0 0.003163 0 0 TUSC5 286753 broad.mit.edu 37 17 1183365 1183365 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:1183365C>T ENST00000333813.3 + 1 409 c.70C>T c.(70-72)Ccg>Tcg p.P24S NM_172367.2 NP_758955.2 Q8IXB3 TUSC5_HUMAN tumor suppressor candidate 5 24 response to biotic stimulus integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCTGGACCTGCCGGAGATGGA 0.627000 4 117 0 0 0.009096 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25144704 25144704 + RNA SNP T T C rs71218558 by1000genomes TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr13:25144704T>C ENST00000453498.1 + 0 245 TACATAGATGTGTTTAACACA 0.388000 3 7 0 0 0.001984 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 6 75 0 0 0.003080 0 0 CAPN2 824 broad.mit.edu 37 1 223954130 223954130 + Silent SNP A A C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:223954130A>C ENST00000295006.5 + 16 2061 c.1752A>C c.(1750-1752)ctA>ctC p.L584L CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.L506L NM_001748.4 NP_001739.2 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 584 Domain IV.|EF-hand 1. proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) TTGACATGCTAGATGTATCCT 0.403000 9 65 0 0 0.008291 0 0 TRMT12 55039 broad.mit.edu 37 8 125463612 125463612 + Missense_Mutation SNP C C G TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:125463612C>G ENST00000328599.3 + 1 565 c.444C>G c.(442-444)ttC>ttG p.F148L TRMT12_ENST00000521443.1_Intron NM_017956.3 NP_060426.2 Q53H54 TYW2_HUMAN tRNA methyltransferase 12 homolog (S. cerevisiae) 148 tRNA processing methyltransferase activity breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) AAGACTGTTTCCAAGCCAAGC 0.567000 7 208 0 0 0.003080 0 0 NAV1 89796 broad.mit.edu 37 1 201772738 201772738 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:201772738C>A ENST00000367296.4 + 16 3955 c.3535C>A c.(3535-3537)Caa>Aaa p.Q1179K NAV1_ENST00000367297.4_Missense_Mutation_p.Q1171K|NAV1_ENST00000367300.3_Missense_Mutation_p.Q1122K|NAV1_ENST00000367295.1_Missense_Mutation_p.Q788K|NAV1_ENST00000367302.1_Missense_Mutation_p.Q1135K|NAV1_ENST00000295624.6_Missense_Mutation_p.Q1179K|IPO9-AS1_ENST00000413035.1_RNA NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1179 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 GATCAAGAGACAAAACTCCTC 0.443000 28 45 2.65835e-16 4.32544e-16 0.007291 1 0 SORCS3 22986 broad.mit.edu 37 10 106976771 106976771 + Silent SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:106976771C>T ENST00000369701.3 + 19 2852 c.2625C>T c.(2623-2625)atC>atT p.I875I SORCS3_ENST00000369699.4_Silent_p.I161I NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 875 PKD. integral to membrane neuropeptide receptor activity p.I875I(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) TCAGCCCCATCGAGGACGGCA 0.532000 31 66 0 0 0.008361 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84607299 84607299 + Silent SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:84607299C>T ENST00000344803.2 + 4 1961 c.1914C>T c.(1912-1914)ggC>ggT p.G638G NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 p.G638G(2) GTTTGTGGGGCTTACCCTCTG 0.478000 6 156 0 0 0.003080 0 0 GRIA1 2890 broad.mit.edu 37 5 153190646 153190646 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:153190646G>A ENST00000285900.5 + 16 2925 c.2582G>A c.(2581-2583)cGc>cAc p.R861H GRIA1_ENST00000518783.1_Missense_Mutation_p.R871H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R792H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R781H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R861H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R871H NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 861 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 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding 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) ACCCTCCCCCGCAACAGCGGG 0.592000 22 81 0 0 0.007291 0 0 SOGA2 23255 broad.mit.edu 37 18 8825455 8825455 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr18:8825455C>A ENST00000359865.3 + 15 4089 c.3947C>A c.(3946-3948)aCg>aAg p.T1316K SOGA2_ENST00000518815.1_Missense_Mutation_p.T641K|SOGA2_ENST00000517570.1_Missense_Mutation_p.T1275K|SOGA2_ENST00000400050.3_Missense_Mutation_p.T1275K|SOGA2_ENST00000306329.11_Missense_Mutation_p.T1635K|SOGA2_ENST00000306285.7_Missense_Mutation_p.T641K NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1626 GGGTCCCGGACGATGGGGACC 0.612000 15 72 6.31663e-08 9.47494e-08 0.003163 1 0 MAP3K13 9175 broad.mit.edu 37 3 185198109 185198109 + Missense_Mutation SNP G G C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:185198109G>C ENST00000265026.3 + 13 2925 c.2591G>C c.(2590-2592)aGt>aCt p.S864T MAP3K13_ENST00000446828.1_Missense_Mutation_p.S657T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.S720T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.S864T|TMEM41A_ENST00000475480.1_5'UTR NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 864 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GGAAATACCAGTGACCACTCA 0.488000 7 276 0 0 0.001984 0 0 LOC645752 645752 broad.mit.edu 37 15 78211427 78211427 + RNA SNP G G T rs71145882 by1000genomes TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:78211427G>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGCTCTCGGAGCATCTCCTCC 0.587000 59 171 1.25742e-37 2.11776e-37 0.014410 1 0 AMER3 205147 broad.mit.edu 37 2 131520926 131520926 + Silent SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:131520926C>T ENST00000423981.1 + 2 1391 c.1281C>T c.(1279-1281)caC>caT p.H427H AMER3_ENST00000321420.4_Silent_p.H427H NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 AGCTCTTCCACGACCCCAGCG 0.637000 25 46 0 0 0.006320 0 0 TMEM108 66000 broad.mit.edu 37 3 133098622 133098622 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:133098622G>A ENST00000515826.1 + 3 190 c.67G>A c.(67-69)Gaa>Aaa p.E23K TMEM108_ENST00000321871.6_Missense_Mutation_p.E23K|TMEM108_ENST00000393130.3_Missense_Mutation_p.E23K|TMEM108_ENST00000508711.1_Intron Q6UXF1 TM108_HUMAN transmembrane protein 108 23 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GGCACTGACCGAAGCGCTGGC 0.552000 20 824 0 0 0.007413 0 0 DHX40 79665 broad.mit.edu 37 17 57663568 57663568 + Silent SNP A A G rs2697395 by1000genomes TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:57663568A>G ENST00000451169.2 + 14 1613 c.1254A>G c.(1252-1254)caA>caG p.Q418Q DHX40_ENST00000425628.3_Silent_p.Q389Q|DHX40_ENST00000251241.4_Silent_p.Q466Q Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 466 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding p.Q466Q(1) endometrium(7)|large_intestine(6)|lung(6)|prostate(1) 20 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CTCTTAAACAACTTTACCAGT 0.323000 4 25 0 0 0.009096 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 9 89 0 0 0.004482 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642989 1642989 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:1642989C>A ENST00000399682.1 - 1 379 c.335G>T c.(334-336)gGc>gTc p.G112V NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 112 9 X 4 AA repeats of C-C-X-P. keratin filament p.G112V(3) 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) CCCACAGGAGCCACAGCCCCC 0.677000 9 30 8.00594e-06 1.1645e-05 0.007413 1 0 MYO19 80179 broad.mit.edu 37 17 34861237 34861237 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:34861237G>T ENST00000431794.3 - 19 2326 c.1804C>A c.(1804-1806)Ctg>Atg p.L602M MYO19_ENST00000268852.9_Intron NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 602 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AGCTGCTCCAGTGAGGCCTGC 0.592000 8 63 5.18039e-06 7.65104e-06 0.003080 1 0 SYNE1 23345 broad.mit.edu 37 6 152749365 152749365 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:152749365C>T ENST00000367255.5 - 37 5552 c.4951G>A c.(4951-4953)Gag>Aag p.E1651K SYNE1_ENST00000265368.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1658K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1651K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1721K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1651 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGCAGATTCTCCAGCGCCGTC 0.512000 HNSCC(10;0.0054) 6 343 0 0 0.001984 0 0 DCLRE1C 64421 broad.mit.edu 37 10 14950897 14950897 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:14950897G>A ENST00000453695.2 - 14 1673 c.1229C>T c.(1228-1230)aCt>aTt p.T410I DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.T183I|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T410I|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T415I|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.T530I|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T415I NM_001033855.1 NP_001029027.1 Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 530 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 17 GGAGATGTGAGTTGATTCTCC 0.453000 Non-homologous end-joining 5 114 0 0 0.000602 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42127000 42127000 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:42127000C>T ENST00000382448.4 + 2 136 c.127C>T c.(127-129)Cgg>Tgg p.R43W JMJD7_ENST00000397299.4_Missense_Mutation_p.R43W|JMJD7_ENST00000408047.1_Intron|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R43W|JMJD7_ENST00000405106.2_3'UTR|JMJD7-PLA2G4B_ENST00000542534.1_Missense_Mutation_p.R43W NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN 0 C2. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 CCACTTCTACCGGGACTGGGT 0.602000 12 189 0 0 0.013537 0 0 OCA2 4948 broad.mit.edu 37 15 28230277 28230277 + Missense_Mutation SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:28230277C>T ENST00000354638.3 - 13 1452 c.1297G>A c.(1297-1299)Gcg>Acg p.A433T OCA2_ENST00000382996.2_Missense_Mutation_p.A433T|OCA2_ENST00000353809.5_Missense_Mutation_p.A409T NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 433 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AGGACGGCCGCGATGAGACAG 0.597000 Oculocutaneous Albinism 5 78 0 0 0.001984 0 0 LILRA1 11024 broad.mit.edu 37 19 55106130 55106130 + Splice_Site SNP G G A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:55106130G>A ENST00000453777.1 + 4 241 c.70_splice c.e4-1 p.G24_splice LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Splice_Site_p.G24_splice|LILRB1_ENST00000396321.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 24 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity p.G24E(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TTCCTTCCAGGGACCCTCCCC 0.587000 32 142 0 0 0.013726 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803621 142803621 + RNA SNP T T C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:142803621T>C ENST00000423385.1 - 0 1344 TGGAAGAaactaatatctgtt 0.303000 9 164 0 0 0.004007 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 6 95 0 0 0.004482 0 0 SLC25A21 89874 broad.mit.edu 37 14 37194883 37194883 + Splice_Site SNP C C G TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:37194883C>G ENST00000331299.5 - 6 846 c.e6-1 SLC25A21_ENST00000555449.1_Splice_Site NM_030631.3 NP_085134.1 Q9BQT8 ODC_HUMAN solute carrier family 25 (mitochondrial oxoadipate carrier), member 21 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) TGGCGAATGTCTAGAAAAATT 0.358000 12 124 0 0 0.010729 0 0 EIF3L 51386 broad.mit.edu 37 22 38247400 38247400 + Silent SNP T T C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr22:38247400T>C ENST00000412331.2 + 3 778 c.196T>C c.(196-198)Ttg>Ctg p.L66L EIF3L_ENST00000476955.1_3'UTR|EIF3L_ENST00000406934.1_5'UTR|EIF3L_ENST00000381683.6_Silent_p.L66L NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 66 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TGTCTCAGATTTGATTGACCA 0.438000 4 135 0 0 0.009096 0 0 EHHADH 1962 broad.mit.edu 37 3 184953206 184953206 + Missense_Mutation SNP T T C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:184953206T>C ENST00000231887.3 - 3 298 c.223A>G c.(223-225)Aca>Gca p.T75A EHHADH_ENST00000456310.1_5'UTR|EHHADH_ENST00000475987.1_5'UTR NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 75 Enoyl-CoA hydratase / isomerase. T -> I (in dbSNP:rs1062553). peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) TGTCCCAGTGTAAGGCCAAAT 0.493000 5 119 0 0 0.001168 0 0 GREB1 9687 broad.mit.edu 37 2 11774455 11774455 + Silent SNP C C T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:11774455C>T ENST00000381486.2 + 29 5490 c.5190C>T c.(5188-5190)aaC>aaT p.N1730N GREB1_ENST00000396123.1_Silent_p.N728N|GREB1_ENST00000234142.5_Silent_p.N1730N NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1730 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TGACCCAGAACGTGCAGTACA 0.657000 5 33 0 0 0.000602 0 0 MON2 23041 broad.mit.edu 37 12 62918364 62918364 + Silent SNP C C A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:62918364C>A ENST00000393630.3 + 9 1445 c.1054C>A c.(1054-1056)Cga>Aga p.R352R MON2_ENST00000393629.2_Silent_p.R352R|MON2_ENST00000552738.1_Silent_p.R352R|MON2_ENST00000552115.1_Silent_p.R352R|MON2_ENST00000280379.6_Silent_p.R352R|MON2_ENST00000393632.2_Silent_p.R352R|MON2_ENST00000546600.1_Silent_p.R352R NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) 352 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) ACAGTGGCTACGAGCTGTTGC 0.343000 5 83 6.31663e-08 9.47494e-08 0.003163 1 0 SUSD5 26032 broad.mit.edu 37 3 33195040 33195040 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:33195040C>A ENST00000309558.3 - 5 1501 c.1084G>T c.(1084-1086)Gtg>Ttg p.V362L NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 362 cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CTGCTCACCACTGGATCTCCT 0.552000 15 95 0.000308642 0.00043573 0.003163 1 0 FAT4 79633 broad.mit.edu 37 4 126238838 126238838 + Missense_Mutation SNP C C A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:126238838C>A ENST00000394329.3 + 1 1285 c.1272C>A c.(1270-1272)agC>agA p.S424R NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 424 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S424R(2) 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 AGGTGGCCAGCGCCTTGGACC 0.597000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 92 1.76689e-08 2.73584e-08 0.006214 1 0 RP11-93K22.13 0 broad.mit.edu 37 3 129811972 129811972 + RNA SNP G G C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:129811972G>C ENST00000514010.1 - 0 157 ALG1L2_ENST00000507643.1_RNA TTGACGGACAGAACCTTCCTT 0.408000 4 135 0 0 0.009096 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 5 120 0 0 0.001168 0 0 KIAA1143 57456 broad.mit.edu 37 3 44794950 44794950 + Silent SNP T T C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:44794950T>C ENST00000296121.4 - 3 407 c.348A>G c.(346-348)tcA>tcG p.S116S KIAA1143_ENST00000484437.1_5'UTR NM_020696.3 NP_065747.1 Q96AT1 K1143_HUMAN KIAA1143 116 NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582) TCTTCTTTTTTGAGCTTGCTG 0.373000 5 344 0 0 0.000602 0 0 ANGPT1 284 broad.mit.edu 37 8 108276471 108276471 + Silent SNP T T C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:108276471T>C ENST00000520734.1 - 7 999 c.714A>G c.(712-714)aaA>aaG p.K238K ANGPT1_ENST00000520052.1_Silent_p.K237K|ANGPT1_ENST00000518386.1_5'UTR Q15389 ANGP1_HUMAN angiopoietin 1 438 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 blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|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|Tie receptor signaling pathway 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) TGAGGGCACATTTGCACATAC 0.433000 37 110 0 0 0.004878 0 0 CPA5 93979 broad.mit.edu 37 7 130008311 130008311 + Missense_Mutation SNP G G A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:130008311G>A ENST00000485477.1 + 12 2313 c.1184G>A c.(1183-1185)aGc>aAc p.S395N CPA5_ENST00000393213.3_Missense_Mutation_p.S395N|CPA5_ENST00000474905.1_Missense_Mutation_p.S395N|CPA5_ENST00000466363.2_Missense_Mutation_p.S395N|CPA5_ENST00000461828.1_Missense_Mutation_p.S395N|CPA5_ENST00000431780.2_Missense_Mutation_p.A367T|CPA5_ENST00000355388.3_Missense_Mutation_p.S395N Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 395 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) TACGCCTTCAGCTTTGAGCTC 0.567000 69 226 0 0 0.014410 0 0 IGSF3 3321 broad.mit.edu 37 1 117142736 117142736 + Missense_Mutation SNP A A G rs138851517 TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:117142736A>G ENST00000369486.3 - 7 2621 c.1856T>C c.(1855-1857)aTc>aCc p.I619T IGSF3_ENST00000318837.6_Missense_Mutation_p.I639T|IGSF3_ENST00000369483.1_Missense_Mutation_p.I639T NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 619 Ig-like C2-type 5. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) AGCCTTCTCGATGGCAGTTCG 0.627000 3 45 0 0 0.001984 0 0 PPP1R3F 89801 broad.mit.edu 37 X 49142980 49142980 + Missense_Mutation SNP G G T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:49142980G>T ENST00000055335.6 + 4 1844 c.1828G>T c.(1828-1830)Gta>Tta p.V610L PPP1R3F_ENST00000466508.1_Missense_Mutation_p.V264L|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.V281L|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.V264L|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.V264L NM_033215.4 NP_149992.3 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory subunit 3F 610 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4) 27 Ovarian(276;0.236) CCGTTCTGTGGTAGCCACGAT 0.617000 6 33 1.12685e-05 1.61459e-05 0.004482 1 0 TEX264 51368 broad.mit.edu 37 3 51708285 51708285 + Splice_Site SNP A A T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:51708285A>T ENST00000415259.1 + 2 1047 c.e2-1 TEX264_ENST00000395057.1_Splice_Site|TEX264_ENST00000457573.1_Splice_Site|TEX264_ENST00000341333.5_Splice_Site|TEX264_ENST00000416589.1_Splice_Site Q9Y6I9 TX264_HUMAN testis expressed 264 extracellular region NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 7 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) TCTCCTTTGCAGCTGCCTTGA 0.587000 32 118 0 0 0.013726 0 0 GOLGA8DP 100132979 broad.mit.edu 37 15 22709666 22709666 + RNA SNP T T G rs4369632 TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:22709666T>G ENST00000314246.8 - 0 1118 CCTCTCCAGCTTCTCTACCCG 0.557000 13 586 0 0 0.002450 0 0 SLC2A5 6518 broad.mit.edu 37 1 9101933 9101934 + Frame_Shift_Ins INS - - C rs148745114 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:9101933_9101934insC ENST00000377424.4 - 5 660_661 c.481_482insG c.(481-483)tctfs p.S161fs SLC2A5_ENST00000536305.1_Frame_Shift_Ins_p.S102fs|SLC2A5_ENST00000535586.1_Frame_Shift_Ins_p.S46fs|SLC2A5_ENST00000377414.3_Frame_Shift_Ins_p.S161fs NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 161 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CACCCCGAGAGCCCCCCGCAGG 0.530 8 297 --- --- --- --- FBLIM1 54751 broad.mit.edu 37 1 16091532 16091533 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:16091532_16091533insC ENST00000375766.3 + 3 694_695 c.54_55insC c.(52-57)gcccccfs p.AP18fs FBLIM1_ENST00000400773.1_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000441801.2_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000332305.5_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000375771.1_Frame_Shift_Ins_p.AP18fs NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 18 Filamin-binding. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) TCACCCTGGCACCCCCGCGCCG 0.653 8 854 --- --- --- --- SPEN 23013 broad.mit.edu 37 1 16259479 16259480 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:16259479_16259480insC ENST00000375759.3 + 11 6948_6949 c.6744_6745insC c.(6742-6747)caccccfs p.HP2248fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2248 Interaction with MSX2 (By similarity).|RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding p.A2251fs*102(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CAGATCTGCAACCCCCCGCAGG 0.554 13 321 --- --- --- --- PADI3 51702 broad.mit.edu 37 1 17603074 17603075 + Frame_Shift_Ins INS - - C rs148039282 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:17603074_17603075insC ENST00000375460.3 + 12 1408_1409 c.1368_1369insC c.(1366-1371)caccccfs p.HP456fs NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 456 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AGAAGGTGCAGCCCCCCGTGGA 0.564 7 204 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 11 257 --- --- --- --- YTHDF2 51441 broad.mit.edu 37 1 29069012 29069013 + Frame_Shift_Ins INS - - G rs11553689 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:29069012_29069013insG ENST00000373812.3 + 4 592_593 c.230_231insG c.(229-231)aggfs p.R77fs YTHDF2_ENST00000542507.1_Frame_Shift_Ins_p.R77fs|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Frame_Shift_Ins_p.R27fs NM_016258.2 NP_057342.2 Q9Y5A9 YTHD2_HUMAN YTH domain family, member 2 77 humoral immune response NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) GCTTGGTCTACGGGGGGTGACA 0.505 8 601 --- --- --- --- PHC2 1912 broad.mit.edu 37 1 33799791 33799792 + Frame_Shift_Ins INS - - G rs34753508 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:33799791_33799792insG ENST00000257118.5 - 9 1710_1711 c.1657_1658insC c.(1657-1659)gaafs p.E553fs PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373416.1_Frame_Shift_Ins_p.E18fs|PHC2_ENST00000373418.3_Frame_Shift_Ins_p.E18fs|PHC2_ENST00000431992.1_Frame_Shift_Ins_p.E524fs|PHC2_ENST00000419414.2_Frame_Shift_Ins_p.E554fs|PHC2_ENST00000373422.3_Frame_Shift_Ins_p.E159fs NM_198040.2 NP_932157.1 Q8IXK0 PHC2_HUMAN polyhomeotic homolog 2 (Drosophila) 553 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CTCACCATTCTGGGGGGCAGTG 0.589 7 172 --- --- --- --- CSF3R 1441 broad.mit.edu 37 1 36935322 36935323 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:36935322_36935323insG ENST00000373103.1 - 11 1951_1952 c.1404_1405insC c.(1402-1407)ccgcgcfs p.R469fs CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 469 Fibronectin type-III 4. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TTGCTCGCGCTGGGGGGGCCCA 0.634 10 122 --- --- --- --- SZT2 23334 broad.mit.edu 37 1 43896326 43896327 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:43896326_43896327insG ENST00000562955.1 + 31 4469_4470 c.4469_4470insG c.(4468-4470)tggfs p.W1490fs SZT2_ENST00000372442.1_Frame_Shift_Ins_p.W648fs NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1547 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TTCAGTATCTTGGGGGGCGACT 0.609 14 822 --- --- --- --- ELAVL4 1996 broad.mit.edu 37 1 50666498 50666499 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:50666498_50666499insC ENST00000371821.1 + 7 1121_1122 c.806_807insC c.(805-807)gccfs p.A269fs ELAVL4_ENST00000371823.4_Frame_Shift_Ins_p.A264fs|ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000357083.4_Intron|ELAVL4_ENST00000448907.2_Intron|ELAVL4_ENST00000371819.1_Intron|ELAVL4_ENST00000371824.1_Intron P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 264 mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 TCTGGACCAGTCCCCCCTTCTG 0.530 8 544 --- --- --- --- FAM151A 338094 broad.mit.edu 37 1 55081756 55081757 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:55081756_55081757insG ENST00000302250.2 - 3 511_512 c.351_352insC c.(349-354)ccctatfs p.Y118fs ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 118 integral to membrane p.T118fs*43(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CTGTAGATAGTGGGGGGGTGTG 0.594 40 489 --- --- --- --- FGGY 55277 broad.mit.edu 37 1 59812016 59812017 + Frame_Shift_Ins INS - - G rs145440779 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:59812016_59812017insG ENST00000371218.4 + 4 595_596 c.411_412insG c.(409-414)gtggggfs p.VG137fs FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 137 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) TCCAGTACGTCGGGGGGGTGAT 0.500 12 148 --- --- --- --- EPHX4 253152 broad.mit.edu 37 1 92511121 92511122 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:92511121_92511122insG ENST00000370383.4 + 4 606_607 c.508_509insG c.(508-510)gggfs p.G170fs NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 170 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 TGGCCATGACTGGGGGGGCATG 0.386 14 152 --- --- --- --- LOC100129138 100129138 broad.mit.edu 37 1 104615945 104615946 + RNA INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:104615945_104615946insC ENST00000418362.1 + 0 301_302 NR_033990.1 GCTTGAGAAGGCCCCCCGACAA 0.559 2 4 --- --- --- --- OVGP1 5016 broad.mit.edu 37 1 111959046 111959047 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:111959046_111959047insC ENST00000369732.3 - 10 1109_1110 c.1054_1055insG c.(1054-1056)catfs p.H352fs OVGP1_ENST00000540696.1_3'UTR NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 352 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) CCACACCATGGCCCCCCCAAAA 0.505 41 573 --- --- --- --- FAM212B 55924 broad.mit.edu 37 1 112269658 112269659 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:112269658_112269659insG ENST00000357260.5 - 2 1006_1007 c.825_826insC c.(823-828)cccaagfs p.K276fs FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.K261fs NM_019099.4 NP_061972.1 Q9NTI7 CA183_HUMAN family with sequence similarity 212, member B 276 cervix(1)|endometrium(1) 2 GGGCAGCTTGTGGGGGGATTCT 0.574 8 348 --- --- --- --- IGSF3 3321 broad.mit.edu 37 1 117131467 117131468 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:117131467_117131468insC ENST00000369486.3 - 8 3053_3054 c.2288_2289insG c.(2287-2289)gctfs p.A763fs IGSF3_ENST00000318837.6_Frame_Shift_Ins_p.A783fs|IGSF3_ENST00000369483.1_Frame_Shift_Ins_p.A783fs NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 763 Ig-like C2-type 6. integral to membrane p.G763D(1)|p.G783D(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) GGCTGAACAGGCCCCCCGACAC 0.614 7 94 --- --- --- --- NBPF9 400818 broad.mit.edu 37 1 144816001 144816002 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:144816001_144816002insC ENST00000440491.2 + 4 598_599 c.598_599insC c.(598-600)cccfs p.P200fs NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Frame_Shift_Ins_p.P200fs NM_001037675.2 NP_001032764.1 neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 GAAATCGTCTGCCCCCAGGTAA 0.421 7 1137 --- --- --- --- PDE4DIP 9659 broad.mit.edu 37 1 144854629 144854629 + Frame_Shift_Del DEL C C - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:144854629delC ENST00000369359.4 - 45 7287 c.7249delG c.(7249-7251)aafs p.E2417fs PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.E2366fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.E2175fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.E2281fs|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.E2281fs Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2281 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTTCTCAGTTCCAGAAGTTCC 0.488 T PDGFRB MPD 8 320 --- --- --- --- ITGA10 8515 broad.mit.edu 37 1 145534121 145534122 + Frame_Shift_Ins INS - - C rs147270843 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:145534121_145534122insC ENST00000369304.3 + 14 1801_1802 c.1626_1627insC c.(1624-1629)gaccccfs p.DP542fs ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs|ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 542 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCAGCCAGAACCCCCCCAGGA 0.554 12 244 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145585532 145585533 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:145585532_145585533insG ENST00000393045.2 + 14 1887_1888 c.1797_1798insG c.(1795-1800)ccggggfs p.PG599fs PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 599 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTGTGGCCCCTGGGGGGGCCTT 0.663 10 109 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152325777 152325781 + Frame_Shift_Del DEL TCCAG TCCAG - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:152325777_152325781delTCCAG ENST00000388718.5 - 3 4553_4557 c.4481_4485delCTGGA c.(4480-4485)afs p.TG1494fs FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1494 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) ATCCCCTTCTTCCAGTTGTACTGGA 0.522 22 552 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152329462 152329463 + Frame_Shift_Ins INS - - AGCTG TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:152329462_152329463insAGCTG ENST00000388718.5 - 3 871_872 c.799_800insCAGCT c.(799-801)ttcfs p.F267fs FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 267 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) TGAACCTGAACAGCTAGACCCA 0.455 38 123 --- --- --- --- PGLYRP4 57115 broad.mit.edu 37 1 153317810 153317811 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:153317810_153317811insC ENST00000368739.3 - 4 533_534 c.175_176insG c.(175-177)agafs p.R59fs PGLYRP4_ENST00000359650.5_Frame_Shift_Ins_p.R63fs|PGLYRP4_ENST00000490266.1_5'UTR Q96LB8 PGRP4_HUMAN peptidoglycan recognition protein 4 63 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) AACAGCTTCTGCCCCCCATGCC 0.589 14 626 --- --- --- --- INTS3 65123 broad.mit.edu 37 1 153745515 153745516 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:153745515_153745516insC ENST00000456435.1 + 28 3775_3776 c.2589_2590insC c.(2587-2592)caccccfs p.HP863fs INTS3_ENST00000318967.2_Frame_Shift_Ins_p.HP1003fs|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Frame_Shift_Ins_p.HP1003fs|INTS3_ENST00000512605.1_Frame_Shift_Ins_p.HP863fs Q68E01 INT3_HUMAN integrator complex subunit 3 1004 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ATGCCACACAGCCCCCCAATGC 0.604 8 390 --- --- --- --- CASQ1 844 broad.mit.edu 37 1 160168790 160168790 + Frame_Shift_Del DEL A A - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:160168790delA ENST00000368079.3 + 9 1188 c.913delA c.(913-915)ctfs p.T305fs CASQ1_ENST00000467691.1_Frame_Shift_Del_p.T32fs|CASQ1_ENST00000368078.3_Frame_Shift_Del_p.T311fs NM_001231.4 NP_001222.3 P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) 311 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCAAGATAACACTGAAAACCC 0.502 7 416 --- --- --- --- B4GALT3 8703 broad.mit.edu 37 1 161142084 161142085 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:161142084_161142085insG ENST00000319769.5 - 7 1062_1063 c.840_841insC c.(838-843)cccatcfs p.I281fs B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron|B4GALT3_ENST00000367998.1_Frame_Shift_Ins_p.I281fs|PPOX_ENST00000535223.1_Intron NM_001199873.1|NM_003779.3 NP_001186802.1|NP_003770.1 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 281 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity cervix(1)|endometrium(5)|large_intestine(6)|lung(6) 18 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) CCTACAGATGTGGGGGGCCGAG 0.505 7 340 --- --- --- --- ADCY10 55811 broad.mit.edu 37 1 167865905 167865906 + Frame_Shift_Ins INS - - G rs35604923 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:167865905_167865906insG ENST00000367848.1 - 7 887_888 c.390_391insC c.(388-393)ccatttfs p.F131fs ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs|ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 223 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AAATTAAAATTGGGGGGTGGTT 0.332 8 301 --- --- --- --- PAPPA2 60676 broad.mit.edu 37 1 176563963 176563964 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:176563963_176563964insG ENST00000367662.3 + 3 2387_2388 c.1223_1224insG c.(1222-1224)cggfs p.R408fs PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 408 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.L408fs*49(2)|p.L408L(2) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TCTTTGCTCCTGGGGGGAGACA 0.574 8 283 --- --- --- --- CACNA1E 777 broad.mit.edu 37 1 181549749 181549750 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:181549749_181549750insC ENST00000526775.1 + 6 953_954 c.788_789insC c.(787-789)gccfs p.A263fs CACNA1E_ENST00000367570.1_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367573.2_Frame_Shift_Ins_p.A263fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000358338.5_Frame_Shift_Ins_p.A214fs|CACNA1E_ENST00000360108.3_Frame_Shift_Ins_p.A263fs NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 263 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 GAAGGATTTGACCCCCCTCACC 0.505 12 2946 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183514220 183514221 + Frame_Shift_Del DEL CA CA - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:183514220_183514221delCA ENST00000367537.3 + 17 2287_2288 c.2092_2093delCA c.(2092-2094)cfs p.H698fs SMG7_ENST00000347615.2_Frame_Shift_Del_p.H715fs|SMG7_ENST00000515829.2_Frame_Shift_Del_p.H669fs|SMG7_ENST00000456731.2_Frame_Shift_Del_p.H627fs|SMG7_ENST00000507469.1_Frame_Shift_Del_p.H669fs|SMG7_ENST00000508461.1_Frame_Shift_Del_p.H673fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 715 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GAAACAGTCCCACATTCCTTAC 0.545 45 633 --- --- --- --- ATP2B4 493 broad.mit.edu 37 1 203667345 203667346 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:203667345_203667346insC ENST00000357681.5 + 3 1377_1378 c.254_255insC c.(253-255)accfs p.T85fs ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 85 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CACAACGTGATCCCCCCCAAAA 0.480 14 487 --- --- --- --- CDK18 5129 broad.mit.edu 37 1 205497018 205497019 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:205497018_205497019insG ENST00000360066.2 + 9 1127_1128 c.826_827insG c.(826-828)gggfs p.G276fs CDK18_ENST00000429964.2_Frame_Shift_Ins_p.G276fs|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Frame_Shift_Ins_p.G306fs NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 274 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 CATCAACGAGAGGGGGGAGCTG 0.639 27 1254 --- --- --- --- CDK18 5129 broad.mit.edu 37 1 205497243 205497244 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:205497243_205497244insC ENST00000360066.2 + 10 1222_1223 c.921_922insC c.(919-924)agccccfs p.SP307fs CDK18_ENST00000429964.2_Frame_Shift_Ins_p.SP307fs|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Frame_Shift_Ins_p.SP337fs NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 305 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 TGTGGTACAGGCCCCCCGATGT 0.609 8 549 --- --- --- --- IRF6 3664 broad.mit.edu 37 1 209974763 209974764 + Splice_Site INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr1:209974763_209974764insG ENST00000367021.3 - 3 170 c.e3-2 IRF6_ENST00000542854.1_Intron NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 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) GGCCATGATCTGGGGGGGTCAG 0.594 HNSCC(57;0.16) 10 165 --- --- --- --- NBAS 51594 broad.mit.edu 37 2 15615948 15615949 + Frame_Shift_Ins INS - - TC TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:15615948_15615949insTC ENST00000281513.5 - 14 1228_1229 c.1203_1204insGA c.(1201-1206)gtctttfs p.F402fs NBAS_ENST00000441750.1_Frame_Shift_Ins_p.F402fs NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 402 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 CGAGCTAAAGTCACTGCACTGT 0.391 13 30 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 25966872 25966873 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:25966872_25966873insG ENST00000435504.4 - 13 2626_2627 c.2333_2334insC c.(2332-2334)cgtfs p.R778fs ASXL2_ENST00000336112.4_Frame_Shift_Ins_p.R750fs|ASXL2_ENST00000404843.1_Frame_Shift_Ins_p.R518fs|ASXL2_ENST00000272341.4_Frame_Shift_Ins_p.R518fs Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 778 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGGAGGCACTGGGGGGGTTTG 0.554 10 445 --- --- --- --- SLC8A1 6546 broad.mit.edu 37 2 40366704 40366705 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:40366704_40366705insG ENST00000406785.1 - 7 2462_2463 c.2273_2274insC c.(2272-2274)cacfs p.H758fs SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 794 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) AGTATTCAGTAGGGGGGACGAA 0.515 11 654 --- --- --- --- ABCG5 64240 broad.mit.edu 37 2 44055180 44055181 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:44055180_44055181insC ENST00000405322.1 - 4 1228_1229 c.332_333insG c.(331-333)gatfs p.D111fs ABCG5_ENST00000260645.1_Frame_Shift_Ins_p.D192fs|ABCG5_ENST00000543989.1_5'UTR Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 192 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CCGTGGAAATGCCCCCCAAGCT 0.589 10 325 --- --- --- --- FSHR 2492 broad.mit.edu 37 2 49191001 49191002 + Frame_Shift_Del DEL GA GA - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:49191001_49191002delGA ENST00000406846.2 - 10 1077_1078 c.958_959delTC c.(958-960)cfs p.S321fs FSHR_ENST00000346173.3_Frame_Shift_Del_p.S259fs|FSHR_ENST00000304421.4_Frame_Shift_Del_p.S295fs|FSHR_ENST00000541117.1_Frame_Shift_Del_p.S57fs NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 321 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GCTGTAGCTGGACTCATTGTCT 0.441 Gonadal Dysgenesis, 46 XX 54 248 --- --- --- --- WBP1 23559 broad.mit.edu 37 2 74685769 74685770 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:74685769_74685770insG ENST00000393972.3 + 1 243_244 c.40_41insG c.(40-42)gggfs p.G14fs WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.G14fs|WBP1_ENST00000233615.2_Frame_Shift_Ins_p.G14fs Q96G27 WBP1_HUMAN WW domain binding protein 1 14 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 CGAGGAGGCCTGGGGGGCACTT 0.634 8 207 --- --- --- --- SEMA4F 10505 broad.mit.edu 37 2 74906845 74906846 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:74906845_74906846insC ENST00000357877.2 + 14 1971_1972 c.1822_1823insC c.(1822-1824)cccfs p.P608fs SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Frame_Shift_Ins_p.P453fs NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 608 Ig-like C2-type. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 GACTGCACTCACCCCCCGGCGG 0.629 8 360 --- --- --- --- FABP1 2168 broad.mit.edu 37 2 88425822 88425823 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:88425822_88425823insC ENST00000393750.3 - 2 143_144 c.112_113insG c.(112-114)gtcfs p.V38fs FABP1_ENST00000295834.3_Frame_Shift_Ins_p.V38fs|FABP1_ENST00000495375.1_5'UTR P07148 FABPL_HUMAN fatty acid binding protein 1, liver 38 organ morphogenesis kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 6 GATTTCCGACACCCCCTTGATA 0.530 7 975 --- --- --- --- FAHD2A 51011 broad.mit.edu 37 2 96078465 96078466 + Frame_Shift_Ins INS - - C rs148515677 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:96078465_96078466insC ENST00000233379.4 + 7 988_989 c.835_836insC c.(835-837)cccfs p.P279fs FAHD2A_ENST00000447036.1_Frame_Shift_Ins_p.P279fs NM_016044.2 NP_057128.2 Q96GK7 FAH2A_HUMAN fumarylacetoacetate hydrolase domain containing 2A 279 hydrolase activity|metal ion binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 8 CCTAACTGGGACCCCCCCAGGT 0.559 7 77 --- --- --- --- VWA3B 200403 broad.mit.edu 37 2 98797558 98797559 + Frame_Shift_Ins INS - - T rs143566322 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:98797558_98797559insT ENST00000477737.1 + 9 1398_1399 c.1194_1195insT c.(1192-1197)ggtgaafs p.E399fs VWA3B_ENST00000435344.1_Frame_Shift_Ins_p.E399fs|VWA3B_ENST00000451075.2_Frame_Shift_Ins_p.E249fs NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 399 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 AGAAATATGGCTTGAAGGCCCA 0.480 9 56 --- --- --- --- TMEM37 140738 broad.mit.edu 37 2 120194795 120194795 + Frame_Shift_Del DEL A A - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:120194795delA ENST00000306406.4 + 2 387 c.352delA c.(352-354)aafs p.K118fs TMEM37_ENST00000409826.1_Frame_Shift_Del_p.K130fs|TMEM37_ENST00000465296.1_3'UTR NM_183240.2 NP_899063.2 Q8WXS4 CCGL_HUMAN transmembrane protein 37 118 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 GTGCGAGGACAAACACTCACA 0.617 8 174 --- --- --- --- CLASP1 23332 broad.mit.edu 37 2 122125357 122125358 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:122125357_122125358insC ENST00000263710.4 - 35 4081_4082 c.3692_3693insG c.(3691-3693)gagfs p.E1231fs CLASP1_ENST00000397587.3_Frame_Shift_Ins_p.E1171fs|CLASP1_ENST00000409078.3_Frame_Shift_Ins_p.E1164fs|CLASP1_ENST00000541377.1_Frame_Shift_Ins_p.E1170fs|CLASP1_ENST00000545861.1_Frame_Shift_Ins_p.E938fs|CLASP1_ENST00000455322.2_Frame_Shift_Ins_p.E1187fs|CLASP1_ENST00000541859.1_Frame_Shift_Ins_p.E948fs NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 1231 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) CTACTTCACTACCCCCCCGGCC 0.634 8 141 --- --- --- --- SAP130 79595 broad.mit.edu 37 2 128774049 128774050 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:128774049_128774050insG ENST00000357702.5 - 4 629_630 c.498_499insC c.(496-501)ccaggtfs p.G167fs SAP130_ENST00000259234.6_Frame_Shift_Ins_p.G141fs|SAP130_ENST00000259235.3_Frame_Shift_Ins_p.G167fs NM_001145928.1 NP_001139400.1 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa 167 Pro-rich. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CCTGGAACCTTGGGGGGAAGTG 0.530 25 1337 --- --- --- --- R3HDM1 23518 broad.mit.edu 37 2 136467651 136467652 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:136467651_136467652insG ENST00000264160.4 + 22 2851_2852 c.2481_2482insG c.(2479-2484)ggggggfs p.GG827fs R3HDM1_ENST00000409606.1_Frame_Shift_Ins_p.GG828fs|R3HDM1_ENST00000410054.1_Frame_Shift_Ins_p.GG772fs|R3HDM1_ENST00000329971.3_Frame_Shift_Ins_p.GG698fs|R3HDM1_ENST00000409478.1_Frame_Shift_Ins_p.GG699fs NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 827 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) CGCCACCTGGTGGGGGGATGGT 0.450 OREG0014997 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 635 --- --- --- --- FIGN 55137 broad.mit.edu 37 2 164467542 164467543 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:164467542_164467543insC ENST00000333129.3 - 3 1113_1114 c.799_800insG c.(799-801)accfs p.T267fs FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 267 Pro-rich. nuclear matrix ATP binding|nucleoside-triphosphatase activity p.A267fs*100(2) breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 CGGAGGCGGTGCCCCCCCAGGG 0.609 15 221 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168099957 168099958 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:168099957_168099958insG ENST00000409195.1 + 9 2144_2145 c.2055_2056insG c.(2053-2058)acggggfs p.TG685fs XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 510 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 AGGACATAACTGGGGGGGATGT 0.421 18 152 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168102336 168102337 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:168102336_168102337insG ENST00000409195.1 + 9 4523_4524 c.4434_4435insG c.(4432-4437)acaggafs p.G1479fs XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G1479fs|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G1257fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1304 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 AGACAGTCACTCAGGAAGATGT 0.371 11 254 --- --- --- --- MYO3B 140469 broad.mit.edu 37 2 171240258 171240259 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:171240258_171240259insC ENST00000334231.6 + 12 1251_1252 c.1251_1252insC c.(1249-1254)aaccccfs p.NP417fs MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs Q8WXR4 MYO3B_HUMAN myosin IIIB 408 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GCGCCTCCAATCCCCCCCACAT 0.465 14 187 --- --- --- --- AC096649.3 0 broad.mit.edu 37 2 176190119 176190259 + RNA DEL GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT GGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT - rs148912092 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:176190119_176190259delGGTATCACAACCTCTACTCAGTTCTACTACAAACTGTCTCAAGAACTAGATTTATACAATCATGTACCTAAGCCCCGCAACAAAAGAGTACCCATTCTTCCTTTTGTTATCAGAGCAGGAGTGCTAGGTGTGCTGTGTGGT ENST00000438963.1 + 0 247 gctgtgtggcggtatcacaacctctactcagttctactacaaactgtctcaagaactagatttatacaatcatgtacctaagccccgcaacaaaagagtacccattcttccttttgttatcagagcaggagtgctaggtgtgctgtgtggtggtatcacaa 0.440 188 487 --- --- --- --- NEUROD1 4760 broad.mit.edu 37 2 182542971 182542972 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:182542971_182542972insG ENST00000295108.3 - 2 1073_1074 c.616_617insC c.(616-618)cctfs p.P206fs NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 206 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) CGTCGGCAGGTGGGGGGGCATG 0.619 7 102 --- --- --- --- ITGAV 3685 broad.mit.edu 37 2 187521084 187521085 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:187521084_187521085insG ENST00000261023.3 + 17 1949_1950 c.1675_1676insG c.(1675-1677)gggfs p.G559fs ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 559 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GACTATTTCAAGGGGGGGACTG 0.431 10 405 --- --- --- --- MFSD6 54842 broad.mit.edu 37 2 191301838 191301839 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:191301838_191301839insC ENST00000392328.1 + 3 1407_1408 c.1083_1084insC c.(1081-1086)aaccccfs p.NP361fs MFSD6_ENST00000281416.7_Frame_Shift_Ins_p.NP361fs NM_017694.3 NP_060164.3 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 6 361 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1) 23 AGGGGTGTAAGCCCCCCGAGTA 0.579 11 226 --- --- --- --- HECW2 57520 broad.mit.edu 37 2 197171262 197171263 + Frame_Shift_Ins INS - - G rs144884935 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:197171262_197171263insG ENST00000260983.2 - 13 2945_2946 c.2763_2764insC c.(2761-2766)cctgaafs p.E922fs HECW2_ENST00000409111.1_Frame_Shift_Ins_p.E566fs NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 922 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 AGGAACTTCACGGGGGGAGACT 0.530 13 938 --- --- --- --- ICOS 29851 broad.mit.edu 37 2 204820471 204820472 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:204820471_204820472insG ENST00000316386.6 + 2 238_239 c.171_172insG c.(169-174)aaggggfs p.KG57fs ICOS_ENST00000435193.1_Frame_Shift_Ins_p.KG57fs NM_012092.3 NP_036224.1 Q9Y6W8 ICOS_HUMAN inducible T-cell co-stimulator 57 Ig-like V-type. immune response|T cell costimulation extracellular region p.Q60fs*8(1) breast(1)|large_intestine(1)|lung(4) 6 AGTTGCTGAAAGGGGGGCAAAT 0.386 10 614 --- --- --- --- RUFY4 285180 broad.mit.edu 37 2 218940309 218940310 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:218940309_218940310insG ENST00000374155.3 + 8 1564_1565 c.1154_1155insG c.(1153-1155)tggfs p.W385fs RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Frame_Shift_Ins_p.W365fs Q6ZNE9 RUFY4_HUMAN RUN and FYVE domain containing 4 365 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AGGCAGGGGTCGGGGGGCTCTA 0.594 12 154 --- --- --- --- RNF25 64320 broad.mit.edu 37 2 219529513 219529514 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:219529513_219529514insC ENST00000295704.2 - 9 1189_1190 c.749_750insG c.(748-750)gatfs p.D250fs NM_022453.2 NP_071898.2 Q96BH1 RNF25_HUMAN ring finger protein 25 250 positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding p.I251fs*3(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTCAATGATTCCCCCCCGCTC 0.564 8 251 --- --- --- --- NYAP2 57624 broad.mit.edu 37 2 226447071 226447072 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:226447071_226447072insC ENST00000272907.6 + 4 1351_1352 c.938_939insC c.(937-939)tccfs p.S313fs NYAP2_ENST00000409269.2_Intron NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 313 Pro-rich. TCAGTGCCATGCCCCCCCAAGG 0.619 11 123 --- --- --- --- NDUFA10 4705 broad.mit.edu 37 2 240954220 240954221 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr2:240954220_240954221insG ENST00000252711.2 - 5 704_705 c.604_605insC c.(604-606)cctfs p.P202fs NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs NM_004544.3 NP_004535.1 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 202 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) AATCACCAGGTGGGGGGGCAGG 0.535 7 105 --- --- --- --- BHLHE40 8553 broad.mit.edu 37 3 5025346 5025347 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:5025346_5025347insC ENST00000256495.3 + 5 1811_1812 c.1208_1209insC c.(1207-1209)accfs p.T403fs NM_003670.2 NP_003661.1 O14503 BHE40_HUMAN basic helix-loop-helix family, member e40 403 Golgi apparatus|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2) 12 CTGAAGCCAATCCCCCCTTTAA 0.485 7 917 --- --- --- --- RP11-380O24.1 0 broad.mit.edu 37 3 9390686 9390687 + RNA INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:9390686_9390687insC ENST00000491930.2 - 0 190 RP11-380O24.1_ENST00000518331.1_RNA CATGGCAACAGCCCCCCGGGCA 0.520 10 865 --- --- --- --- IL17RE 132014 broad.mit.edu 37 3 9953257 9953258 + Frame_Shift_Ins INS - - C rs9870003 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:9953257_9953258insC ENST00000454190.2 + 12 1288_1289 c.1203_1204insC c.(1201-1206)gtccccfs p.VP401fs IL17RE_ENST00000295980.3_Frame_Shift_Ins_p.VP401fs|IL17RE_ENST00000383814.3_Frame_Shift_Ins_p.VP401fs|IL17RE_ENST00000421412.1_Frame_Shift_Ins_p.VP434fs NM_001193380.1 NP_001180309.1 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E 401 cytoplasm|extracellular region|integral to membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) ACACTTTGGTGCCCCCCGTGTA 0.564 7 184 --- --- --- --- TATDN2 9797 broad.mit.edu 37 3 10312538 10312539 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:10312538_10312539insG ENST00000287652.4 + 4 2723_2724 c.1672_1673insG c.(1672-1674)gggfs p.G558fs TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.G558fs|RP11-438J1.1_ENST00000450534.1_3'UTR NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 558 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 GGATCTGGTCTGGGGGGCCTTT 0.505 12 533 --- --- --- --- SLC6A1 6529 broad.mit.edu 37 3 11072861 11072862 + Splice_Site INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:11072861_11072862insG ENST00000287766.4 + 13 1744 c.e13-1 SLC6A1_ENST00000536032.1_Splice_Site NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) TTCATCTTGCAGGGGGGTATTT 0.500 13 1093 --- --- --- --- ANKRD28 23243 broad.mit.edu 37 3 15756165 15756166 + Splice_Site INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:15756165_15756166insG ENST00000399451.2 - 9 1274 c.e9-2 ANKRD28_ENST00000383777.1_Splice_Site|ANKRD28_ENST00000497037.1_Splice_Site NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 ATCTTTACTCTGGGGGGGGAAG 0.361 8 84 --- --- --- --- GALNT15 117248 broad.mit.edu 37 3 16254154 16254155 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:16254154_16254155insC ENST00000339732.5 + 6 1779_1780 c.1276_1277insC c.(1276-1278)cccfs p.P426fs GALNT15_ENST00000437509.1_Frame_Shift_Ins_p.P426fs NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 p.S426F(1) GGATTCCCATTCCCCCCTCGAC 0.550 7 830 --- --- --- --- THRB 7068 broad.mit.edu 37 3 24164402 24164403 + Frame_Shift_Ins INS - - G rs121918687 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:24164402_24164403insG ENST00000396671.2 - 11 1706_1707 c.1358_1359insC c.(1357-1359)cttfs p.L453fs THRB_ENST00000416420.1_Frame_Shift_Ins_p.L453fs|THRB_ENST00000280696.5_Frame_Shift_Ins_p.L468fs|THRB_ENST00000356447.4_Frame_Shift_Ins_p.L453fs NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 453 Interaction with NR2F6.|Ligand-binding. P -> H (in GTHR).|P -> L (in GTHR).|P -> S (in GTHR).|P -> T (in GTHR; dbSNP:rs28933408). 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) CCAAGAACAAAGGGGGGAAGAG 0.480 11 813 --- --- --- --- DCLK3 85443 broad.mit.edu 37 3 36759523 36759524 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:36759523_36759524insG ENST00000416516.2 - 4 2220_2221 c.1730_1731insC c.(1729-1731)ctafs p.L577fs NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 577 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TGTCCCAGTAAGGGGGGAGGAA 0.540 8 347 --- --- --- --- VILL 50853 broad.mit.edu 37 3 38043303 38043304 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:38043303_38043304insC ENST00000283713.6 + 13 1697_1698 c.1431_1432insC c.(1429-1434)gaccccfs p.DP477fs VILL_ENST00000383759.2_Frame_Shift_Ins_p.DP477fs|VILL_ENST00000465644.1_Frame_Shift_Ins_p.DP195fs O15195 VILL_HUMAN villin-like 477 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton p.H480fs*38(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TGGGCAGCGAGCCCCCCCACTT 0.594 8 182 --- --- --- --- SCN10A 6336 broad.mit.edu 37 3 38739682 38739683 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:38739682_38739683insG ENST00000449082.2 - 27 5027_5028 c.5028_5029insC c.(5026-5031)ccactgfs p.L1677fs NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1677 sensory perception voltage-gated sodium channel complex p.Y1677fs*21(1) 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) GGGTCACAGTAGGGGGGCCCTG 0.589 7 477 --- --- --- --- IP6K2 51447 broad.mit.edu 37 3 48732640 48732641 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:48732640_48732641insC ENST00000431721.2 - 3 486_487 c.249_250insG c.(247-252)ggactcfs p.L84fs IP6K2_ENST00000413298.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000432678.2_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000340879.4_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000417896.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000328631.5_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000436134.1_5'UTR|IP6K2_ENST00000453202.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000450045.1_Frame_Shift_Ins_p.L83fs|IP6K2_ENST00000446860.1_Frame_Shift_Ins_p.L87fs|IP6K2_ENST00000449610.1_Frame_Shift_Ins_p.L29fs|IP6K2_ENST00000443964.1_Frame_Shift_Ins_p.L88fs NM_001190316.1 NP_001177245.1 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 29 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 ACGCATGAGTGCCCCCCGACCT 0.619 9 536 --- --- --- --- QARS 5859 broad.mit.edu 37 3 49137078 49137078 + Frame_Shift_Del DEL C C - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:49137078delC ENST00000306125.6 - 16 1728 c.1391delG c.(1390-1392)ccfs p.R464fs QARS_ENST00000414533.1_Frame_Shift_Del_p.R453fs P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 464 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) GTAGGAAGAGCGTCTGGGGTG 0.577 8 98 --- --- --- --- IFRD2 7866 broad.mit.edu 37 3 50325937 50325938 + Splice_Site INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:50325937_50325938insG ENST00000436390.1 - 14 1650 c.e14-2 IFRD2_ENST00000336089.4_Splice_Site|IFRD2_ENST00000417626.2_Splice_Site|IFRD2_ENST00000429673.2_Splice_Site Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CTCATTGTTCTGGGGGGCAGAG 0.609 8 402 --- --- --- --- KCTD6 200845 broad.mit.edu 37 3 58486771 58486772 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:58486771_58486772insG ENST00000355076.6 + 2 1109_1110 c.126_127insG c.(124-129)ttggggfs p.LG42fs KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs NM_153331.3 NP_699162.3 Q8NC69 KCTD6_HUMAN potassium channel tetramerization domain containing 6 42 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) GAGCTATGTTTGGGGGGGACTT 0.465 9 297 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87018182 87018183 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:87018182_87018183insC ENST00000398399.2 - 3 857_858 c.494_495insG c.(493-495)ggtfs p.G165fs VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) CAGGATGAACTCCCCCCAAACA 0.579 8 406 --- --- --- --- MINA 84864 broad.mit.edu 37 3 97668725 97668726 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:97668725_97668726insG ENST00000333396.6 - 7 1604_1605 c.1022_1023insC c.(1021-1023)ctafs p.L341fs MINA_ENST00000394198.2_Frame_Shift_Ins_p.L341fs|MINA_ENST00000360258.4_Frame_Shift_Ins_p.L340fs NM_001042533.2|NM_032778.5 NP_001035998.1|NP_116167.3 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen 341 ribosome biogenesis cytoplasm|nucleolus p.P340R(1) breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1) 13 CCGCAGAGTAAGGGGGGAGTCT 0.510 7 773 --- --- --- --- SPICE1 152185 broad.mit.edu 37 3 113172442 113172444 + In_Frame_Del DEL TCG TCG - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:113172442_113172444delTCG ENST00000295872.4 - 14 2270_2272 c.2011_2013delCGA c.(2011-2013)del p.R671del NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 671 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 AATCAGCAATTCGTGTCATTATG 0.443 19 136 --- --- --- --- KIAA2018 205717 broad.mit.edu 37 3 113375177 113375178 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:113375177_113375178insG ENST00000316407.4 - 7 5761_5762 c.5351_5352insC c.(5350-5352)cccfs p.P1784fs KIAA2018_ENST00000478658.1_Frame_Shift_Ins_p.P1784fs|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1784 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.P1784Q(1) NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GGTCAATTGGTGGGGGGCCAGT 0.426 11 1009 --- --- --- --- KIAA2018 205717 broad.mit.edu 37 3 113376413 113376417 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:113376413_113376417delTTGAG ENST00000316407.4 - 7 4522_4526 c.4112_4116delCTCAA c.(4111-4116)afs p.TQ1371fs KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.TQ1371fs|KIAA2018_ENST00000491165.1_Intron NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1371 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TGACCATCATTTGAGTTTGGTCAGA 0.473 27 239 --- --- --- --- HGD 3081 broad.mit.edu 37 3 120357337 120357338 + Frame_Shift_Ins INS - - C rs34214309 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:120357337_120357338insC ENST00000283871.5 - 12 1429_1430 c.970_971insG c.(970-972)tgcfs p.C324fs NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 324 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) CTTATCAGCAACCCCCCATCGA 0.480 7 734 --- --- --- --- POLQ 10721 broad.mit.edu 37 3 121208241 121208242 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:121208241_121208242insT ENST00000264233.5 - 16 3664_3665 c.3536_3537insA c.(3535-3537)acafs p.T1179fs NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1179 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) AAACATTCTGGTTTTTTGAACC 0.386 DNA polymerases (catalytic subunits) 10 1471 --- --- --- --- CASR 846 broad.mit.edu 37 3 121973138 121973139 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:121973138_121973139insG ENST00000498619.1 + 2 540_541 c.102_103insG c.(100-105)ctggggfs p.LG34fs CASR_ENST00000296154.5_Frame_Shift_Ins_p.LG34fs|CASR_ENST00000490131.1_Frame_Shift_Ins_p.LG34fs NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 34 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 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) ACATTATCCTTGGGGGGCTCTT 0.515 7 199 --- --- --- --- MUC13 56667 broad.mit.edu 37 3 124646628 124646629 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:124646628_124646629insG ENST00000311075.3 - 2 299_300 c.261_262insC c.(259-264)cctaatfs p.N88fs NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 88 Thr-rich. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 GTACTAATTATGGGGGGAGCAG 0.441 7 1030 --- --- --- --- MUC13 56667 broad.mit.edu 37 3 124646676 124646677 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:124646676_124646677insG ENST00000311075.3 - 2 251_252 c.213_214insC c.(211-216)cctaatfs p.N72fs NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 72 Thr-rich. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 GTACTAATTATGGGGGGAGCAG 0.460 9 1029 --- --- --- --- BFSP2 8419 broad.mit.edu 37 3 133119040 133119041 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:133119040_133119041insC ENST00000302334.2 + 1 202_203 c.113_114insC c.(112-114)accfs p.T38fs NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 38 Head. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 TCCCTGGAGAGCCCCCCAGCCT 0.653 10 265 --- --- --- --- ACPL2 92370 broad.mit.edu 37 3 140997216 140997217 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:140997216_140997217insT ENST00000508812.1 + 2 1992_1993 c.85_86insT c.(85-87)aatfs p.N29fs ACPL2_ENST00000393010.2_Frame_Shift_Ins_p.N38fs|ACPL2_ENST00000502783.1_5'UTR|ACPL2_ENST00000286353.4_Frame_Shift_Ins_p.N38fs|ACPL2_ENST00000504264.1_Frame_Shift_Ins_p.N21fs|ACPL2_ENST00000393007.1_Frame_Shift_Ins_p.N22fs|RP11-438D8.2_ENST00000507698.1_RNA Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 38 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 TCCTAAGAATGGAATGAGTAGC 0.564 9 224 --- --- --- --- GRK7 131890 broad.mit.edu 37 3 141535707 141535708 + Frame_Shift_Ins INS - - G rs149574289 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:141535707_141535708insG ENST00000264952.2 + 4 1614_1615 c.1477_1478insG c.(1477-1479)gggfs p.G493fs NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 493 AGC-kinase C-terminal. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity p.R493L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CTCTGAGGTTCGGGGGGTGGAA 0.460 18 892 --- --- --- --- TRIM59 286827 broad.mit.edu 37 3 160156831 160156832 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:160156831_160156832insT ENST00000543469.1 - 2 354_355 c.140_141insA c.(139-141)tagfs p.*47fs TRIM59_ENST00000309784.4_Frame_Shift_Ins_p.*47fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Ins_p.*47fs Q8IWR1 TRI59_HUMAN tripartite motif containing 59 47 integral to membrane|intracellular zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3) 15 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GTAAAGGTCTCCATATATAAAA 0.361 23 329 --- --- --- --- MECOM 2122 broad.mit.edu 37 3 169099148 169099149 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:169099148_169099149insG ENST00000494292.1 - 2 298_299 c.201_202insC c.(199-204)cctctafs p.L68fs MECOM_ENST00000485957.1_5'UTR NM_004991.3 NP_004982.2 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 68 sequence-specific DNA binding transcription factor activity p.I62V(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 GGGATGTAGATGGGGGCTTTGT 0.495 10 1723 --- --- --- --- HTR3C 170572 broad.mit.edu 37 3 183777416 183777417 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:183777416_183777417insC ENST00000318351.1 + 7 947_948 c.913_914insC c.(913-915)cccfs p.P305fs NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 305 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity 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) TGCCAGTGGCACCCCCCTCATC 0.584 12 1112 --- --- --- --- MASP1 5648 broad.mit.edu 37 3 186953595 186953596 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:186953595_186953596insC ENST00000296280.6 - 11 2288_2289 c.2063_2064insG c.(2062-2064)gccfs p.A688fs MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Frame_Shift_Ins_p.A575fs NM_139125.3 NP_624302.1 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 669 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) ATTCTTCAGGTCCCCCCCAGGA 0.569 9 51 --- --- --- --- UBXN7 26043 broad.mit.edu 37 3 196094916 196094917 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:196094916_196094917insG ENST00000296328.4 - 8 890_891 c.816_817insC c.(814-819)ccaaaafs p.PK272fs UBXN7_ENST00000535858.1_Frame_Shift_Ins_p.PK124fs|UBXN7_ENST00000428095.1_Frame_Shift_Ins_p.PK110fs NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 272 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GCACATTTTTTGGGGGGACTGC 0.396 8 433 --- --- --- --- LETM1 3954 broad.mit.edu 37 4 1843235 1843236 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:1843235_1843236insG ENST00000302787.2 - 3 728_729 c.432_433insC c.(430-435)cccagafs p.R145fs NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 145 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) ACCACCTCTGCGGGGGGGCTGT 0.604 7 92 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648518 41648519 + Frame_Shift_Ins INS - - GAGT TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:41648518_41648519insGAGT ENST00000313860.7 + 12 1327_1328 c.1273_1274insGAGT c.(1273-1275)gctfs p.A425fs LIMCH1_ENST00000514096.1_Frame_Shift_Ins_p.A266fs|LIMCH1_ENST00000381753.4_Frame_Shift_Ins_p.A259fs|LIMCH1_ENST00000509277.1_Frame_Shift_Ins_p.A259fs|LIMCH1_ENST00000512632.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000511496.1_Frame_Shift_Ins_p.A266fs|LIMCH1_ENST00000508501.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000513024.1_Frame_Shift_Ins_p.A254fs|LIMCH1_ENST00000503057.1_Frame_Shift_Ins_p.A810fs|LIMCH1_ENST00000396595.3_Frame_Shift_Ins_p.A271fs|LIMCH1_ENST00000512946.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000512820.1_Frame_Shift_Ins_p.A413fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 425 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 GAGAGAGAGAGAGCTGCATGAA 0.465 39 549 --- --- --- --- FRAS1 80144 broad.mit.edu 37 4 79238582 79238583 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:79238582_79238583insC ENST00000264895.6 + 17 2320_2321 c.1880_1881insC c.(1879-1881)accfs p.T627fs FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 627 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ACAGCCTGCAGCCCCCCCAAGG 0.574 18 294 --- --- --- --- ARHGAP24 83478 broad.mit.edu 37 4 86916051 86916052 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:86916051_86916052insC ENST00000395184.1 + 9 1710_1711 c.1244_1245insC c.(1243-1245)accfs p.T415fs ARHGAP24_ENST00000264343.4_Frame_Shift_Ins_p.T322fs|ARHGAP24_ENST00000395183.2_Frame_Shift_Ins_p.T320fs NM_001025616.2 NP_001020787.2 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 415 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1) 24 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) GTGTCTAGAAGCCCCCCTCTCA 0.480 7 668 --- --- --- --- ABCG2 9429 broad.mit.edu 37 4 89052270 89052271 + Frame_Shift_Ins INS - - T rs150450599 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:89052270_89052271insT ENST00000237612.3 - 5 1018_1019 c.473_474insA c.(472-474)agafs p.R158fs ABCG2_ENST00000515655.1_Frame_Shift_Ins_p.R158fs NM_004827.2 NP_004818.2 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 158 ABC transporter. cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) TAATCCGTTCGTTTTTTTCATG 0.426 9 521 --- --- --- --- C4orf17 84103 broad.mit.edu 37 4 100443777 100443778 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:100443777_100443778insC ENST00000514652.1 + 3 602_603 c.248_249insC c.(247-249)tccfs p.S83fs C4orf17_ENST00000326581.4_Frame_Shift_Ins_p.S83fs|C4orf17_ENST00000503257.1_3'UTR Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 83 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) AATTGCAGTTACCCCTCCAGCA 0.500 10 180 --- --- --- --- CFI 3426 broad.mit.edu 37 4 110662158 110662159 + Frame_Shift_Ins INS - - C rs7437875 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:110662158_110662159insC ENST00000394634.2 - 13 1849_1850 c.1642_1643insG c.(1642-1644)aaafs p.K548fs CFI_ENST00000512148.1_Frame_Shift_Ins_p.K541fs|CFI_ENST00000394635.3_Frame_Shift_Ins_p.K556fs NM_000204.3 NP_000195.2 P05156 CFAI_HUMAN complement factor I 548 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) TCCACAGTTTTCCCCCCAACTC 0.465 11 526 --- --- --- --- EGF 1950 broad.mit.edu 37 4 110909773 110909774 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:110909773_110909774insC ENST00000265171.5 + 18 3087_3088 c.2642_2643insC c.(2641-2643)tccfs p.S881fs EGF_ENST00000509793.1_Frame_Shift_Ins_p.S839fs|EGF_ENST00000503392.1_Frame_Shift_Ins_p.S881fs NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 881 EGF-like 7; calcium-binding (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GTCCCAGTGTGCCCCCCTGCCT 0.470 17 1676 --- --- --- --- MFSD8 256471 broad.mit.edu 37 4 128865118 128865119 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:128865118_128865119insA ENST00000296468.3 - 5 354_355 c.227_228insT c.(226-228)tggfs p.W76fs MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Frame_Shift_Ins_p.W31fs|MFSD8_ENST00000541133.1_Frame_Shift_Ins_p.W31fs NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 76 cell death|transmembrane transport integral to membrane|lysosomal membrane cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 TAACCCAGCCCAAAAAACTTGT 0.347 7 1023 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134071648 134071649 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:134071648_134071649insC ENST00000264360.4 + 1 1179_1180 c.353_354insC c.(352-354)accfs p.T118fs NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 118 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S121fs*13(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTAATGACAACCCCCCCTCTT 0.604 10 231 --- --- --- --- ZNF827 152485 broad.mit.edu 37 4 146686192 146686193 + Frame_Shift_Ins INS - - G rs151005596 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:146686192_146686193insG ENST00000508784.1 - 13 3404_3405 c.3177_3178insC c.(3175-3180)ccaacafs p.T1060fs ZNF827_ENST00000513320.1_Frame_Shift_Ins_p.T710fs|ZNF827_ENST00000379448.4_Frame_Shift_Ins_p.T1060fs Q17R98 ZN827_HUMAN zinc finger protein 827 1060 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P1059P(2) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) AGCAGCTGTTCGGGGGTCTTCA 0.475 15 862 --- --- --- --- ARHGAP10 79658 broad.mit.edu 37 4 148861006 148861007 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:148861006_148861007insG ENST00000336498.3 + 14 1498_1499 c.1259_1260insG c.(1258-1260)gggfs p.G420fs ARHGAP10_ENST00000414545.2_Frame_Shift_Ins_p.G69fs NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 420 Rho-GAP. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) TACAGAGTTGTGGGGGTGAGTT 0.356 8 621 --- --- --- --- SH3D19 152503 broad.mit.edu 37 4 152069284 152069285 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:152069284_152069285insG ENST00000409598.4 - 11 2198_2199 c.1031_1032insC c.(1030-1032)cgafs p.R344fs SH3D19_ENST00000427414.2_Frame_Shift_Ins_p.R308fs|SH3D19_ENST00000409252.2_Frame_Shift_Ins_p.R344fs|SH3D19_ENST00000455740.1_Frame_Shift_Ins_p.R344fs|SH3D19_ENST00000514152.1_Frame_Shift_Ins_p.R344fs|SH3D19_ENST00000304527.4_Frame_Shift_Ins_p.R344fs|SH3D19_ENST00000424281.1_Frame_Shift_Ins_p.R308fs Q5HYK7 SH319_HUMAN SH3 domain containing 19 344 Interaction with SH3GL1.|Pro-rich. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) GTGGTCTCTCAGGGGGCACCTT 0.426 8 2003 --- --- --- --- WDR17 116966 broad.mit.edu 37 4 177046335 177046336 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:177046335_177046336insA ENST00000393643.2 + 5 871_872 c.619_620insA c.(619-621)ggafs p.G207fs WDR17_ENST00000508596.1_Frame_Shift_Ins_p.G207fs|WDR17_ENST00000280190.4_Frame_Shift_Ins_p.G231fs|WDR17_ENST00000507824.2_Frame_Shift_Ins_p.G214fs NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 231 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) GGCCTTGGAATGGGACCCACTA 0.361 159 257 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186515043 186515044 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:186515043_186515044insC ENST00000431808.1 - 20 3693_3694 c.3130_3131insG c.(3130-3132)accfs p.T1044fs SORBS2_ENST00000418609.1_Frame_Shift_Ins_p.T948fs|SORBS2_ENST00000448662.2_Frame_Shift_Ins_p.T605fs|RP11-301L8.2_ENST00000411847.1_RNA|SORBS2_ENST00000449407.2_Frame_Shift_Ins_p.T588fs|SORBS2_ENST00000393528.3_Frame_Shift_Ins_p.T610fs|SORBS2_ENST00000355634.5_Frame_Shift_Ins_p.T1144fs|SORBS2_ENST00000437304.2_Frame_Shift_Ins_p.T768fs|SORBS2_ENST00000319471.9_Frame_Shift_Ins_p.T675fs|SORBS2_ENST00000284776.7_Frame_Shift_Ins_p.T1044fs O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 1044 SH3 3. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.E1044fs*8(2)|p.E605fs*8(2) endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TACTTACGGTTCCCCCCCACCT 0.356 9 230 --- --- --- --- TLR3 7098 broad.mit.edu 37 4 186997804 186997805 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:186997804_186997805insG ENST00000296795.2 + 2 135_136 c.31_32insG c.(31-33)gggfs p.G11fs NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 11 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TATCTACTTTTGGGGGGGCCTT 0.446 15 211 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187558038 187558039 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:187558038_187558039insG ENST00000441802.2 - 5 3881_3882 c.3672_3673insC c.(3670-3675)ccaatcfs p.I1225fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1225 Cadherin 10. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ATGGTTGATTTGGGGGGACTAC 0.361 HNSCC(5;0.00058) 15 664 --- --- --- --- SEMA5A 9037 broad.mit.edu 37 5 9044549 9044550 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:9044549_9044550insG ENST00000382496.5 - 22 3705_3706 c.3040_3041insC c.(3040-3042)taafs p.*1014fs CTD-2215L10.1_ENST00000506519.1_RNA NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 1014 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 GCTGGTATTAAGGGGGGCAGGT 0.525 8 568 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32090267 32090268 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:32090267_32090268insC ENST00000438447.1 + 20 7101_7102 c.6713_6714insC c.(6712-6714)cccfs p.P2238fs PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.P2238fs O15018 PDZD2_HUMAN PDZ domain containing 2 2238 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 CGGGAGGGTCACCCCCCACACA 0.639 10 523 --- --- --- --- MTMR12 54545 broad.mit.edu 37 5 32230062 32230063 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:32230062_32230063insG ENST00000382142.3 - 16 2235_2236 c.2065_2066insC c.(2065-2067)ggcfs p.G689fs MTMR12_ENST00000264934.5_Frame_Shift_Ins_p.G579fs|MTMR12_ENST00000280285.5_Frame_Shift_Ins_p.G635fs NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 689 cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GGCCTCAGCCTGGGGGGCCTGC 0.574 7 571 --- --- --- --- ADAMTS12 81792 broad.mit.edu 37 5 33881300 33881301 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:33881300_33881301insG ENST00000504830.1 - 2 747_748 c.412_413insC c.(412-414)ctgfs p.L138fs ADAMTS12_ENST00000352040.3_Frame_Shift_Ins_p.L138fs|ADAMTS12_ENST00000515401.1_Frame_Shift_Ins_p.L138fs NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 138 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.L138I(2) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GAGATGGCAGAGGGGGGCAGAG 0.540 HNSCC(64;0.19) 8 321 --- --- --- --- SLC1A3 6507 broad.mit.edu 37 5 36679798 36679799 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:36679798_36679799insG ENST00000265113.4 + 7 1406_1407 c.930_931insG c.(928-933)atggggfs p.MG310fs SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs|CTD-2353F22.1_ENST00000510740.1_RNA NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 310 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) TGGGTGTGATTGGGGGGCAGCT 0.520 9 443 --- --- --- --- EGFLAM 133584 broad.mit.edu 37 5 38407191 38407192 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:38407191_38407192insG ENST00000322350.5 + 8 1436_1437 c.1090_1091insG c.(1090-1092)gggfs p.G364fs EGFLAM_ENST00000336740.6_Frame_Shift_Ins_p.G130fs|EGFLAM_ENST00000354891.3_Frame_Shift_Ins_p.G364fs|EGFLAM_ENST00000397202.2_Intron NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 364 EGF-like 1. cell junction|proteinaceous extracellular matrix|synapse p.S367fs*12(1) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGACTACACCTGGGGGGGCTCG 0.545 10 233 --- --- --- --- C5orf34 375444 broad.mit.edu 37 5 43506338 43506339 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:43506338_43506339insA ENST00000306862.2 - 4 818_819 c.443_444insT c.(442-444)ttgfs p.L148fs RP11-159F24.3_ENST00000505645.1_RNA NM_198566.2 NP_940968.1 Q96MH7 CE034_HUMAN chromosome 5 open reading frame 34 148 breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2) 21 Lung NSC(6;2.07e-05) TAACTTTACACAAAAAATGTAC 0.366 12 488 --- --- --- --- MOCS2 4338 broad.mit.edu 37 5 52402939 52402940 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:52402939_52402940insG ENST00000361377.4 - 3 293_294 c.252_253insC c.(250-255)ccttagfs p.*85fs MOCS2_ENST00000508922.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000582677.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000510818.2_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000584946.1_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000450852.3_Frame_Shift_Ins_p.*85fs|MOCS2_ENST00000396954.3_Frame_Shift_Ins_p.L22fs O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 85 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) CCTCCACTAATGGGGGGGATAA 0.426 17 391 --- --- --- --- ERBB2IP 55914 broad.mit.edu 37 5 65370919 65370920 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:65370919_65370920insC ENST00000284037.5 + 23 4213_4214 c.3824_3825insC c.(3823-3825)cccfs p.P1275fs ERBB2IP_ENST00000416865.2_Frame_Shift_Ins_p.P473fs|ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380938.2_Frame_Shift_Ins_p.P1234fs|ERBB2IP_ENST00000506030.1_Frame_Shift_Ins_p.P1282fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Ins_p.P1230fs|ERBB2IP_ENST00000380939.2_Intron|ERBB2IP_ENST00000380943.2_Frame_Shift_Ins_p.P1234fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Ins_p.P1234fs|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000508515.1_Intron NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 1275 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) CAAATACATCACCCCCCTCAGG 0.455 8 143 --- --- --- --- MARVELD2 153562 broad.mit.edu 37 5 68728454 68728455 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:68728454_68728455insC ENST00000325631.5 + 4 1357_1358 c.1283_1284insC c.(1282-1284)accfs p.T428fs MARVELD2_ENST00000413223.2_Frame_Shift_Ins_p.T312fs NM_001038603.2|NM_001244734.1 NP_001033692.2|NP_001231663.1 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 428 sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) AGTGGACACATCCCCCCAGGCC 0.475 10 285 --- --- --- --- OCLN 100506658 broad.mit.edu 37 5 68809915 68809916 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:68809915_68809916insC ENST00000355237.2 + 4 1306_1307 c.870_871insC c.(868-873)caccccfs p.HP290fs OCLN_ENST00000538151.1_Frame_Shift_Ins_p.HP39fs|OCLN_ENST00000396442.2_Frame_Shift_Ins_p.HP290fs|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000380766.2_Intron NM_002538.3 NP_002529.1 Q16625 OCLN_HUMAN occludin 290 cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) ATGATGAGCAGCCCCCCAATGT 0.347 7 409 --- --- --- --- MAP1B 4131 broad.mit.edu 37 5 71495076 71495077 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:71495076_71495077insC ENST00000296755.7 + 5 6192_6193 c.5894_5895insC c.(5893-5895)accfs p.T1965fs NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1965 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AAGACCACCAGCCCCCCCGAAG 0.485 12 262 --- --- --- --- ENC1 8507 broad.mit.edu 37 5 73931125 73931126 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:73931125_73931126insC ENST00000302351.4 - 2 2315_2316 c.1185_1186insG c.(1183-1188)ggacacfs p.H396fs ENC1_ENST00000537006.1_Frame_Shift_Ins_p.H396fs|ENC1_ENST00000510316.1_Frame_Shift_Ins_p.H323fs NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 396 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) GCGGCCGTGTGCCCCCCAACCA 0.599 11 462 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 80074560 80074561 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:80074560_80074561insA ENST00000265081.6 + 17 2420_2421 c.2340_2341insA c.(2338-2343)ttactcfs p.L781fs NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 781 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TGAGCCGCTTTCACTCTCCTTT 0.401 Mismatch excision repair (MMR) 11 129 --- --- --- --- MAN2A1 4124 broad.mit.edu 37 5 109103387 109103388 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:109103387_109103388insT ENST00000261483.4 + 6 2039_2040 c.987_988insT c.(985-990)gattttfs p.DF329fs NM_002372.2 NP_002363.2 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 329 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) AAACATTGGAGTTTTTTTGGAG 0.396 11 855 --- --- --- --- LMNB1 4001 broad.mit.edu 37 5 126140574 126140574 + Frame_Shift_Del DEL A A - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:126140574delA ENST00000261366.5 + 2 827 c.466delA c.(466-468)aafs p.K157fs LMNB1_ENST00000395354.1_Frame_Shift_Del_p.K157fs|LMNB1_ENST00000460265.1_3'UTR NM_001198557.1|NM_005573.3 NP_001185486.1|NP_005564.1 P20700 LMNB1_HUMAN lamin B1 157 Coil 1B.|Rod. cellular component disassembly involved in apoptosis lamin filament|nuclear inner membrane protein binding|structural molecule activity p.S158fs*30(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.103)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903) ACTTGGTGACAAAAAAAGTTT 0.443 7 443 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127610310 127610311 + Frame_Shift_Ins INS - - C rs151053868 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:127610310_127610311insC ENST00000508053.1 - 66 8633_8634 c.7659_7660insG c.(7657-7662)ggttacfs p.Y2554fs FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs P35556 FBN2_HUMAN fibrillin 2 2554 EGF-like 43; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTACAGGTAAACCCCCCCAGGG 0.421 11 166 --- --- --- --- RAPGEF6 51735 broad.mit.edu 37 5 130782331 130782332 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:130782331_130782332insT ENST00000509018.1 - 22 3470_3471 c.3265_3266insA c.(3265-3267)ggcfs p.G1089fs FNIP1_ENST00000514667.1_Frame_Shift_Ins_p.G1139fs|RAPGEF6_ENST00000308008.6_Frame_Shift_Ins_p.G1089fs|RAPGEF6_ENST00000307984.5_Frame_Shift_Ins_p.G1102fs|RAPGEF6_ENST00000512052.1_Frame_Shift_Ins_p.G812fs|RAPGEF6_ENST00000296859.6_Frame_Shift_Ins_p.G1097fs|RAPGEF6_ENST00000507093.1_Frame_Shift_Ins_p.G1097fs NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 1089 Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) GCGGCGTGCCCTTTTTTTGTGA 0.450 8 339 --- --- --- --- PDLIM4 8572 broad.mit.edu 37 5 131606778 131606779 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:131606778_131606779insC ENST00000253754.3 + 4 562_563 c.498_499insC c.(496-501)ccccccfs p.PP166fs PDLIM4_ENST00000484620.1_3'UTR|PDLIM4_ENST00000379018.3_Frame_Shift_Ins_p.PP166fs|P4HA2_ENST00000471826.1_Intron NM_001131027.1|NM_003687.3 NP_001124499.1|NP_003678.2 P50479 PDLI4_HUMAN PDZ and LIM domain 4 166 protein binding|zinc ion binding p.S169fs*50(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATGTGTCTCCACCCCCCAGGTA 0.589 7 300 --- --- --- --- SLC22A5 6584 broad.mit.edu 37 5 131722730 131722731 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:131722730_131722731insC ENST00000245407.3 + 5 1059_1060 c.838_839insC c.(838-840)cccfs p.P280fs SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 280 positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) CATCCCTGAGTCCCCCCGATGG 0.545 OREG0016767 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 1222 --- --- --- --- HSPA4 3308 broad.mit.edu 37 5 132432907 132432907 + Frame_Shift_Del DEL G G - rs143003242 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:132432907delG ENST00000304858.2 + 15 2147 c.1858delG c.(1858-1860)cafs p.A620fs NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 620 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGCTAAGAACGCAGTGGAGGA 0.373 21 509 --- --- --- --- FSTL4 23105 broad.mit.edu 37 5 132534816 132534817 + Frame_Shift_Ins INS - - C rs140495211 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:132534816_132534817insC ENST00000265342.7 - 16 2748_2749 c.2499_2500insG c.(2497-2502)ggccacfs p.H834fs CTB-49A3.2_ENST00000509051.1_RNA NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 834 extracellular region calcium ion binding p.T834fs*>9(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACCACTGTGGTCCCCCCCTTTA 0.584 9 193 --- --- --- --- SEC24A 10802 broad.mit.edu 37 5 134053794 134053795 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:134053794_134053795insC ENST00000398844.2 + 20 3189_3190 c.2901_2902insC c.(2899-2904)caccccfs p.HP967fs NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 967 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCATACCTCAGCCCCCCATTCT 0.426 19 572 --- --- --- --- PCDHB12 56124 broad.mit.edu 37 5 140588663 140588664 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:140588663_140588664insG ENST00000239450.2 + 1 373_374 c.184_185insG c.(184-186)gggfs p.G62fs PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 62 Cadherin 1. 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) GCTGTCTTCGCGGGGGGCTCGG 0.510 14 407 --- --- --- --- FCHSD1 89848 broad.mit.edu 37 5 141024642 141024643 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:141024642_141024643insG ENST00000435817.2 - 14 1434_1435 c.1384_1385insC c.(1384-1386)agcfs p.S462fs FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Frame_Shift_Ins_p.S388fs|FCHSD1_ENST00000522126.1_Frame_Shift_Ins_p.S386fs NM_033449.2 NP_258260.1 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 462 FCHSD1/BRAF(2) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCAGGGCTTGGGGGGCAGGC 0.589 7 268 --- --- --- --- ARAP3 64411 broad.mit.edu 37 5 141049341 141049342 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:141049341_141049342insC ENST00000239440.4 - 16 2351_2352 c.2286_2287insG c.(2284-2289)ggggatfs p.D763fs ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 763 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TGCTGGATCCTCCCCCCAGCGA 0.579 15 665 --- --- --- --- ARAP3 64411 broad.mit.edu 37 5 141049509 141049510 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:141049509_141049510insG ENST00000239440.4 - 15 2293_2294 c.2228_2229insC c.(2227-2229)cccfs p.P743fs ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.P645fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.P405fs NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 743 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 GGTCAGTGGGTGGGGGGCTCAC 0.564 9 792 --- --- --- --- PCDH1 5097 broad.mit.edu 37 5 141242814 141242815 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:141242814_141242815insG ENST00000287008.3 - 3 3228_3229 c.3081_3082insC c.(3079-3084)ccaatafs p.I1028fs PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.I1006fs|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Frame_Shift_Ins_p.I1028fs|PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.I1016fs NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 1028 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CTGGGGTATTTGGGGGGGTTGG 0.634 18 164 --- --- --- --- PCDH12 51294 broad.mit.edu 37 5 141336747 141336748 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:141336747_141336748insG ENST00000231484.3 - 1 1879_1880 c.669_670insC c.(667-672)ccagtcfs p.V224fs NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 224 Cadherin 2. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACCTGACTTGGGGGGGTTCC 0.480 15 296 --- --- --- --- SPRY4 81848 broad.mit.edu 37 5 141694153 141694154 + Frame_Shift_Ins INS - - G rs144353509 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:141694153_141694154insG ENST00000344120.4 - 3 775_776 c.589_590insC c.(589-591)gacfs p.D197fs SPRY4_ENST00000434127.2_Frame_Shift_Ins_p.D174fs NM_030964.3 NP_112226.2 Q9C004 SPY4_HUMAN sprouty homolog 4 (Drosophila) 174 Cys-rich.|SPR. multicellular organismal development cytoplasm|ruffle membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1) 18 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCAACGTCCGGGGGGATGCA 0.609 Testicular Cancer, Familial Clustering of 10 411 --- --- --- --- PPP2R2B 5521 broad.mit.edu 37 5 145969651 145969652 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:145969651_145969652insC ENST00000394413.3 - 9 1760_1761 c.1190_1191insG c.(1189-1191)gaafs p.E397fs PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000530902.1_5'UTR Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 397 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) TTCTCCGCTTGCCCCCCACACA 0.500 14 670 --- --- --- --- SLC6A7 6534 broad.mit.edu 37 5 149581960 149581961 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:149581960_149581961insG ENST00000230671.2 + 7 1280_1281 c.909_910insG c.(907-912)ttggggfs p.LG303fs SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 303 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) GTGTGGGCTTCGGGGGGCTCCT 0.569 10 498 --- --- --- --- FAT2 2196 broad.mit.edu 37 5 150924483 150924484 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:150924483_150924484insG ENST00000261800.5 - 9 6216_6217 c.6204_6205insC c.(6202-6207)ccaattfs p.I2069fs NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2069 Cadherin 17. 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) TGCTTAAATTTGGGGGGATTGT 0.505 14 629 --- --- --- --- GALNT10 55568 broad.mit.edu 37 5 153789314 153789315 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:153789314_153789315insG ENST00000297107.6 + 9 1515_1516 c.1378_1379insG c.(1378-1380)gggfs p.G460fs SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Frame_Shift_Ins_p.G133fs|GALNT10_ENST00000377661.2_Frame_Shift_Ins_p.G398fs|SAP30L-AS1_ENST00000519727.1_RNA NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 460 Ricin B-type lectin. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GGCTGCAGCTTGGGGGGAGGTG 0.535 14 729 --- --- --- --- LARP1 23367 broad.mit.edu 37 5 154181821 154181822 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:154181821_154181822insG ENST00000336314.4 + 11 1764_1765 c.1740_1741insG c.(1738-1743)ccggggfs p.PG580fs NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 657 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCCGGCACCCAGGGGGGGACCG 0.550 8 197 --- --- --- --- KIAA1191 57179 broad.mit.edu 37 5 175774701 175774702 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:175774701_175774702insG ENST00000298569.4 - 9 1352_1353 c.819_820insC c.(817-822)ccagatfs p.D274fs KIAA1191_ENST00000393725.2_Frame_Shift_Ins_p.D255fs|KIAA1191_ENST00000510164.1_Frame_Shift_Ins_p.D274fs|KIAA1191_ENST00000393728.2_5'UTR NM_020444.3 NP_065177.2 Q96A73 K1191_HUMAN KIAA1191 274 protein binding endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.101) ATGTCCATCTTGGGGGGCTTCA 0.579 10 307 --- --- --- --- CNOT6 57472 broad.mit.edu 37 5 179994113 179994114 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr5:179994113_179994114insT ENST00000393356.1 + 10 1167_1168 c.743_744insT c.(742-744)attfs p.I248fs CNOT6_ENST00000261951.4_Frame_Shift_Ins_p.I248fs Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 248 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) CAGTATTACAGTTTTTTTCTGG 0.351 7 729 --- --- --- --- GCNT2 2651 broad.mit.edu 37 6 10557409 10557410 + Frame_Shift_Ins INS - - C rs55808116 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:10557409_10557410insC ENST00000316170.3 + 1 1170_1171 c.753_754insC c.(751-756)ccccccfs p.PP251fs GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000397423.2_Intron NM_001491.2 NP_001482.1 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 253 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TGAAACCGCCTCCCCCCCATAA 0.485 11 145 --- --- --- --- PHACTR1 221692 broad.mit.edu 37 6 13185110 13185111 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:13185110_13185111insC ENST00000379345.2 + 5 550_551 c.309_310insC c.(307-312)ctccccfs p.LP103fs PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 237 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TCCTGCTACTGCCCCCCAAAAA 0.584 18 824 --- --- --- --- PHACTR1 221692 broad.mit.edu 37 6 13206134 13206135 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:13206134_13206135insG ENST00000379350.1 + 7 881_882 c.752_753insG c.(751-753)gggfs p.G251fs PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000379345.2_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 251 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGTATGCCCGTGGGGGGGCCAG 0.599 10 195 --- --- --- --- DCDC2 51473 broad.mit.edu 37 6 24205282 24205283 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:24205282_24205283insC ENST00000378454.3 - 8 1271_1272 c.970_971insG c.(970-972)agcfs p.S324fs DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 324 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) GACTTCTGCTGCCCCCCGTGTT 0.411 16 727 --- --- --- --- ABCF1 23 broad.mit.edu 37 6 30550275 30550276 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:30550275_30550276insA ENST00000326195.8 + 9 895_896 c.783_784insA c.(781-786)ctaaaafs p.LK261fs ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Intron NM_001025091.1 NP_001020262.1 Q8NE71 ABCF1_HUMAN ATP-binding cassette, sub-family F (GCN20), member 1 261 inflammatory response|translational initiation nuclear envelope|nucleoplasm|polysomal ribosome ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2) 21 AGAAAAAGCTGAAAAAACAGGT 0.450 7 340 --- --- --- --- C6orf25 80739 broad.mit.edu 37 6 31692528 31692529 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:31692528_31692529insC ENST00000375809.3 + 5 558_559 c.547_548insC c.(547-549)cccfs p.P183fs C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 0 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 TTCAGCTCTGTCCCCCCCACAT 0.579 14 187 --- --- --- --- NELFE 7936 broad.mit.edu 37 6 31926205 31926206 + Frame_Shift_Ins INS - - G rs146039608 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:31926205_31926206insG ENST00000375429.3 - 2 244_245 c.18_19insC c.(16-21)ccgactfs p.T7fs NELFE_ENST00000444811.2_Frame_Shift_Ins_p.T7fs|NELFE_ENST00000375425.5_Frame_Shift_Ins_p.T14fs NM_002904.5 NP_002895.3 negative elongation factor complex member E TCGCTCAGTCCGGGGGGTATCA 0.545 9 759 --- --- --- --- ZBTB9 221504 broad.mit.edu 37 6 33423711 33423712 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:33423711_33423712insC ENST00000395064.2 + 2 1102_1103 c.834_835insC c.(832-837)ctccccfs p.LP278fs NM_152735.3 NP_689948.1 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 278 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 CTCCTGCACTGCCCCCCAAAAT 0.564 9 272 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34791081 34791082 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:34791081_34791082insC ENST00000192788.5 + 4 465_466 c.294_295insC c.(292-297)cgccccfs p.RP98fs UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 98 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 AGGATCCTCGGCCCCCCAATGG 0.446 17 651 --- --- --- --- MAPK14 1432 broad.mit.edu 37 6 36068005 36068006 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:36068005_36068006insC ENST00000229795.3 + 9 1170_1171 c.723_724insC c.(721-726)acccccfs p.TP241fs MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000229794.4_Intron NM_001315.2 NP_001306.1 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 241 Protein kinase. activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 TGACAGGAACACCCCCCGCTTA 0.426 11 765 --- --- --- --- TTBK1 84630 broad.mit.edu 37 6 43227329 43227330 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:43227329_43227330insC ENST00000259750.4 + 12 1392_1393 c.1309_1310insC c.(1309-1311)cccfs p.P437fs TTBK1_ENST00000304139.5_Frame_Shift_Ins_p.P386fs NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 437 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCCAGTGCGTGCCCCCCCAGAC 0.673 2 4 --- --- --- --- TNFRSF21 27242 broad.mit.edu 37 6 47252064 47252065 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:47252064_47252065insC ENST00000296861.2 - 3 1245_1246 c.852_853insG c.(850-855)ggaggafs p.G285fs NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 285 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) ACGTCTTCCTTCCCCCTTGCTG 0.540 9 2829 --- --- --- --- HCRTR2 3062 broad.mit.edu 37 6 55039410 55039411 + Frame_Shift_Ins INS - - C rs76774128 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:55039410_55039411insC ENST00000370862.3 + 1 361_362 c.25_26insC c.(25-27)cccfs p.P9fs NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 9 feeding behavior integral to plasma membrane neuropeptide receptor activity p.P11fs*11(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATTGGAGGACTCCCCCCCTTGT 0.564 29 640 --- --- --- --- KHDRBS2 202559 broad.mit.edu 37 6 62604601 62604602 + Frame_Shift_Ins INS - - C rs150391619 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:62604601_62604602insC ENST00000281156.4 - 6 1026_1027 c.748_749insG c.(748-750)accfs p.T250fs NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 250 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) CACTGTTGGTGCCCCCCGGGCT 0.540 9 103 --- --- --- --- KIAA0408 9729 broad.mit.edu 37 6 127767595 127767596 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:127767595_127767596insC ENST00000483725.3 - 5 2204_2205 c.1868_1869insG c.(1867-1869)gcafs p.A623fs SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 623 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TCACTTCCTGTCCCCCCCACAC 0.401 12 228 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146351093 146351094 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:146351093_146351094insC ENST00000392299.2 + 2 910_911 c.440_441insC c.(439-441)cccfs p.P147fs GRM1_ENST00000507907.1_Frame_Shift_Ins_p.P147fs|GRM1_ENST00000492807.2_Frame_Shift_Ins_p.P147fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.P147fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.P147fs|GRM1_ENST00000282753.1_Frame_Shift_Ins_p.P147fs Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 147 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GGCCAGTCCCTCCCCCCAGGCA 0.564 7 406 --- --- --- --- EZR 7430 broad.mit.edu 37 6 159188460 159188461 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:159188460_159188461insG ENST00000367075.3 - 13 1596_1597 c.1428_1429insC c.(1426-1431)cctgtafs p.V477fs EZR_ENST00000392177.4_Frame_Shift_Ins_p.V445fs|EZR_ENST00000337147.7_Frame_Shift_Ins_p.V477fs NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 477 Interaction with SCYL3. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) GGCTCGTACACGGGGGGTGGTG 0.619 T ROS1 NSCLC 7 348 --- --- --- --- EIF3B 8662 broad.mit.edu 37 7 2405969 2405970 + Frame_Shift_Ins INS - - C rs142377401 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:2405969_2405970insC ENST00000360876.4 + 7 1231_1232 c.1175_1176insC c.(1174-1176)accfs p.T392fs EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.T392fs NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 392 Sufficient for interaction with EIF3E. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) GTGACCTTTAGCCCCCTGATGG 0.545 8 1446 --- --- --- --- SCIN 85477 broad.mit.edu 37 7 12662466 12662470 + Frame_Shift_Del DEL ATGAT ATGAT - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:12662466_12662470delATGAT ENST00000297029.5 + 5 808_812 c.707_711delATGAT c.(706-711)gfs p.DD236fs SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000519209.1_5'UTR|SCIN_ENST00000445618.2_5'UTR NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin 236 Actin-severing (Potential). 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) GGAGGTGATGATGATGACATTATAG 0.400 67 360 --- --- --- --- HOXA3 3200 broad.mit.edu 37 7 27148083 27148084 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:27148083_27148084insC ENST00000396352.4 - 3 981_982 c.782_783insG c.(781-783)gcafs p.A261fs HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Frame_Shift_Ins_p.A261fs NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 261 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 TTGGAGACTGGCCCCCCGATGA 0.594 9 276 --- --- --- --- PPP1R17 10842 broad.mit.edu 37 7 31735178 31735179 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:31735178_31735179insA ENST00000342032.3 + 3 806_807 c.178_179insA c.(178-180)aaafs p.K60fs PPP1R17_ENST00000409146.3_Intron NM_006658.4 NP_006649.2 O96001 GSUB_HUMAN protein phosphatase 1, regulatory subunit 17 60 behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation soluble fraction TGAGTCAGACCAAAAAAAACCA 0.436 13 255 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55221747 55221748 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:55221747_55221748insC ENST00000275493.2 + 7 968_969 c.791_792insC c.(790-792)tccfs p.S264fs EGFR_ENST00000420316.2_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000455089.1_Frame_Shift_Ins_p.S219fs|EGFR_ENST00000442591.1_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000342916.3_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000344576.2_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000454757.2_Frame_Shift_Ins_p.S211fs NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 264 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AAGGACACCTGCCCCCCACTCA 0.579 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 7 305 --- --- --- --- CLIP2 7461 broad.mit.edu 37 7 73731912 73731913 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:73731912_73731913insG ENST00000223398.6 + 2 363_364 c.36_37insG c.(34-39)cgggggfs p.RG12fs CLIP2_ENST00000395060.1_Frame_Shift_Ins_p.RG12fs|CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.RG12fs NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 12 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 CCCCCGGCCGTGGGGGGAAGCA 0.658 9 855 --- --- --- --- TMEM60 85025 broad.mit.edu 37 7 77423460 77423460 + Frame_Shift_Del DEL T T - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:77423460delT ENST00000257663.3 - 2 607 c.231delA c.(229-231)aafs p.K77fs NM_032936.3 NP_116325.1 Q9H2L4 TMM60_HUMAN transmembrane protein 60 77 integral to membrane endometrium(1)|large_intestine(1)|lung(2) 4 GGTACCAGGCTTTTTTTTTAA 0.408 7 369 --- --- --- --- ABCB4 5244 broad.mit.edu 37 7 87081037 87081038 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:87081037_87081038insA ENST00000265723.4 - 7 720_721 c.609_610insT c.(607-612)ttcaggfs p.R204fs ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.R204fs NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 204 ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) ATGAATCCTGCAAAAAACGTGG 0.446 20 2182 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91732038 91732039 + Frame_Shift_Ins INS - - G rs143306820 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:91732038_91732039insG ENST00000359028.2 + 46 11465_11466 c.11240_11241insG c.(11239-11241)aggfs p.R3747fs AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3747 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus 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) CTTGCCCGGATGGGGGGGCAGC 0.535 T BRAF papillary thyroid 18 383 --- --- --- --- LAMTOR4 389541 broad.mit.edu 37 7 99751180 99751181 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:99751180_99751181insG ENST00000441173.1 + 3 277_278 c.242_243insG c.(241-243)gggfs p.G81fs LAMTOR4_ENST00000468582.1_Intron|LAMTOR4_ENST00000341942.5_Intron late endosomal/lysosomal adaptor, MAPK and MTOR activator 4 GTACTGGGAGCGGGGGGCTACT 0.639 8 288 --- --- --- --- PCOLCE 5118 broad.mit.edu 37 7 100205413 100205414 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:100205413_100205414insC ENST00000223061.5 + 8 1446_1447 c.1166_1167insC c.(1165-1167)tccfs p.S389fs NM_002593.3 NP_002584.2 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 389 NTR. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity p.M392fs*>59(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGCAAGCAGTGCCCCCCCATGA 0.510 8 139 --- --- --- --- SRRT 51593 broad.mit.edu 37 7 100479331 100479332 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:100479331_100479332insG ENST00000388793.4 + 4 523_524 c.303_304insG c.(301-306)gcggggfs p.AG101fs SRRT_ENST00000347433.4_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000457580.2_Frame_Shift_Ins_p.AG101fs|SRRT_ENST00000432932.1_Frame_Shift_Ins_p.AG101fs NM_001128852.1|NM_015908.5 NP_001122324.1|NP_056992.4 Q9BXP5 SRRT_HUMAN serrate RNA effector molecule homolog (Arabidopsis) 101 cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding p.G104fs*45(1) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 TGCCCTATGCTGGGGGGGGTGG 0.609 18 165 --- --- --- --- MUC3A 4584 broad.mit.edu 37 7 100549838 100549839 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:100549838_100549839insC ENST00000379458.4 + 2 419_420 c.419_420insC c.(418-420)cccfs p.P140fs MUC3A_ENST00000483366.1_3'UTR mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 ACCATCTCCCACCCCACCTCCA 0.540 7 655 --- --- --- --- AP1S1 1174 broad.mit.edu 37 7 100802404 100802405 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:100802404_100802405insG ENST00000337619.5 + 4 474_475 c.356_357insG c.(355-357)aggfs p.R119fs NM_001283.3 NP_001274.1 P61966 AP1S1_HUMAN adaptor-related protein complex 1, sigma 1 subunit 119 intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane protein binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2) 8 Lung NSC(181;0.168)|all_lung(186;0.215) GAGTTTTTGATGGGGGGGGATG 0.564 33 326 --- --- --- --- CCDC136 64753 broad.mit.edu 37 7 128457829 128457830 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:128457829_128457830insC ENST00000297788.4 + 17 3748_3749 c.3381_3382insC c.(3379-3384)aaccccfs p.NP1127fs CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 1127 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 CTACCCCCAATCCCCCCATCTT 0.520 13 1574 --- --- --- --- KDM7A 80853 broad.mit.edu 37 7 139820279 139820280 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:139820279_139820280insC ENST00000397560.2 - 8 1198_1199 c.1101_1102insG c.(1099-1104)ggacttfs p.L368fs JHDM1D_ENST00000006967.5_Frame_Shift_Ins_p.L368fs NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 368 JmjC. midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TGCAGGAAGTTCCCCCCAAAAG 0.356 17 833 --- --- --- --- TRBV4-2 28616 broad.mit.edu 37 7 142045511 142045512 + RNA INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:142045511_142045512insC ENST00000390392.3 + 0 160 TTTGTCCCTTTCCCCCCGCAGT 0.485 11 507 --- --- --- --- TRBV6-4 28603 broad.mit.edu 37 7 142250763 142250764 + RNA INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:142250763_142250764insG ENST00000390360.3 - 0 303_304 CGCCAACGTGAGGGGGAAATCA 0.495 8 453 --- --- --- --- PRSS3P2 154754 broad.mit.edu 37 7 142478881 142478882 + RNA INS - - AG TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:142478881_142478882insAG ENST00000603901.1 + 0 40 NR_001296.3 GAGCTGCTGGTGAGTTTCATGC 0.554 8 108 --- --- --- --- TRPV5 56302 broad.mit.edu 37 7 142612493 142612494 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:142612493_142612494insC ENST00000265310.1 - 10 1617_1618 c.1269_1270insG c.(1267-1272)ggcattfs p.I424fs NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 424 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity 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) ACATGGAATGGCCCCCCAAGAA 0.505 8 419 --- --- --- --- AGAP3 116988 broad.mit.edu 37 7 150814456 150814457 + Splice_Site INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr7:150814456_150814457insG ENST00000397238.2 + 4 478 c.e4-1 AGAP3_ENST00000463381.1_Splice_Site|AGAP3_ENST00000476375.1_Splice_Site|AGAP3_ENST00000335367.3_Splice_Site|AGAP3_ENST00000473312.1_Splice_Site|AGAP3_ENST00000479901.1_Splice_Site NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 GCTCTGTCCTAGGGGGGCGGTT 0.579 8 919 --- --- --- --- MYOM2 9172 broad.mit.edu 37 8 2088682 2088683 + Frame_Shift_Ins INS - - G rs34620424 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:2088682_2088683insG ENST00000262113.4 + 33 3978_3979 c.3837_3838insG c.(3835-3840)atggggfs p.MG1279fs MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs|MYOM2_ENST00000520298.1_3'UTR NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 1279 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ATATGAGAATCGGGGGGAGTGA 0.446 9 702 --- --- --- --- CSMD1 64478 broad.mit.edu 37 8 3267089 3267090 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:3267089_3267090insG ENST00000520002.1 - 14 2157_2158 c.1602_1603insC c.(1600-1605)cccctafs p.L535fs CSMD1_ENST00000602723.1_Frame_Shift_Ins_p.L535fs|CSMD1_ENST00000400186.3_Frame_Shift_Ins_p.L535fs|CSMD1_ENST00000542608.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000539096.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000537824.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000602557.1_Frame_Shift_Ins_p.L535fs Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 535 Sushi 3. 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) TTCCCATAGGCGGGGATTCCAG 0.480 19 60 --- --- --- --- PRSS55 203074 broad.mit.edu 37 8 10387069 10387070 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:10387069_10387070insG ENST00000328655.3 + 2 247_248 c.207_208insG c.(205-210)acggggfs p.TG69fs PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Frame_Shift_Ins_p.TG69fs NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 69 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 CCAGAATCACAGGGGGGATGGA 0.500 21 2840 --- --- --- --- PSD3 23362 broad.mit.edu 37 8 18413784 18413785 + Frame_Shift_Ins INS - - G rs28651847 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:18413784_18413785insG ENST00000440756.2 - 15 2970_2971 c.2868_2869insC c.(2866-2871)ccacaafs p.Q957fs PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 956 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity p.D421Y(1)|p.D957Y(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) ACCTTCTTGTCGGGGGGATATG 0.480 13 1091 --- --- --- --- UNC5D 137970 broad.mit.edu 37 8 35584019 35584020 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:35584019_35584020insG ENST00000287272.2 + 9 1466_1467 c.1446_1447insG c.(1444-1449)ttggggfs p.LG482fs UNC5D_ENST00000420357.1_Frame_Shift_Ins_p.LG484fs|UNC5D_ENST00000416672.1_Frame_Shift_Ins_p.LG556fs|UNC5D_ENST00000404895.2_Frame_Shift_Ins_p.LG551fs|UNC5D_ENST00000449677.1_Frame_Shift_Ins_p.LG127fs|UNC5D_ENST00000453357.2_Frame_Shift_Ins_p.LG546fs Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 551 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTGGCCATTTAGGGGGGCGCTT 0.411 8 628 --- --- --- --- KCNU1 157855 broad.mit.edu 37 8 36768517 36768518 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:36768517_36768518insC ENST00000399881.3 + 22 2438_2439 c.2401_2402insC c.(2401-2403)cccfs p.P801fs NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 801 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TGCTGTCTTGTCCCCCCCACCC 0.525 10 333 --- --- --- --- ARFGEF1 10565 broad.mit.edu 37 8 68128855 68128856 + Frame_Shift_Ins INS - - G rs142098461 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:68128855_68128856insG ENST00000262215.3 - 33 5044_5045 c.4655_4656insC c.(4654-4656)cccfs p.P1552fs ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1552 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding 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) GAGATGGAGGTGGGGGGGCAGT 0.421 17 195 --- --- --- --- TRPA1 8989 broad.mit.edu 37 8 72981375 72981376 + Frame_Shift_Ins INS - - T rs61753713 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:72981375_72981376insT ENST00000262209.4 - 3 533_534 c.326_327insA c.(325-327)acafs p.T109fs NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 109 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) TTTCAATTTGGTTTTTTTCTAC 0.401 7 794 --- --- --- --- KLHL38 340359 broad.mit.edu 37 8 124664918 124664919 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr8:124664918_124664919insG ENST00000325995.7 - 1 271_272 c.248_249insC c.(247-249)cacfs p.H83fs CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 83 BTB. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 GGTCCAGGGTTGGGGGGTCAAT 0.579 11 397 --- --- --- --- RLN2 6019 broad.mit.edu 37 9 5304560 5304561 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:5304560_5304561insA ENST00000381627.3 - 1 408_409 c.20_21insT c.(19-21)tcafs p.S7fs RLN2_ENST00000308420.3_Frame_Shift_Ins_p.S7fs NM_134441.2 NP_604390.1 P04090 REL2_HUMAN relaxin 2 7 female pregnancy extracellular region hormone activity endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 11 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) CTAGCAGGTGGAAAAAAAACAG 0.535 7 154 --- --- --- --- FREM1 158326 broad.mit.edu 37 9 14848680 14848681 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:14848680_14848681insG ENST00000380881.4 - 8 2061_2062 c.1246_1247insC c.(1246-1248)tgtfs p.C416fs FREM1_ENST00000380880.3_Frame_Shift_Ins_p.C415fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.C415fs Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 415 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) CCAGGATACACGGGGGGCATTT 0.426 17 620 --- --- --- --- BNC2 54796 broad.mit.edu 37 9 16436374 16436375 + Frame_Shift_Ins INS - - G rs116528562 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:16436374_16436375insG ENST00000380672.4 - 6 1874_1875 c.1817_1818insC c.(1816-1818)cccfs p.P606fs BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs|BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs|BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 606 Pro-rich. 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) CAGAGGGTGGCGGGGGGTGCTG 0.564 13 750 --- --- --- --- ADAMTSL1 92949 broad.mit.edu 37 9 18829842 18829843 + Splice_Site INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:18829842_18829843insC ENST00000380548.4 + 23 4455_4456 c.4114_splice c.e23-1 p.DP1372_splice ADAMTSL1_ENST00000380545.5_Splice_Site_p.DP73_splice NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 1372 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) TTCTCACAGATCCCCCCCAAGT 0.564 8 118 --- --- --- --- TEK 7010 broad.mit.edu 37 9 27185544 27185545 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:27185544_27185545insC ENST00000380036.4 + 9 1686_1687 c.1244_1245insC c.(1243-1245)cccfs p.P415fs TEK_ENST00000519097.1_Frame_Shift_Ins_p.P268fs|TEK_ENST00000406359.4_Frame_Shift_Ins_p.P372fs NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 415 Ig-like C2-type 2. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) CACCGGATCCTCCCCCCTGACT 0.436 8 639 --- --- --- --- PIGO 84720 broad.mit.edu 37 9 35091522 35091523 + Frame_Shift_Ins INS - - G rs144233446 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:35091522_35091523insG ENST00000378617.3 - 7 2755_2756 c.2361_2362insC c.(2359-2364)cccttcfs p.F788fs PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 788 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity p.T788fs*5(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GCTTGAGAAGTGGGGGGGCCTG 0.604 13 121 --- --- --- --- C9orf85 138241 broad.mit.edu 37 9 74526716 74526717 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:74526716_74526717insA ENST00000486911.2 + 1 140_141 c.66_67insA c.(64-69)ttaaaafs p.LK22fs C9orf85_ENST00000377031.3_Frame_Shift_Ins_p.LK22fs|C9orf85_ENST00000334731.2_Frame_Shift_Ins_p.LK22fs Q96MD7 CI085_HUMAN chromosome 9 open reading frame 85 22 kidney(2)|large_intestine(1)|lung(4) 7 CGTTTAGCTTCAAAAATGACAA 0.535 8 835 --- --- --- --- PCSK5 5125 broad.mit.edu 37 9 78686773 78686774 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:78686773_78686774insC ENST00000545128.1 + 7 1391_1392 c.853_854insC c.(853-855)cccfs p.P285fs PCSK5_ENST00000376752.4_Frame_Shift_Ins_p.P285fs|PCSK5_ENST00000376767.3_Frame_Shift_Ins_p.P285fs NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 285 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GGACGGACCAGCCCCCCTCACC 0.515 7 1010 --- --- --- --- TLE1 7088 broad.mit.edu 37 9 84208131 84208132 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:84208131_84208132insG ENST00000376499.3 - 15 2453_2454 c.1389_1390insC c.(1387-1392)ccacgcfs p.R464fs NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 464 DA -> TP (in Ref. 1; AAA61192). negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 ATGAGGGCGTCGGGGGGAAAAG 0.564 14 361 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94493291 94493292 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:94493291_94493292insC ENST00000375708.3 - 7 1281_1282 c.1083_1084insG c.(1081-1086)ggacgcfs p.R362fs ROR2_ENST00000375715.1_Frame_Shift_Ins_p.R222fs|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 362 Kringle. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding 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 CAGTAGGCGTGCCCCCCTCCAA 0.629 9 523 --- --- --- --- ANKRD19P 138649 broad.mit.edu 37 9 95649123 95649124 + RNA INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:95649123_95649124insC ENST00000473204.1 + 0 2259 GCAATCTAGCACCCCCCAAAAG 0.540 12 180 --- --- --- --- ZNF510 22869 broad.mit.edu 37 9 99521719 99521719 + Frame_Shift_Del DEL A A - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:99521719delA ENST00000375231.1 - 6 2043 c.1393delT c.(1393-1395)gtfs p.C465fs ZNF510_ENST00000223428.4_Frame_Shift_Del_p.C465fs Q9Y2H8 ZN510_HUMAN zinc finger protein 510 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) GTTTTTCCACATTCATTACAT 0.373 7 231 --- --- --- --- ABCA1 19 broad.mit.edu 37 9 107593322 107593323 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:107593322_107593323insC ENST00000374736.3 - 14 2169_2170 c.1775_1776insG c.(1774-1776)gttfs p.V592fs NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 592 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGTAGGCGAAGCCCCCCCAGAC 0.540 21 251 --- --- --- --- C9orf152 401546 broad.mit.edu 37 9 112963553 112963554 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:112963553_112963554insG ENST00000400613.4 - 2 1003_1004 c.394_395insC c.(394-396)ggafs p.G132fs C9orf152_ENST00000473442.1_Intron NM_001012993.2 NP_001013011.2 Q5JTZ5 CI152_HUMAN chromosome 9 open reading frame 152 132 NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 ACTGGTGTCCTGGGGGGAGGTT 0.564 10 774 --- --- --- --- AMBP 259 broad.mit.edu 37 9 116824991 116824992 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:116824991_116824992insC ENST00000265132.3 - 7 912_913 c.650_651insG c.(649-651)gggfs p.G217fs NM_001633.3 NP_001624.1 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin precursor 217 Glycopeptide (secretory piece). cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) CCAGTTGCCCACCCCCTGATCC 0.545 7 541 --- --- --- --- CRB2 286204 broad.mit.edu 37 9 126125160 126125161 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:126125160_126125161insC ENST00000373631.3 + 2 112_113 c.111_112insC c.(109-114)gaccccfs p.DP37fs CRB2_ENST00000359999.3_Frame_Shift_Ins_p.DP37fs NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 37 extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 TGCCTTCAGAGCCCCCCAGTGC 0.649 7 100 --- --- --- --- LRSAM1 90678 broad.mit.edu 37 9 130236098 130236099 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:130236098_130236099insC ENST00000323301.4 + 10 1242_1243 c.638_639insC c.(637-639)tccfs p.S213fs LRSAM1_ENST00000373322.1_Frame_Shift_Ins_p.S213fs|LRSAM1_ENST00000373324.4_Frame_Shift_Ins_p.S213fs|LRSAM1_ENST00000300417.6_Frame_Shift_Ins_p.S213fs NM_138361.5 NP_612370.3 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif containing 1 213 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 CTGGAATACTACCCCCCTTCTC 0.579 16 1760 --- --- --- --- CERCAM 51148 broad.mit.edu 37 9 131186543 131186544 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:131186543_131186544insC ENST00000372842.1 + 5 3463_3464 c.319_320insC c.(319-321)cccfs p.P107fs CERCAM_ENST00000372838.4_Frame_Shift_Ins_p.P185fs Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 185 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 GTGTGGGATCACCCCCCAGGTG 0.634 9 481 --- --- --- --- COL5A1 1289 broad.mit.edu 37 9 137717708 137717709 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:137717708_137717709insG ENST00000371817.3 + 63 5439_5440 c.5025_5026insG c.(5023-5028)gcggggfs p.AG1675fs NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1675 Fibrillar collagen NC1. 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 p.G1676W(1)|p.A1675A(1) 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) ACTTCACAGCCGGGGGGTCGAC 0.594 8 245 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139390735 139390736 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:139390735_139390736insG ENST00000277541.6 - 34 7530_7531 c.7455_7456insC c.(7453-7458)cccgcafs p.A2486fs NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2486 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CTGTGCTGCGAGGGGGGCGTCA 0.683 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 7 217 --- --- --- --- ZMYND19 116225 broad.mit.edu 37 9 140481541 140481542 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:140481541_140481542insC ENST00000298585.2 - 4 462_463 c.236_237insG c.(235-237)ggtfs p.G79fs ZMYND19_ENST00000471957.1_5'UTR NM_138462.2 NP_612471.1 Q96E35 ZMY19_HUMAN zinc finger, MYND-type containing 19 79 Golgi apparatus|plasma membrane zinc ion binding p.V80fs*34(2) endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047) CCGGGGCCACGCCCCCCCGGTG 0.634 74 1468 --- --- --- --- EHMT1 79813 broad.mit.edu 37 9 140622908 140622909 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr9:140622908_140622909insC ENST00000460843.1 + 4 777_778 c.750_751insC c.(748-753)ttccccfs p.FP250fs EHMT1_ENST00000334856.6_Frame_Shift_Ins_p.FP219fs|EHMT1_ENST00000462484.1_Frame_Shift_Ins_p.FP250fs|EHMT1_ENST00000371394.2_3'UTR NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 250 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) AGCAGCTTTTACCCCCCTTCCC 0.480 7 468 --- --- --- --- NUDT5 11164 broad.mit.edu 37 10 12219814 12219815 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:12219814_12219815insC ENST00000491614.1 - 5 661_662 c.266_267insG c.(265-267)gtafs p.V89fs NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Frame_Shift_Ins_p.V102fs|NUDT5_ENST00000378940.3_Frame_Shift_Ins_p.V89fs|NUDT5_ENST00000537776.1_Frame_Shift_Ins_p.V89fs|NUDT5_ENST00000378927.3_Frame_Shift_Ins_p.V89fs Q9UKK9 NUDT5_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 5 89 Nudix hydrolase. D-ribose catabolic process|ribonucleoside diphosphate catabolic process intracellular ADP-ribose diphosphatase activity|magnesium ion binding breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1) 8 Renal(717;0.228) CTATGCAGTAGCCCCCCATTGG 0.520 8 563 --- --- --- --- ZNF32 7580 broad.mit.edu 37 10 44139605 44139605 + Frame_Shift_Del DEL G G - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:44139605delG ENST00000395797.1 - 3 903 c.715delC c.(715-717)acfs p.H239fs ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Frame_Shift_Del_p.H239fs NM_001005368.1 NP_001005368.1 P17041 ZNF32_HUMAN zinc finger protein 32 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 14 all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157) Lung(62;0.179) TCTCCTGTGTGGATTTTGCCA 0.547 7 31 --- --- --- --- FAM21EP 100421577 broad.mit.edu 37 10 51821327 51821328 + RNA INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:51821327_51821328insG ENST00000456967.1 - 0 1306_1307 NR_038275.1 TCGGTCAGCTTGGGGGGTGCGA 0.520 15 990 --- --- --- --- SEC24C 9632 broad.mit.edu 37 10 75525559 75525560 + Splice_Site INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:75525559_75525560insC ENST00000339365.2 + 11 1530_1531 c.1366_splice c.e11-1 p.VP456_splice SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 456 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) TTCCCACAGTTCCCCCCCAGTA 0.510 20 533 --- --- --- --- ZSWIM8 23053 broad.mit.edu 37 10 75560463 75560464 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:75560463_75560464insC ENST00000604729.1 + 24 5365_5366 c.5068_5069insC c.(5068-5070)cccfs p.P1690fs ZSWIM8_ENST00000603114.1_Frame_Shift_Ins_p.P1652fs|ZSWIM8_ENST00000604524.1_Frame_Shift_Ins_p.P1511fs|NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000398706.2_Frame_Shift_Ins_p.P1698fs|ZSWIM8_ENST00000605216.1_Frame_Shift_Ins_p.P1693fs zinc finger, SWIM-type containing 8 CTTCTCCCGCTCCCCCCCCTAC 0.604 47 390 --- --- --- --- CDHR1 92211 broad.mit.edu 37 10 85972096 85972097 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:85972096_85972097insC ENST00000372117.3 + 15 1818_1819 c.1715_1716insC c.(1714-1716)cccfs p.P572fs CDHR1_ENST00000440770.2_Frame_Shift_Ins_p.P276fs|CDHR1_ENST00000332904.3_Frame_Shift_Ins_p.P572fs NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 572 Cadherin 5. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 GTCAATGACCACCCCCCTCAGT 0.510 11 282 --- --- --- --- TLL2 7093 broad.mit.edu 37 10 98164994 98164995 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:98164994_98164995insG ENST00000357947.3 - 10 1486_1487 c.1261_1262insC c.(1261-1263)tttfs p.F421fs TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 421 CUB 1. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding 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) CTTACCCAAAAGGGGGGCTTTT 0.480 7 1115 --- --- --- --- UBTD1 80019 broad.mit.edu 37 10 99330115 99330116 + Frame_Shift_Ins INS - - CT TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:99330115_99330116insCT ENST00000370664.3 + 3 855_856 c.519_520insCT c.(517-522)catcaafs p.Q174fs NM_024954.3 NP_079230.1 Q9HAC8 UBTD1_HUMAN ubiquitin domain containing 1 174 Ubiquitin-like. central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1) 7 Colorectal(252;0.162) Epithelial(162;3.04e-10)|all cancers(201;2.86e-08) CAGTGGGGCAGCTCAAGAGGCA 0.678 14 13 --- --- --- --- CPN1 1369 broad.mit.edu 37 10 101816832 101816833 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:101816832_101816833insG ENST00000370418.3 - 6 1199_1200 c.948_949insC c.(946-951)ccaagafs p.R317fs NM_001308.2 NP_001299.1 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 317 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 33 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) AACTCCTCTTCGGGGGGAAACT 0.470 23 1416 --- --- --- --- SEC31B 25956 broad.mit.edu 37 10 102265153 102265154 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:102265153_102265154insG ENST00000370345.3 - 10 1240_1241 c.1143_1144insC c.(1141-1146)ccaatgfs p.M382fs SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 382 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CTAATCCATTTGGGGGGTTTTT 0.490 26 2052 --- --- --- --- SEC31B 25956 broad.mit.edu 37 10 102265254 102265255 + Splice_Site INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:102265254_102265255insG ENST00000370345.3 - 10 1142 c.e10-2 SEC31B_ENST00000451524.1_Splice_Site NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) AGAGGAGATCTGGGGGGAAAAG 0.530 9 500 --- --- --- --- BTRC 8945 broad.mit.edu 37 10 103310572 103310573 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:103310572_103310573insC ENST00000370187.3 + 14 1891_1892 c.1773_1774insC c.(1771-1776)gaccccfs p.DP591fs BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000493877.1_3'UTR NM_033637.3 NP_378663.1 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing E3 ubiquitin protein ligase 591 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) CCCAAGCTGAACCCCCCCGTTC 0.431 11 197 --- --- --- --- DMBT1 1755 broad.mit.edu 37 10 124402882 124402883 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr10:124402882_124402883insC ENST00000338354.3 + 53 7316_7317 c.7210_7211insC c.(7210-7212)cccfs p.P2404fs DMBT1_ENST00000344338.3_Frame_Shift_Ins_p.P2394fs|DMBT1_ENST00000359586.6_Frame_Shift_Ins_p.P1124fs|DMBT1_ENST00000368955.3_Frame_Shift_Ins_p.P2394fs|DMBT1_ENST00000330163.4_Frame_Shift_Ins_p.P1776fs|DMBT1_ENST00000368956.2_Frame_Shift_Ins_p.P1776fs|DMBT1_ENST00000368909.3_Frame_Shift_Ins_p.P2404fs Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2404 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 calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface 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) CCAGCTGCAGACCCCCCCACGC 0.644 8 45 --- --- --- --- OR52B6 340980 broad.mit.edu 37 11 5602545 5602546 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:5602545_5602546insC ENST00000345043.2 + 1 439_440 c.439_440insC c.(439-441)cccfs p.P147fs HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCATCTGCTCCCCCCTGCGA 0.510 9 611 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6655045 6655046 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:6655045_6655046insG ENST00000299441.3 - 4 2603_2604 c.2192_2193insC c.(2191-2193)cctfs p.P731fs RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 731 Cadherin 7. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGTAAAAAGTGGGGGGCTGTT 0.604 8 444 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6661724 6661725 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:6661724_6661725insG ENST00000299441.3 - 2 1531_1532 c.1120_1121insC c.(1120-1122)agtfs p.S374fs NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 374 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCAGACACTTGGGGGGAGCCA 0.569 9 335 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6662141 6662142 + Frame_Shift_Ins INS - - G rs143767864 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:6662141_6662142insG ENST00000299441.3 - 2 1114_1115 c.703_704insC c.(703-705)gagfs p.E235fs NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 235 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R235Q(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGCCCTCCGGGGGGGTGAA 0.589 19 316 --- --- --- --- PAX6 5080 broad.mit.edu 37 11 31812316 31812317 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:31812316_31812317insG ENST00000419022.1 - 13 1634_1635 c.1166_1167insC c.(1165-1167)ccafs p.P389fs PAX6_ENST00000379107.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379132.3_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379129.2_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379115.4_Frame_Shift_Ins_p.P389fs|PAX6_ENST00000379123.5_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000241001.8_Frame_Shift_Ins_p.P375fs|PAX6_ENST00000379111.2_Frame_Shift_Ins_p.P375fs NM_001127612.1|NM_001258462.1|NM_001258463.1 NP_001121084.1|NP_001245391.1|NP_001245392.1 P26367 PAX6_HUMAN paired box 6 375 Pro/Ser/Thr-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) TCTGCATATGTGGGGGGGTGTA 0.589 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 13 149 --- --- --- --- PRR5L 79899 broad.mit.edu 37 11 36484165 36484166 + Frame_Shift_Ins INS - - C rs143061946 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:36484165_36484166insC ENST00000378867.3 + 10 1341_1342 c.986_987insC c.(985-987)tccfs p.S329fs PRR5L_ENST00000530639.1_Frame_Shift_Ins_p.S329fs|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Frame_Shift_Ins_p.S256fs NM_024841.4 NP_079117.3 Q6MZQ0 PRR5L_HUMAN proline rich 5 like 329 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 CCACCCAGCTTCCCCCCGCCCC 0.673 7 311 --- --- --- --- LRP4 4038 broad.mit.edu 37 11 46900582 46900588 + Splice_Site DEL TGTAGAC TGTAGAC - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:46900582_46900588delTGTAGAC ENST00000378623.1 - 22 3248_3254 c.3004_splice c.e22-1 p.VST1002_splice NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1002 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) TAGCACATGGTGTAGACACTGGGTAGA 0.594 62 455 --- --- --- --- PTPRJ 5795 broad.mit.edu 37 11 48149449 48149450 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:48149449_48149450insG ENST00000418331.2 + 7 1563_1564 c.1211_1212insG c.(1210-1212)gggfs p.G404fs PTPRJ_ENST00000440289.2_Frame_Shift_Ins_p.G404fs NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 404 Fibronectin type-III 4. contact inhibition|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 MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|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 ATACATGTGGCGGGGGAGACAG 0.535 9 1046 --- --- --- --- OR4S1 256148 broad.mit.edu 37 11 48328524 48328525 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:48328524_48328525insC ENST00000319988.1 + 1 750_751 c.750_751insC c.(748-753)atccccfs p.IP250fs NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 TGGTTCTCATGCCCCCCATGTT 0.480 10 409 --- --- --- --- OR5AK2 390181 broad.mit.edu 37 11 56756931 56756932 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:56756931_56756932insC ENST00000326855.2 + 1 585_586 c.543_544insC c.(541-546)gtccccfs p.VP181fs NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 TCTGTGATGTTCCCCCTATTCT 0.406 8 1490 --- --- --- --- SMTNL1 219537 broad.mit.edu 37 11 57308986 57308987 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:57308986_57308987insG ENST00000457912.1 + 1 8_9 c.8_9insG c.(7-9)cggfs p.R3fs E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 0 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 CCCATGCTCCCGGGGGCAGTTG 0.525 10 1109 --- --- --- --- ZDHHC5 25921 broad.mit.edu 37 11 57464257 57464258 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:57464257_57464258insC ENST00000287169.3 + 10 2396_2397 c.1034_1035insC c.(1033-1035)accfs p.T345fs ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.T292fs NM_015457.2 NP_056272.2 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC-type containing 5 345 integral to membrane acyltransferase activity|zinc ion binding endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1) 18 GCCAAGGACAGCCCCCCGACAC 0.515 14 381 --- --- --- --- TMX2 51075 broad.mit.edu 37 11 57505845 57505846 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:57505845_57505846insC ENST00000278422.4 + 4 396_397 c.384_385insC c.(382-387)aaccccfs p.NP128fs TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 128 Thioredoxin. cell redox homeostasis integral to membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2) 12 TGACGTGCAAACCCCCCCTATA 0.421 15 349 --- --- --- --- DTX4 23220 broad.mit.edu 37 11 58962826 58962827 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:58962826_58962827insC ENST00000227451.3 + 7 1624_1625 c.1520_1521insC c.(1519-1521)accfs p.T507fs DTX4_ENST00000532982.1_Frame_Shift_Ins_p.T401fs NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex homolog 4 (Drosophila) 507 Notch signaling pathway cytoplasm zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) ATCTACAGCATCCCCCCCGGCA 0.505 10 326 --- --- --- --- DDB1 1642 broad.mit.edu 37 11 61094367 61094368 + Splice_Site INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:61094367_61094368insG ENST00000301764.7 - 5 947 c.e5-2 DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 CTGAGGGTCCTGGGGGGGAAAG 0.515 Nucleotide excision repair (NER) 18 502 --- --- --- --- STIP1 10963 broad.mit.edu 37 11 63965370 63965370 + Frame_Shift_Del DEL A A - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:63965370delA ENST00000358794.5 + 8 1641 c.1088delA c.(1087-1089)tcfs p.Y363fs STIP1_ENST00000305218.4_Frame_Shift_Del_p.Y316fs|STIP1_ENST00000538945.1_Frame_Shift_Del_p.Y292fs P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 316 axon guidance|response to stress Golgi apparatus|nucleus endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1) 27 GAAGAAAAGTACAAGGATGCC 0.453 82 324 --- --- --- --- RASGRP2 10235 broad.mit.edu 37 11 64508387 64508388 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:64508387_64508388insC ENST00000394430.1 - 4 2125_2126 c.403_404insG c.(403-405)actfs p.T135fs RASGRP2_ENST00000377497.3_Intron|RASGRP2_ENST00000394429.1_3'UTR|RASGRP2_ENST00000394432.3_Intron|RASGRP2_ENST00000377494.1_Intron|RASGRP2_ENST00000377486.3_Frame_Shift_Ins_p.T135fs|RASGRP2_ENST00000377487.1_Frame_Shift_Ins_p.T135fs|RASGRP2_ENST00000377489.1_Frame_Shift_Ins_p.T135fs|RASGRP2_ENST00000354024.3_Intron|RASGRP2_ENST00000394428.1_3'UTR Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 0 platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GATACTGAGTGCCCCCCCAGCC 0.530 OREG0004006 type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 13 146 --- --- --- --- YIF1A 10897 broad.mit.edu 37 11 66052322 66052323 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:66052322_66052323insG ENST00000471387.2 - 5 581_582 c.327_328insC c.(325-330)ccttccfs p.S110fs YIF1A_ENST00000376901.4_Intron|YIF1A_ENST00000359461.6_Intron|CNIH2_ENST00000530519.1_Intron|YIF1A_ENST00000526497.1_Intron|YIF1A_ENST00000496746.1_Intron O95070 YIF1A_HUMAN Yip1 interacting factor homolog A (S. cerevisiae) 253 protein transport|vesicle-mediated transport centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 9 GGCAGGGGAATGGGGGGGTGCA 0.629 8 53 --- --- --- --- ACTN3 89 broad.mit.edu 37 11 66321993 66321994 + RNA INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:66321993_66321994insC ENST00000502692.1 + 0 714 ACTN3_ENST00000513398.1_RNA NM_001258371.1 NP_001245300.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 TCCTCCCACCTCCCCCCGACCC 0.530 14 608 --- --- --- --- PPFIA1 8500 broad.mit.edu 37 11 70194406 70194407 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:70194406_70194407insC ENST00000253925.7 + 16 2258_2259 c.2043_2044insC c.(2041-2046)atccccfs p.IP681fs AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Frame_Shift_Ins_p.IP681fs NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 681 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TGAGCTCCATTCCCCCCTACCC 0.554 28 2329 --- --- --- --- NUMA1 4926 broad.mit.edu 37 11 71746964 71746965 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:71746964_71746965insC ENST00000393695.3 - 3 356_357 c.25_26insG c.(25-27)tgcfs p.C9fs NUMA1_ENST00000351960.6_Frame_Shift_Ins_p.C9fs|NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C9fs NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 9 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 GAGGAGTGCAGCCCCCCGGGTG 0.505 T RARA APL 9 289 --- --- --- --- RSF1 51773 broad.mit.edu 37 11 77412023 77412024 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:77412023_77412024insG ENST00000308488.6 - 6 2552_2553 c.2250_2251insC c.(2248-2253)ccaagtfs p.S751fs RSF1_ENST00000360355.2_Frame_Shift_Ins_p.S720fs|RSF1_ENST00000480887.1_Frame_Shift_Ins_p.S499fs Q96T23 RSF1_HUMAN remodeling and spacing factor 1 751 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TCTAGAACTTTGGGGGGAGAAT 0.411 7 324 --- --- --- --- KIAA1377 57562 broad.mit.edu 37 11 101786091 101786092 + Frame_Shift_Ins INS - - C rs146972831 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:101786091_101786092insC ENST00000263468.8 + 1 346_347 c.76_77insC c.(76-78)cccfs p.P26fs ANGPTL5_ENST00000334289.3_Intron NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 26 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) CCTCGACAGAGCCCCCCTCGGC 0.663 9 927 --- --- --- --- NCAM1 4684 broad.mit.edu 37 11 113076860 113076861 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:113076860_113076861insG ENST00000316851.7 + 4 556_557 c.556_557insG c.(556-558)gggfs p.G186fs NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 196 Ig-like C2-type 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AATCCTGGCACGGGGGGAGATC 0.495 8 396 --- --- --- --- CLDN25 644672 broad.mit.edu 37 11 113650550 113650551 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:113650550_113650551insG ENST00000453129.2 + 1 82_83 c.33_34insG c.(31-36)ctggggfs p.LG11fs NM_001101389.1 NP_001094859.1 C9JDP6 CLD25_HUMAN claudin 25 11 integral to membrane|tight junction structural molecule activity p.L14fs*24(1) large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2) 10 AAGTCCAGCTCGGGGGGCTACT 0.550 9 245 --- --- --- --- SIK3 23387 broad.mit.edu 37 11 116733010 116733011 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:116733010_116733011insC ENST00000375300.1 - 16 1997_1998 c.1992_1993insG c.(1990-1995)ggagatfs p.D665fs SIK3_ENST00000446921.2_Frame_Shift_Ins_p.D665fs|SIK3_ENST00000292055.4_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000375288.1_Frame_Shift_Ins_p.E38fs|SIK3_ENST00000542607.1_Frame_Shift_Ins_p.D607fs|SIK3_ENST00000434315.2_Frame_Shift_Ins_p.D506fs|SIK3_ENST00000488337.1_5'UTR Q9Y2K2 SIK3_HUMAN SIK family kinase 3 607 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 TCATCAATCTGCCCCCCGTACA 0.500 19 723 --- --- --- --- NLRX1 79671 broad.mit.edu 37 11 119050610 119050611 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:119050610_119050611insG ENST00000409109.1 + 7 2467_2468 c.1880_1881insG c.(1879-1881)aggfs p.R627fs NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000292199.2_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409991.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000525863.1_Frame_Shift_Ins_p.R627fs|NLRX1_ENST00000409265.4_Frame_Shift_Ins_p.R627fs Q86UT6 NLRX1_HUMAN NLR family member X1 627 Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CCCATGTTCATGGGGGGGCTTC 0.624 7 130 --- --- --- --- OR10G8 219869 broad.mit.edu 37 11 123900396 123900397 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:123900396_123900397insC ENST00000431524.1 + 1 100_101 c.67_68insC c.(67-69)cccfs p.P23fs NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A23T(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AGCGCTGGACGCCCCCCTCTTT 0.589 13 535 --- --- --- --- ROBO4 54538 broad.mit.edu 37 11 124756678 124756679 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr11:124756678_124756679insG ENST00000306534.3 - 16 2960_2961 c.2475_2476insC c.(2473-2478)ccccacfs p.H826fs ROBO4_ENST00000533054.1_Frame_Shift_Ins_p.H681fs|RP11-664I21.5_ENST00000524453.1_RNA NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 826 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CCATAGGTGGTGGGGGGTGAAG 0.599 8 790 --- --- --- --- FKBP4 2288 broad.mit.edu 37 12 2907010 2907011 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:2907010_2907011insC ENST00000001008.4 + 3 553_554 c.366_367insC c.(364-369)atccccfs p.IP122fs RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA NM_002014.3 NP_002005.1 Q02790 FKBP4_HUMAN FK506 binding protein 4, 59kDa 122 PPIase FKBP-type 1. negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding axonal growth cone|cytosol|membrane|microtubule|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1) 14 OV - Ovarian serous cystadenocarcinoma(31;0.00105) Dimethyl sulfoxide(DB01093) CTCCAAAGATTCCCCCCAATGC 0.554 9 1087 --- --- --- --- KCNA5 3741 broad.mit.edu 37 12 5154786 5154787 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:5154786_5154787insG ENST00000252321.3 + 1 1702_1703 c.1473_1474insG c.(1471-1476)gtggggfs p.VG491fs NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 491 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 CCATCACTGTTGGGGGCAAGAT 0.599 18 1978 --- --- --- --- MRPL51 51258 broad.mit.edu 37 12 6602094 6602095 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:6602094_6602095insG ENST00000229238.3 - 2 584_585 c.123_124insC c.(121-126)ccaagtfs p.S42fs MRPL51_ENST00000543703.1_Intron|MRPL51_ENST00000543164.1_5'UTR NM_016497.3 NP_057581.2 Q4U2R6 RM51_HUMAN mitochondrial ribosomal protein L51 42 translation mitochondrial large ribosomal subunit protein binding|structural constituent of ribosome kidney(2)|large_intestine(1)|lung(3) 6 TCAACCACTTTGGGGGGCGGGA 0.510 25 1169 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6701872 6701873 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:6701872_6701873insG ENST00000309577.6 - 18 2926_2927 c.2763_2764insC c.(2761-2766)ccagagfs p.E922fs CHD4_ENST00000544040.1_Frame_Shift_Ins_p.E915fs|CHD4_ENST00000544484.1_Frame_Shift_Ins_p.E919fs|CHD4_ENST00000357008.2_Frame_Shift_Ins_p.E922fs Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 922 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding p.P921P(2) central_nervous_system(2) 2 TGGAACCTCTCGGGGGTGAGAA 0.421 7 769 --- --- --- --- CD4 920 broad.mit.edu 37 12 6924042 6924043 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:6924042_6924043insG ENST00000011653.4 + 5 749_750 c.491_492insG c.(490-492)cggfs p.R164fs CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule 164 Ig-like C2-type 1. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) AAAAACATACAGGGGGGGAAGA 0.564 27 518 --- --- --- --- CD4 920 broad.mit.edu 37 12 6927635 6927636 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:6927635_6927636insG ENST00000011653.4 + 8 1463_1464 c.1205_1206insG c.(1204-1206)cggfs p.R402fs NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule 402 cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) CTGATTGTGCTGGGGGGCGTCG 0.629 7 370 --- --- --- --- HEBP1 50865 broad.mit.edu 37 12 13142224 13142225 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:13142224_13142225insC ENST00000536942.1 - 2 353_354 c.203_204insG c.(202-204)gacfs p.D68fs HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs Q9NRV9 HEBP1_HUMAN heme binding protein 1 68 circadian rhythm extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 7 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.153) TGTCATTGGTGCCCCCCGCATA 0.554 9 548 --- --- --- --- GRIN2B 2904 broad.mit.edu 37 12 14018756 14018757 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:14018756_14018757insC ENST00000279593.3 - 2 595_596 c.386_387insG c.(385-387)gtcfs p.V129fs NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 129 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCATAGAGGAGCCCCCGTGGAT 0.520 8 1221 --- --- --- --- GRIN2B 2904 broad.mit.edu 37 12 14019043 14019044 + Frame_Shift_Ins INS - - G rs77738206 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:14019043_14019044insG ENST00000279593.3 - 2 308_309 c.99_100insC c.(97-102)ccgcatfs p.H34fs NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 34 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGCCAATGCTGGGGGGGCTCT 0.589 35 572 --- --- --- --- GUCY2C 2984 broad.mit.edu 37 12 14825856 14825857 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:14825856_14825857insC ENST00000261170.3 - 9 1256_1257 c.1120_1121insG c.(1120-1122)tgtfs p.C374fs RP11-174G6.1_ENST00000501178.2_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 374 intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 ACTGTCAACATCCCCCCAGTCA 0.470 13 1342 --- --- --- --- ART4 420 broad.mit.edu 37 12 14993710 14993711 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:14993710_14993711insC ENST00000228936.4 - 2 902_903 c.521_522insG c.(520-522)aatfs p.N174fs C12orf60_ENST00000527783.1_Intron NM_021071.2 NP_066549.2 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 174 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3) 15 TCTCCATGATGCTGTCTTTCCT 0.480 7 457 --- --- --- --- SLCO1C1 53919 broad.mit.edu 37 12 20885883 20885884 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:20885883_20885884insG ENST00000381552.1 + 10 1595_1596 c.1227_1228insG c.(1225-1230)tcggggfs p.SG409fs SLCO1C1_ENST00000545102.1_Frame_Shift_Ins_p.SG291fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Ins_p.SG409fs|SLCO1C1_ENST00000540354.1_Frame_Shift_Ins_p.SG360fs|SLCO1C1_ENST00000266509.2_Frame_Shift_Ins_p.SG409fs Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 409 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) GAATATTCTCTGGGGGGATAGT 0.381 7 445 --- --- --- --- ASIC1 41 broad.mit.edu 37 12 50453702 50453703 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:50453702_50453703insG ENST00000228468.4 + 3 908_909 c.523_524insG c.(523-525)gggfs p.G175fs ASIC1_ENST00000447966.2_Frame_Shift_Ins_p.G175fs NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 175 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CTGCCACTTCCGGGGGGAGGTC 0.594 14 179 --- --- --- --- ASIC1 41 broad.mit.edu 37 12 50471134 50471135 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:50471134_50471135insG ENST00000228468.4 + 4 1082_1083 c.697_698insG c.(697-699)gggfs p.G233fs ASIC1_ENST00000447966.2_Frame_Shift_Ins_p.G233fs|ASIC1_ENST00000552438.1_Frame_Shift_Ins_p.G267fs NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 233 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CCTGCCTGTGTGGGGGGAGACT 0.649 9 314 --- --- --- --- SPRYD3 84926 broad.mit.edu 37 12 53468917 53468917 + Frame_Shift_Del DEL C C - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:53468917delC ENST00000301463.4 - 4 419 c.333delG c.(331-333)tgfs p.W111fs SPRYD3_ENST00000547837.1_Frame_Shift_Del_p.W148fs NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 111 B30.2/SPRY. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 AGTCAGGCAACCAGCCAGGCT 0.532 18 161 --- --- --- --- TARBP2 6895 broad.mit.edu 37 12 53898183 53898184 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:53898183_53898184insC ENST00000266987.2 + 5 908_909 c.425_426insC c.(424-426)accfs p.T142fs TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.T51fs|TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.T121fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.T121fs NM_134323.1 NP_599150.1 Q15633 TRBP2_HUMAN TAR (HIV-1) RNA binding protein 2 142 miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex double-stranded RNA binding|protein homodimerization activity|siRNA binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3) 10 TCCTTCAGGAGCCCCCCCATGG 0.564 7 83 --- --- --- --- GPR84 53831 broad.mit.edu 37 12 54757553 54757554 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:54757553_54757554insC ENST00000551809.1 - 1 717_718 c.82_83insG c.(82-84)ggtfs p.G28fs RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Frame_Shift_Ins_p.G28fs Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 28 integral to membrane|plasma membrane G-protein coupled receptor activity p.V28G(1) NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 AGCCACCACCACCCCCCAGCTA 0.564 9 214 --- --- --- --- ITGA5 3678 broad.mit.edu 37 12 54801454 54801454 + Frame_Shift_Del DEL T T - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:54801454delT ENST00000293379.4 - 9 1146 c.885delA c.(883-885)aafs p.K295fs RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 295 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 TGAGGTTCCCTTTGGGCACAC 0.522 11 167 --- --- --- --- PDE1B 5153 broad.mit.edu 37 12 54971059 54971060 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:54971059_54971060insC ENST00000243052.3 + 15 1994_1995 c.1558_1559insC c.(1558-1560)cccfs p.P520fs PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 520 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TGAAGAAGAGGCCCCCCCATCC 0.559 18 596 --- --- --- --- NEUROD4 58158 broad.mit.edu 37 12 55421127 55421128 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:55421127_55421128insC ENST00000242994.3 + 2 1282_1283 c.904_905insC c.(904-906)cccfs p.P302fs NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 302 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 TCAGGCTGGTACCCCCCGTTAT 0.465 10 1126 --- --- --- --- ESYT1 23344 broad.mit.edu 37 12 56531341 56531342 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:56531341_56531342insG ENST00000394048.5 + 18 2261_2262 c.1997_1998insG c.(1996-1998)tggfs p.W666fs ESYT1_ENST00000267113.4_Frame_Shift_Ins_p.W676fs|ESYT1_ENST00000541590.1_Frame_Shift_Ins_p.W676fs NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 666 C2 3. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 GACCGTTTCTTGGGGGGACTGG 0.550 16 1310 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56558259 56558260 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:56558259_56558260insG ENST00000550164.1 - 28 3502_3503 c.3488_3489insC c.(3487-3489)cccfs p.P1163fs RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.P1132fs|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1132 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) GCAGGTTAGGTGGGGGGAGAGT 0.614 9 629 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56575340 56575341 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:56575340_56575341insC ENST00000394023.3 - 10 986_987 c.881_882insG c.(880-882)gaafs p.E294fs RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.E294fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.E294fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.E294fs NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 294 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TCTTATAGTTTCCCCCCTTCTT 0.515 13 648 --- --- --- --- STAT2 6773 broad.mit.edu 37 12 56742816 56742817 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:56742816_56742817insG ENST00000314128.4 - 17 1490_1491 c.1467_1468insC c.(1465-1470)ccaggcfs p.G490fs STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000556539.1_5'UTR P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 490 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 CAGGGGGCCTTGGGGGGGTTGG 0.594 19 281 --- --- --- --- GLS2 27165 broad.mit.edu 37 12 56867067 56867067 + Frame_Shift_Del DEL T T - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:56867067delT ENST00000311966.4 - 14 1672 c.1394delA c.(1393-1395)acfs p.N465fs NM_013267.2 NP_037399.2 Q9UI32 GLSL_HUMAN glutaminase 2 (liver, mitochondrial) 465 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTGCCTCAGGTTGTCATAGTT 0.423 19 384 --- --- --- --- GLI1 2735 broad.mit.edu 37 12 57860074 57860075 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:57860074_57860075insG ENST00000228682.2 + 8 905_906 c.814_815insG c.(814-816)gggfs p.G272fs GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 272 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CGTGTGCCACTGGGGGGGCTGC 0.599 58 762 --- --- --- --- GLI1 2735 broad.mit.edu 37 12 57865760 57865761 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:57865760_57865761insC ENST00000228682.2 + 12 3328_3329 c.3237_3238insC c.(3235-3240)ggccccfs p.GP1079fs GLI1_ENST00000543426.1_Frame_Shift_Ins_p.GP951fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.GP1038fs NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 1079 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CTCCCTCTGGGCCCCCCAACAT 0.554 12 852 --- --- --- --- DCTN2 10540 broad.mit.edu 37 12 57927805 57927806 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:57927805_57927806insG ENST00000548249.1 - 7 866_867 c.599_600insC c.(598-600)cgafs p.R200fs DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs|DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs NM_001261412.1|NM_001261413.1 NP_001248341.1|NP_001248342.1 Q13561 DCTN2_HUMAN dynactin 2 (p50) 200 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2) 11 GGCTGCTATCTGGGGGGGTCCC 0.500 18 344 --- --- --- --- MDM2 4193 broad.mit.edu 37 12 69233089 69233090 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:69233089_69233090insC ENST00000462284.1 + 11 1256_1257 c.954_955insC c.(952-957)aaccccfs p.NP318fs MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 312 Necessary for interaction with USP2.|Region II. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ATGAAATGAATCCCCCCCTTCC 0.426 A """sarcoma, glioma, colorectal, other""" 13 272 --- --- --- --- BEST3 144453 broad.mit.edu 37 12 70049361 70049362 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:70049361_70049362insG ENST00000330891.5 - 10 1558_1559 c.1332_1333insC c.(1330-1335)ccgggcfs p.PG444fs BEST3_ENST00000553096.1_Frame_Shift_Ins_p.PG338fs|BEST3_ENST00000488961.1_Frame_Shift_Ins_p.PG231fs|BEST3_ENST00000331471.4_Intron NM_032735.2 NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 444 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) GGTGAGGCCCTGGGGGGGTTTC 0.594 10 190 --- --- --- --- NAV3 89795 broad.mit.edu 37 12 78400511 78400512 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:78400511_78400512insC ENST00000397909.2 + 8 1366_1367 c.1193_1194insC c.(1192-1194)cccfs p.P398fs NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs Q8IVL0 NAV3_HUMAN neuron navigator 3 398 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACTGCTTTACGCCCCCCGCAGC 0.495 HNSCC(70;0.22) 31 796 --- --- --- --- RFX4 5992 broad.mit.edu 37 12 107126021 107126022 + Frame_Shift_Del DEL AG AG - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:107126021_107126022delAG ENST00000392842.1 + 14 1879_1880 c.1465_1466delAG c.(1465-1467)cfs p.S489fs RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Frame_Shift_Del_p.S395fs|RFX4_ENST00000357881.4_Frame_Shift_Del_p.S498fs|RP11-482D24.3_ENST00000552415.1_RNA NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 489 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 GGGAGAAGGAAGCACTGGTAAG 0.431 40 453 --- --- --- --- UBE3B 89910 broad.mit.edu 37 12 109927823 109927824 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:109927823_109927824insC ENST00000537063.1 + 8 881_882 c.644_645insC c.(643-645)tccfs p.S215fs UBE3B_ENST00000540230.1_Intron|UBE3B_ENST00000340074.5_Intron|UBE3B_ENST00000434735.2_Intron|UBE3B_ENST00000342494.3_Intron|UBE3B_ENST00000536398.1_Intron|UBE3B_ENST00000280774.5_Intron Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 0 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 TGTGACTCCTGCCCCCCAGTGT 0.465 9 318 --- --- --- --- HVCN1 84329 broad.mit.edu 37 12 111099018 111099019 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:111099018_111099019insG ENST00000356742.5 - 3 1009_1010 c.256_257insC c.(256-258)tgafs p.*86fs HVCN1_ENST00000548312.1_Frame_Shift_Ins_p.*86fs|HVCN1_ENST00000439744.2_Frame_Shift_Ins_p.*66fs|HVCN1_ENST00000242607.8_Frame_Shift_Ins_p.*86fs Q96D96 HVCN1_HUMAN hydrogen voltage-gated channel 1 86 response to pH|response to zinc ion integral to membrane voltage-gated proton channel activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 19 CCTGAAGTCAAGGGGGGCCCTG 0.658 7 976 --- --- --- --- BRAP 8315 broad.mit.edu 37 12 112082051 112082052 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:112082051_112082052insC ENST00000419234.4 - 12 1923_1924 c.1730_1731insG c.(1729-1731)gagfs p.E577fs BRAP_ENST00000539060.1_Frame_Shift_Ins_p.E398fs|BRAP_ENST00000327551.6_Frame_Shift_Ins_p.E547fs NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 577 MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 ACTTCCCACTGCCCCCCGAAGA 0.604 9 243 --- --- --- --- ALDH2 217 broad.mit.edu 37 12 112229926 112229927 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:112229926_112229927insG ENST00000261733.2 + 8 918_919 c.857_858insG c.(856-858)cggfs p.R286fs ALDH2_ENST00000416293.3_Frame_Shift_Ins_p.R239fs NM_000690.3 NP_000681.2 P05091 ALDH2_HUMAN aldehyde dehydrogenase 2 family (mitochondrial) 286 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity p.K289fs*45(2) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) ACCTTGGAGCTGGGGGGGAAGA 0.574 T HMGA2 leiomyoma 34 615 --- --- --- --- HECTD4 283450 broad.mit.edu 37 12 112690348 112690349 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:112690348_112690349insG ENST00000377560.5 - 22 3310_3311 c.2915_2916insC c.(2914-2916)ctcfs p.L972fs HECTD4_ENST00000550722.1_Intron|HECTD4_ENST00000430131.2_Frame_Shift_Ins_p.L722fs HECT domain containing E3 ubiquitin protein ligase 4 AATTTAAGGAAGGGGGGGAAAT 0.396 11 189 --- --- --- --- SLC8B1 80024 broad.mit.edu 37 12 113758305 113758306 + Splice_Site INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:113758305_113758306insG ENST00000552014.1 - 8 1042 c.e8-2 SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site Q6J4K2 NCKX6_HUMAN response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 CGCCAGCGCCTGGGGGGAGGAG 0.644 15 676 --- --- --- --- KSR2 283455 broad.mit.edu 37 12 117977604 117977605 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:117977604_117977605insG ENST00000425217.1 - 10 1573_1574 c.1519_1520insC c.(1519-1521)cccfs p.P507fs KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 536 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) ACTAGGAGGGAGGGGGGGTGCT 0.634 7 248 --- --- --- --- MSI1 4440 broad.mit.edu 37 12 120800902 120800903 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:120800902_120800903insC ENST00000257552.2 - 6 433_434 c.345_346insG c.(343-348)ggtgtcfs p.V116fs NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 116 RRM 2. nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTCACCGACAGCCCCCCCACAA 0.564 18 221 --- --- --- --- LRRC43 254050 broad.mit.edu 37 12 122670832 122670833 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:122670832_122670833insC ENST00000339777.4 + 3 535_536 c.507_508insC c.(505-510)ctccccfs p.LP169fs LRRC43_ENST00000425921.1_5'UTR NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 169 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) CCACCAATCTGCCCCCCACACT 0.569 7 132 --- --- --- --- VPS33A 65082 broad.mit.edu 37 12 122720396 122720397 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:122720396_122720397insC ENST00000267199.4 - 11 1488_1489 c.1376_1377insG c.(1375-1377)gagfs p.E459fs RP11-512M8.5_ENST00000535844.1_Frame_Shift_Ins_p.E420fs NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 459 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AATTGTTTCTGCCCCCCGTCTG 0.495 25 893 --- --- --- --- CCDC62 84660 broad.mit.edu 37 12 123276590 123276591 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:123276590_123276591insA ENST00000253079.6 + 6 1038_1039 c.694_695insA c.(694-696)aaafs p.K232fs CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392441.4_Frame_Shift_Ins_p.K232fs NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 232 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) AAAGACGACAGAAAATAATGAG 0.381 9 998 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124885064 124885065 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:124885064_124885065insG ENST00000356219.3 - 16 1950_1951 c.1795_1796insC c.(1795-1797)gcafs p.A599fs NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.A599fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.A598fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.A169fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.A598fs|NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.A599fs NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 599 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|histone deacetylase binding|Notch 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) GGCGCTCTGCTGGGGGGTGATG 0.624 7 401 --- --- --- --- PXMP2 5827 broad.mit.edu 37 12 133277869 133277870 + Frame_Shift_Ins INS - - G rs141115887 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr12:133277869_133277870insG ENST00000545677.1 + 3 250_251 c.47_48insG c.(46-48)gggfs p.G16fs PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.G52fs|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000317479.3_Frame_Shift_Ins_p.G145fs Q9NR77 PXMP2_HUMAN peroxisomal membrane protein 2, 22kDa 0 integral to membrane|peroxisomal membrane protein binding large_intestine(1)|liver(2)|lung(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06) CGCCAAGATGAGGGGGGGCTTC 0.614 11 223 --- --- --- --- MRPS31 10240 broad.mit.edu 37 13 41340958 41340959 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr13:41340958_41340959insG ENST00000323563.6 - 2 399_400 c.363_364insC c.(361-366)ccaaagfs p.PK121fs NM_005830.3 NP_005821.2 Q92665 RT31_HUMAN mitochondrial ribosomal protein S31 121 mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) GGTCTTCTTTTGGGGGGCTTTG 0.366 8 190 --- --- --- --- OR4Q3 441669 broad.mit.edu 37 14 20215682 20215683 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:20215682_20215683insT ENST00000331723.1 + 1 96_97 c.96_97insT c.(94-99)ttttttfs p.FF32fs NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TACTATTTTTGTTTTTTTACAT 0.381 8 363 --- --- --- --- OR4M1 441670 broad.mit.edu 37 14 20248930 20248931 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:20248930_20248931insG ENST00000315957.4 + 1 530_531 c.449_450insG c.(448-450)aggfs p.R150fs NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 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) CTCTCCTGGATGGGGGGCTTCA 0.505 7 651 --- --- --- --- OR4N5 390437 broad.mit.edu 37 14 20612063 20612064 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:20612063_20612064insC ENST00000333629.1 + 1 169_170 c.169_170insC c.(169-171)cccfs p.P57fs NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 57 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) TGGGCTCACAGCCCCCCTCTAT 0.460 9 941 --- --- --- --- ARHGEF40 55701 broad.mit.edu 37 14 21546603 21546604 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:21546603_21546604insG ENST00000298694.4 + 10 2329_2330 c.2202_2203insG c.(2200-2205)gaggggfs p.EG734fs ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 734 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 TGCAGAGGGATGGGGGGGCCAT 0.629 11 227 --- --- --- --- OR10G2 26534 broad.mit.edu 37 14 22102924 22102925 + Frame_Shift_Ins INS - - G rs150140072 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:22102924_22102925insG ENST00000542433.1 - 1 171_172 c.74_75insC c.(73-75)caafs p.Q25fs NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TTCTTAGATTTGGGGGGTGAGA 0.480 16 255 --- --- --- --- SLC7A8 23428 broad.mit.edu 37 14 23608664 23608665 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:23608664_23608665insG ENST00000316902.7 - 6 1605_1606 c.880_881insC c.(880-882)ggafs p.G294fs SLC7A8_ENST00000453702.1_Frame_Shift_Ins_p.G91fs|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000422941.2_Frame_Shift_Ins_p.G70fs|SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000529705.2_Frame_Shift_Ins_p.G189fs NM_012244.3 NP_036376.2 Q9UHI5 LAT2_HUMAN solute carrier family 7 (amino acid transporter light chain, L system), member 8 294 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1) 24 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) CAGCAGCTCCTGGGGGGACATT 0.520 8 1275 --- --- --- --- LRRC16B 90668 broad.mit.edu 37 14 24532702 24532703 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:24532702_24532703insC ENST00000342740.5 + 31 3093_3094 c.2939_2940insC c.(2938-2940)cccfs p.P980fs LRRC16B_ENST00000334420.7_Frame_Shift_Ins_p.P76fs NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 980 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) GGGAGGCCCCGCCCCCCCAGGA 0.594 10 83 --- --- --- --- IPO4 79711 broad.mit.edu 37 14 24655355 24655356 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:24655355_24655356insG ENST00000354464.6 - 11 1214_1215 c.1038_1039insC c.(1036-1041)ccagaafs p.E347fs RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 347 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) CAGAGCTTCTCGGGGGGCAGGT 0.589 9 372 --- --- --- --- CTSG 1511 broad.mit.edu 37 14 25042847 25042848 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:25042847_25042848insG ENST00000216336.2 - 5 799_800 c.763_764insC c.(763-765)gtgfs p.V255fs NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 255 immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) AGTCAGTCACAGGGGGGTCTCC 0.490 15 2335 --- --- --- --- HECTD1 25831 broad.mit.edu 37 14 31590706 31590706 + Frame_Shift_Del DEL C C - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:31590706delC ENST00000399332.1 - 28 5609 c.5121delG c.(5119-5121)ctfs p.L1707fs HECTD1_ENST00000553700.1_Frame_Shift_Del_p.L1707fs NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1707 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) ATGGGCGTCTCAGAATCTAAA 0.478 26 323 --- --- --- --- PSMA6 5687 broad.mit.edu 37 14 35782215 35782216 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:35782215_35782216insA ENST00000261479.4 + 5 658_659 c.538_539insA c.(538-540)aaafs p.K180fs PSMA6_ENST00000553809.1_Frame_Shift_Ins_p.K186fs|KIAA0391_ENST00000557565.1_3'UTR|PSMA6_ENST00000540871.1_Frame_Shift_Ins_p.K161fs|PSMA6_ENST00000556506.1_Frame_Shift_Ins_p.K180fs|PSMA6_ENST00000555764.1_Frame_Shift_Ins_p.K101fs NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 180 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) CAGCTTCCTTGAAAAAAAAGTG 0.406 7 299 --- --- --- --- CDKL1 8814 broad.mit.edu 37 14 50862468 50862468 + Frame_Shift_Del DEL T T - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:50862468delT ENST00000216378.2 - 2 766 c.122delA c.(121-123)gtfs p.D42fs CDKL1_ENST00000395834.1_Frame_Shift_Del_p.D42fs|CDKL1_ENST00000356146.1_5'UTR Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 (CDC2-related kinase) 41 Protein kinase. cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1) 12 all_epithelial(31;0.000746)|Breast(41;0.0102) GACAGGGTCATCTTCTGATTC 0.403 44 127 --- --- --- --- NID2 22795 broad.mit.edu 37 14 52481916 52481917 + Frame_Shift_Ins INS - - T rs946615 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:52481916_52481917insT ENST00000216286.5 - 15 3104_3105 c.3105_3106insA c.(3103-3108)cgatgafs p.*1036fs NID2_ENST00000541773.1_Frame_Shift_Ins_p.*935fs NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 1036 Thyroglobulin type-1 2. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) TACTGGTCATCCCGGGGGGTGC 0.629 7 216 --- --- --- --- FBXO34 55030 broad.mit.edu 37 14 55818226 55818227 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:55818226_55818227insC ENST00000313833.4 + 2 1363_1364 c.1118_1119insC c.(1117-1119)tccfs p.S373fs FBXO34_ENST00000440021.1_Frame_Shift_Ins_p.S373fs NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 373 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 TCTCAGGACTGCCCCCCATTGC 0.530 7 420 --- --- --- --- FNTB 2342 broad.mit.edu 37 14 65520040 65520041 + Frame_Shift_Ins INS - - G rs149471226 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:65520040_65520041insG ENST00000246166.2 + 10 1274_1275 c.1040_1041insG c.(1039-1041)gggfs p.G347fs CHURC1-FNTB_ENST00000448390.2_Frame_Shift_Ins_p.G103fs|CHURC1-FNTB_ENST00000542227.1_Frame_Shift_Ins_p.G301fs|CHURC1-FNTB_ENST00000447296.2_Frame_Shift_Ins_p.G381fs|MAX_ENST00000341653.2_Intron NM_002028.3 NP_002019.1 farnesyltransferase, CAAX box, beta p.A347A(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) CAGTGCCCTGCGGGGGGGCTTC 0.599 11 256 --- --- --- --- GALNT16 57452 broad.mit.edu 37 14 69800299 69800300 + Frame_Shift_Ins INS - - G rs144140025 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:69800299_69800300insG ENST00000337827.4 + 9 1276_1277 c.949_950insG c.(949-951)gggfs p.G317fs GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 GATGGACATCTGGGGGGGAGAG 0.470 11 233 --- --- --- --- MED6 10001 broad.mit.edu 37 14 71051554 71051555 + Frame_Shift_Ins INS - - G rs145634622 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:71051554_71051555insG ENST00000256379.5 - 8 745_746 c.716_717insC c.(715-717)cgafs p.R239fs MED6_ENST00000440435.2_3'UTR|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs NM_005466.2 NP_005457.2 O75586 MED6_HUMAN mediator complex subunit 6 239 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex transcription coactivator activity p.E240fs*1(1) large_intestine(2)|lung(2)|skin(1) 5 all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352) TCCGTTTTTCAGGGGGGCCTTT 0.450 13 858 --- --- --- --- PCNX 22990 broad.mit.edu 37 14 71444748 71444749 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:71444748_71444749insA ENST00000304743.2 + 6 2140_2141 c.1694_1695insA c.(1693-1695)gaafs p.E565fs PCNX_ENST00000439984.3_Frame_Shift_Ins_p.E565fs|PCNX_ENST00000238570.5_Frame_Shift_Ins_p.E565fs NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 565 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) AGACGCACAGGAAAAAAACGGG 0.475 10 1061 --- --- --- --- GPR65 8477 broad.mit.edu 37 14 88477555 88477555 + Frame_Shift_Del DEL T T - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:88477555delT ENST00000267549.3 + 2 922 c.364delT c.(364-366)ttfs p.F124fs RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 124 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 CCCTTTGAAGTTTTTTTTCCT 0.428 7 1097 --- --- --- --- SERPINA1 5265 broad.mit.edu 37 14 94844884 94844885 + Frame_Shift_Ins INS - - G rs143329723 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:94844884_94844885insG ENST00000448921.1 - 7 1730_1731 c.1158_1159insC c.(1156-1161)ccaggtfs p.G387fs SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.G387fs NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 387 RCL. E -> K (in Christchurch). acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) AACTTGACCTCGGGGGGGATAG 0.490 11 278 --- --- --- --- AHNAK2 113146 broad.mit.edu 37 14 105416915 105416927 + Frame_Shift_Del DEL CCATGCTGGACAG CCATGCTGGACAG - rs71421895 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:105416915_105416927delCCATGCTGGACAG ENST00000333244.5 - 7 4980_4992 c.4861_4873delCTGTCCAGCATGG c.(4861-4875)agfs p.LSSME1621fs AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1621 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACGTCCACCTCCATGCTGGACAGAGACATCTTC 0.606 8 85 --- --- --- --- AHNAK2 113146 broad.mit.edu 37 14 105417410 105417422 + Frame_Shift_Del DEL CCACGCTGGGCAG CCACGCTGGGCAG - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr14:105417410_105417422delCCACGCTGGGCAG ENST00000333244.5 - 7 4485_4497 c.4366_4378delCTGCCCAGCGTGG c.(4366-4380)agfs p.LPSVE1456fs AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1456 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACATCCACCTCCACGCTGGGCAGAGAAACCTCC 0.577 13 59 --- --- --- --- OR4M2 390538 broad.mit.edu 37 15 22369023 22369024 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:22369023_22369024insG ENST00000332663.2 + 1 546_547 c.448_449insG c.(448-450)gggfs p.G150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R150M(2)|p.R150W(1) 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) TCTCTCCTGGAGGGGGGGCTTC 0.500 39 875 --- --- --- --- TRPM1 4308 broad.mit.edu 37 15 31355449 31355450 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:31355449_31355450insC ENST00000542188.1 - 7 1200_1201 c.887_888insG c.(886-888)gccfs p.A296fs TRPM1_ENST00000397795.2_Frame_Shift_Ins_p.A257fs|TRPM1_ENST00000256552.6_Frame_Shift_Ins_p.A279fs NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 257 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CCACGTTAGGGCCCCCCTCCAC 0.614 7 352 --- --- --- --- RYR3 6263 broad.mit.edu 37 15 34078053 34078054 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:34078053_34078054insC ENST00000389232.4 + 66 9529_9530 c.9459_9460insC c.(9457-9462)ctccccfs p.LP3153fs RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3153 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) CTGAGAACCTGCCCCCCAGCAC 0.564 12 337 --- --- --- --- THBS1 7057 broad.mit.edu 37 15 39881488 39881489 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:39881488_39881489insC ENST00000260356.5 + 12 2024_2025 c.1859_1860insC c.(1858-1860)tccfs p.S620fs NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 620 EGF-like 2; calcium-binding (Potential). activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) TGCCTGCCCTGCCCCCCACGCT 0.569 8 514 --- --- --- --- BMF 90427 broad.mit.edu 37 15 40396470 40396471 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:40396470_40396471insG ENST00000354670.4 - 4 597_598 c.363_364insC c.(361-366)ccaaggfs p.R122fs BMF_ENST00000559701.1_Intron|BMF_ENST00000220446.4_Intron|BMF_ENST00000558774.1_Intron|BMF_ENST00000431415.3_Frame_Shift_Ins_p.R122fs|BMF_ENST00000397573.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000561360.1_Frame_Shift_Ins_p.R122fs|BMF_ENST00000561282.1_Frame_Shift_Ins_p.R122fs NM_001003940.1 NP_001003940.1 Q96LC9 BMF_HUMAN Bcl2 modifying factor 122 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|mitochondrial outer membrane|myosin complex|plasma membrane protein binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 6 all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516) CACTGCCCTTCGGGGGGCTGCT 0.569 15 872 --- --- --- --- C15orf52 388115 broad.mit.edu 37 15 40630771 40630772 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:40630771_40630772insG ENST00000559313.1 - 5 624_625 c.609_610insC c.(607-612)cccgcafs p.A204fs NM_207380.2 NP_997263.2 Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 204 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) GCCACCTGCGTGGGGGGGCTTC 0.584 OREG0023060 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 227 --- --- --- --- GANC 2595 broad.mit.edu 37 15 42614143 42614144 + Frame_Shift_Ins INS - - GA TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:42614143_42614144insGA ENST00000318010.8 + 11 1458_1459 c.1218_1219insGA c.(1216-1221)agacttfs p.L407fs NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 407 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) AGGGCAAGAGGTACTTCACCTG 0.465 20 147 --- --- --- --- DUOX2 50506 broad.mit.edu 37 15 45390258 45390259 + Splice_Site INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:45390258_45390259insG ENST00000389039.6 - 27 3901 c.e27-2 DUOX2_ENST00000603300.1_Splice_Site Q9NRD8 DUOX2_HUMAN dual oxidase 2 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) AGCTTGGACCTGGGGGGCAAAG 0.584 7 278 --- --- --- --- SLC12A1 6557 broad.mit.edu 37 15 48539131 48539132 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:48539131_48539132insC ENST00000396577.3 + 12 1693_1694 c.1478_1479insC c.(1477-1479)gccfs p.A493fs SLC12A1_ENST00000380993.3_Frame_Shift_Ins_p.A493fs|SLC12A1_ENST00000558405.1_Frame_Shift_Ins_p.A493fs NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 493 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TCAGGGTTCGGCCCCCTCATCA 0.495 9 3167 --- --- --- --- VPS13C 54832 broad.mit.edu 37 15 62254983 62254984 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:62254983_62254984insA ENST00000261517.5 - 33 3472_3473 c.3399_3400insT c.(3397-3402)attcacfs p.H1134fs VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.H1134fs|VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.H1091fs|VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.H1091fs NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1134 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ACATCTGTGACAATAATATTTT 0.322 8 38 --- --- --- --- TLN2 83660 broad.mit.edu 37 15 63131164 63131165 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:63131164_63131165insG ENST00000561311.1 + 57 7714_7715 c.7484_7485insG c.(7483-7485)gggfs p.G2495fs RP11-1069G10.1_ENST00000558404.1_RNA|TLN2_ENST00000306829.6_Frame_Shift_Ins_p.G2495fs Q9Y4G6 TLN2_HUMAN talin 2 2495 I/LWEQ. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 ACCAAGTTTGTGGGGGGCATTG 0.426 7 141 --- --- --- --- IGDCC4 57722 broad.mit.edu 37 15 65681239 65681240 + Frame_Shift_Ins INS - - G rs142796011 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:65681239_65681240insG ENST00000352385.2 - 15 2822_2823 c.2613_2614insC c.(2611-2616)cccagafs p.R872fs NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 872 Fibronectin type-III 5. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 TTGGGCTCTGTGGGGGGGCACC 0.663 10 75 --- --- --- --- ITGA11 22801 broad.mit.edu 37 15 68596149 68596150 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:68596149_68596150insC ENST00000423218.2 - 29 3553_3554 c.3458_3459insG c.(3457-3459)gctfs p.A1153fs ITGA11_ENST00000315757.7_Frame_Shift_Ins_p.A1152fs Q9UKX5 ITA11_HUMAN integrin, alpha 11 1152 Poly-Leu. cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) GCAGTAGGAGGCCCCCCAGGGT 0.658 10 505 --- --- --- --- GOLGA6C 653641 broad.mit.edu 37 15 75562488 75562489 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:75562488_75562489insC ENST00000300576.5 + 18 2030_2031 c.2030_2031insC c.(2029-2031)accfs p.T677fs NM_001164404.1 NP_001157876.1 A6NDK9 GOG6C_HUMAN golgin A6 family, member C 677 ovary(1) 1 CCCCATGACAACCCCCCGGTAC 0.604 8 707 --- --- --- --- LOC645752 645752 broad.mit.edu 37 15 78214328 78214329 + RNA INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:78214328_78214329insC ENST00000565869.1 + 0 320_321 RP11-114H24.2_ENST00000567226.1_RNA GCATCTGAGTGCCCCCCAAACC 0.530 11 478 --- --- --- --- IGF1R 3480 broad.mit.edu 37 15 99251108 99251109 + Frame_Shift_Ins INS - - G rs121912426 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:99251108_99251109insG ENST00000268035.6 + 2 1023_1024 c.412_413insG c.(412-414)gggfs p.G138fs IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 138 R -> Q (in IGF1RES; has decreased IGF1R function). anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GAACATTACTCGGGGGGCCATC 0.510 11 189 --- --- --- --- CHSY1 22856 broad.mit.edu 37 15 101775436 101775437 + Frame_Shift_Ins INS - - C rs74545602 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:101775436_101775437insC ENST00000254190.3 - 2 1141_1142 c.666_667insG c.(664-669)ggctggfs p.W223fs NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 223 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) ATCACGCCAGGCCCCCCCATGC 0.614 11 144 --- --- --- --- OR4F6 390648 broad.mit.edu 37 15 102346204 102346205 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:102346204_102346205insG ENST00000328882.4 + 1 303_304 c.282_283insG c.(280-285)ttggggfs p.LG94fs NM_001005326.1 NP_001005326.1 Q8NGB9 OR4F6_HUMAN olfactory receptor, family 4, subfamily F, member 6 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) CCATCTCTTTTGGGGGCTGTGT 0.455 8 1219 --- --- --- --- IL9RP3 729486 broad.mit.edu 37 16 81765 81766 + RNA INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:81765_81766insC ENST00000568710.1 - 0 434 GGCAACCCCTGCCCCCCATGTC 0.564 9 572 --- --- --- --- SRRM2 23524 broad.mit.edu 37 16 2815060 2815061 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:2815060_2815061insC ENST00000301740.8 + 11 5080_5081 c.4531_4532insC c.(4531-4533)cccfs p.P1511fs NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1511 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CAAGTGTCTTACCCCCCAGAGA 0.525 9 384 --- --- --- --- ZNF200 7752 broad.mit.edu 37 16 3273975 3273976 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:3273975_3273976insT ENST00000431561.3 - 5 1716_1717 c.1104_1105insA c.(1102-1107)aagtggfs p.W369fs ZNF200_ENST00000396868.3_Frame_Shift_Ins_p.W368fs|ZNF200_ENST00000414144.2_Frame_Shift_Ins_p.W369fs|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396871.4_Frame_Shift_Ins_p.W368fs|ZNF200_ENST00000396870.4_Frame_Shift_Ins_p.W368fs|ZNF200_ENST00000575948.1_Frame_Shift_Ins_p.W368fs NM_001145447.1|NM_003454.3 NP_001138919.1|NP_003445.2 P98182 ZN200_HUMAN zinc finger protein 200 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 17 CTTCTCCCACATTTTTTGCAAC 0.455 8 539 --- --- --- --- SLX4 84464 broad.mit.edu 37 16 3634840 3634841 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:3634840_3634841insG ENST00000294008.3 - 13 5308_5309 c.4668_4669insC c.(4666-4671)ccaagtfs p.S1557fs NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1557 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 ATGGGCACTTTGGGGGGCAAGT 0.500 Direct reversal of damage 34 733 --- --- --- --- ADCY9 115 broad.mit.edu 37 16 4016046 4016047 + Frame_Shift_Del DEL GA GA - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:4016046_4016047delGA ENST00000294016.3 - 11 4329_4330 c.3791_3792delTC c.(3790-3792)gfs p.V1264fs NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 1264 QHQLSISPDIRVQVDGSIGRSPTDEIANLVPSVQYVDKTSL GSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCD ETGIEEANELTKLNVSKSV -> APAVHLPRHPRPGGWQHR TVSHRRDCQPGAFCPVCGQDISGF (in Ref. 1; AAC24201). 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 plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CATCCACCTGGACGCGGATGTC 0.569 8 99 --- --- --- --- EMP2 2013 broad.mit.edu 37 16 10637490 10637491 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:10637490_10637491insA ENST00000359543.3 - 3 314_315 c.105_106insT c.(103-108)ttcagafs p.R36fs EMP2_ENST00000536829.1_Frame_Shift_Ins_p.R36fs NM_001424.4 NP_001415.1 P54851 EMP2_HUMAN epithelial membrane protein 2 36 cell proliferation integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 CAGACATCTGCAAAAAACTCAT 0.441 12 1192 --- --- --- --- SNX29 92017 broad.mit.edu 37 16 12162916 12162917 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:12162916_12162917insC ENST00000566228.1 + 10 1315_1316 c.1246_1247insC c.(1246-1248)cccfs p.P416fs SNX29_ENST00000323433.4_Frame_Shift_Ins_p.P31fs|SNX29_ENST00000306030.3_Frame_Shift_Ins_p.P31fs NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 31 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 CTGCACAGATGCCCCCCTCGGA 0.495 15 1649 --- --- --- --- MKL2 57496 broad.mit.edu 37 16 14346299 14346300 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:14346299_14346300insC ENST00000571589.1 + 15 2815_2816 c.2643_2644insC c.(2641-2646)gaccccfs p.DP881fs MKL2_ENST00000574045.1_Frame_Shift_Ins_p.DP831fs|MKL2_ENST00000341243.5_Frame_Shift_Ins_p.DP870fs|MKL2_ENST00000318282.5_Frame_Shift_Ins_p.DP831fs NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 870 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGACAAAAGATCCCCCCCGCTA 0.564 7 80 --- --- --- --- NOMO1 23420 broad.mit.edu 37 16 14980694 14980695 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:14980694_14980695insC ENST00000287667.7 + 28 3470_3471 c.3299_3300insC c.(3298-3300)tccfs p.S1100fs NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1100 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 TTCTTCCATTTCCCCCCACTGC 0.475 14 997 --- --- --- --- ACSM2B 348158 broad.mit.edu 37 16 20556547 20556548 + Frame_Shift_Ins INS - - G rs146499503 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:20556547_20556548insG ENST00000329697.6 - 10 1380_1381 c.1212_1213insC c.(1210-1215)ccgcacfs p.H405fs ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000567001.1_Frame_Shift_Ins_p.H405fs|ACSM2B_ENST00000565322.1_Frame_Shift_Ins_p.H326fs NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 405 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|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 CCTTCTGTGCCGGGGGGCAGGA 0.515 7 390 --- --- --- --- RABEP2 79874 broad.mit.edu 37 16 28919982 28919983 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:28919982_28919983insG ENST00000358201.4 - 8 1780_1781 c.1192_1193insC c.(1192-1194)gggfs p.G398fs RABEP2_ENST00000357573.6_Frame_Shift_Ins_p.G366fs|RABEP2_ENST00000544477.1_Frame_Shift_Ins_p.G327fs NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 398 endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CTGCGAGCCCTGGGGGGCTGAG 0.644 8 114 --- --- --- --- TBX6 6911 broad.mit.edu 37 16 30100077 30100078 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:30100077_30100078insC ENST00000553607.1 - 4 1397_1398 c.704_705insG c.(703-705)gatfs p.D235fs TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs O95947 TBX6_HUMAN T-box 6 235 anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 9 AGGAGGCCATGCCCCCCCAGTG 0.629 8 93 --- --- --- --- ITGAL 3683 broad.mit.edu 37 16 30531243 30531244 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:30531243_30531244insG ENST00000356798.6 + 30 3474_3475 c.3294_3295insG c.(3292-3297)atggggfs p.MG1098fs ITGAL_ENST00000433423.2_Frame_Shift_Ins_p.MG332fs|ITGAL_ENST00000358164.5_Frame_Shift_Ins_p.MG1014fs NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 1098 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell 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) TGAGCGGCATCGGGGGGCTGCT 0.599 7 367 --- --- --- --- CES1 1066 broad.mit.edu 37 16 55857568 55857569 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:55857568_55857569insC ENST00000422046.2 - 4 710_711 c.429_430insG c.(427-432)ggtgatfs p.D144fs CES1_ENST00000361503.4_Frame_Shift_Ins_p.D144fs|CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Frame_Shift_Ins_p.D145fs P23141 EST1_HUMAN carboxylesterase 1 144 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) CCCACCATCAGCCCCCCTCCGT 0.559 10 779 --- --- --- --- C16orf70 80262 broad.mit.edu 37 16 67180988 67180989 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:67180988_67180989insC ENST00000219139.3 + 16 1411_1412 c.1223_1224insC c.(1222-1224)gccfs p.A408fs C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 408 p.R411fs*4(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) ACCCTGTATGGCCCCCCCAGGC 0.594 25 283 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67290903 67290904 + Frame_Shift_Ins INS - - G rs35182421 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:67290903_67290904insG ENST00000299798.11 + 7 1287_1288 c.1222_1223insG c.(1222-1224)gggfs p.G408fs NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 408 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity p.R408W(1) breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) TGGGGGCCTGCGGGGGGCTGTG 0.559 11 230 --- --- --- --- CDH1 999 broad.mit.edu 37 16 68835780 68835781 + Frame_Shift_Ins INS - - C rs115418995 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:68835780_68835781insC ENST00000261769.5 + 3 562_563 c.371_372insC c.(370-372)cccfs p.P124fs CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Ins_p.P124fs NM_004360.3 NP_004351.1 P12830 CADH1_HUMAN cadherin 1, type 1, E-cadherin (epithelial) 124 adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(2)|p.P126fs*89(1)|p.P127fs*41(1) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CACCACCACCGCCCCCCGCCCC 0.500 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 9 398 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991757 72991758 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:72991757_72991758insC ENST00000268489.5 - 2 2959_2960 c.2287_2288insG c.(2287-2289)gcafs p.A763fs ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 763 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GAAGACCTGCTCCCCCCCTCCA 0.624 16 384 --- --- --- --- NUDT7 283927 broad.mit.edu 37 16 77775743 77775744 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:77775743_77775744insA ENST00000268533.5 + 4 682_683 c.613_614insA c.(613-615)aaafs p.K205fs NUDT7_ENST00000437314.3_Frame_Shift_Ins_p.K152fs|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR NM_001105663.2 NP_001099133.1 P0C024 NUDT7_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 7 205 nucleoside diphosphate metabolic process peroxisome hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1) 18 TATCATTTTGGAAAAAAAACCC 0.381 7 417 --- --- --- --- PAFAH1B1 5048 broad.mit.edu 37 17 2583499 2583500 + Frame_Shift_Ins INS - - G rs113994201 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:2583499_2583500insG ENST00000397195.5 + 10 1495_1496 c.1044_1045insG c.(1042-1047)tcggggfs p.SG348fs PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR NM_000430.3 NP_000421.1 P43034 LIS1_HUMAN platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 348 Interaction with dynein and dynactin. acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1) 11 TGTTCCATTCTGGGGGGAAGTT 0.401 15 642 --- --- --- --- CXCL16 58191 broad.mit.edu 37 17 4638739 4638740 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:4638739_4638740insG ENST00000293778.6 - 4 844_845 c.422_423insC c.(421-423)catfs p.H141fs CXCL16_ENST00000576153.1_5'UTR|CXCL16_ENST00000574412.1_Frame_Shift_Ins_p.H141fs NM_022059.2 NP_071342.2 Q9H2A7 CXL16_HUMAN chemokine (C-X-C motif) ligand 16 122 lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor extracellular space|integral to membrane|plasma membrane chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 CCTGAGAAATTGGGGGGCTGGT 0.550 8 590 --- --- --- --- ALOX12 239 broad.mit.edu 37 17 6903739 6903740 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:6903739_6903740insC ENST00000251535.6 + 7 945_946 c.892_893insC c.(892-894)cccfs p.P298fs AC027763.2_ENST00000574377.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 298 Lipoxygenase. A -> T. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 ATACCTGGCTGCCCCCCTCGTT 0.554 7 582 --- --- --- --- EFNB3 1949 broad.mit.edu 37 17 7612855 7612856 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:7612855_7612856insC ENST00000226091.2 + 5 1381_1382 c.984_985insC c.(982-987)ggccccfs p.GP328fs NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 328 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) TGCAGGATGGGCCCCCCCAGAG 0.574 8 146 --- --- --- --- ARHGEF15 22899 broad.mit.edu 37 17 8222137 8222138 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:8222137_8222138insG ENST00000361926.3 + 12 2052_2053 c.1942_1943insG c.(1942-1944)gggfs p.G648fs ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Frame_Shift_Ins_p.G648fs NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 648 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 AGGGTGCCGGAGGGGGGGCGTG 0.634 12 140 --- --- --- --- PMP22 5376 broad.mit.edu 37 17 15142825 15142826 + Frame_Shift_Ins INS - - C rs80338763 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:15142825_15142826insC ENST00000395938.2 - 4 475_476 c.281_282insG c.(280-282)gagfs p.E94fs PMP22_ENST00000312280.3_Frame_Shift_Ins_p.E94fs|PMP22_ENST00000426385.3_Frame_Shift_Ins_p.E94fs|PMP22_ENST00000395936.1_Frame_Shift_Ins_p.E94fs|PMP22_ENST00000494511.1_Frame_Shift_Ins_p.G35fs NM_153321.1 NP_696996.1 Q01453 PMP22_HUMAN peripheral myelin protein 22 94 peripheral nervous system development|synaptic transmission integral to membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06) TGTAAAACCTGCCCCCCTTGGT 0.500 7 626 --- --- --- --- FAM83G 644815 broad.mit.edu 37 17 18881020 18881021 + Frame_Shift_Ins INS - - TC TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:18881020_18881021insTC ENST00000388995.6 - 5 2181_2182 c.1958_1959insGA c.(1957-1959)catfs p.H653fs SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Frame_Shift_Ins_p.H653fs|FAM83G_ENST00000345041.4_Frame_Shift_Ins_p.H653fs|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 653 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 CTCGGGTTATATGGGGGGCACT 0.644 7 5 --- --- --- --- KIAA0100 9703 broad.mit.edu 37 17 26962586 26962587 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:26962586_26962587insG ENST00000528896.2 - 16 2092_2093 c.2018_2019insC c.(2017-2019)cgafs p.R673fs KIAA0100_ENST00000544884.1_Frame_Shift_Ins_p.R530fs|KIAA0100_ENST00000389003.3_Frame_Shift_Ins_p.R530fs|RP11-192H23.7_ENST00000577814.1_RNA NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 673 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) ACATGTGATCTGGGGGGCTCCA 0.505 13 915 --- --- --- --- PHF12 57649 broad.mit.edu 37 17 27244345 27244346 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:27244345_27244346insG ENST00000577226.1 - 7 1437_1438 c.1091_1092insC c.(1090-1092)caafs p.Q364fs PHF12_ENST00000332830.4_Frame_Shift_Ins_p.Q364fs|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Frame_Shift_Ins_p.Q364fs Q96QT6 PHF12_HUMAN PHD finger protein 12 364 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) CACGCCGGTTAGGGGGGTGCTT 0.530 11 889 --- --- --- --- BLMH 642 broad.mit.edu 37 17 28618354 28618355 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:28618354_28618355insT ENST00000261714.6 - 2 359_360 c.185_186insA c.(184-186)accfs p.T62fs BLMH_ENST00000394819.3_Frame_Shift_Ins_p.P12fs NM_000386.3 NP_000377.1 Q13867 BLMH_HUMAN bleomycin hydrolase 62 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1) 13 TGGTGATTGGCTTGCCCTCCTG 0.579 11 1271 --- --- --- --- RAB11FIP4 84440 broad.mit.edu 37 17 29758897 29758898 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:29758897_29758898insG ENST00000325874.8 + 2 455_456 c.226_227insG c.(226-228)gggfs p.G76fs NM_032932.3 NP_116321.2 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 76 EF-hand. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding p.?(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) GGACTTTTGCCGGGGGGTGTTC 0.579 12 91 --- --- --- --- LIG3 3980 broad.mit.edu 37 17 33318739 33318740 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:33318739_33318740insC ENST00000378526.4 + 6 1224_1225 c.1091_1092insC c.(1090-1092)tccfs p.S364fs LIG3_ENST00000262327.5_Frame_Shift_Ins_p.S364fs NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 364 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) AGCAAGTCTTTCCCCCCAGCTG 0.545 Other BER factors 11 1127 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34074256 34074257 + Frame_Shift_Ins INS - - G rs139867246 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:34074256_34074257insG ENST00000254466.6 - 5 890_891 c.863_864insC c.(862-864)cgcfs p.R288fs GAS2L2_ENST00000587565.1_Frame_Shift_Ins_p.R272fs NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 288 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGGTGGGGCCGGGGGCTTCAG 0.599 8 219 --- --- --- --- IKZF3 22806 broad.mit.edu 37 17 37922280 37922281 + Frame_Shift_Ins INS - - A rs114183106 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:37922280_37922281insA ENST00000346872.3 - 8 1353_1354 c.1292_1293insT c.(1291-1293)cccfs p.P431fs IKZF3_ENST00000467757.1_Frame_Shift_Ins_p.P375fs|IKZF3_ENST00000439167.2_Frame_Shift_Ins_p.P358fs|IKZF3_ENST00000439016.2_Frame_Shift_Ins_p.P336fs|IKZF3_ENST00000394189.2_Frame_Shift_Ins_p.P249fs|IKZF3_ENST00000377958.2_Frame_Shift_Ins_p.P344fs|IKZF3_ENST00000350532.3_Frame_Shift_Ins_p.P392fs|IKZF3_ENST00000346243.3_Frame_Shift_Ins_p.P353fs|IKZF3_ENST00000377944.3_Frame_Shift_Ins_p.P288fs|IKZF3_ENST00000377945.3_Frame_Shift_Ins_p.P297fs|IKZF3_ENST00000377952.2_Frame_Shift_Ins_p.P210fs|IKZF3_ENST00000583368.1_Frame_Shift_Ins_p.P184fs|IKZF3_ENST00000535189.1_Frame_Shift_Ins_p.P397fs|IKZF3_ENST00000351680.3_Frame_Shift_Ins_p.P392fs NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 431 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GGCAGATGGGCGGGGGCTTGAG 0.550 8 351 --- --- --- --- KRT26 353288 broad.mit.edu 37 17 38926341 38926342 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:38926341_38926342insC ENST00000335552.4 - 4 762_763 c.714_715insG c.(712-717)ggacgtfs p.R239fs NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 239 Linker 12.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) ACGTTCACGTTCCCCCCAGCTG 0.480 7 128 --- --- --- --- GPATCH8 23131 broad.mit.edu 37 17 42478248 42478249 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:42478248_42478249insG ENST00000434000.1 - 9 1244_1245 c.962_963insC c.(961-963)cgcfs p.R321fs GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.R399fs Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 399 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) TGCAGTGTGCTGGGGGGATGTA 0.441 OREG0024461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 469 --- --- --- --- MRPL10 124995 broad.mit.edu 37 17 45905873 45905874 + Frame_Shift_Ins INS - - G rs147331240 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:45905873_45905874insG ENST00000290208.7 - 2 697_698 c.245_246insC c.(244-246)ccafs p.P82fs MRPL10_ENST00000351111.2_Frame_Shift_Ins_p.P72fs|MRPL10_ENST00000414011.1_Frame_Shift_Ins_p.P82fs Q7Z7H8 RM10_HUMAN mitochondrial ribosomal protein L10 72 ribosome biogenesis|translation mitochondrial large ribosomal subunit structural constituent of ribosome endometrium(3)|large_intestine(1)|lung(3)|ovary(1) 8 TTACCTCCTGTGGGGGGCTGGG 0.525 7 297 --- --- --- --- CACNA1G 8913 broad.mit.edu 37 17 48683537 48683539 + In_Frame_Del DEL AAA AAA - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:48683537_48683539delAAA ENST00000416767.4 + 23 4603_4605 c.4575_4577delAAA c.(4573-4578)gcg>gc p.AK1525del CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000359106.5_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000512389.1_Intron O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 0 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AGCATGTCGCAAAGCCCAGTCCA 0.571 16 33 --- --- --- --- MTMR4 9110 broad.mit.edu 37 17 56590245 56590246 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:56590245_56590246insG ENST00000323456.5 - 3 184_185 c.60_61insC c.(58-63)ccaggafs p.G21fs MTMR4_ENST00000579925.1_Frame_Shift_Ins_p.G21fs NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 21 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity p.K21fs*20(1) breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) ACTAGTTCCTTGGGGGGGAACA 0.569 7 97 --- --- --- --- MARCH10 162333 broad.mit.edu 37 17 60814265 60814266 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:60814265_60814266insC ENST00000544856.2 - 7 1338_1339 c.960_961insG c.(958-963)ggcatcfs p.I321fs MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 322 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 GGGGTCGATGTCCCCCCAAATC 0.460 11 904 --- --- --- --- PSMC5 5705 broad.mit.edu 37 17 61908770 61908771 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:61908770_61908771insC ENST00000310144.6 + 9 1262_1263 c.954_955insC c.(952-957)ccccccfs p.PP318fs PSMC5_ENST00000580864.1_Frame_Shift_Ins_p.PP310fs|PSMC5_ENST00000375812.4_Frame_Shift_Ins_p.PP310fs|PSMC5_ENST00000581882.1_Frame_Shift_Ins_p.PP310fs NM_002805.5 NP_002796.4 P62195 PRS8_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 5 318 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 20 TTGAATTCCCACCCCCCAATGA 0.545 20 640 --- --- --- --- CSHL1 1444 broad.mit.edu 37 17 61987865 61987866 + Frame_Shift_Ins INS - - CCCA TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:61987865_61987866insCCCA ENST00000392824.4 - 2 490_491 c.429_430insTGGG c.(427-432)atattcfs p.F144fs CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000309894.5_Frame_Shift_Ins_p.I74fs|CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000450719.3_5'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 ATGCAGGAATGAATACTTCTGT 0.505 145 157 --- --- --- --- AXIN2 8313 broad.mit.edu 37 17 63532584 63532585 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:63532584_63532585insC ENST00000307078.5 - 8 2307_2308 c.1994_1995insG c.(1993-1995)gaafs p.E665fs AXIN2_ENST00000375702.5_Frame_Shift_Ins_p.E600fs NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 665 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 GCCCGCTGTTGCCCCCCCACAG 0.658 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 8 109 --- --- --- --- ABCA6 23460 broad.mit.edu 37 17 67083603 67083604 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:67083603_67083604insG ENST00000284425.2 - 29 3883_3884 c.3709_3710insC c.(3709-3711)aagfs p.K1237fs ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1237 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATCTCTACTTTGGGGGGAAATT 0.376 8 378 --- --- --- --- FAM104A 84923 broad.mit.edu 37 17 71223356 71223357 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:71223356_71223357insG ENST00000405159.3 - 2 332_333 c.268_269insC c.(268-270)gacfs p.D90fs FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583178.1_5'UTR NM_001098832.1 NP_001092302.1 Q969W3 F104A_HUMAN family with sequence similarity 104, member A 90 endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 LUSC - Lung squamous cell carcinoma(166;0.197) TCTTTTGGTCTGGGGGGGAAGA 0.416 21 532 --- --- --- --- MRPL38 64978 broad.mit.edu 37 17 73895694 73895695 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:73895694_73895695insG ENST00000309352.3 - 7 1308_1309 c.771_772insC c.(769-774)cctcccfs p.P258fs MRPL38_ENST00000409963.3_Frame_Shift_Ins_p.P74fs|RP11-552F3.10_ENST00000587267.1_RNA NM_032478.3 NP_115867.2 Q96DV4 RM38_HUMAN mitochondrial ribosomal protein L38 258 actin cytoskeleton|mitochondrion|ribosome ovary(1)|pancreas(1)|prostate(2)|skin(1) 5 all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154) CGGGCAGGGAAGGGGGGGAGGT 0.614 3 5 --- --- --- --- UBE2O 63893 broad.mit.edu 37 17 74394437 74394440 + Frame_Shift_Del DEL CACT CACT - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:74394437_74394440delCACT ENST00000319380.7 - 12 1985_1988 c.1921_1924delAGTG c.(1921-1926)ttfs p.SV641fs UBE2O_ENST00000587581.1_5'UTR NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 641 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 ATGTCGTAAACACTCACATCTTCC 0.534 OREG0024751 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 290 --- --- --- --- MGAT5B 146664 broad.mit.edu 37 17 74936520 74936521 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:74936520_74936521insC ENST00000569840.2 + 14 2195_2196 c.1621_1622insC c.(1621-1623)cccfs p.P541fs MGAT5B_ENST00000301618.4_Frame_Shift_Ins_p.P539fs|MGAT5B_ENST00000428789.2_Frame_Shift_Ins_p.P550fs NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 541 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CGAGGGCCCCGCCCCCCTGGAG 0.658 10 949 --- --- --- --- TNRC6C 57690 broad.mit.edu 37 17 76079156 76079157 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:76079156_76079157insA ENST00000335749.4 + 11 3946_3947 c.3377_3378insA c.(3376-3378)gaafs p.E1126fs TNRC6C_ENST00000588847.1_Frame_Shift_Ins_p.E1126fs|TNRC6C_ENST00000544502.1_Frame_Shift_Ins_p.E1126fs|TNRC6C_ENST00000301624.4_Frame_Shift_Ins_p.E1129fs|TNRC6C_ENST00000541771.1_Frame_Shift_Ins_p.E1129fs|TNRC6C_ENST00000588061.1_Frame_Shift_Ins_p.E1129fs NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 1129 gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CAGTTTGCAGCAAAAAACATTG 0.386 10 2478 --- --- --- --- CYTH1 9267 broad.mit.edu 37 17 76677055 76677056 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr17:76677055_76677056insT ENST00000589297.1 - 12 1475_1476 c.783_784insA c.(781-786)aacaaafs p.NK261fs CYTH1_ENST00000446868.3_Frame_Shift_Ins_p.NK320fs|CYTH1_ENST00000361101.4_Frame_Shift_Ins_p.NK320fs|CYTH1_ENST00000585509.1_Frame_Shift_Ins_p.NK261fs|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000586175.1_5'UTR|CYTH1_ENST00000591455.1_Frame_Shift_Ins_p.NK319fs Q15438 CYH1_HUMAN cytohesin 1 320 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 ATACTCACTGGTTTTTTGGAGT 0.396 8 672 --- --- --- --- CEP192 55125 broad.mit.edu 37 18 13113612 13113613 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:13113612_13113613insG ENST00000506447.1 + 41 7155_7156 c.7075_7076insG c.(7075-7077)gggfs p.G2359fs CEP192_ENST00000325971.8_Frame_Shift_Ins_p.G1763fs|CEP192_ENST00000430049.2_Frame_Shift_Ins_p.G1884fs|CEP192_ENST00000540847.2_3'UTR NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1954 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GCCCAGAGGTAGGGGGGATTAT 0.426 12 1138 --- --- --- --- GAREM 64762 broad.mit.edu 37 18 29867327 29867328 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:29867327_29867328insC ENST00000399218.4 - 4 1287_1288 c.1232_1233insG c.(1231-1233)ggafs p.G411fs GAREM_ENST00000269209.6_Frame_Shift_Ins_p.G411fs NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 GAGCCCAATCTCCCCCCAGGTC 0.545 18 791 --- --- --- --- ZNF397 84307 broad.mit.edu 37 18 32823300 32823301 + Frame_Shift_Ins INS - - AG TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:32823300_32823301insAG ENST00000585800.1 + 3 1313_1314 c.599_600insAG c.(598-600)cctfs p.P200fs ZNF397_ENST00000591206.1_Frame_Shift_Ins_p.P200fs|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000330501.7_Intron|ZNF397_ENST00000261333.6_Intron Q8NF99 ZN397_HUMAN zinc finger protein 397 0 viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 12 ACACTTAGGCCTCTGTTTTTGA 0.436 14 100 --- --- --- --- EPG5 57724 broad.mit.edu 37 18 43460063 43460064 + Frame_Shift_Del DEL CA CA - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:43460063_43460064delCA ENST00000282041.5 - 32 5677_5678 c.5643_5644delTG c.(5641-5646)tcatfs p.SD1881fs EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1881 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 AAGAGAGCATCAGAAGAGCTGG 0.554 OREG0024951 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 77 --- --- --- --- NEDD4L 23327 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:55992284_55992286delTCC ENST00000456986.1 + 9 807_809 c.207_209delTCC c.(205-210)ctt>ct p.LP69del NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 190 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AAGAGGAACTTCCTCCTCCTCCT 0.498 9 1073 --- --- --- --- GIPC3 126326 broad.mit.edu 37 19 3589526 3589527 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:3589526_3589527insG ENST00000322315.5 + 4 723_724 c.678_679insG c.(676-681)tcggggfs p.SG226fs NM_133261.2 NP_573568.1 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 226 breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) GGCTTCGTTCTGGGGGGGCTGC 0.609 9 237 --- --- --- --- SAFB2 9667 broad.mit.edu 37 19 5590342 5590343 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:5590342_5590343insC ENST00000252542.4 - 18 2735_2736 c.2471_2472insG c.(2470-2472)gtafs p.V824fs NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 824 Gly-rich.|Interacts with SAFB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) CGGAGCCGTAGCCCCCCCAGCC 0.688 7 154 --- --- --- --- RFX2 5990 broad.mit.edu 37 19 6026217 6026218 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:6026217_6026218insT ENST00000303657.5 - 6 702_703 c.553_554insA c.(553-555)cgafs p.R185fs RFX2_ENST00000359161.3_Frame_Shift_Ins_p.R185fs|RFX2_ENST00000592546.1_Intron NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GATTCCTTCGCTTTTTTGGAGG 0.401 7 411 --- --- --- --- TUBB4A 10382 broad.mit.edu 37 19 6496087 6496088 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:6496087_6496088insC ENST00000264071.2 - 4 793_794 c.422_423insG c.(421-423)gggfs p.G141fs TUBB4A_ENST00000601152.1_3'UTR|TUBB4A_ENST00000540257.1_Frame_Shift_Ins_p.G141fs|TUBB4A_ENST00000598006.1_3'UTR P04350 TBB4_HUMAN tubulin, beta 4A class IVa 141 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ACCCCGTGCCACCCCCCAGCGA 0.649 8 239 --- --- --- --- INSR 3643 broad.mit.edu 37 19 7168022 7168023 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:7168022_7168023insG ENST00000341500.5 - 7 1605_1606 c.1566_1567insC c.(1564-1569)ccacttfs p.L523fs INSR_ENST00000302850.5_Frame_Shift_Ins_p.L523fs NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 523 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTCGGAAGTCGGGGGGCCAGT 0.475 14 794 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9064309 9064310 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:9064309_9064310insG ENST00000397910.4 - 3 23339_23340 c.23136_23137insC c.(23134-23139)ccctccfs p.S7713fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7715 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 GGAAGGGGAGAGGGGGGGATAT 0.530 20 433 --- --- --- --- C3P1 388503 broad.mit.edu 37 19 10160752 10160753 + RNA INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:10160752_10160753insC ENST00000495140.1 + 0 1411 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 TAGTGGTCGTGCCCCCCACCTC 0.599 9 377 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10291083 10291084 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:10291083_10291084insG ENST00000340748.4 - 4 622_623 c.387_388insC c.(385-390)ccaaccfs p.T130fs DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 130 Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GAAAGGGGTTTGGGGGGGCTGT 0.495 18 345 --- --- --- --- TYK2 7297 broad.mit.edu 37 19 10472525 10472526 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:10472525_10472526insG ENST00000525621.1 - 13 2360_2361 c.1879_1880insC c.(1879-1881)cgtfs p.R627fs TYK2_ENST00000524462.1_Frame_Shift_Ins_p.R442fs|TYK2_ENST00000264818.6_Frame_Shift_Ins_p.R627fs|TYK2_ENST00000529370.1_Frame_Shift_Ins_p.R627fs NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 627 Protein kinase 1. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GCCAGGCACGAGGGGGTCCTCG 0.663 11 556 --- --- --- --- EPOR 2057 broad.mit.edu 37 19 11488680 11488681 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:11488680_11488681insG ENST00000222139.6 - 8 1610_1611 c.1506_1507insC c.(1504-1509)ccgctafs p.L503fs EPOR_ENST00000592375.2_3'UTR NM_000121.3 NP_000112.1 P19235 EPOR_HUMAN erythropoietin receptor 503 extracellular region|integral to plasma membrane erythropoietin receptor activity|identical protein binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) GCCACATAGCTGGGGGGCAGAG 0.569 OREG0025254 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 543 --- --- --- --- ZNF878 729747 broad.mit.edu 37 19 12155624 12155625 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:12155624_12155625insT ENST00000602107.1 - 5 731_732 c.732_733insA c.(730-735)aacctafs p.NL244fs CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL197fs C9JN71 ZN878_HUMAN zinc finger protein 878 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 CATTCATAGGGTTTTTTTGCAG 0.396 17 482 --- --- --- --- ZNF625 90589 broad.mit.edu 37 19 12256750 12256751 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:12256750_12256751insC ENST00000355738.1 - 4 631_632 c.282_283insG c.(280-285)ggaaccfs p.T95fs ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Frame_Shift_Ins_p.T161fs|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000542938.1_Frame_Shift_Ins_p.T95fs Q96I27 ZN625_HUMAN zinc finger protein 625 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2) 14 TCATAAGGTTTCCCCCCAGTGT 0.421 8 659 --- --- --- --- AP1M1 8907 broad.mit.edu 37 19 16314383 16314384 + Frame_Shift_Ins INS - - G rs146546344 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:16314383_16314384insG ENST00000291439.3 + 2 605_606 c.156_157insG c.(154-159)caggggfs p.QG52fs AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000590756.1_Intron NM_032493.3 NP_115882.1 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 52 cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 TCCTGGCCCACGGGGGGGTCCG 0.594 8 327 --- --- --- --- NWD1 284434 broad.mit.edu 37 19 16860826 16860827 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:16860826_16860827insC ENST00000524140.2 + 6 1791_1792 c.1373_1374insC c.(1372-1374)tccfs p.S458fs NWD1_ENST00000549814.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.S252fs|NWD1_ENST00000552788.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.S323fs NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 458 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 CCTCTCAACTGCCCCCCGAGGG 0.629 21 848 --- --- --- --- NWD1 284434 broad.mit.edu 37 19 16925910 16925911 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:16925910_16925911insC ENST00000552788.1 + 18 4465_4466 c.4465_4466insC c.(4465-4467)cccfs p.P1489fs NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.P1447fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.P1283fs|NWD1_ENST00000379808.3_3'UTR|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.P1354fs Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1489 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 TGGCTTCATTGCCCCCACCAGG 0.505 7 2430 --- --- --- --- OCEL1 79629 broad.mit.edu 37 19 17337839 17337840 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:17337839_17337840insC ENST00000215061.4 + 3 327_328 c.283_284insC c.(283-285)cccfs p.P95fs OCEL1_ENST00000597836.1_Frame_Shift_Ins_p.P39fs|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000601529.1_Frame_Shift_Ins_p.P95fs NM_024578.1 NP_078854.1 Q9H607 OCEL1_HUMAN occludin/ELL domain containing 1 95 Pro-rich. central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2) 7 CAAAACCAGCGCCCCCCGCCCT 0.639 14 935 --- --- --- --- RP11-678G14.2 0 broad.mit.edu 37 19 21749277 21749278 + RNA DEL TC TC - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:21749277_21749278delTC ENST00000594564.1 - 0 134 AGAAATTATTTCTGTTTTCCCC 0.401 5 7 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31768677 31768678 + Frame_Shift_Ins INS - - G rs151270303 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:31768677_31768678insG ENST00000240587.4 - 2 2348_2349 c.2021_2022insC c.(2020-2022)ccgfs p.P674fs NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 674 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) ACCCATCCCGCGGGGGGCTGGG 0.658 8 209 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31769061 31769062 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:31769061_31769062insC ENST00000240587.4 - 2 1964_1965 c.1637_1638insG c.(1636-1638)gtafs p.V546fs NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 546 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) TGCTGGGATAGCCCCCCCAGCT 0.559 37 715 --- --- --- --- SLC7A10 56301 broad.mit.edu 37 19 33703793 33703794 + Frame_Shift_Ins INS - - G rs143654746 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:33703793_33703794insG ENST00000253188.3 - 3 617_618 c.471_472insC c.(469-474)ccccacfs p.H158fs NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 158 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) GAGGCTGTGGTGGGGGGGATGC 0.639 8 114 --- --- --- --- GPI 2821 broad.mit.edu 37 19 34887281 34887282 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:34887281_34887282insG ENST00000415930.3 + 13 1341_1342 c.1171_1172insG c.(1171-1173)gggfs p.G391fs GPI_ENST00000356487.5_Frame_Shift_Ins_p.G380fs|GPI_ENST00000586425.1_Frame_Shift_Ins_p.G380fs NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 380 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) CCCCATTGTGTGGGGGGAGCCA 0.564 11 522 --- --- --- --- ARHGAP33 115703 broad.mit.edu 37 19 36268609 36268610 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:36268609_36268610insG ENST00000007510.4 + 2 213_214 c.69_70insG c.(67-72)gcggggfs p.AG23fs ARHGAP33_ENST00000314737.5_Frame_Shift_Ins_p.AG23fs|ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000378944.5_Intron O14559 RHG33_HUMAN Rho GTPase activating protein 33 23 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 TACCCACTGCTGGGGGGCCCAG 0.639 8 429 --- --- --- --- ZNF780B 163131 broad.mit.edu 37 19 40540780 40540781 + Frame_Shift_Ins INS - - AT TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:40540780_40540781insAT ENST00000434248.1 - 5 2050_2051 c.1985_1986insAT c.(1984-1986)acafs p.T662fs ZNF780B_ENST00000221355.6_Frame_Shift_Ins_p.T514fs NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 662 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CACCAGCATGAATACTCTGATG 0.386 10 512 --- --- --- --- C19orf47 126526 broad.mit.edu 37 19 40834398 40834399 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:40834398_40834399insG ENST00000582783.1 - 6 483_484 c.471_472insC c.(469-474)ccggcgfs p.A158fs C19orf47_ENST00000392035.2_Frame_Shift_Ins_p.A91fs NM_001256440.1 NP_001243369.1 Q8N9M1 CS047_HUMAN chromosome 19 open reading frame 47 158 endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) TCCGGGCGCCTGGGGGGTGTGC 0.614 12 473 --- --- --- --- SHKBP1 92799 broad.mit.edu 37 19 41086321 41086322 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:41086321_41086322insC ENST00000291842.5 + 7 541_542 c.492_493insC c.(490-495)atccccfs p.IP164fs SHKBP1_ENST00000600733.1_Frame_Shift_Ins_p.IP164fs NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 164 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCAACACGATGCCCCCCAACCT 0.619 7 258 --- --- --- --- CEACAM5 1048 broad.mit.edu 37 19 42224865 42224866 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:42224865_42224866insC ENST00000221992.6 + 8 1909_1910 c.1795_1796insC c.(1795-1797)cccfs p.P599fs CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 599 Ig-like 7. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCCCATCATTTCCCCCCCAGAC 0.545 17 267 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43439519 43439520 + RNA INS - - C rs59911953 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:43439519_43439520insC ENST00000446844.3 - 0 520 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) AATGACCCCTGCCCCCCAACAC 0.515 8 724 --- --- --- --- CD177 57126 broad.mit.edu 37 19 43866410 43866411 + RNA INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:43866410_43866411insG ENST00000378009.4 + 0 1413_1414 CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) GTCTCTCACTTGGGGGGTGGGG 0.619 7 108 --- --- --- --- CARD8 22900 broad.mit.edu 37 19 48737669 48737670 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:48737669_48737670insC ENST00000391898.3 - 3 382_383 c.340_341insG c.(340-342)catfs p.H114fs CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs NM_001184900.1 NP_001171829.1 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 0 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) CCTGGGAATGTCCCCCCCAGAT 0.436 28 614 --- --- --- --- FAM83E 54854 broad.mit.edu 37 19 49107037 49107038 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:49107037_49107038insG ENST00000263266.3 - 4 1078_1079 c.889_890insC c.(889-891)gaafs p.E297fs NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 297 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CGAGGGTTTCTGGGGGGGCGCA 0.723 8 39 --- --- --- --- PLEKHA4 57664 broad.mit.edu 37 19 49364680 49364681 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:49364680_49364681insG ENST00000263265.6 - 5 898_899 c.343_344insC c.(343-345)aggfs p.R115fs PLEKHA4_ENST00000355496.5_Frame_Shift_Ins_p.R115fs NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 115 PH. cytoplasm|membrane 1-phosphatidylinositol binding p.R115R(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GCGCCGCCCTCGGGGGGCTCCC 0.604 8 454 --- --- --- --- PPP1R15A 23645 broad.mit.edu 37 19 49377235 49377236 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:49377235_49377236insC ENST00000200453.5 + 2 1014_1015 c.745_746insC c.(745-747)cccfs p.P249fs NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 249 Glu-rich. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) GACCTCCGTGTCCCCCCGATCT 0.554 10 92 --- --- --- --- PPP1R15A 23645 broad.mit.edu 37 19 49377485 49377486 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:49377485_49377486insC ENST00000200453.5 + 2 1264_1265 c.995_996insC c.(994-996)accfs p.T332fs NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 332 Glu-rich. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) CCTCCCTGCATCCCCCCACCAA 0.564 10 471 --- --- --- --- SLC17A7 57030 broad.mit.edu 37 19 49937127 49937128 + Splice_Site INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:49937127_49937128insG ENST00000221485.3 - 7 896 c.e7-2 SLC17A7_ENST00000600601.1_Splice_Site|SLC17A7_ENST00000543531.1_Splice_Site NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) CGAAGCTGCCTGGGGGGGTCAG 0.678 7 234 --- --- --- --- TSKS 60385 broad.mit.edu 37 19 50243063 50243064 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:50243063_50243064insG ENST00000246801.3 - 11 1830_1831 c.1748_1749insC c.(1747-1749)caafs p.Q583fs TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 583 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CCCCCTGTTTTGGGGGGGTTCC 0.545 12 287 --- --- --- --- NAPSA 9476 broad.mit.edu 37 19 50862305 50862306 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:50862305_50862306insC ENST00000253719.2 - 8 1205_1206 c.997_998insG c.(997-999)ctgfs p.L333fs NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 333 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) GTTAAACCAGACCCCCCCAAGA 0.530 11 102 --- --- --- --- SHANK1 50944 broad.mit.edu 37 19 51192459 51192460 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:51192459_51192460insC ENST00000293441.1 - 15 2059_2060 c.2041_2042insG c.(2041-2043)caafs p.Q681fs SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.Q681fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.Q68fs|SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.Q672fs NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 681 PDZ. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding p.A681S(1) breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CTCACCCTTGGCCCCCCGGAGC 0.609 25 1007 --- --- --- --- SHANK1 50944 broad.mit.edu 37 19 51192558 51192559 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:51192558_51192559insG ENST00000391813.1 - 1 102_103 c.103_104insC c.(103-105)tttfs p.F35fs SHANK1_ENST00000391814.1_Intron|SHANK1_ENST00000293441.1_Intron|SHANK1_ENST00000359082.3_Intron Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1218 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) GCAGGAGAAATGGGGGGGTGGT 0.589 14 233 --- --- --- --- GPR32 2854 broad.mit.edu 37 19 51274914 51274915 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:51274914_51274915insC ENST00000270590.4 + 1 1194_1195 c.1057_1058insC c.(1057-1059)cccfs p.P353fs NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 353 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CCGTGGCAACGCCCCCCGGGAA 0.525 12 377 --- --- --- --- KLK1 3816 broad.mit.edu 37 19 51326962 51326963 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:51326962_51326963insC ENST00000301420.2 - 1 77_78 c.42_43insG c.(40-45)ggctggfs p.W15fs KLK1_ENST00000448701.2_5'UTR NM_002257.2 NP_002248.1 P06870 KLK1_HUMAN kallikrein 1 15 proteolysis nucleus serine-type endopeptidase activity breast(1)|large_intestine(4)|lung(7)|urinary_tract(1) 13 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCTCACCAGTCCCCCCCAGGG 0.653 20 304 --- --- --- --- ZNF432 9668 broad.mit.edu 37 19 52538164 52538165 + Frame_Shift_Ins INS - - ACAA TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:52538164_52538165insACAA ENST00000594154.1 - 5 979_980 c.767_768insTTGT c.(766-768)aagfs p.K256fs ZNF432_ENST00000221315.5_Frame_Shift_Ins_p.K256fs O94892 ZN432_HUMAN zinc finger protein 432 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) ATTTCTCTCTTTTATGAATTCT 0.381 18 140 --- --- --- --- ZNF600 162966 broad.mit.edu 37 19 53270328 53270329 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:53270328_53270329insT ENST00000338230.3 - 3 947_948 c.680_681insA c.(679-681)tagfs p.*227fs NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) ATACCTGACTGAAGGACTTTCC 0.421 8 683 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675768 54675769 + Frame_Shift_Ins INS - - C rs140898828 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:54675768_54675769insC ENST00000376591.4 - 2 312_313 c.181_182insG c.(181-183)gctfs p.A61fs TMC4_ENST00000301187.4_Frame_Shift_Ins_p.A55fs NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 61 integral to membrane p.A55T(1) breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CTCCTCCAGCGCCCCCCAAGGC 0.653 7 367 --- --- --- --- DEFB132 400830 broad.mit.edu 37 20 239780 239781 + Frame_Shift_Ins INS - - G rs138201035 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:239780_239781insG ENST00000382376.3 + 2 164_165 c.121_122insG c.(121-123)gggfs p.G41fs NM_207469.2 NP_997352.1 Q7Z7B7 DB132_HUMAN defensin, beta 132 41 defense response to bacterium extracellular region breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 4 ATGTTGCCACTGGGGGGAGACA 0.525 14 585 --- --- --- --- NRSN2 80023 broad.mit.edu 37 20 333922 333923 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:333922_333923insC ENST00000382291.3 + 4 498_499 c.258_259insC c.(256-261)gtccccfs p.VP86fs NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs|NRSN2_ENST00000492242.1_3'UTR NM_024958.2 NP_079234.1 Q9GZP1 NRSN2_HUMAN neurensin 2 86 integral to membrane|plasma membrane|transport vesicle endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 all_cancers(10;0.0834) GCTATGCAGTGCCCCCCAAGCT 0.644 12 301 --- --- --- --- PSMF1 9491 broad.mit.edu 37 20 1145690 1145691 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:1145690_1145691insC ENST00000335877.6 + 7 958_959 c.782_783insC c.(781-783)cccfs p.P261fs PSMF1_ENST00000333082.3_Frame_Shift_Ins_p.P261fs|PSMF1_ENST00000438768.2_Intron|PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000246015.4_Intron|PSMF1_ENST00000381898.4_Intron NM_006814.3 NP_006805.2 Q92530 PSMF1_HUMAN proteasome (prosome, macropain) inhibitor subunit 1 (PI31) 261 Pro-rich. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction proteasome core complex endopeptidase inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(8) 13 CCAGACCATCTCCCCCCGCCGG 0.579 10 353 --- --- --- --- NSFL1C 55968 broad.mit.edu 37 20 1426464 1426465 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:1426464_1426465insG ENST00000216879.4 - 8 1663_1664 c.796_797insC c.(796-798)ggtfs p.G266fs NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs|NSFL1C_ENST00000461211.1_5'UTR NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 266 chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 ACTCAACACCTGGGGGGCAGTG 0.510 12 636 --- --- --- --- PDYN 5173 broad.mit.edu 37 20 1963714 1963715 + In_Frame_Ins INS - - AAC TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:1963714_1963715insAAC ENST00000217305.2 - 3 241_242 c.16_17insGTT c.(16-18)ggt>GTTggt p.5_6insV PDYN_ENST00000540134.1_In_Frame_Ins_p.5_6insV|PDYN_ENST00000539905.1_In_Frame_Ins_p.5_6insV|RP4-684O24.5_ENST00000446562.1_RNA NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 5 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGCCAGGACCAGCCCCTGCCAG 0.564 194 104 --- --- --- --- FASTKD5 60493 broad.mit.edu 37 20 3128000 3128001 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:3128000_3128001insC ENST00000380266.3 - 2 2037_2038 c.1716_1717insG c.(1714-1719)ggcccafs p.GP572fs UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 572 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 ACGTACTGGGGCCCCCCCAGCA 0.436 9 141 --- --- --- --- CST1 1469 broad.mit.edu 37 20 23729753 23729754 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:23729753_23729754insC ENST00000304749.2 - 2 311_312 c.241_242insG c.(241-243)gaafs p.E81fs CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs NM_001898.2 NP_001889.2 P01037 CYTN_HUMAN cystatin SN 81 extracellular region cysteine-type endopeptidase inhibitor activity kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1) 13 Lung NSC(19;0.0676)|all_lung(19;0.148) GAAGTAATTCACCCCCCCAACG 0.554 35 410 --- --- --- --- DUSP15 128853 broad.mit.edu 37 20 30451726 30451727 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:30451726_30451727insC ENST00000278979.3 - 5 313_314 c.237_238insG c.(235-240)ggactgfs p.L80fs DUSP15_ENST00000375966.4_Frame_Shift_Ins_p.L80fs|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000339738.5_Frame_Shift_Ins_p.L83fs|DUSP15_ENST00000398083.1_5'UTR Q9H1R2 DUS15_HUMAN dual specificity phosphatase 15 80 Tyrosine-protein phosphatase. cytoplasm|plasma membrane protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(1)|lung(4)|pancreas(1)|stomach(1) 7 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) ACAAGGCAGTTCCCCCCATTAA 0.550 11 841 --- --- --- --- CBFA2T2 9139 broad.mit.edu 37 20 32224504 32224505 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:32224504_32224505insA ENST00000346541.3 + 10 1851_1852 c.1314_1315insA c.(1312-1317)tgaaaafs p.*K438fs CBFA2T2_ENST00000342704.5_Frame_Shift_Ins_p.*K429fs|CBFA2T2_ENST00000397800.1_Frame_Shift_Ins_p.*K409fs|CBFA2T2_ENST00000375279.2_Frame_Shift_Ins_p.*K438fs|CBFA2T2_ENST00000359606.3_Frame_Shift_Ins_p.*K448fs NM_005093.3 NP_005084.1 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 2 438 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2) 20 TGGAGTTTTGGAAAAAAACAGG 0.446 7 280 --- --- --- --- CNBD2 140894 broad.mit.edu 37 20 34618503 34618504 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:34618503_34618504insC ENST00000373973.3 + 12 1837_1838 c.1664_1665insC c.(1663-1665)cccfs p.P555fs CNBD2_ENST00000349339.1_Frame_Shift_Ins_p.P551fs|CNBD2_ENST00000538900.1_3'UTR cyclic nucleotide binding domain containing 2 CAGAAATACCTCCCCCCATTGA 0.455 11 853 --- --- --- --- RPRD1B 58490 broad.mit.edu 37 20 36718236 36718237 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:36718236_36718237insC ENST00000373433.4 + 7 1342_1343 c.940_941insC c.(940-942)cccfs p.P314fs RPRD1B_ENST00000471511.1_3'UTR NM_021215.3 NP_067038.1 Q9NQG5 RPR1B_HUMAN regulation of nuclear pre-mRNA domain containing 1B 314 endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1) 12 AGGGGGCTTAGCCCCCCTGCCC 0.540 12 1397 --- --- --- --- RALGAPB 57148 broad.mit.edu 37 20 37146232 37146233 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:37146232_37146233insC ENST00000262879.6 + 8 1419_1420 c.1135_1136insC c.(1135-1137)cccfs p.P379fs RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 379 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity p.H382fs*2(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TGTCAGTACCACCCCCCCACAT 0.446 15 212 --- --- --- --- DHX35 60625 broad.mit.edu 37 20 37650553 37650554 + Frame_Shift_Ins INS - - C rs142673637 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:37650553_37650554insC ENST00000252011.3 + 16 1601_1602 c.1568_1569insC c.(1567-1569)gccfs p.A523fs DHX35_ENST00000373325.2_Frame_Shift_Ins_p.A523fs|DHX35_ENST00000373323.4_Frame_Shift_Ins_p.A492fs NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 523 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) ATCTTTGTGGTCCCCCCAAACC 0.455 7 873 --- --- --- --- SLPI 6590 broad.mit.edu 37 20 43881730 43881731 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:43881730_43881731insG ENST00000338380.2 - 3 326_327 c.306_307insC c.(304-309)ccatttfs p.F103fs NM_003064.2 NP_003055.1 P03973 SLPI_HUMAN secretory leukocyte peptidase inhibitor 103 Elastase inhibitory domain.|WAP 2. extracellular region serine-type endopeptidase inhibitor activity lung(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) TCACAGAAATTGGGGGGGTTAA 0.535 22 312 --- --- --- --- PIGT 51604 broad.mit.edu 37 20 44050025 44050026 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:44050025_44050026insC ENST00000279036.6 + 9 1116_1117 c.1036_1037insC c.(1036-1038)cccfs p.P346fs PIGT_ENST00000545755.1_Frame_Shift_Ins_p.P84fs|PIGT_ENST00000535404.1_Frame_Shift_Ins_p.P191fs|PIGT_ENST00000279035.9_Frame_Shift_Ins_p.P244fs|PIGT_ENST00000372689.5_Intron|PIGT_ENST00000341555.5_Frame_Shift_Ins_p.P152fs|PIGT_ENST00000543458.2_Frame_Shift_Ins_p.P290fs NM_015937.5 NP_057021.2 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, class T 346 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1) 22 Myeloproliferative disorder(115;0.0122) TTACACAGAGGCCCCCCCAGTG 0.574 17 171 --- --- --- --- NCOA5 57727 broad.mit.edu 37 20 44691403 44691404 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:44691403_44691404insG ENST00000290231.6 - 8 1439_1440 c.1275_1276insC c.(1273-1278)cccctcfs p.L426fs NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 426 regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TGCTGGGAGGTGGGGGGTGCAG 0.619 21 1511 --- --- --- --- ARFGEF2 10564 broad.mit.edu 37 20 47587789 47587790 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:47587789_47587790insA ENST00000371917.4 + 10 1323_1324 c.1323_1324insA c.(1321-1326)tcaaaafs p.SK441fs NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 441 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TGGCCTTGTCCAAAAACGGCGT 0.436 8 1538 --- --- --- --- SALL4 57167 broad.mit.edu 37 20 50400982 50400983 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:50400982_50400983insC ENST00000217086.4 - 4 3094_3095 c.2983_2984insG c.(2983-2985)tccfs p.S995fs SALL4_ENST00000395997.3_Frame_Shift_Ins_p.S558fs|SALL4_ENST00000371539.3_Frame_Shift_Ins_p.S218fs NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 995 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GAGGGTAGGAACCCCCCCACTC 0.559 8 87 --- --- --- --- GNAS 2778 broad.mit.edu 37 20 57478756 57478757 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:57478756_57478757insC ENST00000371100.4 + 5 2823_2824 c.2271_2272insC c.(2269-2274)gtccccfs p.VP757fs GNAS_ENST00000371095.3_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000371085.3_Frame_Shift_Ins_p.VP114fs|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.VP115fs|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.VP743fs|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Frame_Shift_Ins_p.VP100fs|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.VP99fs NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 114 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.V760fs*23(1)|p.V117fs*23(1) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCAACCTGGTGCCCCCCGTGGA 0.559 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 22 936 --- --- --- --- OSBPL2 9885 broad.mit.edu 37 20 60854257 60854258 + Frame_Shift_Ins INS - - C rs79735057 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr20:60854257_60854258insC ENST00000313733.3 + 7 738_739 c.536_537insC c.(535-537)cccfs p.P179fs OSBPL2_ENST00000439951.2_Frame_Shift_Ins_p.P87fs|OSBPL2_ENST00000358053.2_Frame_Shift_Ins_p.P167fs NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 179 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) GTCAGTCACCACCCCCCCATCA 0.465 20 266 --- --- --- --- ETS2 2114 broad.mit.edu 37 21 40184981 40184981 + Frame_Shift_Del DEL C C - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr21:40184981delC ENST00000360214.3 + 4 587 c.127delC c.(127-129)tafs p.L43fs ETS2_ENST00000360938.3_Frame_Shift_Del_p.L43fs NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 43 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) TTTTCCTTCTCTAAATGAAGA 0.403 9 509 --- --- --- --- PDE9A 5152 broad.mit.edu 37 21 44171249 44171250 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr21:44171249_44171250insT ENST00000291539.6 + 9 737_738 c.677_678insT c.(676-678)attfs p.I226fs PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs|PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 226 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|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 TGTAAGTACAGTTTTTTGGATA 0.520 11 307 --- --- --- --- MCM3AP 8888 broad.mit.edu 37 21 47685950 47685951 + Frame_Shift_Ins INS - - G rs139382919 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr21:47685950_47685951insG ENST00000397708.1 - 12 3173_3174 c.2919_2920insC c.(2917-2922)cctcccfs p.P974fs MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.P974fs O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 974 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) TGACGAGGGACGGGGGGCAATG 0.589 9 223 --- --- --- --- ZNF280A 129025 broad.mit.edu 37 22 22869526 22869527 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:22869526_22869527insG ENST00000302097.3 - 2 680_681 c.428_429insC c.(427-429)cggfs p.R143fs NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) ACTGAGTCCCTGGGGGGAGCGA 0.455 10 461 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23974047 23974048 + In_Frame_Ins INS - - CAG TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:23974047_23974048insCAG ENST00000317749.5 - 1 460_461 c.163_164insCTG c.(163-165)ggg>CTGggg p.54_55insL C22orf43_ENST00000460169.1_5'UTR NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 54 endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 GTCTTGGCCCTCCGTGGCTCCC 0.540 10 208 --- --- --- --- ZNF70 7621 broad.mit.edu 37 22 24087085 24087086 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:24087085_24087086insG ENST00000341976.3 - 2 702_703 c.242_243insC c.(241-243)cggfs p.R81fs NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 81 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 GTCTGGTTCCTGGGGGGATACT 0.495 11 1459 --- --- --- --- ASPHD2 57168 broad.mit.edu 37 22 26838458 26838459 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:26838458_26838459insG ENST00000215906.5 + 3 1358_1359 c.920_921insG c.(919-921)gggfs p.G307fs NM_020437.4 NP_065170.2 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 307 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 16 GAGCTGGTGGTGGGGGGAGAGC 0.559 13 1021 --- --- --- --- CRYBA4 1413 broad.mit.edu 37 22 27021497 27021498 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:27021497_27021498insA ENST00000354760.3 + 4 246_247 c.211_212insA c.(211-213)aggfs p.R71fs CRYBA4_ENST00000466315.1_3'UTR NM_001886.2 NP_001877.1 P53673 CRBA4_HUMAN crystallin, beta A4 71 Beta/gamma crystallin 'Greek key' 2. camera-type eye development|visual perception soluble fraction structural constituent of eye lens p.R71*(1) large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 CATTCTGGAACGAGGCGAATAT 0.624 139 343 --- --- --- --- THOC5 8563 broad.mit.edu 37 22 29925230 29925231 + Splice_Site INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:29925230_29925231insG ENST00000490103.1 - 9 970 c.e9-2 THOC5_ENST00000397871.1_Splice_Site|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397872.1_Splice_Site|THOC5_ENST00000397873.2_Splice_Site NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ACGTCTTATCTGGGGGGCAAGA 0.535 18 1066 --- --- --- --- MTMR3 8897 broad.mit.edu 37 22 30415990 30415991 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:30415990_30415991insC ENST00000333027.3 + 17 2670_2671 c.2342_2343insC c.(2341-2343)gccfs p.A781fs MTMR3_ENST00000401950.2_Frame_Shift_Ins_p.A781fs|MTMR3_ENST00000351488.3_Frame_Shift_Ins_p.A781fs|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Frame_Shift_Ins_p.A645fs|MTMR3_ENST00000406629.1_Frame_Shift_Ins_p.A781fs NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 781 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TCTCTCCAGGTCCCCCCCAGGG 0.554 11 279 --- --- --- --- TBC1D10A 83874 broad.mit.edu 37 22 30691731 30691732 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:30691731_30691732insC ENST00000215790.7 - 4 682_683 c.518_519insG c.(517-519)gcafs p.A173fs TBC1D10A_ENST00000403477.3_Frame_Shift_Ins_p.A180fs|TBC1D10A_ENST00000403362.1_Frame_Shift_Ins_p.A85fs|RP1-130H16.18_ENST00000447976.1_Frame_Shift_Ins_p.A47fs NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 173 Rab-GAP TBC. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CTCACCCGTGGCCCCCCCGGGA 0.609 16 268 --- --- --- --- SLC35E4 339665 broad.mit.edu 37 22 31032723 31032724 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:31032723_31032724insG ENST00000343605.4 + 1 1085_1086 c.286_287insG c.(286-288)gggfs p.G96fs SLC35E4_ENST00000300385.8_Frame_Shift_Ins_p.G96fs|SLC35E4_ENST00000406566.1_Frame_Shift_Ins_p.G96fs NM_001001479.2 NP_001001479.1 Q6ICL7 S35E4_HUMAN solute carrier family 35, member E4 96 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 10 GGCATGCCACCGGGGGGCACGG 0.663 9 279 --- --- --- --- TIMP3 7078 broad.mit.edu 37 22 33255323 33255324 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:33255323_33255324insC ENST00000266085.6 + 5 896_897 c.595_596insC c.(595-597)cccfs p.P199fs SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron NM_000362.4 NP_000353.1 P35625 TIMP3_HUMAN TIMP metallopeptidase inhibitor 3 199 negative regulation of membrane protein ectodomain proteolysis|visual perception metal ion binding|metalloendopeptidase inhibitor activity|protein binding endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1) 7 CCGAGGATGGGCCCCCCCGGAT 0.604 11 120 --- --- --- --- TMPRSS6 164656 broad.mit.edu 37 22 37499435 37499436 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:37499435_37499436insG ENST00000381792.2 - 2 162_163 c.22_23insC c.(22-24)ggtfs p.G8fs TMPRSS6_ENST00000406725.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Ins_p.G8fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Ins_p.G17fs|TMPRSS6_ENST00000442782.2_Frame_Shift_Ins_p.G17fs Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 17 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 GCCAGCCACCTGGGGGGCCTCG 0.658 12 769 --- --- --- --- ATF4 468 broad.mit.edu 37 22 39917950 39917951 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:39917950_39917951insC ENST00000337304.2 + 2 1281_1282 c.399_400insC c.(397-402)caccccfs p.HP133fs ATF4_ENST00000396680.1_Frame_Shift_Ins_p.HP133fs|ATF4_ENST00000404241.2_Frame_Shift_Ins_p.HP133fs NM_001675.2 NP_001666.2 P18848 ATF4_HUMAN activating transcription factor 4 133 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) CTAATAAGCAGCCCCCCCAGAC 0.525 20 403 --- --- --- --- EP300 2033 broad.mit.edu 37 22 41574678 41574679 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:41574678_41574679insC ENST00000263253.7 + 31 8182_8183 c.6963_6964insC c.(6961-6966)caccccfs p.HP2321fs RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 2321 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CACAGTCCCAGCCCCCCCACTC 0.609 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 8 133 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610947 42610948 + Frame_Shift_Ins INS - - G rs138734341 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:42610947_42610948insG ENST00000359486.3 - 1 500_501 c.364_365insC c.(364-366)gggfs p.G122fs TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 122 Q -> R (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GCTGCTCCCCTGGGGGGGTCCA 0.564 27 488 --- --- --- --- MOV10L1 54456 broad.mit.edu 37 22 50553619 50553620 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chr22:50553619_50553620insG ENST00000262794.5 + 8 1286_1287 c.1203_1204insG c.(1201-1206)ccggggfs p.PG401fs MOV10L1_ENST00000395858.3_Frame_Shift_Ins_p.PG401fs|MOV10L1_ENST00000540615.1_Frame_Shift_Ins_p.PG381fs|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000545383.1_Frame_Shift_Ins_p.PG401fs NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 401 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA 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) AGCCTGAGCCTGGGGGGCTTGT 0.460 9 730 --- --- --- --- DHRSX 207063 broad.mit.edu 37 X 2343335 2343336 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:2343335_2343336insG ENST00000334651.5 - 2 171_172 c.119_120insC c.(118-120)ccgfs p.P40fs NM_145177.2 NP_660160.2 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 40 binding|oxidoreductase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1) 16 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) GGTCAGGTCGTGGGGGGAAAAC 0.455 8 195 --- --- --- --- ARSF 416 broad.mit.edu 37 X 3007554 3007555 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:3007554_3007555insC ENST00000381127.1 + 7 1069_1070 c.848_849insC c.(847-849)tctfs p.S283fs ARSF_ENST00000359361.2_Frame_Shift_Ins_p.S283fs|ARSF_ENST00000537104.1_Frame_Shift_Ins_p.S283fs NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 283 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AAGGAAACTTTCCTTCTCTTTT 0.426 80 1551 --- --- --- --- ZNF645 158506 broad.mit.edu 37 X 22291220 22291221 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:22291220_22291221insG ENST00000323684.1 + 1 156_157 c.112_113insG c.(112-114)gggfs p.G38fs NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 38 intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 TGGTTACCGTTGGGGGGACATT 0.351 7 797 --- --- --- --- USP11 8237 broad.mit.edu 37 X 47099225 47099227 + In_Frame_Del DEL TAC TAC - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:47099225_47099227delTAC ENST00000377107.2 + 4 808_810 c.454_456delTAC c.(454-456)del p.Y152del USP11_ENST00000218348.3_In_Frame_Del_p.Y195del P51784 UBP11_HUMAN ubiquitin specific peptidase 11 195 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 GGTCGAAGTGTACCCAGTAGAAC 0.502 16 420 --- --- --- --- SSX3 10214 broad.mit.edu 37 X 48207024 48207025 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:48207024_48207025insC ENST00000298396.2 - 7 533_534 c.481_482insG c.(481-483)acafs p.T161fs SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 CCAGGCATGTTCCCCCCTTTTG 0.480 20 1694 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50345633 50345634 + Splice_Site INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:50345633_50345634insT ENST00000376020.2 - 7 3966_3967 c.3942_splice c.e7+1 p.N1314_splice SHROOM4_ENST00000289292.7_Splice_Site_p.N1314_splice|SHROOM4_ENST00000460112.3_Splice_Site_p.N1198_splice NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1314 ASD2. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding p.K1314fs*23(1) 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) AAAACTTTACCTTTTTTTGAGC 0.450 8 781 --- --- --- --- OPHN1 4983 broad.mit.edu 37 X 67283963 67283964 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:67283963_67283964insG ENST00000355520.5 - 21 2531_2532 c.1890_1891insC c.(1888-1893)ccagccfs p.A631fs OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 631 Pro-rich. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 TGTGGTGGCTTGGGGGGTTCTA 0.475 8 802 --- --- --- --- DCX 1641 broad.mit.edu 37 X 110644444 110644445 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:110644444_110644445insG ENST00000338081.3 - 3 892_893 c.721_722insC c.(721-723)gtcfs p.V241fs DCX_ENST00000488120.1_Frame_Shift_Ins_p.V160fs|DCX_ENST00000356220.3_Frame_Shift_Ins_p.V160fs|DCX_ENST00000356915.2_Frame_Shift_Ins_p.V160fs|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Frame_Shift_Ins_p.V160fs NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 241 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 AGCCAAGGACTGGGGGGCTTTC 0.510 10 570 --- --- --- --- ZDHHC9 51114 broad.mit.edu 37 X 128945383 128945384 + Splice_Site INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:128945383_128945384insG ENST00000357166.6 - 9 1270_1271 c.881_splice c.e9+1 p.C294_splice ZDHHC9_ENST00000371064.3_Splice_Site_p.C294_splice NM_016032.3 NP_057116.2 Q9Y397 ZDHC9_HUMAN zinc finger, DHHC-type containing 9 294 endoplasmic reticulum membrane|Golgi membrane|integral to membrane acyltransferase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 19 CCTGAGCACCTGGGGGGCAAGG 0.525 7 259 --- --- --- --- IGSF1 3547 broad.mit.edu 37 X 130411113 130411114 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 7f666874-05ea-4988-937b-d122344f4ea6 g.chrX:130411113_130411114insG ENST00000370904.1 - 20 3290_3291 c.2380_2381insC c.(2380-2382)ccafs p.P794fs IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370903.3_Frame_Shift_Ins_p.P808fs|IGSF1_ENST00000370910.1_Frame_Shift_Ins_p.P794fs|IGSF1_ENST00000361420.3_Frame_Shift_Ins_p.P803fs Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 803 Ig-like C2-type 8. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CATATGCTGGTGGGGGGTGGAG 0.510 9 723 --- --- --- --- POLQ 10721 broad.mit.edu 37 3 121238716 121238723 + Splice_Site DEL ACCTACTG ACCTACTG - TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr3:121238716_121238723delACCTACTG ENST00000264233.5 - 9 1591_1597 c.1468_splice c.e9+1 p.488_splice NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 488 Helicase C-terminal. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) AAACTCACTTACCTACTGTGTCCACTCC 0.428 DNA polymerases (catalytic subunits) 21 499 --- --- --- --- RPL34-AS1 285456 broad.mit.edu 37 4 109512924 109512925 + RNA INS - - AG rs60609975 TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr4:109512924_109512925insAG ENST00000507248.1 - 0 90 NR_026968.1 aagaaagaaaaagagagagaga 0.351 3 3 --- --- --- --- HLA-V 352962 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 2 4 --- --- --- --- VPS13C 54832 broad.mit.edu 37 15 62254983 62254984 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr15:62254983_62254984insA ENST00000261517.5 - 33 3472_3473 c.3399_3400insT c.(3397-3402)attcacfs p.H1134fs VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.H1091fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.H1134fs|VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.H1091fs NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1134 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ACATCTGTGACAATAATATTTT 0.322 30 150 --- --- --- --- RP11-19N8.2 0 broad.mit.edu 37 16 33030488 33030489 + RNA INS - - GAAG TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr16:33030488_33030489insGAAG ENST00000567619.1 - 0 499 aaggaaggaaagaaggaaggaa 0.426 5 1 --- --- --- --- ROCK1P1 727758 broad.mit.edu 37 18 118121 118121 + RNA DEL T T - TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr18:118121delT ENST00000576266.1 + 0 529 GTTTGACTAATTTTTTTTTTA 0.214 6 4 --- --- --- --- AC008984.2 0 broad.mit.edu 37 19 54841975 54841975 + RNA DEL C C - rs11318140 TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr19:54841975delC ENST00000507363.1 - 0 430 GAGCTTCCCTCtttttttttt 0.498 2 4 --- --- --- --- COL18A1 80781 broad.mit.edu 37 21 46924414 46924422 + In_Frame_Del DEL CCCGGCCCC CCCGGCCCC - rs72301048 TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 7f666874-05ea-4988-937b-d122344f4ea6 g.chr21:46924414_46924422delCCCGGCCCC ENST00000359759.4 + 33 4078_4086 c.4057_4065delCCCGGCCCC c.(4057-4065)del p.PGP1362del COL18A1_ENST00000355480.5_In_Frame_Del_p.PGP1127del|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_In_Frame_Del_p.PGP947del P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1362 Triple-helical region 9 (COL9). Missing (in Ref. 1; AAC39658/AAC39659, 2; AAR83296/AAR83297/AAR83298, 4; AAH33715/ AAH63833 and 5; AAA51864). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CTCCAGCCTgcccggcccccccggccccc 0.699 5 7 --- --- --- --- SLC2A5 6518 broad.mit.edu 37 1 9101933 9101934 + Frame_Shift_Ins INS - - C rs148745114 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:9101933_9101934insC ENST00000377424.4 - 5 660_661 c.481_482insG c.(481-483)tctfs p.S161fs SLC2A5_ENST00000536305.1_Frame_Shift_Ins_p.S102fs|SLC2A5_ENST00000377414.3_Frame_Shift_Ins_p.S161fs|SLC2A5_ENST00000535586.1_Frame_Shift_Ins_p.S46fs NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 161 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CACCCCGAGAGCCCCCCGCAGG 0.530 8 297 --- --- --- --- FBLIM1 54751 broad.mit.edu 37 1 16091532 16091533 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:16091532_16091533insC ENST00000375766.3 + 3 694_695 c.54_55insC c.(52-57)gcccccfs p.AP18fs FBLIM1_ENST00000441801.2_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000375771.1_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000332305.5_Frame_Shift_Ins_p.AP18fs|FBLIM1_ENST00000400773.1_Frame_Shift_Ins_p.AP18fs NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 18 Filamin-binding. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) TCACCCTGGCACCCCCGCGCCG 0.653 8 854 --- --- --- --- LOC100129138 100129138 broad.mit.edu 37 1 104615945 104615946 + RNA INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:104615945_104615946insC ENST00000418362.1 + 0 301_302 NR_033990.1 GCTTGAGAAGGCCCCCCGACAA 0.559 2 4 --- --- --- --- PDE4DIP 9659 broad.mit.edu 37 1 144854629 144854629 + Frame_Shift_Del DEL C C - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:144854629delC ENST00000369359.4 - 45 7287 c.7249delG c.(7249-7251)aafs p.E2417fs PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.E2281fs|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.E2366fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.E2281fs|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.E2175fs Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2281 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTTCTCAGTTCCAGAAGTTCC 0.488 T PDGFRB MPD 8 320 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152329462 152329463 + Frame_Shift_Ins INS - - AGCTG TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:152329462_152329463insAGCTG ENST00000388718.5 - 3 871_872 c.799_800insCAGCT c.(799-801)ttcfs p.F267fs FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 267 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) TGAACCTGAACAGCTAGACCCA 0.455 38 123 --- --- --- --- CASQ1 844 broad.mit.edu 37 1 160168790 160168790 + Frame_Shift_Del DEL A A - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:160168790delA ENST00000368079.3 + 9 1188 c.913delA c.(913-915)ctfs p.T305fs CASQ1_ENST00000467691.1_Frame_Shift_Del_p.T32fs|CASQ1_ENST00000368078.3_Frame_Shift_Del_p.T311fs NM_001231.4 NP_001222.3 P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) 311 mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCAAGATAACACTGAAAACCC 0.502 7 416 --- --- --- --- ZBTB37 84614 broad.mit.edu 37 1 173839523 173839524 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:173839523_173839524insC ENST00000367704.1 + 3 559_560 c.160_161insC c.(160-162)cccfs p.P54fs ZBTB37_ENST00000367701.4_Frame_Shift_Ins_p.P54fs|ZBTB37_ENST00000432989.1_Frame_Shift_Ins_p.P54fs|ZBTB37_ENST00000427304.1_Frame_Shift_Ins_p.P54fs|ZBTB37_ENST00000367702.1_Frame_Shift_Ins_p.P54fs Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 54 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4) 13 GGCTGCCAGCTCCCCCTATTTC 0.485 7 1112 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183514220 183514221 + Frame_Shift_Del DEL CA CA - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:183514220_183514221delCA ENST00000367537.3 + 17 2287_2288 c.2092_2093delCA c.(2092-2094)cfs p.H698fs SMG7_ENST00000347615.2_Frame_Shift_Del_p.H715fs|SMG7_ENST00000508461.1_Frame_Shift_Del_p.H673fs|SMG7_ENST00000507469.1_Frame_Shift_Del_p.H669fs|SMG7_ENST00000515829.2_Frame_Shift_Del_p.H669fs|SMG7_ENST00000456731.2_Frame_Shift_Del_p.H627fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 715 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GAAACAGTCCCACATTCCTTAC 0.545 45 633 --- --- --- --- NBAS 51594 broad.mit.edu 37 2 15615948 15615949 + Frame_Shift_Ins INS - - TC TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:15615948_15615949insTC ENST00000281513.5 - 14 1228_1229 c.1203_1204insGA c.(1201-1206)gtctttfs p.F402fs NBAS_ENST00000441750.1_Frame_Shift_Ins_p.F402fs NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 402 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 CGAGCTAAAGTCACTGCACTGT 0.391 13 30 --- --- --- --- ABCG5 64240 broad.mit.edu 37 2 44055180 44055181 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:44055180_44055181insC ENST00000405322.1 - 4 1228_1229 c.332_333insG c.(331-333)gatfs p.D111fs ABCG5_ENST00000543989.1_5'UTR|ABCG5_ENST00000260645.1_Frame_Shift_Ins_p.D192fs Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 192 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CCGTGGAAATGCCCCCCAAGCT 0.589 10 325 --- --- --- --- FSHR 2492 broad.mit.edu 37 2 49191001 49191002 + Frame_Shift_Del DEL GA GA - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:49191001_49191002delGA ENST00000406846.2 - 10 1077_1078 c.958_959delTC c.(958-960)cfs p.S321fs FSHR_ENST00000346173.3_Frame_Shift_Del_p.S259fs|FSHR_ENST00000541117.1_Frame_Shift_Del_p.S57fs|FSHR_ENST00000304421.4_Frame_Shift_Del_p.S295fs NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 321 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GCTGTAGCTGGACTCATTGTCT 0.441 Gonadal Dysgenesis, 46 XX 54 248 --- --- --- --- WBP1 23559 broad.mit.edu 37 2 74685769 74685770 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:74685769_74685770insG ENST00000393972.3 + 1 243_244 c.40_41insG c.(40-42)gggfs p.G14fs WBP1_ENST00000494741.1_3'UTR|WBP1_ENST00000409737.1_Frame_Shift_Ins_p.G14fs|WBP1_ENST00000233615.2_Frame_Shift_Ins_p.G14fs Q96G27 WBP1_HUMAN WW domain binding protein 1 14 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 CGAGGAGGCCTGGGGGGCACTT 0.634 8 207 --- --- --- --- TMEM37 140738 broad.mit.edu 37 2 120194795 120194795 + Frame_Shift_Del DEL A A - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:120194795delA ENST00000306406.4 + 2 387 c.352delA c.(352-354)aafs p.K118fs TMEM37_ENST00000409826.1_Frame_Shift_Del_p.K130fs|TMEM37_ENST00000465296.1_3'UTR NM_183240.2 NP_899063.2 Q8WXS4 CCGL_HUMAN transmembrane protein 37 118 integral to membrane calcium channel activity|voltage-gated ion channel activity breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 GTGCGAGGACAAACACTCACA 0.617 8 174 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168102336 168102337 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr2:168102336_168102337insG ENST00000409195.1 + 9 4523_4524 c.4434_4435insG c.(4432-4437)acaggafs p.G1479fs XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.G1257fs|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.G1479fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1304 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 AGACAGTCACTCAGGAAGATGT 0.371 11 254 --- --- --- --- BHLHE40 8553 broad.mit.edu 37 3 5025346 5025347 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:5025346_5025347insC ENST00000256495.3 + 5 1811_1812 c.1208_1209insC c.(1207-1209)accfs p.T403fs NM_003670.2 NP_003661.1 O14503 BHE40_HUMAN basic helix-loop-helix family, member e40 403 Golgi apparatus|nucleolus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2) 12 CTGAAGCCAATCCCCCCTTTAA 0.485 7 917 --- --- --- --- GALNT15 117248 broad.mit.edu 37 3 16254154 16254155 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:16254154_16254155insC ENST00000339732.5 + 6 1779_1780 c.1276_1277insC c.(1276-1278)cccfs p.P426fs GALNT15_ENST00000437509.1_Frame_Shift_Ins_p.P426fs NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 p.S426F(1) GGATTCCCATTCCCCCCTCGAC 0.550 7 830 --- --- --- --- QARS 5859 broad.mit.edu 37 3 49137078 49137078 + Frame_Shift_Del DEL C C - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:49137078delC ENST00000306125.6 - 16 1728 c.1391delG c.(1390-1392)ccfs p.R464fs QARS_ENST00000414533.1_Frame_Shift_Del_p.R453fs P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 464 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) GTAGGAAGAGCGTCTGGGGTG 0.577 8 98 --- --- --- --- MINA 84864 broad.mit.edu 37 3 97668725 97668726 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:97668725_97668726insG ENST00000333396.6 - 7 1604_1605 c.1022_1023insC c.(1021-1023)ctafs p.L341fs MINA_ENST00000360258.4_Frame_Shift_Ins_p.L340fs|MINA_ENST00000394198.2_Frame_Shift_Ins_p.L341fs NM_001042533.2|NM_032778.5 NP_001035998.1|NP_116167.3 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen 341 ribosome biogenesis cytoplasm|nucleolus p.P340R(1) breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1) 13 CCGCAGAGTAAGGGGGGAGTCT 0.510 7 773 --- --- --- --- KIAA2018 205717 broad.mit.edu 37 3 113376413 113376417 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:113376413_113376417delTTGAG ENST00000316407.4 - 7 4522_4526 c.4112_4116delCTCAA c.(4111-4116)afs p.TQ1371fs KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.TQ1371fs NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 1371 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TGACCATCATTTGAGTTTGGTCAGA 0.473 27 239 --- --- --- --- HGD 3081 broad.mit.edu 37 3 120357337 120357338 + Frame_Shift_Ins INS - - C rs34214309 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:120357337_120357338insC ENST00000283871.5 - 12 1429_1430 c.970_971insG c.(970-972)tgcfs p.C324fs NM_000187.3 NP_000178.2 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 324 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) CTTATCAGCAACCCCCCATCGA 0.480 7 734 --- --- --- --- ACPL2 92370 broad.mit.edu 37 3 140997216 140997217 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:140997216_140997217insT ENST00000508812.1 + 2 1992_1993 c.85_86insT c.(85-87)aatfs p.N29fs ACPL2_ENST00000286353.4_Frame_Shift_Ins_p.N38fs|ACPL2_ENST00000393010.2_Frame_Shift_Ins_p.N38fs|ACPL2_ENST00000504264.1_Frame_Shift_Ins_p.N21fs|ACPL2_ENST00000393007.1_Frame_Shift_Ins_p.N22fs|ACPL2_ENST00000502783.1_5'UTR|RP11-438D8.2_ENST00000507698.1_RNA Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 38 extracellular region acid phosphatase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2) 23 TCCTAAGAATGGAATGAGTAGC 0.564 9 224 --- --- --- --- TRIM59 286827 broad.mit.edu 37 3 160156831 160156832 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:160156831_160156832insT ENST00000543469.1 - 2 354_355 c.140_141insA c.(139-141)tagfs p.*47fs TRIM59_ENST00000309784.4_Frame_Shift_Ins_p.*47fs|RP11-432B6.3_ENST00000483754.1_Frame_Shift_Ins_p.*47fs Q8IWR1 TRI59_HUMAN tripartite motif containing 59 47 integral to membrane|intracellular zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3) 15 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GTAAAGGTCTCCATATATAAAA 0.361 23 329 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 21 6 --- --- --- --- UBXN7 26043 broad.mit.edu 37 3 196094916 196094917 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:196094916_196094917insG ENST00000296328.4 - 8 890_891 c.816_817insC c.(814-819)ccaaaafs p.PK272fs UBXN7_ENST00000428095.1_Frame_Shift_Ins_p.PK110fs|UBXN7_ENST00000535858.1_Frame_Shift_Ins_p.PK124fs NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 272 protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 GCACATTTTTTGGGGGGACTGC 0.396 8 433 --- --- --- --- TAPT1-AS1 202020 broad.mit.edu 37 4 16257860 16257860 + RNA DEL T T - rs146274448 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:16257860delT ENST00000570786.1 + 0 234 TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA NR_027696.1 AGGGTTTGTCTTTTTTTTTTT 0.383 3 5 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648518 41648519 + Frame_Shift_Ins INS - - GAGT TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:41648518_41648519insGAGT ENST00000313860.7 + 12 1327_1328 c.1273_1274insGAGT c.(1273-1275)gctfs p.A425fs LIMCH1_ENST00000381753.4_Frame_Shift_Ins_p.A259fs|LIMCH1_ENST00000503057.1_Frame_Shift_Ins_p.A810fs|LIMCH1_ENST00000512820.1_Frame_Shift_Ins_p.A413fs|LIMCH1_ENST00000513024.1_Frame_Shift_Ins_p.A254fs|LIMCH1_ENST00000511496.1_Frame_Shift_Ins_p.A266fs|LIMCH1_ENST00000509277.1_Frame_Shift_Ins_p.A259fs|LIMCH1_ENST00000512632.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000514096.1_Frame_Shift_Ins_p.A266fs|LIMCH1_ENST00000508501.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000512946.1_Frame_Shift_Ins_p.A425fs|LIMCH1_ENST00000396595.3_Frame_Shift_Ins_p.A271fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 425 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 GAGAGAGAGAGAGCTGCATGAA 0.465 39 549 --- --- --- --- ZNF827 152485 broad.mit.edu 37 4 146686192 146686193 + Frame_Shift_Ins INS - - G rs151005596 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:146686192_146686193insG ENST00000508784.1 - 13 3404_3405 c.3177_3178insC c.(3175-3180)ccaacafs p.T1060fs ZNF827_ENST00000379448.4_Frame_Shift_Ins_p.T1060fs|ZNF827_ENST00000513320.1_Frame_Shift_Ins_p.T710fs Q17R98 ZN827_HUMAN zinc finger protein 827 1060 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P1059P(2) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) AGCAGCTGTTCGGGGGTCTTCA 0.475 15 862 --- --- --- --- PPID 5481 broad.mit.edu 37 4 159644421 159644422 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:159644421_159644422insG ENST00000307720.3 - 1 126_127 c.19_20insC c.(19-21)agcfs p.S7fs NM_005038.2 NP_005029.1 Q08752 PPID_HUMAN peptidylprolyl isomerase D 7 protein folding cytoplasm|intermediate filament cytoskeleton cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0159) GGGCTTGGCTTGGGGGGACGGG 0.609 7 255 --- --- --- --- WDR17 116966 broad.mit.edu 37 4 177046335 177046336 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:177046335_177046336insA ENST00000393643.2 + 5 871_872 c.619_620insA c.(619-621)ggafs p.G207fs WDR17_ENST00000508596.1_Frame_Shift_Ins_p.G207fs|WDR17_ENST00000280190.4_Frame_Shift_Ins_p.G231fs|WDR17_ENST00000507824.2_Frame_Shift_Ins_p.G214fs NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 231 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 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;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) GGCCTTGGAATGGGACCCACTA 0.361 159 257 --- --- --- --- PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:6755013_6755014delAC ENST00000230859.6 + 13 1713_1714 c.1584_1585delAC c.(1582-1587)aaacfs p.KH528fs NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 528 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAGGAAAAAACACACACACAC 0.653 8 220 --- --- --- --- OCLN 100506658 broad.mit.edu 37 5 68809915 68809916 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:68809915_68809916insC ENST00000355237.2 + 4 1306_1307 c.870_871insC c.(868-873)caccccfs p.HP290fs OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Frame_Shift_Ins_p.HP39fs|OCLN_ENST00000380766.2_Intron|OCLN_ENST00000396442.2_Frame_Shift_Ins_p.HP290fs NM_002538.3 NP_002529.1 Q16625 OCLN_HUMAN occludin 290 cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) ATGATGAGCAGCCCCCCAATGT 0.347 7 409 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 80074560 80074561 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:80074560_80074561insA ENST00000265081.6 + 17 2420_2421 c.2340_2341insA c.(2338-2343)ttactcfs p.L781fs NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 781 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TGAGCCGCTTTCACTCTCCTTT 0.401 Mismatch excision repair (MMR) 11 129 --- --- --- --- SEC24A 10802 broad.mit.edu 37 5 134053794 134053795 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:134053794_134053795insC ENST00000398844.2 + 20 3189_3190 c.2901_2902insC c.(2899-2904)caccccfs p.HP967fs NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 967 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCATACCTCAGCCCCCCATTCT 0.426 19 572 --- --- --- --- DNAH8 1769 broad.mit.edu 37 6 38783331 38783332 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:38783331_38783332insG ENST00000359357.3 + 24 3024_3025 c.2770_2771insG c.(2770-2772)gggfs p.G924fs DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.G924fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.G1141fs dynein, axonemal, heavy chain 8 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 AGTGGCTCACTGGGGGCAACAG 0.490 10 916 --- --- --- --- TTBK1 84630 broad.mit.edu 37 6 43227329 43227330 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:43227329_43227330insC ENST00000259750.4 + 12 1392_1393 c.1309_1310insC c.(1309-1311)cccfs p.P437fs TTBK1_ENST00000304139.5_Frame_Shift_Ins_p.P386fs NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 437 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CCCAGTGCGTGCCCCCCCAGAC 0.673 2 4 --- --- --- --- EIF3B 8662 broad.mit.edu 37 7 2405969 2405970 + Frame_Shift_Ins INS - - C rs142377401 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:2405969_2405970insC ENST00000360876.4 + 7 1231_1232 c.1175_1176insC c.(1174-1176)accfs p.T392fs EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.T392fs NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 392 Sufficient for interaction with EIF3E. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) GTGACCTTTAGCCCCCTGATGG 0.545 8 1446 --- --- --- --- SCIN 85477 broad.mit.edu 37 7 12662466 12662470 + Frame_Shift_Del DEL ATGAT ATGAT - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:12662466_12662470delATGAT ENST00000297029.5 + 5 808_812 c.707_711delATGAT c.(706-711)gfs p.DD236fs SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000445618.2_5'UTR|SCIN_ENST00000519209.1_5'UTR NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin 236 Actin-severing (Potential). 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) GGAGGTGATGATGATGACATTATAG 0.400 67 360 --- --- --- --- OSBPL3 26031 broad.mit.edu 37 7 24881942 24881943 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:24881942_24881943insA ENST00000313367.2 - 13 1807_1808 c.1356_1357insT c.(1354-1359)ttatgcfs p.LC452fs OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.LC385fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.LC416fs|OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.LC385fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.LC421fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.LC421fs|OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.LC416fs NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 452 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TCCTGAGCATCAAAAAACTCAG 0.401 7 919 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55221747 55221748 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:55221747_55221748insC ENST00000275493.2 + 7 968_969 c.791_792insC c.(790-792)tccfs p.S264fs EGFR_ENST00000454757.2_Frame_Shift_Ins_p.S211fs|EGFR_ENST00000455089.1_Frame_Shift_Ins_p.S219fs|EGFR_ENST00000420316.2_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000342916.3_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000442591.1_Frame_Shift_Ins_p.S264fs|EGFR_ENST00000344576.2_Frame_Shift_Ins_p.S264fs NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 264 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AAGGACACCTGCCCCCCACTCA 0.579 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 7 305 --- --- --- --- CLIP2 7461 broad.mit.edu 37 7 73731912 73731913 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:73731912_73731913insG ENST00000223398.6 + 2 363_364 c.36_37insG c.(34-39)cgggggfs p.RG12fs CLIP2_ENST00000395060.1_Frame_Shift_Ins_p.RG12fs|CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.RG12fs NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 12 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 CCCCCGGCCGTGGGGGGAAGCA 0.658 9 855 --- --- --- --- ZNF777 27153 broad.mit.edu 37 7 149152746 149152747 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:149152746_149152747insG ENST00000247930.4 - 2 690_691 c.367_368insC c.(367-369)ccafs p.P123fs NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TTCCTGGTGGTGGGGGGAGTGG 0.619 7 405 --- --- --- --- CSMD1 64478 broad.mit.edu 37 8 3267089 3267090 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:3267089_3267090insG ENST00000602557.1 - 14 2157_2158 c.1602_1603insC c.(1600-1605)cccctafs p.L535fs CSMD1_ENST00000542608.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000539096.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000602723.1_Frame_Shift_Ins_p.L535fs|CSMD1_ENST00000537824.1_Frame_Shift_Ins_p.L534fs|CSMD1_ENST00000520002.1_Frame_Shift_Ins_p.L535fs|CSMD1_ENST00000400186.3_Frame_Shift_Ins_p.L535fs Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 535 Sushi 3. 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) TTCCCATAGGCGGGGATTCCAG 0.480 19 60 --- --- --- --- PRSS55 203074 broad.mit.edu 37 8 10387069 10387070 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr8:10387069_10387070insG ENST00000328655.3 + 2 247_248 c.207_208insG c.(205-210)acggggfs p.TG69fs PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Frame_Shift_Ins_p.TG69fs NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 69 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 CCAGAATCACAGGGGGGATGGA 0.500 21 2840 --- --- --- --- BNC2 54796 broad.mit.edu 37 9 16436374 16436375 + Frame_Shift_Ins INS - - G rs116528562 byFrequency TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:16436374_16436375insG ENST00000380672.4 - 6 1874_1875 c.1817_1818insC c.(1816-1818)cccfs p.P606fs BNC2_ENST00000545497.1_Frame_Shift_Ins_p.P511fs|BNC2_ENST00000380666.2_Frame_Shift_Ins_p.P606fs|BNC2_ENST00000380667.2_Frame_Shift_Ins_p.P539fs NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 606 Pro-rich. 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) CAGAGGGTGGCGGGGGGTGCTG 0.564 13 750 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94493291 94493292 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:94493291_94493292insC ENST00000375708.3 - 7 1281_1282 c.1083_1084insG c.(1081-1086)ggacgcfs p.R362fs ROR2_ENST00000375715.1_Frame_Shift_Ins_p.R222fs|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 362 Kringle. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding 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 CAGTAGGCGTGCCCCCCTCCAA 0.629 9 523 --- --- --- --- ZNF510 22869 broad.mit.edu 37 9 99521719 99521719 + Frame_Shift_Del DEL A A - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:99521719delA ENST00000375231.1 - 6 2043 c.1393delT c.(1393-1395)gtfs p.C465fs ZNF510_ENST00000223428.4_Frame_Shift_Del_p.C465fs Q9Y2H8 ZN510_HUMAN zinc finger protein 510 465 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) GTTTTTCCACATTCATTACAT 0.373 7 231 --- --- --- --- NTMT1 28989 broad.mit.edu 37 9 132395075 132395076 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr9:132395075_132395076insG ENST00000372486.1 + 2 442_443 c.93_94insG c.(91-96)ctggggfs p.LG31fs NTMT1_ENST00000372481.3_Frame_Shift_Ins_p.LG31fs|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372483.4_Frame_Shift_Ins_p.LG31fs|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000372480.1_Frame_Shift_Ins_p.LG31fs|NTMT1_ENST00000459968.2_Frame_Shift_Ins_p.LG31fs N-terminal Xaa-Pro-Lys N-methyltransferase 1 ACGGCATGCTTGGGGGGTATGG 0.550 23 797 --- --- --- --- ZNF32 7580 broad.mit.edu 37 10 44139605 44139605 + Frame_Shift_Del DEL G G - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:44139605delG ENST00000395797.1 - 3 903 c.715delC c.(715-717)acfs p.H239fs ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Frame_Shift_Del_p.H239fs NM_001005368.1 NP_001005368.1 P17041 ZNF32_HUMAN zinc finger protein 32 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 14 all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157) Lung(62;0.179) TCTCCTGTGTGGATTTTGCCA 0.547 7 31 --- --- --- --- UBTD1 80019 broad.mit.edu 37 10 99330115 99330116 + Frame_Shift_Ins INS - - CT TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:99330115_99330116insCT ENST00000370664.3 + 3 855_856 c.519_520insCT c.(517-522)catcaafs p.Q174fs NM_024954.3 NP_079230.1 Q9HAC8 UBTD1_HUMAN ubiquitin domain containing 1 174 Ubiquitin-like. central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1) 7 Colorectal(252;0.162) Epithelial(162;3.04e-10)|all cancers(201;2.86e-08) CAGTGGGGCAGCTCAAGAGGCA 0.678 14 13 --- --- --- --- SEC31B 25956 broad.mit.edu 37 10 102265254 102265255 + Splice_Site INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:102265254_102265255insG ENST00000370345.3 - 10 1142 c.e10-2 SEC31B_ENST00000451524.1_Splice_Site NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) AGAGGAGATCTGGGGGGAAAAG 0.530 9 500 --- --- --- --- DMBT1 1755 broad.mit.edu 37 10 124402882 124402883 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:124402882_124402883insC ENST00000368909.3 + 53 7316_7317 c.7210_7211insC c.(7210-7212)cccfs p.P2404fs DMBT1_ENST00000330163.4_Frame_Shift_Ins_p.P1776fs|DMBT1_ENST00000359586.6_Frame_Shift_Ins_p.P1124fs|DMBT1_ENST00000368956.2_Frame_Shift_Ins_p.P1776fs|DMBT1_ENST00000338354.3_Frame_Shift_Ins_p.P2404fs|DMBT1_ENST00000368955.3_Frame_Shift_Ins_p.P2394fs|DMBT1_ENST00000344338.3_Frame_Shift_Ins_p.P2394fs NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2404 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 calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface 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) CCAGCTGCAGACCCCCCCACGC 0.644 8 45 --- --- --- --- PIK3C2A 5286 broad.mit.edu 37 11 17190948 17190949 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:17190948_17190949insT ENST00000265970.7 - 1 339_340 c.340_341insA c.(340-342)accfs p.T114fs PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 114 Interaction with clathrin. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) TAATACAGGTGTTTTTTTAGTC 0.406 7 743 --- --- --- --- PRR5L 79899 broad.mit.edu 37 11 36484165 36484166 + Frame_Shift_Ins INS - - C rs143061946 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:36484165_36484166insC ENST00000378867.3 + 10 1341_1342 c.986_987insC c.(985-987)tccfs p.S329fs PRR5L_ENST00000530639.1_Frame_Shift_Ins_p.S329fs|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Frame_Shift_Ins_p.S256fs NM_024841.4 NP_079117.3 Q6MZQ0 PRR5L_HUMAN proline rich 5 like 329 breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1) 19 CCACCCAGCTTCCCCCCGCCCC 0.673 7 311 --- --- --- --- LRP4 4038 broad.mit.edu 37 11 46900582 46900588 + Splice_Site DEL TGTAGAC TGTAGAC - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:46900582_46900588delTGTAGAC ENST00000378623.1 - 22 3248_3254 c.3004_splice c.e22-1 p.VST1002_splice NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1002 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) TAGCACATGGTGTAGACACTGGGTAGA 0.594 62 455 --- --- --- --- SMTNL1 219537 broad.mit.edu 37 11 57308986 57308987 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:57308986_57308987insG ENST00000457912.1 + 1 8_9 c.8_9insG c.(7-9)cggfs p.R3fs E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 0 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 CCCATGCTCCCGGGGGCAGTTG 0.525 10 1109 --- --- --- --- STIP1 10963 broad.mit.edu 37 11 63965370 63965370 + Frame_Shift_Del DEL A A - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:63965370delA ENST00000358794.5 + 8 1641 c.1088delA c.(1087-1089)tcfs p.Y363fs STIP1_ENST00000538945.1_Frame_Shift_Del_p.Y292fs|STIP1_ENST00000305218.4_Frame_Shift_Del_p.Y316fs P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 316 axon guidance|response to stress Golgi apparatus|nucleus endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1) 27 GAAGAAAAGTACAAGGATGCC 0.453 82 324 --- --- --- --- RPS6KA4 8986 broad.mit.edu 37 11 64129350 64129351 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:64129350_64129351insC ENST00000528057.1 + 8 870_871 c.782_783insC c.(781-783)tccfs p.S261fs RPS6KA4_ENST00000334205.4_Frame_Shift_Ins_p.S261fs|RPS6KA4_ENST00000294261.4_Frame_Shift_Ins_p.S261fs NM_001006944.1 NP_001006945.1 O75676 KS6A4_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 4 261 Protein kinase 1. axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1) 13 TCCCCTCCCTTCCCCCCTCGGA 0.693 8 360 --- --- --- --- ACTN3 89 broad.mit.edu 37 11 66321993 66321994 + RNA INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:66321993_66321994insC ENST00000513398.1 + 0 566 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 TCCTCCCACCTCCCCCCGACCC 0.530 14 608 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89403730 89403731 + RNA INS - - AAAC TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:89403730_89403731insAAAC ENST00000532352.1 + 0 994 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 aaagtgaaTCAaaacaaacaaa 0.347 7 30 --- --- --- --- LEPREL2 10536 broad.mit.edu 37 12 6946203 6946204 + RNA INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:6946203_6946204insC ENST00000251761.8 + 0 1546_1547 LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000606935.1_RNA NM_014262.3 NP_055077.2 leprecan-like 2 breast(1)|cervix(1)|endometrium(2)|lung(6) 10 CTCCCCTCACACCCCCCATGAA 0.644 7 263 --- --- --- --- ART4 420 broad.mit.edu 37 12 14993710 14993711 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:14993710_14993711insC ENST00000228936.4 - 2 902_903 c.521_522insG c.(520-522)aatfs p.N174fs C12orf60_ENST00000527783.1_Intron NM_021071.2 NP_066549.2 Q93070 NAR4_HUMAN ADP-ribosyltransferase 4 174 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3) 15 TCTCCATGATGCTGTCTTTCCT 0.480 7 457 --- --- --- --- SLCO1C1 53919 broad.mit.edu 37 12 20885883 20885884 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:20885883_20885884insG ENST00000381552.1 + 10 1595_1596 c.1227_1228insG c.(1225-1230)tcggggfs p.SG409fs SLCO1C1_ENST00000540354.1_Frame_Shift_Ins_p.SG360fs|SLCO1C1_ENST00000545102.1_Frame_Shift_Ins_p.SG291fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Ins_p.SG409fs|SLCO1C1_ENST00000266509.2_Frame_Shift_Ins_p.SG409fs Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 409 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) GAATATTCTCTGGGGGGATAGT 0.381 7 445 --- --- --- --- SPRYD3 84926 broad.mit.edu 37 12 53468917 53468917 + Frame_Shift_Del DEL C C - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:53468917delC ENST00000301463.4 - 4 419 c.333delG c.(331-333)tgfs p.W111fs SPRYD3_ENST00000547837.1_Frame_Shift_Del_p.W148fs NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 111 B30.2/SPRY. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 AGTCAGGCAACCAGCCAGGCT 0.532 18 161 --- --- --- --- ITGA5 3678 broad.mit.edu 37 12 54801454 54801454 + Frame_Shift_Del DEL T T - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:54801454delT ENST00000293379.4 - 9 1146 c.885delA c.(883-885)aafs p.K295fs RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 295 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 TGAGGTTCCCTTTGGGCACAC 0.522 11 167 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56575340 56575341 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:56575340_56575341insC ENST00000394023.3 - 10 986_987 c.881_882insG c.(880-882)gaafs p.E294fs SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.E294fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.E294fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.E294fs NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 294 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TCTTATAGTTTCCCCCCTTCTT 0.515 13 648 --- --- --- --- GLS2 27165 broad.mit.edu 37 12 56867067 56867067 + Frame_Shift_Del DEL T T - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:56867067delT ENST00000311966.4 - 14 1672 c.1394delA c.(1393-1395)acfs p.N465fs NM_013267.2 NP_037399.2 Q9UI32 GLSL_HUMAN glutaminase 2 (liver, mitochondrial) 465 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 13 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTGCCTCAGGTTGTCATAGTT 0.423 19 384 --- --- --- --- NAB2 4665 broad.mit.edu 37 12 57485596 57485597 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:57485596_57485597insG ENST00000300131.3 + 2 1150_1151 c.772_773insG c.(772-774)gggfs p.G258fs NAB2_ENST00000342556.6_Frame_Shift_Ins_p.G258fs|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Frame_Shift_Ins_p.G258fs NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 258 PR -> Q (in Ref. 6 and 7). cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 GAGCTTCCCAAGGGGGGATGCT 0.574 8 588 --- --- --- --- RFX4 5992 broad.mit.edu 37 12 107126021 107126022 + Frame_Shift_Del DEL AG AG - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:107126021_107126022delAG ENST00000392842.1 + 14 1879_1880 c.1465_1466delAG c.(1465-1467)cfs p.S489fs RFX4_ENST00000229387.5_Frame_Shift_Del_p.S395fs|RFX4_ENST00000357881.4_Frame_Shift_Del_p.S498fs|RP11-144F15.1_ENST00000551505.1_Intron|RP11-482D24.3_ENST00000552415.1_RNA NM_213594.2 NP_998759.1 Q33E94 RFX4_HUMAN regulatory factor X, 4 (influences HLA class II expression) 489 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 GGGAGAAGGAAGCACTGGTAAG 0.431 40 453 --- --- --- --- LRRC43 254050 broad.mit.edu 37 12 122670832 122670833 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:122670832_122670833insC ENST00000339777.4 + 3 535_536 c.507_508insC c.(505-510)ctccccfs p.LP169fs LRRC43_ENST00000425921.1_5'UTR NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 169 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) CCACCAATCTGCCCCCCACACT 0.569 7 132 --- --- --- --- CCDC62 84660 broad.mit.edu 37 12 123276590 123276591 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr12:123276590_123276591insA ENST00000253079.6 + 6 1038_1039 c.694_695insA c.(694-696)aaafs p.K232fs CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000392441.4_Frame_Shift_Ins_p.K232fs|CCDC62_ENST00000537566.1_Intron NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 232 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) AAAGACGACAGAAAATAATGAG 0.381 9 998 --- --- --- --- LINC00457 100874179 broad.mit.edu 37 13 35129895 35129896 + RNA INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr13:35129895_35129896insA ENST00000605909.1 + 0 170 RP11-266E6.3_ENST00000606365.1_lincRNA ggctgtgatactcgccctaaaa 0.470 8 4 --- --- --- --- HECTD1 25831 broad.mit.edu 37 14 31590706 31590706 + Frame_Shift_Del DEL C C - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:31590706delC ENST00000399332.1 - 28 5609 c.5121delG c.(5119-5121)ctfs p.L1707fs HECTD1_ENST00000553700.1_Frame_Shift_Del_p.L1707fs NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1707 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) ATGGGCGTCTCAGAATCTAAA 0.478 26 323 --- --- --- --- CDKL1 8814 broad.mit.edu 37 14 50862468 50862468 + Frame_Shift_Del DEL T T - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:50862468delT ENST00000216378.2 - 2 766 c.122delA c.(121-123)gtfs p.D42fs CDKL1_ENST00000395834.1_Frame_Shift_Del_p.D42fs|CDKL1_ENST00000356146.1_5'UTR Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 (CDC2-related kinase) 41 Protein kinase. cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1) 12 all_epithelial(31;0.000746)|Breast(41;0.0102) GACAGGGTCATCTTCTGATTC 0.403 44 127 --- --- --- --- DPF3 8110 broad.mit.edu 37 14 73159843 73159844 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:73159843_73159844insC ENST00000541685.1 - 7 694_695 c.682_683insG c.(682-684)tgafs p.*228fs DPF3_ENST00000546183.1_Frame_Shift_Ins_p.*238fs|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000556509.1_Frame_Shift_Ins_p.*228fs NM_012074.3 NP_036206.3 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 228 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1) 22 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) TTGAGCTTCATCCCCCTCCTCG 0.554 7 2139 --- --- --- --- ZC3H14 79882 broad.mit.edu 37 14 89069237 89069238 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:89069237_89069238insC ENST00000251038.5 + 12 1805_1806 c.1580_1581insC c.(1579-1581)accfs p.T527fs ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000393514.5_Frame_Shift_Ins_p.T502fs|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000555755.1_Frame_Shift_Ins_p.T527fs|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000555900.1_Frame_Shift_Ins_p.T229fs NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 527 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 GGTGTCCCCAGCCCCCCAGGAT 0.470 18 756 --- --- --- --- AHNAK2 113146 broad.mit.edu 37 14 105416915 105416927 + Frame_Shift_Del DEL CCATGCTGGACAG CCATGCTGGACAG - rs71421895 by1000genomes TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:105416915_105416927delCCATGCTGGACAG ENST00000333244.5 - 7 4980_4992 c.4861_4873delCTGTCCAGCATGG c.(4861-4875)agfs p.LSSME1621fs AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1621 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACGTCCACCTCCATGCTGGACAGAGACATCTTC 0.606 8 85 --- --- --- --- AHNAK2 113146 broad.mit.edu 37 14 105417410 105417422 + Frame_Shift_Del DEL CCACGCTGGGCAG CCACGCTGGGCAG - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr14:105417410_105417422delCCACGCTGGGCAG ENST00000333244.5 - 7 4485_4497 c.4366_4378delCTGCCCAGCGTGG c.(4366-4380)agfs p.LPSVE1456fs AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1456 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ACATCCACCTCCACGCTGGGCAGAGAAACCTCC 0.577 13 59 --- --- --- --- GANC 2595 broad.mit.edu 37 15 42614143 42614144 + Frame_Shift_Ins INS - - GA TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:42614143_42614144insGA ENST00000318010.8 + 11 1458_1459 c.1218_1219insGA c.(1216-1221)agacttfs p.L407fs NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 407 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) AGGGCAAGAGGTACTTCACCTG 0.465 20 147 --- --- --- --- VPS13C 54832 broad.mit.edu 37 15 62254983 62254984 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:62254983_62254984insA ENST00000261517.5 - 33 3472_3473 c.3399_3400insT c.(3397-3402)attcacfs p.H1134fs VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.H1091fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.H1134fs|VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.H1091fs NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1134 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ACATCTGTGACAATAATATTTT 0.322 8 38 --- --- --- --- TLN2 83660 broad.mit.edu 37 15 63131164 63131165 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:63131164_63131165insG ENST00000561311.1 + 57 7714_7715 c.7484_7485insG c.(7483-7485)gggfs p.G2495fs TLN2_ENST00000306829.6_Frame_Shift_Ins_p.G2495fs|RP11-1069G10.1_ENST00000558404.1_RNA Q9Y4G6 TLN2_HUMAN talin 2 2495 I/LWEQ. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 ACCAAGTTTGTGGGGGGCATTG 0.426 7 141 --- --- --- --- ADCY9 115 broad.mit.edu 37 16 4016046 4016047 + Frame_Shift_Del DEL GA GA - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:4016046_4016047delGA ENST00000294016.3 - 11 4329_4330 c.3791_3792delTC c.(3790-3792)gfs p.V1264fs NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 1264 QHQLSISPDIRVQVDGSIGRSPTDEIANLVPSVQYVDKTSL GSDSSTQAKDAHLSPKRPWKEPVKAEERGRFGKAIEKDDCD ETGIEEANELTKLNVSKSV -> APAVHLPRHPRPGGWQHR TVSHRRDCQPGAFCPVCGQDISGF (in Ref. 1; AAC24201). 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 plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CATCCACCTGGACGCGGATGTC 0.569 8 99 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5550143 5550144 + RNA INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:5550143_5550144insT ENST00000569895.1 + 0 343 ccctccttccctccttcccttc 0.584 2 4 --- --- --- --- CTD-2014E2.5 0 broad.mit.edu 37 16 31576130 31576131 + RNA DEL TC TC - rs143339797 TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:31576130_31576131delTC ENST00000565692.1 - 0 343 TGAAAGGTGATCTCTCTCTCTC 0.515 6 6 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991948 72991949 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr16:72991948_72991949insC ENST00000268489.5 - 2 2768_2769 c.2096_2097insG c.(2095-2097)gtcfs p.V699fs ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 699 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G699fs*125(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGACACAGGAGCCCCCCGGCTC 0.594 8 609 --- --- --- --- CXCL16 58191 broad.mit.edu 37 17 4638739 4638740 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:4638739_4638740insG ENST00000293778.6 - 4 844_845 c.422_423insC c.(421-423)catfs p.H141fs CXCL16_ENST00000574412.1_Frame_Shift_Ins_p.H141fs|CXCL16_ENST00000576153.1_5'UTR NM_022059.2 NP_071342.2 Q9H2A7 CXL16_HUMAN chemokine (C-X-C motif) ligand 16 122 lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor extracellular space|integral to membrane|plasma membrane chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 CCTGAGAAATTGGGGGGCTGGT 0.550 8 590 --- --- --- --- FAM83G 644815 broad.mit.edu 37 17 18881020 18881021 + Frame_Shift_Ins INS - - TC TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:18881020_18881021insTC ENST00000388995.6 - 5 2181_2182 c.1958_1959insGA c.(1957-1959)catfs p.H653fs SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Frame_Shift_Ins_p.H653fs|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Frame_Shift_Ins_p.H653fs A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 653 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 CTCGGGTTATATGGGGGGCACT 0.644 7 5 --- --- --- --- CACNA1G 8913 broad.mit.edu 37 17 48683537 48683539 + In_Frame_Del DEL AAA AAA - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:48683537_48683539delAAA ENST00000416767.4 + 23 4603_4605 c.4575_4577delAAA c.(4573-4578)gcg>gc p.AK1525del CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000359106.5_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000503485.1_Intron O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 0 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) AGCATGTCGCAAAGCCCAGTCCA 0.571 16 33 --- --- --- --- CSHL1 1444 broad.mit.edu 37 17 61987865 61987866 + Frame_Shift_Ins INS - - CCCA TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:61987865_61987866insCCCA ENST00000392824.4 - 2 490_491 c.429_430insTGGG c.(427-432)atattcfs p.F144fs CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000309894.5_Frame_Shift_Ins_p.I74fs|CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000450719.3_5'UTR|CSHL1_ENST00000558099.1_5'UTR Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 ATGCAGGAATGAATACTTCTGT 0.505 145 157 --- --- --- --- UBE2O 63893 broad.mit.edu 37 17 74394437 74394440 + Frame_Shift_Del DEL CACT CACT - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:74394437_74394440delCACT ENST00000319380.7 - 12 1985_1988 c.1921_1924delAGTG c.(1921-1926)ttfs p.SV641fs UBE2O_ENST00000587581.1_5'UTR NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 641 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 ATGTCGTAAACACTCACATCTTCC 0.534 OREG0024751 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 290 --- --- --- --- NARF 26502 broad.mit.edu 37 17 80442736 80442738 + In_Frame_Del DEL GCT GCT - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:80442736_80442738delGCT ENST00000390006.4 + 9 1178_1180 c.704_706delGCT c.(703-708)aca>a p.SS235del NARF_ENST00000309794.10_In_Frame_Del_p.SS294del|NARF_ENST00000457415.3_In_Frame_Del_p.SS340del|NARF_ENST00000345415.7_In_Frame_Del_p.SS246del NM_001038618.2 NP_001033707.1 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor 294 lamin filament lamin binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GATGGAGCCAGCTCAGACGGGCA 0.537 2215 155 --- --- --- --- ZNF397 84307 broad.mit.edu 37 18 32823300 32823301 + Frame_Shift_Ins INS - - AG TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr18:32823300_32823301insAG ENST00000585800.1 + 3 1313_1314 c.599_600insAG c.(598-600)cctfs p.P200fs ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000330501.7_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000591206.1_Frame_Shift_Ins_p.P200fs|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000589420.1_Intron Q8NF99 ZN397_HUMAN zinc finger protein 397 0 viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 12 ACACTTAGGCCTCTGTTTTTGA 0.436 14 100 --- --- --- --- EPG5 57724 broad.mit.edu 37 18 43460063 43460064 + Frame_Shift_Del DEL CA CA - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr18:43460063_43460064delCA ENST00000282041.5 - 32 5677_5678 c.5643_5644delTG c.(5641-5646)tcatfs p.SD1881fs EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1881 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 AAGAGAGCATCAGAAGAGCTGG 0.554 OREG0024951 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 77 --- --- --- --- ZNF554 115196 broad.mit.edu 37 19 2834106 2834107 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:2834106_2834107insG ENST00000317243.5 + 5 1071_1072 c.873_874insG c.(871-876)caggggfs p.QG291fs ZNF554_ENST00000591265.1_3'UTR NM_001102651.1 NP_001096121.1 Q86TJ5 ZN554_HUMAN zinc finger protein 554 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 23 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) TTATTCAACACGGGGGGAAGAT 0.455 8 307 --- --- --- --- AKAP8 10270 broad.mit.edu 37 19 15484753 15484754 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:15484753_15484754insC ENST00000269701.2 - 4 274_275 c.214_215insG c.(214-216)cccfs p.P72fs NM_005858.3 NP_005849.1 O43823 AKAP8_HUMAN A kinase (PRKA) anchor protein 8 72 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 CATGGCAGGGGCCCCGGCCGCC 0.634 9 159 --- --- --- --- ARHGAP33 115703 broad.mit.edu 37 19 36268609 36268610 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:36268609_36268610insG ENST00000007510.4 + 2 213_214 c.69_70insG c.(67-72)gcggggfs p.AG23fs ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Frame_Shift_Ins_p.AG23fs|ARHGAP33_ENST00000378944.5_Intron O14559 RHG33_HUMAN Rho GTPase activating protein 33 23 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 TACCCACTGCTGGGGGGCCCAG 0.639 8 429 --- --- --- --- ZNF780B 163131 broad.mit.edu 37 19 40540780 40540781 + Frame_Shift_Ins INS - - AT TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:40540780_40540781insAT ENST00000434248.1 - 5 2050_2051 c.1985_1986insAT c.(1984-1986)acafs p.T662fs ZNF780B_ENST00000221355.6_Frame_Shift_Ins_p.T514fs NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 662 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CACCAGCATGAATACTCTGATG 0.386 10 512 --- --- --- --- SHKBP1 92799 broad.mit.edu 37 19 41086321 41086322 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:41086321_41086322insC ENST00000291842.5 + 7 541_542 c.492_493insC c.(490-495)atccccfs p.IP164fs SHKBP1_ENST00000600733.1_Frame_Shift_Ins_p.IP164fs NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 164 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCAACACGATGCCCCCCAACCT 0.619 7 258 --- --- --- --- ZNF432 9668 broad.mit.edu 37 19 52538164 52538165 + Frame_Shift_Ins INS - - ACAA TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:52538164_52538165insACAA ENST00000594154.1 - 5 979_980 c.767_768insTTGT c.(766-768)aagfs p.K256fs ZNF432_ENST00000221315.5_Frame_Shift_Ins_p.K256fs O94892 ZN432_HUMAN zinc finger protein 432 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) ATTTCTCTCTTTTATGAATTCT 0.381 18 140 --- --- --- --- ZNF600 162966 broad.mit.edu 37 19 53270328 53270329 + Frame_Shift_Ins INS - - T TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr19:53270328_53270329insT ENST00000338230.3 - 3 947_948 c.680_681insA c.(679-681)tagfs p.*227fs NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) ATACCTGACTGAAGGACTTTCC 0.421 8 683 --- --- --- --- PDYN 5173 broad.mit.edu 37 20 1963714 1963715 + In_Frame_Ins INS - - AAC TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:1963714_1963715insAAC ENST00000217305.2 - 3 241_242 c.16_17insGTT c.(16-18)ggt>GTTggt p.5_6insV RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_In_Frame_Ins_p.5_6insV|PDYN_ENST00000539905.1_In_Frame_Ins_p.5_6insV NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 5 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGCCAGGACCAGCCCCTGCCAG 0.564 194 104 --- --- --- --- JAG1 182 broad.mit.edu 37 20 10620352 10620353 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:10620352_10620353insC ENST00000254958.5 - 26 3965_3966 c.3450_3451insG c.(3448-3453)agcacafs p.ST1150fs JAG1_ENST00000423891.2_Frame_Shift_Ins_p.ST991fs NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 1150 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 GAATTGTGTGTCCTTATTTTAG 0.475 Alagille Syndrome 8 97 --- --- --- --- ARFGEF2 10564 broad.mit.edu 37 20 47587789 47587790 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr20:47587789_47587790insA ENST00000371917.4 + 10 1323_1324 c.1323_1324insA c.(1321-1326)tcaaaafs p.SK441fs NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 441 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TGGCCTTGTCCAAAAACGGCGT 0.436 8 1538 --- --- --- --- ETS2 2114 broad.mit.edu 37 21 40184981 40184981 + Frame_Shift_Del DEL C C - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr21:40184981delC ENST00000360214.3 + 4 587 c.127delC c.(127-129)tafs p.L43fs ETS2_ENST00000360938.3_Frame_Shift_Del_p.L43fs NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 43 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) TTTTCCTTCTCTAAATGAAGA 0.403 9 509 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23974047 23974048 + In_Frame_Ins INS - - CAG TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr22:23974047_23974048insCAG ENST00000317749.5 - 1 460_461 c.163_164insCTG c.(163-165)ggg>CTGggg p.54_55insL C22orf43_ENST00000460169.1_5'UTR NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 54 endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 GTCTTGGCCCTCCGTGGCTCCC 0.540 10 208 --- --- --- --- CRYBA4 1413 broad.mit.edu 37 22 27021497 27021498 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr22:27021497_27021498insA ENST00000354760.3 + 4 246_247 c.211_212insA c.(211-213)aggfs p.R71fs CRYBA4_ENST00000466315.1_3'UTR NM_001886.2 NP_001877.1 P53673 CRBA4_HUMAN crystallin, beta A4 71 Beta/gamma crystallin 'Greek key' 2. camera-type eye development|visual perception soluble fraction structural constituent of eye lens p.R71*(1) large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 CATTCTGGAACGAGGCGAATAT 0.624 139 343 --- --- --- --- SLC35E4 339665 broad.mit.edu 37 22 31032723 31032724 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr22:31032723_31032724insG ENST00000343605.4 + 1 1085_1086 c.286_287insG c.(286-288)gggfs p.G96fs SLC35E4_ENST00000406566.1_Frame_Shift_Ins_p.G96fs|SLC35E4_ENST00000300385.8_Frame_Shift_Ins_p.G96fs NM_001001479.2 NP_001001479.1 Q6ICL7 S35E4_HUMAN solute carrier family 35, member E4 96 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1) 10 GGCATGCCACCGGGGGGCACGG 0.663 9 279 --- --- --- --- PKDREJ 10343 broad.mit.edu 37 22 46655571 46655572 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr22:46655571_46655572insC ENST00000253255.5 - 1 3647_3648 c.3648_3649insG c.(3646-3651)ggatgtfs p.C1217fs NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1217 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ACTATCACATGCCCCCGAAGAT 0.450 8 1711 --- --- --- --- ARSF 416 broad.mit.edu 37 X 3007554 3007555 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:3007554_3007555insC ENST00000381127.1 + 7 1069_1070 c.848_849insC c.(847-849)tctfs p.S283fs ARSF_ENST00000359361.2_Frame_Shift_Ins_p.S283fs|ARSF_ENST00000537104.1_Frame_Shift_Ins_p.S283fs NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 283 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AAGGAAACTTTCCTTCTCTTTT 0.426 80 1551 --- --- --- --- USP11 8237 broad.mit.edu 37 X 47099225 47099227 + In_Frame_Del DEL TAC TAC - TCGA-A3-3374-01A-01W-0886-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx 73ed0e48-a9fb-4d0c-8f0d-8e39d0753512 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chrX:47099225_47099227delTAC ENST00000377107.2 + 4 808_810 c.454_456delTAC c.(454-456)del p.Y152del USP11_ENST00000218348.3_In_Frame_Del_p.Y195del P51784 UBP11_HUMAN ubiquitin specific peptidase 11 195 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 GGTCGAAGTGTACCCAGTAGAAC 0.502 16 420 --- --- --- --- SRGAP2-AS1 100873165 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 7 69 --- --- --- --- MST1 4485 broad.mit.edu 37 3 49725275 49725279 + Frame_Shift_Del DEL GTGCT GTGCT - TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:49725275_49725279delGTGCT ENST00000449682.2 - 2 507_511 c.146_150delAGCAC c.(145-150)cfs p.QH49fs MST1_ENST00000383728.3_Intron|MST1_ENST00000545762.1_Frame_Shift_Del_p.QH35fs|MST1_ENST00000494828.2_Intron NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 35 PAN. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CATGTAGCAGGTGCTGTAGCTCTGT 0.610 8 93 --- --- --- --- POLQ 10721 broad.mit.edu 37 3 121238716 121238723 + Splice_Site DEL ACCTACTG ACCTACTG - TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:121238716_121238723delACCTACTG ENST00000264233.5 - 9 1591_1597 c.1468_splice c.e9+1 p.488_splice NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 488 Helicase C-terminal. DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) AAACTCACTTACCTACTGTGTCCACTCC 0.428 DNA polymerases (catalytic subunits) 21 499 --- --- --- --- LINC00969 440993 broad.mit.edu 37 3 195400918 195400919 + RNA INS - - T rs55992531 by1000genomes TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:195400918_195400919insT ENST00000445430.1 + 0 1454 AGTCttttttctttttttttga 0.525 8 40 --- --- --- --- SDHAP1 255812 broad.mit.edu 37 3 195713385 195713386 + RNA INS - - T TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr3:195713385_195713386insT ENST00000427841.1 - 0 176 NR_003264.2 AAAGCATGAACTTACGGAATCT 0.401 12 30 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56336954 56336954 + Frame_Shift_Del DEL A A - TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr4:56336954delA ENST00000309964.4 - 7 618 c.368delT c.(367-369)tafs p.L123fs CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 123 PAS 1. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity p.L123fs*1(2) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) CATGATTGCTAAAAAAAAACC 0.289 8 363 --- --- --- --- FLT4 2324 broad.mit.edu 37 5 180058747 180058748 + Frame_Shift_Ins INS - - G TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr5:180058747_180058748insG ENST00000261937.6 - 2 167_168 c.89_90insC c.(88-90)cacfs p.H30fs FLT4_ENST00000502649.1_Frame_Shift_Ins_p.H30fs|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Frame_Shift_Ins_p.H30fs NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 30 Ig-like C2-type 1. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity p.P30fs*3(2) 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) TGTTCAAGGTCGGGGGGGTCAT 0.634 8 91 --- --- --- --- HLA-V 352962 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 2 4 --- --- --- --- PNPLA8 50640 broad.mit.edu 37 7 108155503 108155504 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr7:108155503_108155504insC ENST00000426128.2 - 2 557_558 c.432_433insG c.(430-435)tgtaaafs p.CK144fs PNPLA8_ENST00000388728.5_Frame_Shift_Ins_p.CK144fs|PNPLA8_ENST00000436062.1_Frame_Shift_Ins_p.CK144fs|PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000453144.1_Frame_Shift_Ins_p.CK44fs|PNPLA8_ENST00000257694.8_Frame_Shift_Ins_p.CK144fs|PNPLA8_ENST00000422087.1_Frame_Shift_Ins_p.CK144fs NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 144 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 TTCTGTTTTAACCAGCCACTAT 0.327 8 224 --- --- --- --- TFAM 7019 broad.mit.edu 37 10 60148570 60148570 + Frame_Shift_Del DEL A A - rs78912196 TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:60148570delA ENST00000487519.1 + 4 958 c.432delA c.(430-432)acfs p.T144fs TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs NM_003201.1 NP_003192.1 Q00059 TFAM_HUMAN transcription factor A, mitochondrial 144 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|prostate(1) 7 AAGCTATGACAAAAAAAAAAG 0.269 7 135 --- --- --- --- RP11-34D15.2 0 broad.mit.edu 37 10 102104588 102104589 + RNA INS - - A rs143779882 by1000genomes TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr10:102104588_102104589insA ENST00000429420.1 - 0 103 AACAAAATAATAAAAAATCACA 0.386 6 6 --- --- --- --- TSSC2 650368 broad.mit.edu 37 11 3424761 3424761 + RNA DEL A A - TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:3424761delA ENST00000529482.1 + 0 845 gtctgtcaggaaaaaaaaaaa 0.413 9 36 --- --- --- --- UBQLN3 50613 broad.mit.edu 37 11 5529918 5529920 + In_Frame_Del DEL TGG TGG - rs2234451 byFrequency TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:5529918_5529920delTGG ENST00000311659.4 - 2 1016_1018 c.869_871delCCA c.(868-873)agc>a p.TS290del HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 290 T -> S (in dbSNP:rs2234451). NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAGGTTGGCTGGTGGTGGTGGT 0.537 7 350 --- --- --- --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA CTCCTA - rs3812754 byFrequency TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr11:12316384_12316389delCTCCTA ENST00000256186.2 + 3 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cca>c p.PPT469del NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 469 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 7 24 --- --- --- --- VPS13C 54832 broad.mit.edu 37 15 62254983 62254984 + Frame_Shift_Ins INS - - A TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:62254983_62254984insA ENST00000261517.5 - 33 3472_3473 c.3399_3400insT c.(3397-3402)attcacfs p.H1134fs VPS13C_ENST00000249837.3_Frame_Shift_Ins_p.H1091fs|VPS13C_ENST00000395898.3_Frame_Shift_Ins_p.H1091fs|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.H1134fs NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 1134 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ACATCTGTGACAATAATATTTT 0.322 30 150 --- --- --- --- FES 2242 broad.mit.edu 37 15 91436556 91436557 + Frame_Shift_Ins INS - - C TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr15:91436556_91436557insC ENST00000328850.3 + 16 2099_2100 c.1957_1958insC c.(1957-1959)ccgfs p.P653fs FES_ENST00000394300.3_Frame_Shift_Ins_p.P595fs|FES_ENST00000394302.1_Frame_Shift_Ins_p.P512fs|FES_ENST00000450438.2_Frame_Shift_Ins_p.P525fs|FES_ENST00000444422.2_Frame_Shift_Ins_p.P583fs|FES_ENST00000414248.2_Frame_Shift_Ins_p.P525fs NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 653 Protein kinase. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CACGGAGGGGGCCCGCCTGCGG 0.673 10 57 --- --- --- --- CCDC144B 284047 broad.mit.edu 37 17 18498497 18498498 + RNA INS - - A rs72195768 TCGA-A3-3374-01A-01D-0966-08 TCGA-A3-3374-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx e7dd73a6-693a-41e7-bbe7-fcf3d752ddb3 5ce74ef1-1c9a-4ede-a0d3-1c1f6b2c6856 g.chr17:18498497_18498498insA ENST00000442583.1 - 0 749 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTGCAGGCCTGAAAAAAAAAAA 0.243 4 4 --- --- --- ---