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 PIGH 5283 broad.mit.edu 37 14 68059435 68059435 + Splice_Site SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:68059435G>A ENST00000216452.4 - 3 474 c.390_splice c.e3-1 p.Q131_splice PIGH_ENST00000559581.1_Splice_Site_p.Q92_splice|PIGH_ENST00000560722.1_Intron NM_004569.3 NP_004560.1 Q14442 PIGH_HUMAN phosphatidylinositol glycan anchor biosynthesis, class H 131 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|mitochondrion|nucleolus phosphatidylinositol N-acetylglucosaminyltransferase activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 all cancers(60;0.000592)|OV - Ovarian serous cystadenocarcinoma(108;0.00395)|BRCA - Breast invasive adenocarcinoma(234;0.00933) ATCACCTTCTGCTGTAAGAAA 0.348000 19 27 0 0 7.07596e-05 0 0 MYH8 4626 broad.mit.edu 37 17 10297626 10297626 + Silent SNP C C T rs140525529 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr17:10297626C>T ENST00000403437.2 - 35 5200 c.5106G>A c.(5104-5106)agG>agA p.R1702R CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1702 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle p.R1702R(1) NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CGGCGATTTTCCTGCTTCTCT 0.567000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 18 43 0 0 0.000375601 0 0 NDST3 9348 broad.mit.edu 37 4 119145709 119145709 + Missense_Mutation SNP G G C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:119145709G>C ENST00000296499.5 + 7 2006 c.1603G>C c.(1603-1605)Gtt>Ctt p.V535L NDST3_ENST00000433996.2_Missense_Mutation_p.V454L NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 535 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 ATATACATTTGTTAATCTGGC 0.413000 11 55 0 0 3.86212e-05 0 0 RGS12 6002 broad.mit.edu 37 4 3427272 3427272 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:3427272C>T ENST00000336727.3 + 14 4220 c.3316C>T c.(3316-3318)Cct>Tct p.P1106S RGS12_ENST00000538395.1_Missense_Mutation_p.P448S|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000344733.5_Missense_Mutation_p.P1106S|RGS12_ENST00000338806.4_Missense_Mutation_p.P458S|RGS12_ENST00000306648.7_Missense_Mutation_p.P504S|RGS12_ENST00000382788.3_Missense_Mutation_p.P1106S NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1106 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGAGAAGGATCCTTCCAGAGG 0.632000 27 29 0 0 0.000147802 0 0 MIR410 574434 broad.mit.edu 37 14 101532269 101532269 + RNA SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:101532269C>T ENST00000362222.2 + 0 21 NR_030156.1 AAGAGGTTGTCTGTGATGAGT 0.607000 11 19 0 0 6.40141e-05 0 0 ABCA12 26154 broad.mit.edu 37 2 215914452 215914452 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:215914452G>A ENST00000272895.7 - 6 810 c.591C>T c.(589-591)ttC>ttT p.F197F NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 197 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AGGTCCAAGAGAAGGCATCAT 0.363000 23 22 0 0 0.00047179 0 0 SMARCD3 6604 broad.mit.edu 37 7 150939873 150939873 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:150939873C>T ENST00000392811.2 - 5 825 c.351G>A c.(349-351)agG>agA p.R117R SMARCD3_ENST00000262188.8_Silent_p.R130R|SMARCD3_ENST00000356800.2_Silent_p.R117R|SMARCD3_ENST00000477169.1_5'UTR NM_003078.3 NP_003069.2 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 130 cellular lipid metabolic process|chromatin modification|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 nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2) 15 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GATCCAGTTTCCTCTCAAATG 0.577000 31 63 0 0 0.000279167 0 0 ZZEF1 23140 broad.mit.edu 37 17 4020305 4020305 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr17:4020305G>A ENST00000381638.2 - 3 779 c.655C>T c.(655-657)Ctg>Ttg p.L219L ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 219 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GACTCCTTCAGGACGGAAGAC 0.517000 48 114 0 0 0.000147903 0 0 PSD2 84249 broad.mit.edu 37 5 139217314 139217314 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:139217314C>T ENST00000274710.3 + 12 1975 c.1770C>T c.(1768-1770)tcC>tcT p.S590S NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 590 PH. regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAAGAAGTCCAACGTGCTGA 0.592000 15 15 0 0 0.000308642 0 0 CNTN5 53942 broad.mit.edu 37 11 100211269 100211269 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:100211269C>T ENST00000524871.1 + 22 3095 c.2805C>T c.(2803-2805)gtC>gtT p.V935V CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Silent_p.V935V|CNTN5_ENST00000418526.2_Silent_p.V861V|CNTN5_ENST00000528682.1_Silent_p.V935V NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 935 Fibronectin type-III 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGTCTTTCGTCATCCTAACAG 0.433000 10 5 0 0 3.86212e-05 0 0 LILRB4 11006 broad.mit.edu 37 19 55177365 55177365 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:55177365G>A ENST00000391736.1 + 9 1172 c.857G>A c.(856-858)gGa>gAa p.G286E LILRB4_ENST00000391733.3_Missense_Mutation_p.G286E|LILRB4_ENST00000391734.3_Missense_Mutation_p.G286E|LILRB4_ENST00000430952.2_Missense_Mutation_p.G286E|LILRB4_ENST00000270452.2_Missense_Mutation_p.G286E 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 4 286 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) TGGCGTCAGGGAAAACACAGG 0.587000 16 33 0 0 0.000422831 0 0 RNASEH2A 10535 broad.mit.edu 37 19 12921165 12921165 + Missense_Mutation SNP T T C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:12921165T>C ENST00000221486.4 + 6 678 c.584T>C c.(583-585)tTc>tCc p.F195S NM_006397.2 NP_006388.2 O75792 RNH2A_HUMAN ribonuclease H2, subunit A 195 DNA replication|RNA catabolic process nucleus|ribonuclease H2 complex metal ion binding|ribonuclease H activity|RNA binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 14 AAATGGCAGTTCGTGGAGAAA 0.552000 20 44 0 0 0.000375601 0 0 TTN 7273 broad.mit.edu 37 2 179598197 179598197 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:179598197C>T ENST00000589042.1 - 54 16047 c.15823G>A c.(15823-15825)Gga>Aga p.G5275R TTN_ENST00000342992.6_Missense_Mutation_p.G4031R|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G4958R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4958 Ig-like 33. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCGGGATCTCCTGCTGTCACC 0.483000 44 135 0 0 0.000147903 0 0 TMEM108 66000 broad.mit.edu 37 3 133099154 133099154 + Missense_Mutation SNP G G A rs140878635 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:133099154G>A ENST00000515826.1 + 3 722 c.599G>A c.(598-600)cGa>cAa p.R200Q TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000393130.3_Missense_Mutation_p.R200Q|TMEM108_ENST00000321871.6_Missense_Mutation_p.R200Q Q6UXF1 TM108_HUMAN transmembrane protein 108 200 integral to membrane p.R200Q(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CAGCGAGGACGAAATCCAAGC 0.592000 12 19 0 0 6.40141e-05 0 0 SLC25A27 9481 broad.mit.edu 37 6 46623672 46623672 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:46623672C>T ENST00000371347.5 + 2 451 c.199C>T c.(199-201)Ccc>Tcc p.P67S SLC25A27_ENST00000411689.2_Missense_Mutation_p.P67S|SLC25A27_ENST00000452689.2_5'UTR NM_001204051.1|NM_004277.4 NP_001190980.1|NP_004268.3 O95847 UCP4_HUMAN solute carrier family 25, member 27 67 generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1) 8 Lung(136;0.192) AGAATCTGCCCCCTATAGGGG 0.507000 112 71 0 0 0.000147903 0 0 SPAG6 9576 broad.mit.edu 37 10 22678203 22678203 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:22678203C>T ENST00000376603.2 + 7 1337 c.1195C>T c.(1195-1197)Cat>Tat p.H399Y RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.H298Y|SPAG6_ENST00000313311.6_Missense_Mutation_p.H323Y|SPAG6_ENST00000376624.3_Missense_Mutation_p.H323Y|SPAG6_ENST00000376601.1_Intron O75602 SPAG6_HUMAN sperm associated antigen 6 323 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 TGTAGCAGCTCATTCTGAGAA 0.463000 16 23 0 0 0.000566183 0 0 LIPH 200879 broad.mit.edu 37 3 185252757 185252757 + Silent SNP G G T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:185252757G>T ENST00000296252.4 - 2 354 c.213C>A c.(211-213)acC>acA p.T71T LIPH_ENST00000424591.2_Silent_p.T71T NM_139248.2 NP_640341.1 Q8WWY8 LIPH_HUMAN lipase, member H 71 lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2) 20 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) CAATGAAGGTGGTTTTCTTGG 0.463000 13 610 0.000422831 0.00633251 0.000422831 1 0 DNAH11 8701 broad.mit.edu 37 7 21721170 21721170 + Nonsense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:21721170C>T ENST00000328843.6 + 31 5381 c.5350C>T c.(5350-5352)Cag>Tag p.Q1784* DNAH11_ENST00000409508.3_Nonsense_Mutation_p.Q1779* Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1784 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 CTAGATTTCTCAGCTGAATAC 0.378000 Kartagener syndrome 8 28 0 0 0.000157383 0 0 AGFG2 3268 broad.mit.edu 37 7 100160517 100160517 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:100160517C>T ENST00000300176.4 + 9 1241 c.1119C>T c.(1117-1119)gcC>gcT p.A373A AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_3'UTR NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 373 Pro-rich. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CTCCCGCCGCCCAGTCCCCGC 0.582000 8 13 0 0 6.40141e-05 0 0 OR52R1 119695 broad.mit.edu 37 11 4824842 4824842 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:4824842G>A ENST00000380382.1 - 1 1005 c.1006C>T c.(1006-1008)Cca>Tca p.P336S MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.P257S Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, member 1 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3) 29 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) AAAAGGGCTGGGATATAAAGA 0.483000 26 47 0 0 9.22233e-05 0 0 FRG1B 284802 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 4 48 0 0 8.12818e-05 0 0 ARHGAP19-SLIT1 100533184 broad.mit.edu 37 10 99019293 99019293 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:99019293G>A ENST00000453547.2 - 5 705 c.706C>T c.(706-708)Cct>Tct p.P236S ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.P236S|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.P236S|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.P227S|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.P227S|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.P236S TTAGGAGGAGGGAGAATGAGG 0.423000 30 48 0 0 0.000184323 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T C rs11554290 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:115256529T>C ENST00000369535.4 - 3 435 c.182A>G c.(181-183)cAa>cGa p.Q61R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 62 43 0 0 0.000147903 0 0 ZNF284 342909 broad.mit.edu 37 19 44586179 44586179 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:44586179C>T ENST00000421176.3 + 4 372 c.156C>T c.(154-156)tcC>tcT p.S52S ZNF223_ENST00000591793.1_3'UTR NM_001037813.2 NP_001032902.1 Q2VY69 ZN284_HUMAN zinc finger protein 284 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0435) ATCAACTTTCCCACCGAGATA 0.403000 11 40 0 0 0.00010058 0 0 PLCG1 5335 broad.mit.edu 37 20 39794389 39794389 + Silent SNP C C T rs146548575 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr20:39794389C>T ENST00000373272.2 + 16 2127 c.1722C>T c.(1720-1722)atC>atT p.I574I PLCG1_ENST00000244007.3_Silent_p.I574I|PLCG1_ENST00000373271.1_Silent_p.I574I NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 574 SH2 1. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) AGTACTGCATCGAGACCGGAG 0.597000 18 28 0 0 0.000132079 0 0 XIST 7503 broad.mit.edu 37 X 73063804 73063804 + RNA SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:73063804G>A ENST00000429829.1 - 0 8784 NR_001564.2 GCCTTGGAGGGAAACAGTATA 0.383000 12 25 0 0 6.40141e-05 0 0 WNK3 65267 broad.mit.edu 37 X 54263451 54263451 + Silent SNP T T C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:54263451T>C ENST00000354646.2 - 20 4986 c.4548A>G c.(4546-4548)ccA>ccG p.P1516P WNK3_ENST00000375169.3_Silent_p.P1469P|WNK3_ENST00000375159.2_Silent_p.P1516P NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 1469 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 TTGGGGAAGATGGCGAATAGA 0.428000 68 139 0 0 0.000147903 0 0 ERC2 26059 broad.mit.edu 37 3 56053050 56053050 + Silent SNP A A G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:56053050A>G ENST00000288221.6 - 8 1906 c.1651T>C c.(1651-1653)Ttg>Ctg p.L551L NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 551 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TGTTCTTGCAAGTTTTCAATC 0.338000 5 14 0 0 0.000602214 0 0 TIAM2 26230 broad.mit.edu 37 6 155569309 155569309 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:155569309G>A ENST00000461783.3 + 22 5101 c.3828G>A c.(3826-3828)ctG>ctA p.L1276L TIAM2_ENST00000456144.1_Silent_p.L1276L|TIAM2_ENST00000456877.2_Silent_p.L588L|TIAM2_ENST00000529824.2_Silent_p.L1276L|TIAM2_ENST00000528391.2_Silent_p.L612L|TIAM2_ENST00000275246.7_Silent_p.L201L|TIAM2_ENST00000318981.5_Silent_p.L1276L|TIAM2_ENST00000360366.4_Silent_p.L1300L|TIAM2_ENST00000367174.2_Silent_p.L652L Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1276 DH. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) ACTACCACCTGACGGGTGAGG 0.692000 OREG0017745 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 19 0 0 9.22233e-05 0 0 ENPEP 2028 broad.mit.edu 37 4 111474533 111474533 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:111474533G>A ENST00000265162.5 + 18 2906 c.2564G>A c.(2563-2565)cGa>cAa p.R855Q NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 855 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding p.R855Q(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) ACAGTCATTCGATATATCTCA 0.393000 31 64 0 0 0.000279167 0 0 ZNF347 84671 broad.mit.edu 37 19 53645330 53645330 + Missense_Mutation SNP C C G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:53645330C>G ENST00000452676.2 - 5 1180 c.754G>C c.(754-756)Ggg>Cgg p.G252R ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.G252R|ZNF347_ENST00000334197.7_Missense_Mutation_p.G251R NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) GCTTTTTGCCCCTGTGTGAGT 0.373000 4 110 0 0 0.00024832 0 0 C1orf173 127254 broad.mit.edu 37 1 75039077 75039077 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:75039077C>T ENST00000326665.5 - 14 2535 c.2317G>A c.(2317-2319)Gaa>Aaa p.E773K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 773 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCCATTGCTTCTTTCTTCTCC 0.473000 41 39 0 0 0.000147903 0 0 TRAV10 28676 broad.mit.edu 37 14 22293674 22293674 + RNA SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:22293674G>A ENST00000390432.2 + 0 39 GAATAAAAATGAAAAAGCATC 0.353000 46 74 0 0 0.000147903 0 0 SCIN 85477 broad.mit.edu 37 7 12683911 12683911 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:12683911C>T ENST00000297029.5 + 12 1831 c.1730C>T c.(1729-1731)aCc>aTc p.T577I SCIN_ENST00000445618.2_Missense_Mutation_p.T330I|SCIN_ENST00000519209.1_Missense_Mutation_p.T330I NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin 577 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) AAGTGCAAAACCTTAAGGATC 0.458000 5 10 0 0 0.000602214 0 0 LPHN2 23266 broad.mit.edu 37 1 82372860 82372860 + Nonsense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:82372860C>T ENST00000370728.1 + 6 877 c.232C>T c.(232-234)Cag>Tag p.Q78* LPHN2_ENST00000370723.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370727.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.Q78*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.Q78* O95490 LPHN2_HUMAN latrophilin 2 78 SUEL-type lectin. 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) TGACCCATTTCAGATGGAGAA 0.423000 6 51 0 0 0.000442599 0 0 TTC30B 150737 broad.mit.edu 37 2 178417083 178417083 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:178417083C>T ENST00000408939.2 - 1 659 c.409G>A c.(409-411)Gag>Aag p.E137K NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 137 cell projection organization cilium binding cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) GGCAGCTGCTCTACCAGGCTC 0.602000 53 62 0 0 0.000147903 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717691 142717691 + Nonsense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:142717691G>A ENST00000381779.4 - 2 1459 c.1234C>T c.(1234-1236)Caa>Taa p.Q412* SLITRK4_ENST00000338017.4_Nonsense_Mutation_p.Q412*|SLITRK4_ENST00000356928.1_Nonsense_Mutation_p.Q412* NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 412 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) ACTGTAATTTGATTGCTGCCT 0.398000 40 89 0 0 0.000374591 0 0 DDB1 1642 broad.mit.edu 37 11 61083814 61083814 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:61083814G>A ENST00000301764.7 - 12 1750 c.1353C>T c.(1351-1353)ttC>ttT p.F451F DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 451 Interaction with CDT1.|Interaction with CUL4A. 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 GATCATCCACGAAACCCATCA 0.502000 Nucleotide excision repair (NER) 68 96 0 0 0.000147903 0 0 SMARCD3 6604 broad.mit.edu 37 7 150939874 150939874 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:150939874C>T ENST00000392811.2 - 5 824 c.350G>A c.(349-351)aGg>aAg p.R117K SMARCD3_ENST00000262188.8_Missense_Mutation_p.R130K|SMARCD3_ENST00000356800.2_Missense_Mutation_p.R117K|SMARCD3_ENST00000477169.1_5'UTR NM_003078.3 NP_003069.2 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 130 cellular lipid metabolic process|chromatin modification|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 nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2) 15 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATCCAGTTTCCTCTCAAATGC 0.577000 31 63 0 0 0.000279167 0 0 TLR8 51311 broad.mit.edu 37 X 12939833 12939833 + Missense_Mutation SNP T T A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:12939833T>A ENST00000218032.6 + 2 2761 c.2674T>A c.(2674-2676)Tct>Act p.S892T TLR8_ENST00000311912.5_Missense_Mutation_p.S910T NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 892 TIR. cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CAAAGATGCCTCTGTTACTGA 0.433000 45 91 0 0 0.000147903 0 0 PAN2 9924 broad.mit.edu 37 12 56711414 56711414 + Missense_Mutation SNP G G T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:56711414G>T ENST00000425394.2 - 26 3964 c.3588C>A c.(3586-3588)ttC>ttA p.F1196L PAN2_ENST00000548043.1_Missense_Mutation_p.F1196L|PAN2_ENST00000440411.3_Missense_Mutation_p.F1192L|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000257931.5_Missense_Mutation_p.F1195L NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 1196 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 GCACTGAGGAGAAGACAGCTG 0.478000 19 49 1.56452e-12 2.39964e-11 9.7654e-05 1 0 SLC6A14 11254 broad.mit.edu 37 X 115568959 115568959 + Splice_Site SNP A A G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:115568959A>G ENST00000371900.4 + 2 138 c.48_splice c.e2-1 p.K17_splice NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 17 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) CTTCCCCAGAAAGTGTCGGCT 0.383000 97 215 0 0 0.000147903 0 0 RGS11 8786 broad.mit.edu 37 16 321436 321436 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr16:321436C>T ENST00000397770.3 - 11 728 c.711G>A c.(709-711)ctG>ctA p.L237L ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.L226L|RGS11_ENST00000316163.5_Silent_p.L216L O94810 RGS11_HUMAN regulator of G-protein signaling 11 237 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1) 8 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GGGTCCTGCCCAGCGCTTTCC 0.647000 5 12 0 0 0.000602214 0 0 CEACAM21 90273 broad.mit.edu 37 19 42083709 42083709 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:42083709G>A ENST00000187608.9 + 2 262 c.222G>A c.(220-222)gaG>gaA p.E74E CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000401445.2_Silent_p.E74E NM_001098506.1|NM_033543.3 NP_001091976.1|NP_291021.2 Q3KPI0 CEA21_HUMAN carcinoembryonic antigen-related cell adhesion molecule 21 74 integral to membrane endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 13 AAACGGTGGAGCCCAACCAGC 0.502000 7 27 0 0 0.000157383 0 0 SLC35F3 148641 broad.mit.edu 37 1 234452365 234452365 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:234452365C>T ENST00000366618.3 + 5 991 c.846C>T c.(844-846)ctC>ctT p.L282L SLC35F3_ENST00000366617.3_Silent_p.L213L NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 213 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) CCGCCATCCTCGCCATCGCTG 0.577000 243 111 0 0 0.000147903 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 37 0 0 0.000157383 0 0 ERAP2 64167 broad.mit.edu 37 5 96253210 96253210 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:96253210G>A ENST00000437043.3 + 19 3495 c.2784G>A c.(2782-2784)ctG>ctA p.L928L CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Silent_p.L883L NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 928 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) GATCACATCTGGATATTTTTC 0.353000 37 61 0 0 0.000437636 0 0 OR5D16 390144 broad.mit.edu 37 11 55606288 55606288 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:55606288G>A ENST00000378396.1 + 1 61 c.61G>A c.(61-63)Gat>Aat p.D21N NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) GGGCTTCTCAGATTACCTGGA 0.413000 33 45 0 0 0.00058488 0 0 UGT1A1 54658 broad.mit.edu 37 2 234676527 234676527 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:234676527G>A ENST00000360418.3 + 3 1029 c.1029G>A c.(1027-1029)tcG>tcA p.S343S UGT1A5_ENST00000373414.3_Silent_p.S344S|UGT1A1_ENST00000305208.5_Silent_p.S343S|UGT1A6_ENST00000406651.1_Silent_p.S75S|UGT1A4_ENST00000373409.3_Silent_p.S344S|UGT1A3_ENST00000482026.1_Silent_p.S344S|UGT1A6_ENST00000373424.1_Silent_p.S75S|UGT1A7_ENST00000373426.3_Silent_p.S340S|UGT1A10_ENST00000373445.1_Silent_p.S340S|UGT1A8_ENST00000373450.4_Silent_p.S340S|UGT1A9_ENST00000354728.4_Silent_p.S340S|UGT1A10_ENST00000344644.5_Silent_p.S340S|UGT1A6_ENST00000305139.6_Silent_p.S342S P22309 UD11_HUMAN 343 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) CCCGACCATCGAATCTTGCGA 0.443000 38 58 0 0 0.000147903 0 0 ELN 2006 broad.mit.edu 37 7 73456982 73456982 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:73456982C>T ENST00000252034.7 + 6 670 c.271C>T c.(271-273)Ctg>Ttg p.L91L ELN_ENST00000458204.1_Silent_p.L81L|ELN_ENST00000380584.4_Silent_p.L91L|ELN_ENST00000357036.5_Silent_p.L91L|ELN_ENST00000320399.6_Silent_p.L91L|ELN_ENST00000358929.4_Silent_p.L91L|ELN_ENST00000414324.1_Silent_p.L81L|ELN_ENST00000380562.4_Silent_p.L91L|ELN_ENST00000320492.7_Silent_p.L79L|ELN_ENST00000380575.4_Silent_p.L81L|ELN_ENST00000380553.4_Intron|ELN_ENST00000445912.1_Silent_p.L91L|ELN_ENST00000429192.1_Silent_p.L91L|ELN_ENST00000380576.5_Silent_p.L91L NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 91 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TCCGGGGGCTCTGGTGCCTGG 0.617000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 13 29 0 0 0.000219431 0 0 ZNF142 7701 broad.mit.edu 37 2 219508403 219508403 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:219508403G>A ENST00000411696.2 - 7 3615 c.2836C>T c.(2836-2838)Ccc>Tcc p.P946S ZNF142_ENST00000449707.1_Missense_Mutation_p.P946S P52746 ZN142_HUMAN zinc finger protein 142 946 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GGCTCCCTGGGAAGCTCCAAA 0.567000 30 88 0 0 0.000132358 0 0 TCF4 6925 broad.mit.edu 37 18 53128261 53128261 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr18:53128261G>A ENST00000354452.3 - 5 904 c.293C>T c.(292-294)tCc>tTc p.S98F RP11-619L19.1_ENST00000587660.1_RNA|TCF4_ENST00000537578.1_Missense_Mutation_p.S74F|TCF4_ENST00000568673.1_Missense_Mutation_p.S74F|TCF4_ENST00000565018.2_Missense_Mutation_p.S98F|TCF4_ENST00000568740.1_Missense_Mutation_p.S74F|TCF4_ENST00000564999.1_Missense_Mutation_p.S98F|TCF4_ENST00000543082.1_Missense_Mutation_p.S56F|TCF4_ENST00000398339.1_Missense_Mutation_p.S200F|TCF4_ENST00000566286.1_Missense_Mutation_p.S96F|TCF4_ENST00000567880.1_Missense_Mutation_p.S98F|TCF4_ENST00000540999.1_Missense_Mutation_p.S74F|TCF4_ENST00000356073.4_Missense_Mutation_p.S98F|TCF4_ENST00000566279.1_Missense_Mutation_p.S98F|TCF4_ENST00000564403.2_Missense_Mutation_p.S98F NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 98 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) TTGTATTCTGGAATTGACAAA 0.388000 11 19 0 0 6.40141e-05 0 0 ALG5 29880 broad.mit.edu 37 13 37524141 37524141 + Missense_Mutation SNP A A T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr13:37524141A>T ENST00000239891.3 - 10 979 c.913T>A c.(913-915)Ttt>Att p.F305I ALG5_ENST00000443765.1_Missense_Mutation_p.F275I NM_013338.4 NP_037470.1 Q9Y673 ALG5_HUMAN ALG5, dolichyl-phosphate beta-glucosyltransferase 305 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) AGTCGTATAAAAAGTAGGTCT 0.353000 24 76 0 0 0.000409698 0 0 ZNF283 284349 broad.mit.edu 37 19 44339683 44339683 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:44339683C>T ENST00000324461.7 + 5 446 c.149C>T c.(148-150)tCa>tTa p.S50L ZNF283_ENST00000590950.1_Missense_Mutation_p.S25L|ZNF283_ENST00000310738.8_Missense_Mutation_p.S14L|ZNF283_ENST00000593268.1_Missense_Mutation_p.S50L|ZNF283_ENST00000588797.1_5'UTR|ZNF283_ENST00000586976.1_3'UTR|ZNF283_ENST00000593164.1_Missense_Mutation_p.S25L NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TTCTGTGCTTCACCAATAGAG 0.418000 8 13 0 0 0.000157383 0 0 SOGA2 23255 broad.mit.edu 37 18 8718623 8718623 + Nonsense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr18:8718623C>T ENST00000359865.3 + 3 317 c.175C>T c.(175-177)Cga>Tga p.R59* SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Nonsense_Mutation_p.R419*|SOGA2_ENST00000400050.3_Nonsense_Mutation_p.R59*|SOGA2_ENST00000517570.1_Nonsense_Mutation_p.R59* NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 410 TGAGCTTATTCGAAGCCTGGA 0.572000 16 33 0 0 0.000132079 0 0 GPR158 57512 broad.mit.edu 37 10 25887955 25887955 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:25887955C>T ENST00000376351.3 + 11 3759 c.3400C>T c.(3400-3402)Ctc>Ttc p.L1134F GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1134 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GAATGAAAATCTCAACCAAAT 0.463000 9 30 0 0 0.000442599 0 0 QTRT1 81890 broad.mit.edu 37 19 10812143 10812143 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:10812143G>A ENST00000250237.5 + 1 17 c.7G>A c.(7-9)Gga>Aga p.G3R QTRT1_ENST00000585885.1_3'UTR NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 3 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) CAAGATGGCGGGAGCAGCTAC 0.697000 4 10 0 0 0.00024832 0 0 DOCK9 23348 broad.mit.edu 37 13 99461655 99461655 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr13:99461655G>A ENST00000376460.1 - 48 5398 c.5318C>T c.(5317-5319)tCg>tTg p.S1773L DOCK9_ENST00000339416.2_Missense_Mutation_p.S1774L|DOCK9_ENST00000448493.2_3'UTR NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1774 DHR-2. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCTGCGGCCCGAGTGCATGAC 0.552000 45 38 0 0 0.000147903 0 0 CDH6 1004 broad.mit.edu 37 5 31299714 31299714 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:31299714G>A ENST00000265071.2 + 5 1052 c.787G>A c.(787-789)Gac>Aac p.D263N CDH6_ENST00000514738.1_Missense_Mutation_p.D208N NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 263 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGATGTCAACGACAACCCTCC 0.438000 20 27 0 0 0.000586117 0 0 ATXN7 6314 broad.mit.edu 37 3 63968664 63968664 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:63968664C>T ENST00000398590.3 + 8 1615 c.1062C>T c.(1060-1062)acC>acT p.T354T ATXN7_ENST00000484332.1_Silent_p.T209T|ATXN7_ENST00000487717.1_Silent_p.T354T|ATXN7_ENST00000538065.1_Silent_p.T354T|ATXN7_ENST00000295900.6_Silent_p.T354T NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 354 SCA7. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) ATCTCGACACCAAGAAGCCCT 0.488000 39 73 0 0 0.000147903 0 0 RERGL 79785 broad.mit.edu 37 12 18234137 18234137 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:18234137C>T ENST00000229002.2 - 6 812 c.606G>A c.(604-606)agG>agA p.R202R RERGL_ENST00000538724.1_Silent_p.R201R NM_024730.2 NP_079006.1 Q9H628 RERGL_HUMAN RERG/RAS-like 202 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 AAACAGATTTCCTTCTCTTTC 0.333000 15 24 0 0 0.000422831 0 0 RGS12 6002 broad.mit.edu 37 4 3427273 3427273 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:3427273C>T ENST00000336727.3 + 14 4221 c.3317C>T c.(3316-3318)cCt>cTt p.P1106L RGS12_ENST00000538395.1_Missense_Mutation_p.P448L|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000344733.5_Missense_Mutation_p.P1106L|RGS12_ENST00000338806.4_Missense_Mutation_p.P458L|RGS12_ENST00000306648.7_Missense_Mutation_p.P504L|RGS12_ENST00000382788.3_Missense_Mutation_p.P1106L NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1106 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GAGAAGGATCCTTCCAGAGGA 0.632000 27 27 0 0 0.000184323 0 0 BSND 7809 broad.mit.edu 37 1 55472797 55472797 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:55472797C>T ENST00000371265.4 + 3 654 c.400C>T c.(400-402)Cct>Tct p.P134S NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 134 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 CTTGCTGGCCCCTGAGATGGG 0.617000 5 29 0 0 0.000602214 0 0 MYO5B 4645 broad.mit.edu 37 18 47363917 47363917 + Missense_Mutation SNP A A G rs138128932 by1000genomes TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr18:47363917A>G ENST00000285039.7 - 37 5407 c.5108T>C c.(5107-5109)gTc>gCc p.V1703A MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|SCARNA17_ENST00000589499.1_RNA NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1703 Dilute. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.V1703A(5) NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CCAAGAGCAGACGTCCTTCCG 0.527000 5 53 0 0 0.000602214 0 0 SNHG14 104472715 broad.mit.edu 37 15 25326479 25326479 + RNA SNP A A G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr15:25326479A>G ENST00000546682.1 + 0 71 SNORD116-15_ENST00000384445.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 AAAGCTGAACAAAATGAGTGA 0.448000 23 69 0 0 0.000117367 0 0 NOS1 4842 broad.mit.edu 37 12 117696239 117696239 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:117696239C>T ENST00000317775.6 - 16 3179 c.2494G>A c.(2494-2496)Gaa>Aaa p.E832K NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.E832K NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 832 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TGCCTCATTTCCATCAAAGCA 0.498000 10 29 0 0 0.000219431 0 0 DSCAM 1826 broad.mit.edu 37 21 41710126 41710126 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr21:41710126G>A ENST00000400454.1 - 8 2162 c.1685C>T c.(1684-1686)tCa>tTa p.S562L NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 562 Ig-like C2-type 6. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TTGCACATCTGAAAGTTTAAG 0.483000 23 57 0 0 0.000375601 0 0 ABI1 10006 broad.mit.edu 37 10 27052880 27052880 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:27052880G>A ENST00000355394.4 - 8 1056 c.833C>T c.(832-834)tCt>tTt p.S278F ABI1_ENST00000490841.2_Intron|ABI1_ENST00000376134.3_Intron|ABI1_ENST00000376138.3_Intron|ABI1_ENST00000376166.1_Intron|ABI1_ENST00000376170.4_Intron|ABI1_ENST00000376160.1_Intron|ABI1_ENST00000346832.5_Missense_Mutation_p.S294F|ABI1_ENST00000376137.4_Intron|ABI1_ENST00000376140.3_Intron|ABI1_ENST00000359188.4_Intron|ABI1_ENST00000376139.2_Intron|ABI1_ENST00000536334.1_Intron|ABI1_ENST00000376142.2_Missense_Mutation_p.S277F Q8IZP0 ABI1_HUMAN abl-interactor 1 277 Pro-rich. actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGGAGGGACAGAAATGTTTTC 0.423000 19 49 0 0 0.000132079 0 0 SERPINA9 327657 broad.mit.edu 37 14 94929550 94929550 + Silent SNP C C T rs139618805 by1000genomes TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:94929550C>T ENST00000337425.5 - 5 1262 c.1188G>A c.(1186-1188)tcG>tcA p.S396S SERPINA9_ENST00000298845.7_Silent_p.S296S|SERPINA9_ENST00000448305.2_Silent_p.S298S|SERPINA9_ENST00000380365.3_Silent_p.S378S|SERPINA9_ENST00000424550.2_Silent_p.S247S|RP11-349I1.2_ENST00000536735.1_RNA NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 378 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity p.S396S(1) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GGCCATCCTTCGATCGGACTA 0.498000 24 55 0 0 0.000184323 0 0 COL21A1 81578 broad.mit.edu 37 6 56035800 56035800 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:56035800C>T ENST00000244728.5 - 4 1164 c.767G>A c.(766-768)gGa>gAa p.G256E COL21A1_ENST00000370819.1_Missense_Mutation_p.G256E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G256E NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 256 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TACTTCATATCCTTTTATCTT 0.338000 21 76 0 0 0.000229342 0 0 KLHL24 54800 broad.mit.edu 37 3 183368779 183368779 + Missense_Mutation SNP T T C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:183368779T>C ENST00000454652.1 + 4 1021 c.635T>C c.(634-636)cTt>cCt p.L212P KLHL24_ENST00000242810.6_Missense_Mutation_p.L212P|KLHL24_ENST00000476808.1_Missense_Mutation_p.L212P Q6TFL4 KLH24_HUMAN kelch-like family member 24 212 BACK. axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) AAAGATGAACTTATTGATTAT 0.378000 28 71 0 0 0.000491102 0 0 KIAA1328 57536 broad.mit.edu 37 18 34802140 34802140 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr18:34802140C>T ENST00000591619.1 + 10 2458 c.1672C>T c.(1672-1674)Cct>Tct p.P558S KIAA1328_ENST00000586135.1_3'UTR|KIAA1328_ENST00000280020.5_Missense_Mutation_p.P562S|KIAA1328_ENST00000543923.1_Intron Q86T90 K1328_HUMAN KIAA1328 562 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) GCACAGAACCCCTGAAGAGTT 0.433000 3 5 0 0 6.4e-05 0 0 DNAH3 55567 broad.mit.edu 37 16 21008662 21008662 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr16:21008662C>T ENST00000261383.3 - 44 6543 c.6544G>A c.(6544-6546)Gac>Aac p.D2182N DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2182 AAA 3 (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) AGCAGCATGTCCACGATGTCC 0.557000 24 31 0 0 9.22233e-05 0 0 OR51B2 79345 broad.mit.edu 37 11 5344634 5344634 + Missense_Mutation SNP T T G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:5344634T>G ENST00000328813.2 - 1 948 c.894A>C c.(892-894)caA>caC p.Q298H HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAATGCCATATTGTATTTGCT 0.373000 19 35 0 0 0.000375601 0 0 ZFP36L1 677 broad.mit.edu 37 14 69262883 69262883 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:69262883C>T ENST00000408913.2 - 1 307 c.129G>A c.(127-129)agG>agA p.R43R Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 297 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GGAGCGCGTCCCTTCGTGGGG 0.662000 16 29 0 0 9.7654e-05 0 0 RB1 5925 broad.mit.edu 37 13 48953779 48953779 + Missense_Mutation SNP T T C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr13:48953779T>C ENST00000267163.4 + 14 1520 c.1382T>C c.(1381-1383)cTt>cCt p.L461P NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 461 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(8) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAATCCATGCTTAAATCAGTA 0.418000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 22 19 0 0 9.22233e-05 0 0 FAM47B 170062 broad.mit.edu 37 X 34961078 34961078 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:34961078G>A ENST00000329357.5 + 1 166 c.130G>A c.(130-132)Gac>Aac p.D44N NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 44 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CCCGCCTGTGGACACCCAGAA 0.567000 7 15 0 0 0.000157383 0 0 UNC13B 10497 broad.mit.edu 37 9 35398948 35398948 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:35398948G>A ENST00000378495.3 + 32 3966 c.3744G>A c.(3742-3744)ggG>ggA p.G1248G UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000396787.1_Silent_p.G1260G|UNC13B_ENST00000378496.4_Silent_p.G1248G NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 1248 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GGGGCACAGGGAATGCATCTC 0.572000 17 13 0 0 7.07596e-05 0 0 MB21D1 115004 broad.mit.edu 37 6 74150069 74150069 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:74150069G>A ENST00000370315.3 - 3 1071 c.977C>T c.(976-978)tCa>tTa p.S326L MB21D1_ENST00000370318.1_Missense_Mutation_p.S326L NM_138441.2 NP_612450.2 Q8N884 M21D1_HUMAN Mab-21 domain containing 1 326 central_nervous_system(1)|large_intestine(4)|lung(1) 6 GCTACTTTTTGATTCCAAAGC 0.428000 87 51 0 0 0.000147903 0 0 SH3BGRL 6451 broad.mit.edu 37 X 80532638 80532638 + Silent SNP T T G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:80532638T>G ENST00000373212.5 + 2 459 c.201T>G c.(199-201)ccT>ccG p.P67P SH3BGRL_ENST00000481106.1_3'UTR NM_003022.2 NP_003013.1 O75368 SH3L1_HUMAN SH3 domain binding glutamic acid-rich protein like 67 cytoplasm|nucleus SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(2)|ovary(1) 4 all_lung(315;5.94e-05) CCCTGCCACCTCAGATTTTCA 0.388000 8 16 0 0 0.000274275 0 0 GRM6 2916 broad.mit.edu 37 5 178413955 178413955 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:178413955C>T ENST00000231188.5 - 7 1562 c.1384G>A c.(1384-1386)Gag>Aag p.E462K GRM6_ENST00000517717.1_Missense_Mutation_p.E462K|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 462 detection of visible light|visual perception integral to plasma membrane NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TCTCCGTTCTCGTTGAACATC 0.657000 4 5 0 0 0.000602214 0 0 ALOX5AP 241 broad.mit.edu 37 13 31338102 31338102 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr13:31338102G>A ENST00000380490.3 + 5 443 c.345G>A c.(343-345)ggG>ggA p.G115G NM_001204406.1|NM_001629.3 NP_001191335.1|NP_001620.2 P20292 AL5AP_HUMAN arachidonate 5-lipoxygenase-activating protein 115 Inhibitor binding. 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) ACATATTTGGGAAACGCATCA 0.403000 105 111 0 0 0.000147903 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17948366 17948366 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:17948366G>A ENST00000361221.3 + 11 1109 c.950G>A c.(949-951)cGg>cAg p.R317Q ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.R278Q|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.R75Q|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.R278Q|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.R95Q|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.R317Q|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.R95Q|ARHGEF10L_ENST00000469726.1_3'UTR NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 317 DH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CAGGTGGTCCGGAGGCATATC 0.587000 37 39 0 0 0.000147903 0 0 SPTBN5 51332 broad.mit.edu 37 15 42164597 42164597 + Missense_Mutation SNP G G C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr15:42164597G>C ENST00000320955.6 - 27 5295 c.5068C>G c.(5068-5070)Caa>Gaa p.Q1690E NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1690 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GTGAGGGTTTGGGCCGTCTGG 0.632000 5 4 0 0 3.59834e-05 0 0 SLC24A3 57419 broad.mit.edu 37 20 19565664 19565664 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr20:19565664G>A ENST00000328041.6 + 5 670 c.473G>A c.(472-474)gGa>gAa p.G158E NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 158 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 ATGGCAGCGGGAAGTTCGGCC 0.547000 16 30 0 0 0.000566183 0 0 UMODL1 89766 broad.mit.edu 37 21 43508509 43508509 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr21:43508509C>T ENST00000400427.1 + 5 889 c.493C>T c.(493-495)Cca>Tca p.P165S UMODL1_ENST00000400424.1_Missense_Mutation_p.P165S|UMODL1_ENST00000408910.2_Missense_Mutation_p.P237S|UMODL1_ENST00000408989.2_Missense_Mutation_p.P237S NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 237 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CCTGCCACGGCCACTGCCTGT 0.637000 6 18 0 0 3.59834e-05 0 0 DQX1 165545 broad.mit.edu 37 2 74751370 74751370 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:74751370C>T ENST00000404568.3 - 4 715 c.496G>A c.(496-498)Gtg>Atg p.V166M DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Missense_Mutation_p.V166M NM_133637.2 NP_598376.2 Q8TE96 DQX1_HUMAN DEAQ box RNA-dependent ATPase 1 166 Helicase ATP-binding. nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 AGTACCAGCACGCCCCAGGCT 0.602000 33 38 0 0 0.000132358 0 0 SLC4A10 57282 broad.mit.edu 37 2 162738880 162738880 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:162738880C>T ENST00000375514.5 + 10 1350 c.1063C>T c.(1063-1065)Ctt>Ttt p.L355F SLC4A10_ENST00000535165.1_Intron|SLC4A10_ENST00000421911.1_Missense_Mutation_p.L374F|SLC4A10_ENST00000415876.2_Missense_Mutation_p.L344F|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.L374F|SLC4A10_ENST00000272716.5_Missense_Mutation_p.L344F NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 374 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTTGTTCATTCTTCTGGGACC 0.328000 9 10 0 0 3.86212e-05 0 0 DIO3 1735 broad.mit.edu 37 14 102027999 102027999 + Missense_Mutation SNP G G T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:102027999G>T ENST00000510508.4 + 1 312 c.166G>T c.(166-168)Gcc>Tcc p.A56S DIO3_ENST00000359323.3_Missense_Mutation_p.A30S P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 30 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) CCTCGGCACGGCCTTCATGCT 0.657000 20 38 2.65835e-16 4.11038e-15 0.000184323 1 0 RGS8 85397 broad.mit.edu 37 1 182616005 182616005 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:182616005C>T ENST00000483095.2 - 7 665 c.408G>A c.(406-408)caG>caA p.Q136Q RGS8_ENST00000367557.4_Silent_p.Q136Q|RGS8_ENST00000367556.1_Silent_p.Q136Q|RGS8_ENST00000258302.4_Silent_p.Q154Q P57771 RGS8_HUMAN regulator of G-protein signaling 8 136 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 5 GGGATGGCTCCTGCAGGTTCT 0.502000 90 46 0 0 0.000147903 0 0 DNAH8 1769 broad.mit.edu 37 6 38690646 38690646 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:38690646G>A ENST00000449981.2 + 2 170 c.61G>A c.(61-63)Gaa>Aaa p.E21K 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 TCCCTCTACGGAAGAGGCTGC 0.602000 23 8 0 0 0.00047179 0 0 NFIC 4782 broad.mit.edu 37 19 3434310 3434310 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:3434310C>T ENST00000589123.1 + 5 838 c.718C>T c.(718-720)Ctg>Ttg p.L240L NFIC_ENST00000341919.3_Silent_p.L249L|NFIC_ENST00000346156.5_Silent_p.L216L|NFIC_ENST00000443272.2_Silent_p.L249L|NFIC_ENST00000586919.1_Silent_p.L216L|NFIC_ENST00000395111.3_Silent_p.L240L|NFIC_ENST00000590282.1_Silent_p.L249L NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 249 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CAACTTCTCCCTGGGGGAGCT 0.617000 10 28 0 0 0.00010058 0 0 SLC2A14 144195 broad.mit.edu 37 12 7984358 7984358 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:7984358G>A ENST00000543909.1 - 9 942 c.183C>T c.(181-183)atC>atT p.I61I SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000431042.2_Silent_p.I38I|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000340749.5_Silent_p.I38I|SLC2A14_ENST00000539924.1_Silent_p.I76I|SLC2A14_ENST00000396589.2_Silent_p.I61I Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 61 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity p.I61I(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) ATTCCTTTATGATCTGCAAAA 0.443000 OREG0021654 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 30 0 0 0.000132079 0 0 CR1 1378 broad.mit.edu 37 1 207785085 207785085 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:207785085C>T ENST00000367049.4 + 38 6359 c.6359C>T c.(6358-6360)tCa>tTa p.S2120L CR1_ENST00000367052.1_Missense_Mutation_p.S1670L|CR1_ENST00000400960.2_Missense_Mutation_p.S1670L|CR1_ENST00000367053.1_Missense_Mutation_p.S1670L|CR1_ENST00000367051.1_Missense_Mutation_p.S1670L NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1670 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GACAACTTTTCACCTGGGCAG 0.557000 48 43 0 0 0.000147903 0 0 FBXL14 144699 broad.mit.edu 37 12 1675965 1675965 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:1675965C>T ENST00000339235.3 - 2 1304 c.1206G>A c.(1204-1206)ggG>ggA p.G402G NM_152441.2 NP_689654.1 Q8N1E6 FXL14_HUMAN F-box and leucine-rich repeat protein 14 402 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 8 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00115) gagaaaaatcccctcgtgcct 0.532000 9 20 0 0 0.000442599 0 0 LAMA1 284217 broad.mit.edu 37 18 7080343 7080343 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr18:7080343G>A ENST00000389658.3 - 2 268 c.175C>T c.(175-177)Cgg>Tgg p.R59W NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 59 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGGACGGGCCGACCTGGCACA 0.547000 32 48 0 0 0.000491102 0 0 GANC 2595 broad.mit.edu 37 15 42631883 42631883 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr15:42631883C>T ENST00000318010.8 + 17 2100 c.1860C>T c.(1858-1860)ttC>ttT p.F620F NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 620 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) TAGGCGGGTTCATTGGGAATC 0.527000 18 66 0 0 0.000175454 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43846077 43846077 + Splice_Site SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:43846077C>T ENST00000389420.3 - 14 2078 c.2079_splice c.e14+1 p.M693_splice ADAMTS20_ENST00000553158.1_Splice_Site_p.M693_splice NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 693 Cys-rich. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GTTTACTTACCATACACTGGC 0.303000 19 61 0 0 0.000586117 0 0 SCN2A 6326 broad.mit.edu 37 2 166188001 166188001 + Silent SNP T T C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:166188001T>C ENST00000375437.2 + 14 2601 c.2311T>C c.(2311-2313)Tta>Cta p.L771L SCN2A_ENST00000375427.2_Silent_p.L771L|SCN2A_ENST00000283256.6_Silent_p.L771L|SCN2A_ENST00000357398.3_Silent_p.L771L NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 771 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CTGCATTGTCTTAAATACACT 0.458000 26 41 0 0 0.000147802 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6428212 6428212 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:6428212C>T ENST00000449001.2 + 12 1860 c.1366C>T c.(1366-1368)Ctt>Ttt p.L456F PLEKHG6_ENST00000396988.3_Missense_Mutation_p.L488F|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L488F NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 488 PH. regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 CAGCGCCCTCCTTGTGCACTG 0.587000 6 11 0 0 0.000274275 0 0 ERN1 2081 broad.mit.edu 37 17 62121413 62121413 + Missense_Mutation SNP A A T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr17:62121413A>T ENST00000433197.2 - 22 2964 c.2869T>A c.(2869-2871)Ttc>Atc p.F957I NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 957 KEN. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 TAGGGCTGGAAGAGTCTCTCG 0.657000 24 71 0 0 0.000586117 0 0 C14orf79 122616 broad.mit.edu 37 14 105459348 105459348 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:105459348C>T ENST00000549240.1 + 2 1845 c.37C>T c.(37-39)Ctc>Ttc p.L13F C14orf79_ENST00000550614.1_Missense_Mutation_p.L13F|C14orf79_ENST00000549584.1_3'UTR|C14orf79_ENST00000547315.1_Missense_Mutation_p.L255F Q96F83 CN079_HUMAN chromosome 14 open reading frame 79 255 breast(1)|endometrium(1)|lung(1) 3 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181) TGAAGGACTCCTCACTGTCAG 0.567000 36 81 0 0 0.000228196 0 0 RARRES3 5920 broad.mit.edu 37 11 63312103 63312103 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:63312103C>T ENST00000439013.2 + 3 182 c.129C>T c.(127-129)ccC>ccT p.P43P RARRES3_ENST00000255688.3_Silent_p.P43P|RARRES3_ENST00000354445.2_Silent_p.P43P|RARRES3_ENST00000537871.1_3'UTR Q9UL19 TIG3_HUMAN retinoic acid receptor responder (tazarotene induced) 3 43 lipid catabolic process|negative regulation of cell proliferation hydrolase activity p.P43P(2) kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 6 GTGAGTACCCCGGGGCTGGCT 0.557000 8 142 0 0 0.000274275 0 0 FA2H 79152 broad.mit.edu 37 16 74752945 74752945 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr16:74752945G>A ENST00000219368.3 - 5 796 c.727C>T c.(727-729)Ccc>Tcc p.P243S FA2H_ENST00000544337.1_Missense_Mutation_p.P30S NM_024306.4 NP_077282.3 Q7L5A8 FA2H_HUMAN fatty acid 2-hydroxylase 243 cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport endoplasmic reticulum membrane|integral to membrane|microsome heme binding|oxidoreductase activity endometrium(2)|large_intestine(4)|lung(3)|skin(1) 10 CTGTCGCTGGGGGGCTTCATG 0.607000 16 17 0 0 0.000566183 0 0 CD2AP 23607 broad.mit.edu 37 6 47501378 47501378 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:47501378C>T ENST00000359314.5 + 3 662 c.206C>T c.(205-207)cCc>cTc p.P69L NM_012120.2 NP_036252.1 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 69 Interaction with ANLN and localization to the midbody. cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) GACAGTTTGCCCATCAAACGG 0.378000 33 25 0 0 0.000132358 0 0 PCMTD2 55251 broad.mit.edu 37 20 62891515 62891515 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr20:62891515C>T ENST00000308824.6 + 2 324 c.197C>T c.(196-198)cCg>cTg p.P66L PCMTD2_ENST00000369758.3_Missense_Mutation_p.P66L|PCMTD2_ENST00000299468.7_Missense_Mutation_p.P66L NM_018257.2 NP_060727.2 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 66 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1) 17 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CTCTCAGCCCCGTGCATCTAC 0.488000 31 49 0 0 0.000491102 0 0 DSP 1832 broad.mit.edu 37 6 7580076 7580076 + Missense_Mutation SNP A A T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:7580076A>T ENST00000379802.3 + 23 3994 c.3653A>T c.(3652-3654)aAg>aTg p.K1218M DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1218 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AACATTACGAAGACCACCATC 0.358000 33 27 0 0 0.000409698 0 0 SERPINA1 5265 broad.mit.edu 37 14 94844793 94844793 + Missense_Mutation SNP T T C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:94844793T>C ENST00000448921.1 - 7 1822 c.1250A>G c.(1249-1251)cAa>cGa p.Q417R SERPINA1_ENST00000449399.3_Missense_Mutation_p.Q417R|SERPINA1_ENST00000437397.1_Missense_Mutation_p.Q417R|SERPINA1_ENST00000440909.1_Missense_Mutation_p.Q417R|SERPINA1_ENST00000355814.4_Missense_Mutation_p.Q417R|SERPINA1_ENST00000404814.4_Missense_Mutation_p.Q417R|SERPINA1_ENST00000393088.4_Missense_Mutation_p.Q417R|SERPINA1_ENST00000393087.4_Missense_Mutation_p.Q417R 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 1 417 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) CAGTTATTTTTGGGTGGGATT 0.512000 18 57 0 0 9.7654e-05 0 0 TMEM63C 57156 broad.mit.edu 37 14 77706031 77706031 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:77706031C>T ENST00000298351.4 + 12 1036 c.892C>T c.(892-894)Cgc>Tgc p.R298C NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 298 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) CCCCTGTGCCCGCCTGTGCTT 0.627000 4 6 0 0 0.000602214 0 0 KCNH5 27133 broad.mit.edu 37 14 63417257 63417257 + Silent SNP A A G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:63417257A>G ENST00000322893.7 - 7 1231 c.963T>C c.(961-963)agT>agC p.S321S KCNH5_ENST00000394964.2_Silent_p.S263S|KCNH5_ENST00000420622.2_Silent_p.S321S|KCNH5_ENST00000394968.1_Silent_p.S263S NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 321 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTTTTAAAGAACTGAAGAGAC 0.433000 13 25 0 0 0.000566183 0 0 OR4M1 441670 broad.mit.edu 37 14 20248603 20248603 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:20248603G>A ENST00000315957.4 + 1 203 c.122G>A c.(121-123)gGa>gAa p.G41E NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G41A(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATCCTACCAGGAAATATCCTT 0.423000 82 230 0 0 0.000147903 0 0 POLR3B 55703 broad.mit.edu 37 12 106890623 106890623 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:106890623G>A ENST00000228347.4 + 25 3133 c.2911G>A c.(2911-2913)Gat>Aat p.D971N POLR3B_ENST00000539066.1_Missense_Mutation_p.D913N|RP11-144F15.1_ENST00000551505.1_Intron NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 971 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TAAAGTGAAGGATGTGTGTGA 0.522000 15 27 0 0 0.000566183 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713883 30713883 + Missense_Mutation SNP G G A rs143095746 by1000genomes TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:30713883G>A ENST00000295754.5 + 4 1590 c.1208G>A c.(1207-1209)cGt>cAt p.R403H TGFBR2_ENST00000359013.4_Missense_Mutation_p.R428H NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 403 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 CTTTCCCTGCGTCTGGACCCT 0.552000 82 114 0 0 0.000147903 0 0 JUP 3728 broad.mit.edu 37 17 39928022 39928022 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr17:39928022C>T ENST00000393931.3 - 2 203 c.85G>A c.(85-87)Ggc>Agc p.G29S JUP_ENST00000393930.1_Missense_Mutation_p.G29S|JUP_ENST00000540235.1_Missense_Mutation_p.G29S|JUP_ENST00000310706.5_Missense_Mutation_p.G29S NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 29 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GTGTTGGCGCCCGAGTGGATA 0.597000 6 10 0 0 3.59834e-05 0 0 LIG1 3978 broad.mit.edu 37 19 48634356 48634356 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:48634356C>T ENST00000263274.7 - 19 2217 c.1798G>A c.(1798-1800)Gac>Aac p.D600N LIG1_ENST00000536218.1_Missense_Mutation_p.D532N|LIG1_ENST00000427526.2_Missense_Mutation_p.D569N NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 600 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CTGATGATGTCCGGGTACTTC 0.597000 Nucleotide excision repair (NER) 15 23 0 0 9.7654e-05 0 0 STRC 161497 broad.mit.edu 37 15 43896314 43896314 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr15:43896314C>T ENST00000450892.2 - 22 4332 c.4255G>A c.(4255-4257)Gaa>Aaa p.E1419K STRC_ENST00000541030.1_Missense_Mutation_p.E646K NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1419 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TGCTGCTTTTCTAGAAGCCGC 0.587000 4 10 0 0 0.00024832 0 0 ST18 9705 broad.mit.edu 37 8 53085104 53085104 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:53085104G>A ENST00000276480.7 - 10 1000 c.317C>T c.(316-318)tCa>tTa p.S106L NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 106 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTGTGCAGTTGAAAGAAGACT 0.328000 14 41 0 0 0.000308642 0 0 MYO18B 84700 broad.mit.edu 37 22 26343678 26343678 + Splice_Site SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr22:26343678G>A ENST00000335473.7 + 36 5882 c.5631_splice c.e36-1 p.V1878_splice MYO18B_ENST00000407587.2_Splice_Site_p.V1879_splice|MYO18B_ENST00000536101.1_Splice_Site_p.V1878_splice NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1878 Tail. 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 CCTCCCCCAGGTGGATGAGCA 0.567000 4 11 0 0 0.000602214 0 0 POSTN 10631 broad.mit.edu 37 13 38143461 38143461 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr13:38143461C>T ENST00000379747.4 - 21 2524 c.2407G>A c.(2407-2409)Gaa>Aaa p.E803K POSTN_ENST00000379749.4_Intron|POSTN_ENST00000541179.1_Intron|POSTN_ENST00000379742.4_Missense_Mutation_p.E746K|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379743.4_Missense_Mutation_p.E776K|POSTN_ENST00000541481.1_Missense_Mutation_p.E716K NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 803 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CTTTTAATTTCTTCATCTTCA 0.373000 37 39 0 0 0.000509022 0 0 GPR115 221393 broad.mit.edu 37 6 47675989 47675989 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:47675989G>A ENST00000283303.2 + 3 381 c.123G>A c.(121-123)ggG>ggA p.G41G GPR115_ENST00000327753.3_Silent_p.G41G|GPR115_ENST00000371220.1_Silent_p.G98G NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 41 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GCCCTGAAGGGAAACCCAAGA 0.453000 5 36 0 0 8.12818e-05 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905766 144905766 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:144905766C>T ENST00000370490.1 + 1 6078 c.1823C>T c.(1822-1824)tCc>tTc p.S608F SLITRK2_ENST00000447897.2_Missense_Mutation_p.S608F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S608F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S608F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.S608F Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 608 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCTAGTTCCTATCCTGAA 0.448000 17 38 0 0 0.000422831 0 0 TGIF2 60436 broad.mit.edu 37 20 35219438 35219438 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr20:35219438C>T ENST00000373874.2 + 3 517 c.318C>T c.(316-318)ccC>ccT p.P106P RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Silent_p.P106P|TGIF2-C20orf24_ENST00000558530.1_Intron NM_001199514.1|NM_001199515.1 NP_001186443.1|NP_001186444.1 Q9GZN2 TGIF2_HUMAN TGFB-induced factor homeobox 2 106 Repressive function. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) TGGCCCTCCCCCGTGGCAGCA 0.637000 32 77 0 0 0.000132358 0 0 ASB1 51665 broad.mit.edu 37 2 239344455 239344455 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:239344455C>T ENST00000264607.4 + 3 542 c.295C>T c.(295-297)Cgg>Tgg p.R99W ASB1_ENST00000409297.1_Intron|ASB1_ENST00000469885.1_3'UTR NM_001040445.1 NP_001035535.1 Q9Y576 ASB1_HUMAN ankyrin repeat and SOCS box containing 1 99 intracellular signal transduction|negative regulation of cytokine biosynthetic process breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1) 8 all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644) CTTCCTCATCCGGAAGGGGGC 0.602000 4 28 0 0 0.000602214 0 0 KRTAP6-1 337966 broad.mit.edu 37 21 31986063 31986063 + Missense_Mutation SNP C C T rs28567421 byFrequency TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr21:31986063C>T ENST00000329122.2 - 1 186 c.161G>A c.(160-162)cGc>cAc p.R54H NM_181602.1 NP_853633.1 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 54 cytosol|intermediate filament breast(2)|endometrium(1)|lung(7) 10 ACAGAGGGAGCGGGAGCCATA 0.587000 23 53 0 0 0.000147802 0 0 C10orf71 118461 broad.mit.edu 37 10 50531639 50531639 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:50531639G>A ENST00000374144.3 + 3 1337 c.1049G>A c.(1048-1050)gGg>gAg p.G350E C10orf71_ENST00000323868.4_Missense_Mutation_p.G350E Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 350 endometrium(1) 1 ATACCCTGGGGGTGCAGGGAT 0.592000 4 18 0 0 0.000274275 0 0 R3HDM1 23518 broad.mit.edu 37 2 136409326 136409326 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:136409326C>T ENST00000264160.4 + 17 2017 c.1647C>T c.(1645-1647)agC>agT p.S549S R3HDM1_ENST00000410054.1_Silent_p.S494S|R3HDM1_ENST00000329971.3_Silent_p.S420S|R3HDM1_ENST00000409478.1_Silent_p.S421S|R3HDM1_ENST00000409606.1_Silent_p.S550S NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 549 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) CTCAGTTTAGCCACATGAGTC 0.453000 60 102 0 0 0.000147903 0 0 NUP98 4928 broad.mit.edu 37 11 3752738 3752738 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:3752738C>T ENST00000324932.7 - 14 2033 c.1613G>A c.(1612-1614)cGc>cAc p.R538H NUP98_ENST00000397007.4_Missense_Mutation_p.R555H|NUP98_ENST00000355260.3_Missense_Mutation_p.R538H|NUP98_ENST00000397004.4_Missense_Mutation_p.R538H|NUP98_ENST00000359171.4_Missense_Mutation_p.R538H NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 555 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity p.R538H(1) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AGTGGCAGGGCGGGGTGTCAG 0.458000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 34 124 0 0 0.000270559 0 0 LRBA 987 broad.mit.edu 37 4 151749573 151749573 + Missense_Mutation SNP G G A rs149324157 byFrequency TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:151749573G>A ENST00000535741.1 - 30 5403 c.4930C>T c.(4930-4932)Ctt>Ttt p.L1644F LRBA_ENST00000357115.3_Missense_Mutation_p.L1644F|LRBA_ENST00000507224.1_Missense_Mutation_p.L1644F|LRBA_ENST00000510413.1_Missense_Mutation_p.L1644F P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1644 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) TCTAAAGAAAGAGTAGATAGC 0.453000 13 62 0 0 0.00010058 0 0 XAGE3 170626 broad.mit.edu 37 X 52893828 52893828 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:52893828C>T ENST00000346279.3 - 4 359 c.289G>A c.(289-291)Gaa>Aaa p.E97K XAGE3_ENST00000375491.3_Missense_Mutation_p.E97K NM_133179.2 NP_573440.1 Q8WTP9 GAGD4_HUMAN X antigen family, member 3 97 kidney(1)|large_intestine(1)|lung(2) 4 TTAAATTGTTCTGATTTTGGC 0.403000 31 59 0 0 0.000491102 0 0 XAB2 56949 broad.mit.edu 37 19 7692252 7692252 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:7692252G>A ENST00000358368.4 - 4 436 c.399C>T c.(397-399)ttC>ttT p.F133F XAB2_ENST00000534844.1_Silent_p.F130F NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 133 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 GGGCACGGTCGAAGGTGCGGC 0.647000 Direct reversal of damage;Nucleotide excision repair (NER) 8 13 0 0 0.00010058 0 0 C2 717 broad.mit.edu 37 6 31903828 31903828 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:31903828C>T ENST00000299367.5 + 7 1254 c.978C>T c.(976-978)gcC>gcT p.A326A C2_ENST00000452323.2_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Silent_p.A80A|C2_ENST00000442278.2_Silent_p.A194A|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron NM_000063.4 NP_000054.2 complement component 2 haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 27 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) TGGAAAATGCCAACTATAAAG 0.483000 62 248 0 0 0.000147903 0 0 TENM1 10178 broad.mit.edu 37 X 123518112 123518112 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:123518112G>A ENST00000422452.2 - 30 6732 c.6669C>T c.(6667-6669)ggC>ggT p.G2223G STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Silent_p.G2216G NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GCCTCAGAAAGCCATCTTCAT 0.438000 42 53 0 0 0.000374591 0 0 IPO4 79711 broad.mit.edu 37 14 24655589 24655589 + Silent SNP G G T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:24655589G>T ENST00000354464.6 - 10 1085 c.909C>A c.(907-909)ccC>ccA p.P303P RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 303 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) GGCCTGGTGGGGGCTCAGCAG 0.547000 7 114 0.000274275 0.00411845 0.000274275 1 0 PCDHB3 56132 broad.mit.edu 37 5 140481796 140481796 + Nonsense_Mutation SNP C C G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:140481796C>G ENST00000231130.2 + 1 1563 c.1563C>G c.(1561-1563)taC>taG p.Y521* NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 521 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCTGGACTACGAGGCCCTGC 0.692000 17 28 0 0 9.7654e-05 0 0 ZNF813 126017 broad.mit.edu 37 19 53994186 53994186 + Nonsense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:53994186C>T ENST00000396403.4 + 4 828 c.700C>T c.(700-702)Caa>Taa p.Q234* ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 234 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) AAGGAAACATCAAATAATCCA 0.383000 36 68 0 0 0.000109025 0 0 INSL6 11172 broad.mit.edu 37 9 5164230 5164230 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:5164230C>T ENST00000381641.3 - 2 390 c.325G>A c.(325-327)Gaa>Aaa p.E109K INSL6_ENST00000510407.1_5'UTR NM_007179.2 NP_009110.2 Q9Y581 INSL6_HUMAN insulin-like 6 109 extracellular region hormone activity breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) GACTGCATTTCCCAACTGTTT 0.318000 31 76 0 0 0.000491102 0 0 SHD 56961 broad.mit.edu 37 19 4280318 4280318 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:4280318G>A ENST00000543264.2 + 1 1721 c.258G>A c.(256-258)atG>atA p.M86I SHD_ENST00000599689.1_Missense_Mutation_p.M86I NM_020209.3 NP_064594.3 Q96IW2 SHD_HUMAN Src homology 2 domain containing transforming protein D 86 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1) 14 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18) CTGCGGATATGGCCAGAGCCA 0.687000 3 2 0 0 6.4e-05 0 0 NEO1 4756 broad.mit.edu 37 15 73593717 73593717 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr15:73593717G>A ENST00000339362.5 + 29 4668 c.4221G>A c.(4219-4221)agG>agA p.R1407R NEO1_ENST00000261908.6_Silent_p.R1407R|NEO1_ENST00000558964.1_Silent_p.R1396R|NEO1_ENST00000560262.1_Silent_p.R1354R Q92859 NEO1_HUMAN neogenin 1 1407 axon guidance|cell adhesion|positive regulation of muscle cell differentiation Golgi apparatus|integral to plasma membrane|nucleus NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 57 CTCTAGGAAGGAGCCGGCCTC 0.567000 8 19 0 0 3.86212e-05 0 0 RICTOR 253260 broad.mit.edu 37 5 38963106 38963106 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:38963106G>A ENST00000357387.3 - 17 1468 c.1438C>T c.(1438-1440)Cat>Tat p.H480Y RICTOR_ENST00000296782.5_Missense_Mutation_p.H480Y NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 480 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TTCATTTCATGGAAGCGTTTT 0.383000 22 37 0 0 0.000295444 0 0 CDKL2 8999 broad.mit.edu 37 4 76529007 76529007 + Silent SNP T T C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:76529007T>C ENST00000429927.2 - 6 1492 c.789A>G c.(787-789)ttA>ttG p.L263L CDKL2_ENST00000307465.4_Silent_p.L263L NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 263 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TTACCTTTGCTAAATCTATCA 0.333000 12 74 0 0 0.000422831 0 0 AMOTL2 51421 broad.mit.edu 37 3 134077418 134077418 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:134077418G>A ENST00000514516.1 - 9 2597 c.2419C>T c.(2419-2421)Ctg>Ttg p.L807L AMOTL2_ENST00000422605.2_Silent_p.L749L|AMOTL2_ENST00000513145.1_Silent_p.L747L|AMOTL2_ENST00000249883.5_Silent_p.L750L NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 749 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 CTGCACCCCAGAAGGCTGTCA 0.647000 OREG0015814 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 16 0 0 8.12818e-05 0 0 LUZP1 7798 broad.mit.edu 37 1 23420592 23420592 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:23420592C>T ENST00000302291.4 - 4 964 c.163G>A c.(163-165)Gaa>Aaa p.E55K LUZP1_ENST00000374623.3_Missense_Mutation_p.E55K|LUZP1_ENST00000418342.1_Missense_Mutation_p.E55K|LUZP1_ENST00000314174.5_Missense_Mutation_p.E55K Q86V48 LUZP1_HUMAN leucine zipper protein 1 55 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) TTGCTACCTTCTGCCTGAATC 0.517000 50 53 0 0 0.000147903 0 0 DPY19L4 286148 broad.mit.edu 37 8 95780715 95780715 + Missense_Mutation SNP C C A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:95780715C>A ENST00000414645.2 + 12 1367 c.1268C>A c.(1267-1269)cCt>cAt p.P423H NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 423 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) TCTTTATTACCTTTCTACATT 0.323000 12 648 0.000151284 0.00228364 0.000151284 1 0 USP9X 8239 broad.mit.edu 37 X 41057871 41057871 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:41057871G>A ENST00000324545.7 + 30 5104 c.4471G>A c.(4471-4473)Gtc>Atc p.V1491I USP9X_ENST00000378308.2_Missense_Mutation_p.V1491I NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked 1491 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 GGCTATTCCGGTCTGTGGTTC 0.373000 23 52 0 0 0.000586117 0 0 COL4A1 1282 broad.mit.edu 37 13 110827011 110827011 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr13:110827011G>A ENST00000375820.4 - 38 3405 c.3284C>T c.(3283-3285)tCc>tTc p.S1095F NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1095 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AAGGCCTGGGGACCCTGGCAT 0.532000 34 94 0 0 0.000491102 0 0 RASGRP3 25780 broad.mit.edu 37 2 33749069 33749069 + Missense_Mutation SNP A A G rs35406835 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:33749069A>G ENST00000403687.3 + 8 1380 c.640A>G c.(640-642)Acc>Gcc p.T214A RASGRP3_ENST00000402538.3_Missense_Mutation_p.T214A|RASGRP3_ENST00000407811.1_Missense_Mutation_p.T214A NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 214 Ras-GEF. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) TAGCAAACCAACCCCCCAGCA 0.428000 69 89 0 0 0.000147903 0 0 CBX6 23466 broad.mit.edu 37 22 39263084 39263084 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr22:39263084G>A ENST00000407418.3 - 5 492 c.369C>T c.(367-369)atC>atT p.I123I CBX6_ENST00000216083.6_Silent_p.I105I O95503 CBX6_HUMAN chromobox homolog 6 123 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(58;0.04) GGCAGCGGCGGATGTCCTTCT 0.697000 5 6 0 0 8.12818e-05 0 0 MPPED2 744 broad.mit.edu 37 11 30516965 30516965 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:30516965G>A ENST00000448418.2 - 4 774 c.414C>T c.(412-414)ttC>ttT p.F138F MPPED2_ENST00000358117.5_Silent_p.F138F NM_001145399.1 NP_001138871.1 Q15777 MPPD2_HUMAN metallophosphoesterase domain containing 2 138 nervous system development hydrolase activity|metal ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2) 33 ACACAGAGGGGAAACGGTAGT 0.403000 18 41 0 0 0.000132079 0 0 RASSF9 9182 broad.mit.edu 37 12 86198973 86198973 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:86198973C>T ENST00000361228.3 - 2 1183 c.815G>A c.(814-816)cGa>cAa p.R272Q NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 272 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ATATTTCAGTCGTTCTTCCAG 0.393000 36 83 0 0 0.000159656 0 0 POP1 10940 broad.mit.edu 37 8 99148715 99148715 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:99148715C>T ENST00000401707.2 + 8 1098 c.1017C>T c.(1015-1017)atC>atT p.I339I POP1_ENST00000349693.3_Silent_p.I339I NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 339 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) TTTAGGATATCTTAGAGGAAA 0.318000 69 63 0 0 0.000147903 0 0 PRDX6 9588 broad.mit.edu 37 1 173446598 173446598 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:173446598G>A ENST00000340385.5 + 1 194 c.62G>A c.(61-63)gGc>gAc p.G21D NM_004905.2 NP_004896.1 P30041 PRDX6_HUMAN peroxiredoxin 6 21 Thioredoxin. cell redox homeostasis|phospholipid catabolic process cytoplasmic membrane-bounded vesicle|cytosol|lysosome peroxiredoxin activity|phospholipase A2 activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 12 ACCACCGTCGGCCGCATCCGT 0.652000 4 29 0 0 0.000602214 0 0 ZNF574 64763 broad.mit.edu 37 19 42583941 42583941 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:42583941C>T ENST00000600245.1 + 2 1838 c.1183C>T c.(1183-1185)Cca>Tca p.P395S CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.P395S|ZNF574_ENST00000222339.7_Missense_Mutation_p.P485S Q6ZN55 ZN574_HUMAN zinc finger protein 574 395 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) GCATTCATGTCCATGTGGGAA 0.592000 30 34 0 0 0.000491102 0 0 FAM9A 171482 broad.mit.edu 37 X 8767100 8767100 + Missense_Mutation SNP T T C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:8767100T>C ENST00000543214.1 - 3 262 c.127A>G c.(127-129)Acc>Gcc p.T43A FAM9A_ENST00000381003.3_Missense_Mutation_p.T43A NM_001171186.1 NP_001164657.1 Q8IZU1 FAM9A_HUMAN family with sequence similarity 9, member A 43 nucleolus endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 18 Hepatocellular(5;0.219) GGCTCCATGGTTGGCTGTCCT 0.542000 18 6 0 0 9.7654e-05 0 0 THSD7B 80731 broad.mit.edu 37 2 137814398 137814398 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:137814398C>T ENST00000409968.1 + 3 726 c.548C>T c.(547-549)tCt>tTt p.S183F THSD7B_ENST00000413152.2_Missense_Mutation_p.S152F|THSD7B_ENST00000272643.3_Missense_Mutation_p.S183F|THSD7B_ENST00000543459.1_Missense_Mutation_p.S42F thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TGTGTAGTATCTGAGTTCTTA 0.493000 73 95 0 0 0.000147903 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431932 140431932 + Nonsense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:140431932C>T ENST00000306549.3 + 1 954 c.877C>T c.(877-879)Cag>Tag p.Q293* NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 293 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAAGACGTTTCAGATTGACCC 0.468000 20 28 0 0 0.000132079 0 0 SALL1 6299 broad.mit.edu 37 16 51174965 51174965 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr16:51174965G>A ENST00000440970.1 - 2 1308 c.877C>T c.(877-879)Cca>Tca p.P293S SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P390S|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 390 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGTAGAAGTGGATTAGACGCA 0.522000 17 60 0 0 9.7654e-05 0 0 CCT5 22948 broad.mit.edu 37 5 10254948 10254948 + Missense_Mutation SNP T T C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:10254948T>C ENST00000280326.4 + 3 749 c.329T>C c.(328-330)gTt>gCt p.V110A CCT5_ENST00000503026.1_Missense_Mutation_p.V89A|CCT5_ENST00000515390.1_Intron|CCT5_ENST00000515676.1_Missense_Mutation_p.V72A|CCT5_ENST00000506600.1_Intron NM_012073.3 NP_036205.1 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 110 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 ACAGGAGTGGTTGGTAAGAAA 0.423000 21 34 0 0 0.000295444 0 0 GABBR1 2550 broad.mit.edu 37 6 29577156 29577156 + Splice_Site SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:29577156C>T ENST00000377034.4 - 15 2044 c.1708_splice c.e15-1 p.G570_splice GABBR1_ENST00000355973.3_Splice_Site_p.G453_splice|GABBR1_ENST00000377012.4_Splice_Site_p.G453_splice|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000377016.4_Splice_Site_p.G508_splice NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 570 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) GGGGGACCCTCCTGCATGGCA 0.532000 10 48 0 0 6.40141e-05 0 0 ARMCX5 64860 broad.mit.edu 37 X 101858400 101858400 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:101858400G>A ENST00000604957.1 + 1 3953 c.1331G>A c.(1330-1332)gGa>gAa p.G444E ARMCX5_ENST00000536530.1_Missense_Mutation_p.G444E|ARMCX5_ENST00000537008.1_Missense_Mutation_p.G444E|ARMCX5_ENST00000541409.1_Missense_Mutation_p.G444E|ARMCX5_ENST00000372742.1_Missense_Mutation_p.G444E|ARMCX5_ENST00000246174.2_Missense_Mutation_p.G444E|RP4-769N13.6_ENST00000476910.1_RNA|RP4-769N13.7_ENST00000602441.1_RNA NM_001168478.1 NP_001161950.1 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 444 binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 22 TTAAACAAGGGAAGTGTCAAA 0.353000 31 67 0 0 0.000339439 0 0 NAV2 89797 broad.mit.edu 37 11 20104140 20104140 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:20104140C>T ENST00000396085.1 + 26 5689 c.5328C>T c.(5326-5328)gtC>gtT p.V1776V NAV2_ENST00000533917.1_Intron|NAV2_ENST00000396087.3_Silent_p.V1832V|NAV2_ENST00000349880.4_Intron|NAV2_ENST00000540292.1_Silent_p.V1763V|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000311043.8_Intron|NAV2_ENST00000527559.2_Silent_p.V1761V NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1832 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 TCTGGCAGGTCAATGAGGTAA 0.443000 36 48 0 0 0.000589545 0 0 UAP1 6675 broad.mit.edu 37 1 162567623 162567623 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:162567623C>T ENST00000271469.3 + 10 1753 c.1451C>T c.(1450-1452)tCt>tTt p.S484F UAP1_ENST00000367926.4_Missense_Mutation_p.S467F|UAP1_ENST00000486089.1_3'UTR|UAP1_ENST00000367924.1_Missense_Mutation_p.S483F|UAP1_ENST00000367925.1_Missense_Mutation_p.S484F Q16222 UAP1_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1 484 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|nucleus|plasma membrane UDP-N-acetylglucosamine diphosphorylase activity breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1) 22 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TGTGAAATCTCTCCTCTTATC 0.338000 120 65 0 0 0.000147903 0 0 TEX26 122046 broad.mit.edu 37 13 31531145 31531145 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr13:31531145G>A ENST00000380473.3 + 4 461 c.448G>A c.(448-450)Gac>Aac p.D150N TEX26_ENST00000530916.1_3'UTR NM_152325.1 NP_689538.1 Q8N6G2 CM026_HUMAN testis expressed 26 150 p.D150N(1) TACTAAGAGAGACTTTGTGGA 0.438000 40 47 0 0 0.000125731 0 0 IL1RL1 9173 broad.mit.edu 37 2 102957281 102957281 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:102957281G>A ENST00000311734.2 + 5 942 c.603G>A c.(601-603)acG>acA p.T201T IL1RL1_ENST00000404917.2_Silent_p.T84T|IL1RL1_ENST00000393393.3_Silent_p.T201T|IL1RL1_ENST00000233954.1_Silent_p.T201T|IL1RL1_ENST00000409584.1_Silent_p.T201T Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 201 innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 GGTCCTTCACGGTCAAGGGTA 0.443000 6 25 0 0 0.000157383 0 0 FAAH2 158584 broad.mit.edu 37 X 57515239 57515239 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:57515239G>A ENST00000374900.4 + 11 1593 c.1473G>A c.(1471-1473)ctG>ctA p.L491L FAAH2_ENST00000491179.1_3'UTR NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 491 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 CACTGGGACTGAATGCCAAAG 0.488000 HNSCC(52;0.14) 13 24 0 0 0.00010058 0 0 NLRP10 338322 broad.mit.edu 37 11 7982349 7982349 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:7982349C>T ENST00000328600.2 - 2 971 c.810G>A c.(808-810)aaG>aaA p.K270K NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 270 NACHT. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCAGGCTCTCCTTGGGACTCA 0.552000 25 54 0 0 0.000147802 0 0 ZNF200 7752 broad.mit.edu 37 16 3273906 3273906 + Silent SNP G G T rs138531369 byFrequency TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr16:3273906G>T ENST00000431561.3 - 5 1786 c.1174C>A c.(1174-1176)Cga>Aga p.R392R ZNF200_ENST00000396871.4_Silent_p.R391R|ZNF200_ENST00000575948.1_Silent_p.R391R|ZNF200_ENST00000396868.3_Silent_p.R391R|ZNF200_ENST00000414144.2_Silent_p.R392R|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396870.4_Silent_p.R391R NM_001145447.1|NM_003454.3 NP_001138919.1|NP_003445.2 P98182 ZN200_HUMAN zinc finger protein 200 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.R392R(1) breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 17 TTCTGCTTTCGGGTCTTACAG 0.473000 6 170 0.000157383 0.00236945 0.000157383 1 0 ATP13A4 84239 broad.mit.edu 37 3 193232645 193232645 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:193232645G>A ENST00000342695.4 - 2 398 c.76C>T c.(76-78)Cgg>Tgg p.R26W ATP13A4_ENST00000295548.3_Missense_Mutation_p.R26W|ATP13A4_ENST00000392443.3_Missense_Mutation_p.R26W NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 26 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.R26W(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CCTTGAGTCCGATAGCCAAAT 0.418000 18 24 0 0 9.7654e-05 0 0 CFHR5 81494 broad.mit.edu 37 1 196971796 196971796 + Splice_Site SNP T T C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:196971796T>C ENST00000367414.5 + 8 1458 c.e8+2 CFHR5_ENST00000256785.4_Splice_Site NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GCTGTGTTGGTTAGTAGTTTA 0.323000 6 45 0 0 0.000157383 0 0 DENND3 22898 broad.mit.edu 37 8 142199114 142199114 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:142199114G>A ENST00000519811.1 + 19 3184 c.3114G>A c.(3112-3114)caG>caA p.Q1038Q DENND3_ENST00000424248.1_Silent_p.Q906Q|DENND3_ENST00000523308.1_Silent_p.Q8Q|DENND3_ENST00000262585.2_Silent_p.Q958Q A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 958 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) ACCAGAACCAGGTGTGGGTTG 0.512000 8 26 0 0 6.40141e-05 0 0 ASTN1 460 broad.mit.edu 37 1 176863711 176863711 + Missense_Mutation SNP T T G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:176863711T>G ENST00000367654.2 - 17 2964 c.2951A>C c.(2950-2952)aAc>aCc p.N984T ASTN1_ENST00000424564.2_Missense_Mutation_p.N976T|ASTN1_ENST00000361833.2_Missense_Mutation_p.N976T|ASTN1_ENST00000367657.3_Missense_Mutation_p.N976T O14525 ASTN1_HUMAN astrotactin 1 984 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CTGGGTCTGGTTGTTGGTCAC 0.572000 6 45 0 0 8.12818e-05 0 0 FCN1 2219 broad.mit.edu 37 9 137801707 137801707 + Missense_Mutation SNP C C G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:137801707C>G ENST00000371806.3 - 9 1009 c.918G>C c.(916-918)tgG>tgC p.W306C NM_002003.3 NP_001994.2 O00602 FCN1_HUMAN ficolin (collagen/fibrinogen domain containing) 1 306 Fibrinogen C-terminal. opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|receptor binding|sugar binding endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07) TCGCCGCACTCCAGTTGATAC 0.562000 29 47 0 0 0.000117367 0 0 ATXN2 6311 broad.mit.edu 37 12 111956089 111956089 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:111956089G>A ENST00000377617.3 - 9 1770 c.1609C>T c.(1609-1611)Ccg>Tcg p.P537S ATXN2_ENST00000389153.4_Missense_Mutation_p.P272S|ATXN2_ENST00000550104.1_Missense_Mutation_p.P537S|ATXN2_ENST00000542287.2_Missense_Mutation_p.P272S|ATXN2_ENST00000535949.1_Missense_Mutation_p.P248S NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 537 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 CCAGAATTCGGGTTGAAATCT 0.423000 25 56 0 0 0.000279167 0 0 DARS2 55157 broad.mit.edu 37 1 173799875 173799875 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:173799875C>T ENST00000361951.4 + 4 1099 c.372C>T c.(370-372)tcC>tcT p.S124S DARS2_ENST00000239457.5_5'UTR NM_018122.4 NP_060592.2 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 124 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 30 L-Aspartic Acid(DB00128) CAGTCATTTCCCGTCCTGCAG 0.453000 10 112 0 0 6.40141e-05 0 0 OSBP 5007 broad.mit.edu 37 11 59361193 59361193 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:59361193C>T ENST00000263847.1 - 9 2041 c.1562G>A c.(1561-1563)aGt>aAt p.S521N NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 521 lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GGGATGATGACTCACCTTGAA 0.438000 16 33 0 0 0.000422831 0 0 PCDH18 54510 broad.mit.edu 37 4 138450971 138450971 + Missense_Mutation SNP C C A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:138450971C>A ENST00000344876.4 - 1 2658 c.2272G>T c.(2272-2274)Gac>Tac p.D758Y PCDH18_ENST00000507846.1_Missense_Mutation_p.D538Y|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.D758Y NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 758 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AATGTGATGTCCCCTTTGTGA 0.498000 20 30 8.10497e-08 1.22993e-06 0.000175454 1 0 LY9 4063 broad.mit.edu 37 1 160769865 160769865 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:160769865C>T ENST00000263285.5 + 2 477 c.447C>T c.(445-447)ttC>ttT p.F149F LY9_ENST00000368039.2_Silent_p.F149F|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Silent_p.F109F|LY9_ENST00000341032.4_Silent_p.F149F|LY9_ENST00000368040.1_5'UTR NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 149 Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TCACCCTGTTCGTCTATGGTG 0.373000 65 36 0 0 0.000147903 0 0 OR13D1 286365 broad.mit.edu 37 9 107457355 107457355 + Missense_Mutation SNP A A T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:107457355A>T ENST00000318763.5 + 1 696 c.653A>T c.(652-654)aAa>aTa p.K218I NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 218 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 GCCCTTCTAAAACTTGTTTGT 0.363000 37 71 0 0 0.000319135 0 0 PPP2R5A 5525 broad.mit.edu 37 1 212520745 212520745 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:212520745G>A ENST00000261461.2 + 6 1335 c.761G>A c.(760-762)gGa>gAa p.G254E PPP2R5A_ENST00000537030.3_Missense_Mutation_p.G197E NM_006243.3 NP_006234.1 Q15172 2A5A_HUMAN protein phosphatase 2, regulatory subunit B', alpha 254 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) GAAATATTAGGAAGGTAGGTC 0.269000 6 106 0 0 3.59834e-05 0 0 SERPINI1 5274 broad.mit.edu 37 3 167510377 167510377 + Splice_Site SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:167510377G>A ENST00000295777.5 + 4 912 c.e4-1 SERPINI1_ENST00000446050.2_Splice_Site NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 TTCCTAAATAGATCTGGTGAA 0.398000 20 27 0 0 0.000229342 0 0 TG 7038 broad.mit.edu 37 8 133909963 133909963 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:133909963C>T ENST00000220616.4 + 12 3111 c.3071C>T c.(3070-3072)tCg>tTg p.S1024L TG_ENST00000377869.1_Missense_Mutation_p.S1024L NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1024 Thyroglobulin type-1 8. 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) CTTCTGCGGTCGGGCCCCTAC 0.582000 17 60 0 0 7.07596e-05 0 0 C20orf26 26074 broad.mit.edu 37 20 20037317 20037317 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr20:20037317C>T ENST00000245957.5 + 2 96 c.20C>T c.(19-21)cCa>cTa p.P7L C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.P7L|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.P7L NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 7 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CTCACTTCTCCAAGAGGAAAG 0.358000 31 57 0 0 0.000109025 0 0 CYYR1 116159 broad.mit.edu 37 21 27840930 27840930 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr21:27840930C>T ENST00000299340.4 - 4 698 c.355G>A c.(355-357)Gac>Aac p.D119N AP001596.6_ENST00000429340.1_RNA|AP001596.6_ENST00000444306.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000421771.1_RNA|AP001597.1_ENST00000357401.3_RNA|AP001597.1_ENST00000414486.1_RNA NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 119 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 ATCTCGTGGTCGTGACCGTAG 0.532000 19 34 0 0 0.000229342 0 0 FUT9 10690 broad.mit.edu 37 6 96651110 96651110 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:96651110C>T ENST00000302103.5 + 3 405 c.79C>T c.(79-81)Ctc>Ttc p.L27F NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 27 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) GGCATGTCTTCTCATTTACAT 0.383000 34 27 0 0 0.000491102 0 0 CAMTA1 23261 broad.mit.edu 37 1 7798518 7798518 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:7798518C>T ENST00000303635.7 + 16 4365 c.4158C>T c.(4156-4158)tgC>tgT p.C1386C CAMTA1_ENST00000439411.2_Silent_p.C1386C NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1386 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.C1386C(2) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) ATGAAGAATGCGGCCAGCCCA 0.522000 T WWTR1 epitheliod hemangioendothelioma 14 9 0 0 0.000219431 0 0 DNAH9 1770 broad.mit.edu 37 17 11738075 11738075 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr17:11738075G>A ENST00000262442.3 + 49 9435 c.9367G>A c.(9367-9369)Gcc>Acc p.A3123T DNAH9_ENST00000454412.2_Missense_Mutation_p.A3123T NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 3123 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) CAGAGAGAAAGCCATGGCAGA 0.527000 7 16 0 0 8.12818e-05 0 0 LILRB1 10859 broad.mit.edu 37 19 55143588 55143588 + Silent SNP G G T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:55143588G>T ENST00000396331.1 + 6 918 c.561G>T c.(559-561)gtG>gtT p.V187V LILRB1_ENST00000396332.4_Silent_p.V187V|LILRB1_ENST00000396327.3_Silent_p.V187V|LILRB1_ENST00000427581.2_Silent_p.V223V|LILRB1_ENST00000324602.7_Silent_p.V187V|LILRB1_ENST00000434867.2_Silent_p.V187V|LILRB1_ENST00000448689.1_Silent_p.V187V|LILRB1_ENST00000418536.2_Silent_p.V187V|LILRB1_ENST00000396315.1_Silent_p.V187V|LILRB1_ENST00000396317.1_Silent_p.V187V|LILRB1_ENST00000396321.2_Silent_p.V187V NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 187 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TGGGCCCCGTGAGCCCGAGTC 0.587000 HNSCC(37;0.09) 21 49 1.10923e-09 1.68774e-08 0.000375601 1 0 KLC2 64837 broad.mit.edu 37 11 66030338 66030338 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:66030338C>T ENST00000394065.2 + 3 1184 c.166C>T c.(166-168)Ccg>Tcg p.P56S KLC2_ENST00000394066.2_Missense_Mutation_p.P118S|KLC2_ENST00000394067.2_Missense_Mutation_p.P195S|KLC2_ENST00000394078.1_Missense_Mutation_p.P195S|KLC2_ENST00000316924.5_Missense_Mutation_p.P195S|KLC2_ENST00000421552.1_Missense_Mutation_p.P118S|KLC2_ENST00000417856.1_Missense_Mutation_p.P195S Q9H0B6 KLC2_HUMAN kinesin light chain 2 195 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 CTACGAGATCCCGGCCCGGCT 0.637000 15 42 0 0 0.000566183 0 0 COL22A1 169044 broad.mit.edu 37 8 139809090 139809090 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:139809090G>A ENST00000303045.6 - 12 2014 c.1568C>T c.(1567-1569)cCt>cTt p.P523L COL22A1_ENST00000435777.1_Missense_Mutation_p.P523L NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 523 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTGGCCAAAAGGTCCTATGCC 0.463000 HNSCC(7;0.00092) 160 98 0 0 0.000147903 0 0 SETX 23064 broad.mit.edu 37 9 135202598 135202598 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:135202598C>T ENST00000372169.2 - 10 4569 c.4387G>A c.(4387-4389)Gac>Aac p.D1463N SETX_ENST00000393220.1_Missense_Mutation_p.D1463N|SETX_ENST00000224140.5_Missense_Mutation_p.D1463N Q7Z333 SETX_HUMAN senataxin 1463 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) CCCAGAGGGTCTTCTGAAGTG 0.458000 32 70 0 0 0.00058488 0 0 CPB1 1360 broad.mit.edu 37 3 148563299 148563299 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:148563299C>T ENST00000491148.1 + 10 1201 c.867C>T c.(865-867)ttC>ttT p.F289F CPB1_ENST00000282957.4_Silent_p.F289F P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 289 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TGGCTGATTTCATCCGCAACA 0.463000 34 52 0 0 0.00058488 0 0 SH3TC2 79628 broad.mit.edu 37 5 148389867 148389867 + Missense_Mutation SNP G G T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:148389867G>T ENST00000538184.1 - 10 2822 c.1934C>A c.(1933-1935)aCc>aAc p.T645N SH3TC2_ENST00000512049.1_Missense_Mutation_p.T1091N|SH3TC2_ENST00000515425.1_Missense_Mutation_p.T1098N Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 1098 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGTGGCGGGTCCCATTGAA 0.552000 24 18 5.77227e-19 8.94937e-18 0.000227799 1 0 KCNB2 9312 broad.mit.edu 37 8 73850232 73850232 + Missense_Mutation SNP A A T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:73850232A>T ENST00000523207.1 + 3 3230 c.2642A>T c.(2641-2643)gAa>gTa p.E881V NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 881 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AGTAGTCAAGAAGGGTGCAAG 0.488000 45 40 0 0 0.000125731 0 0 TPH2 121278 broad.mit.edu 37 12 72335485 72335485 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:72335485G>A ENST00000333850.3 + 2 368 c.227G>A c.(226-228)gGa>gAa p.G76E TPH2_ENST00000546576.1_3'UTR NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 76 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) GAAGTTGGTGGATTGGTAAAA 0.418000 21 54 0 0 0.000295444 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518814 113518814 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:113518814C>T ENST00000284601.3 - 4 2401 c.2333G>A c.(2332-2334)gGg>gAg p.G778E NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 778 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ATCATTTCTCCCTTCATGTGG 0.388000 31 59 0 0 0.000491102 0 0 CACNG3 10368 broad.mit.edu 37 16 24358083 24358083 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr16:24358083C>T ENST00000005284.3 + 2 1442 c.240C>T c.(238-240)atC>atT p.I80I NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 80 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) GCAAGAAAATCGATCACTTCC 0.582000 14 9 0 0 0.000175454 0 0 DSC1 1823 broad.mit.edu 37 18 28722082 28722082 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr18:28722082C>T ENST00000257197.3 - 9 1401 c.1140G>A c.(1138-1140)caG>caA p.Q380Q RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.Q380Q NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 380 Cadherin 3. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTGGCAAATCCTGATCCTGTA 0.343000 28 53 0 0 0.000227799 0 0 EMC1 23065 broad.mit.edu 37 1 19546091 19546091 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:19546091G>A ENST00000477853.1 - 22 2816 c.2774C>T c.(2773-2775)gCt>gTt p.A925V RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Missense_Mutation_p.A924V|EMC1_ENST00000480380.1_5'UTR|EMC1_ENST00000375208.3_Missense_Mutation_p.A903V NM_001271428.1|NM_015047.1 NP_001258357.1|NP_055862.1 ER membrane protein complex subunit 1 ACCCGAGGGAGCTGTGTAGAT 0.463000 23 19 0 0 0.000375601 0 0 PNMA3 29944 broad.mit.edu 37 X 152226735 152226735 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:152226735G>A ENST00000447306.1 + 2 1659 c.1323G>A c.(1321-1323)caG>caA p.Q441Q PNMA3_ENST00000370265.4_Intron|PNMA3_ENST00000370264.4_Silent_p.Q441Q NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 441 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) AGAAGAAACAGGCTGCAGTTG 0.547000 32 51 0 0 0.000109025 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967386 41967386 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:41967386G>A ENST00000298919.7 + 10 2413 c.2025G>A c.(2023-2025)atG>atA p.M675I PDZRN4_ENST00000539469.2_Missense_Mutation_p.M677I|PDZRN4_ENST00000402685.2_Missense_Mutation_p.M935I Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 935 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TGAGCGAGATGAAAATGGGGC 0.547000 11 27 0 0 3.86212e-05 0 0 IGHG2 3501 broad.mit.edu 37 14 106110413 106110413 + RNA SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:106110413G>A ENST00000390545.2 - 0 322 ACCTGGGCACGGTGGGCACTC 0.612000 33 91 0 0 0.000191422 0 0 VPS13D 55187 broad.mit.edu 37 1 12364652 12364652 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:12364652C>T ENST00000358136.3 + 26 6436 c.6306C>T c.(6304-6306)tcC>tcT p.S2102S VPS13D_ENST00000356315.4_Silent_p.S2102S NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2102 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GAACCCATTCCCAGGGGCAGT 0.567000 15 11 0 0 0.000219431 0 0 TTN 7273 broad.mit.edu 37 2 179571203 179571203 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:179571203C>T ENST00000589042.1 - 102 29622 c.29398G>A c.(29398-29400)Gat>Aat p.D9800N TTN_ENST00000342992.6_Missense_Mutation_p.D8556N|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D9483N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9483 Ig-like 79. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTCTAAGATCGCCTTCAATT 0.413000 13 15 0 0 0.00010058 0 0 GAPVD1 26130 broad.mit.edu 37 9 128064945 128064945 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:128064945C>T ENST00000470056.1 + 3 1029 c.869C>T c.(868-870)aCc>aTc p.T290I GAPVD1_ENST00000394083.2_Missense_Mutation_p.T290I|GAPVD1_ENST00000312123.9_Missense_Mutation_p.T290I|GAPVD1_ENST00000297933.6_Missense_Mutation_p.T290I|GAPVD1_ENST00000265956.4_Missense_Mutation_p.T290I|GAPVD1_ENST00000394104.2_Missense_Mutation_p.T290I|GAPVD1_ENST00000394105.2_Missense_Mutation_p.T290I|GAPVD1_ENST00000394084.1_Missense_Mutation_p.T290I|GAPVD1_ENST00000495955.1_Missense_Mutation_p.T290I Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 290 Ras-GAP. endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 ATGTACAAAACCCTCTCCTGT 0.433000 31 61 0 0 0.000409698 0 0 CPVL 54504 broad.mit.edu 37 7 29135786 29135786 + Silent SNP C C A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:29135786C>A ENST00000409850.1 - 8 982 c.336G>T c.(334-336)ccG>ccT p.P112P CPVL_ENST00000265394.5_Silent_p.P112P|CPVL_ENST00000396276.3_Silent_p.P112P|CPVL_ENST00000488891.2_5'UTR Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 112 proteolysis protein binding|serine-type carboxypeptidase activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 ATGAACCTCCCGGCCCACCCT 0.463000 5 87 0.000602214 0.00899548 0.000602214 1 0 PCDHB7 56129 broad.mit.edu 37 5 140554261 140554261 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:140554261C>T ENST00000231137.3 + 1 2019 c.1845C>T c.(1843-1845)ttC>ttT p.F615F NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 615 Cadherin 6. 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) CCGGGCTATTCGGCGTGTGGG 0.682000 27 38 0 0 0.000279167 0 0 SMTNL1 219537 broad.mit.edu 37 11 57314011 57314011 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:57314011G>A ENST00000457912.1 + 7 1280 c.1280G>A c.(1279-1281)aGt>aAt p.S427N SMTNL1_ENST00000399154.2_Missense_Mutation_p.S372N|SMTNL1_ENST00000527972.1_Missense_Mutation_p.S409N E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 409 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 AGCTGGAGCAGTGGTATGGCC 0.602000 20 32 0 0 9.22233e-05 0 0 KNTC1 9735 broad.mit.edu 37 12 123098305 123098305 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:123098305C>T ENST00000333479.7 + 55 6051 c.5874C>T c.(5872-5874)tcC>tcT p.S1958S KNTC1_ENST00000436959.3_5'UTR|KNTC1_ENST00000537348.1_Silent_p.S383S|KNTC1_ENST00000450485.2_Silent_p.S883S NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1958 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) GCCACGAGTCCATGGTAGGTA 0.433000 12 16 0 0 0.000219431 0 0 MYLK 4638 broad.mit.edu 37 3 123452795 123452795 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:123452795C>T ENST00000360772.3 - 11 1426 c.1048G>A c.(1048-1050)Gca>Aca p.A350T MYLK_ENST00000475616.1_Missense_Mutation_p.A350T|MYLK_ENST00000360304.3_Missense_Mutation_p.A350T|MYLK_ENST00000359169.1_Missense_Mutation_p.A350T|MYLK_ENST00000346322.5_Missense_Mutation_p.A350T Q15746 MYLK_HUMAN myosin light chain kinase 350 aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.A350T(1)|p.A350P(1)|p.A350S(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TGAACTCTTGCGGCCTGCAGG 0.632000 21 77 0 0 0.00047179 0 0 KAT6B 23522 broad.mit.edu 37 10 76788641 76788641 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:76788641G>A ENST00000287239.4 + 18 4548 c.4059G>A c.(4057-4059)gaG>gaA p.E1353E KAT6B_ENST00000372724.1_Silent_p.E1061E|KAT6B_ENST00000372714.1_Silent_p.E1061E|KAT6B_ENST00000372711.1_Silent_p.E1170E|KAT6B_ENST00000372725.1_Silent_p.E1061E NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1353 Poly-Glu. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding CTgaggaagaggaagaggagg 0.453000 7 7 0 0 8.12818e-05 0 0 GRID1 2894 broad.mit.edu 37 10 87362307 87362307 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:87362307C>T ENST00000327946.7 - 16 2838 c.2753G>A c.(2752-2754)cGg>cAg p.R918Q GRID1_ENST00000536331.1_Missense_Mutation_p.R489Q|GRID1_ENST00000552278.2_5'UTR NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 918 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CTGGTACTCCCGTGTCGGCTC 0.617000 Multiple Myeloma(13;0.14) 6 15 0 0 3.59834e-05 0 0 PDHA1 5160 broad.mit.edu 37 X 19373555 19373555 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:19373555C>T ENST00000379806.5 + 8 951 c.806C>T c.(805-807)aCg>aTg p.T269M PDHA1_ENST00000540249.1_Missense_Mutation_p.T200M|PDHA1_ENST00000422285.2_Missense_Mutation_p.T231M|PDHA1_ENST00000545074.1_Missense_Mutation_p.T238M NM_001173454.1 NP_001166925.1 P08559 ODPA_HUMAN pyruvate dehydrogenase (lipoamide) alpha 1 231 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1) 18 Hepatocellular(33;0.183) NADH(DB00157) GGAATGGGAACGTCTGTTGAG 0.493000 46 108 0 0 0.000509022 0 0 NUP210 23225 broad.mit.edu 37 3 13363732 13363732 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:13363732C>T ENST00000254508.5 - 35 4958 c.4876G>A c.(4876-4878)Gat>Aat p.D1626N NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1626 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GTGAACACATCTTGAGATGGG 0.542000 34 63 0 0 0.000109025 0 0 TRPV6 55503 broad.mit.edu 37 7 142583185 142583185 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:142583185C>T ENST00000359396.3 - 1 322 c.77G>A c.(76-78)cGg>cAg p.R26Q RP11-114L10.2_ENST00000438839.1_RNA NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 26 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CCAGGACTCCCGTCTCTGGAA 0.612000 43 48 0 0 0.000509022 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420920 55420920 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:55420920G>A ENST00000242994.3 + 2 1075 c.697G>A c.(697-699)Gga>Aga p.G233R NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 233 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 CAAGAGTTTGGGAGAATCGTC 0.517000 19 21 0 0 0.000132079 0 0 MUC16 94025 broad.mit.edu 37 19 9086595 9086595 + Silent SNP A A G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:9086595A>G ENST00000397910.4 - 1 5423 c.5220T>C c.(5218-5220)gcT>gcC p.A1740A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1740 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 GGCTTCCTTCAGCATAGCTGG 0.498000 26 45 0 0 9.22233e-05 0 0 IFNA7 3444 broad.mit.edu 37 9 21201733 21201733 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:21201733C>T ENST00000239347.3 - 1 471 c.432G>A c.(430-432)agG>agA p.R144R NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 144 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GGAAGTATTTCCTCACAGCCA 0.448000 74 156 0 0 0.000147903 0 0 EXOSC1 51013 broad.mit.edu 37 10 99196960 99196960 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:99196960G>A ENST00000370902.3 - 7 500 c.469C>T c.(469-471)Cac>Tac p.H157Y EXOSC1_ENST00000370885.4_Missense_Mutation_p.H132Y|EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000485122.2_Intron|EXOSC1_ENST00000370886.5_Missense_Mutation_p.H140Y NM_016046.3 NP_057130.1 Q9Y3B2 EXOS1_HUMAN exosome component 1 157 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus protein binding|RNA binding breast(1)|endometrium(1)|lung(5) 7 Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965) all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202) GACTCACTGTGGGCTACCACC 0.488000 34 62 0 0 0.000319135 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178555107 178555107 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:178555107C>T ENST00000251582.7 - 17 2571 c.2470G>A c.(2470-2472)Gga>Aga p.G824R NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 824 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CGGGTGTCTCCCACCGGGATG 0.577000 9 16 0 0 0.000442599 0 0 CERCAM 51148 broad.mit.edu 37 9 131198057 131198057 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:131198057C>T ENST00000372842.1 + 13 4571 c.1427C>T c.(1426-1428)cCa>cTa p.P476L CERCAM_ENST00000372838.4_Missense_Mutation_p.P554L Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 554 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 ACATCCTCTCCATGGGATGAT 0.687000 10 10 0 0 0.00010058 0 0 KIAA0319 9856 broad.mit.edu 37 6 24576704 24576704 + Silent SNP G G T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:24576704G>T ENST00000535378.1 - 11 2241 c.1599C>A c.(1597-1599)ccC>ccA p.P533P KIAA0319_ENST00000378214.3_Silent_p.P542P|KIAA0319_ENST00000543707.1_Silent_p.P542P|KIAA0319_ENST00000430948.2_Silent_p.P497P|KIAA0319_ENST00000537886.1_Silent_p.P542P NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 542 PKD 3. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 TGGAGTTTTGGGGCAAAGTTA 0.498000 12 543 0.00010058 0.00152227 0.00010058 1 0 XPO6 23214 broad.mit.edu 37 16 28112887 28112887 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr16:28112887G>A ENST00000304658.5 - 23 3668 c.3168C>T c.(3166-3168)gtC>gtT p.V1056V XPO6_ENST00000565698.1_Silent_p.V1042V NM_015171.2 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 1056 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 CATCAAAGTCGACTGAGGCCA 0.532000 15 18 0 0 0.000308642 0 0 VSTM4 196740 broad.mit.edu 37 10 50315832 50315832 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:50315832C>T ENST00000332853.3 - 2 287 c.264G>A c.(262-264)ggG>ggA p.G88G VSTM4_ENST00000298454.3_Silent_p.G88G NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 88 Ig-like. integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 GGCTGAAATTCCCATAGTACT 0.627000 12 30 0 0 0.00010058 0 0 RAI1 10743 broad.mit.edu 37 17 17699344 17699344 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr17:17699344G>A ENST00000353383.1 + 3 3551 c.3082G>A c.(3082-3084)Gaa>Aaa p.E1028K RAI1_ENST00000261641.6_Missense_Mutation_p.E1028K NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1028 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) CTTGCTCCCTGAATCCTGCAC 0.682000 3 0 0 0 6.4e-05 0 0 PRRC2B 84726 broad.mit.edu 37 9 134319589 134319589 + Missense_Mutation SNP C C G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:134319589C>G ENST00000357304.4 + 5 542 c.487C>G c.(487-489)Cga>Gga p.R163G PRRC2B_ENST00000405995.1_Missense_Mutation_p.R163G|PRRC2B_ENST00000458550.1_Missense_Mutation_p.R163G NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 163 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 GGGCTCAAGCCGACTGTTATC 0.537000 7 16 0 0 0.000274275 0 0 CNTN5 53942 broad.mit.edu 37 11 100064354 100064354 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:100064354G>A ENST00000524871.1 + 15 2133 c.1843G>A c.(1843-1845)Gat>Aat p.D615N CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000279463.3_Missense_Mutation_p.D615N|CNTN5_ENST00000527185.1_Missense_Mutation_p.D615N|CNTN5_ENST00000418526.2_Missense_Mutation_p.D541N|CNTN5_ENST00000528682.1_Missense_Mutation_p.D615N NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 615 Ig-like C2-type 6. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) ACAGCCTATTGATTTCGAGGA 0.368000 37 53 0 0 0.000125731 0 0 KIAA0355 9710 broad.mit.edu 37 19 34832982 34832982 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:34832982C>T ENST00000299505.6 + 10 3016 c.2143C>T c.(2143-2145)Ccg>Tcg p.P715S NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 715 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) GACACCCCAGCCGGGACTGGC 0.647000 25 46 0 0 0.000375601 0 0 SPRED3 399473 broad.mit.edu 37 19 38881013 38881013 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:38881013G>A ENST00000338502.4 + 1 174 c.71G>A c.(70-72)gGg>gAg p.G24E SPRED3_ENST00000586301.1_Missense_Mutation_p.G24E|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_Intron NM_001042522.1 NP_001035987.1 Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 24 WH1. multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GTGGGGGGCGGGGGCCTCAGC 0.726000 5 13 0 0 3.59834e-05 0 0 ASXL3 80816 broad.mit.edu 37 18 31251810 31251810 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr18:31251810G>A ENST00000269197.5 + 7 695 c.695G>A c.(694-696)cGa>cAa p.R232Q NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 232 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CACTTAAAACGATTAAAAAAG 0.313000 9 24 0 0 0.000442599 0 0 STXBP5L 9515 broad.mit.edu 37 3 121100155 121100155 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:121100155C>T ENST00000273666.6 + 23 2706 c.2435C>T c.(2434-2436)tCc>tTc p.S812F STXBP5L_ENST00000497029.1_Missense_Mutation_p.S786F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S812F|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S788F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S788F NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 812 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) CGAGAAAATTCCTATAATCGT 0.284000 37 66 0 0 0.000191422 0 0 TENM3 55714 broad.mit.edu 37 4 183714789 183714789 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:183714789G>A ENST00000511685.1 + 26 7087 c.6964G>A c.(6964-6966)Ggg>Agg p.G2322R TENM3_ENST00000406950.2_Missense_Mutation_p.G2322R teneurin transmembrane protein 3 CACTGCATATGGGGAAATCTA 0.413000 18 25 0 0 7.07596e-05 0 0 ITGAX 3687 broad.mit.edu 37 16 31382970 31382970 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr16:31382970G>A ENST00000268296.4 + 17 2146 c.2025G>A c.(2023-2025)gtG>gtA p.V675V ITGAX_ENST00000562522.1_Silent_p.V675V NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 675 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 AAAGCTCTGTGACCTTGGACC 0.637000 26 34 0 0 0.000227799 0 0 NAALAD2 10003 broad.mit.edu 37 11 89891347 89891347 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:89891347G>A ENST00000534061.1 + 7 1061 c.831G>A c.(829-831)gtG>gtA p.V277V NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000321955.4_Silent_p.V277V|NAALAD2_ENST00000375944.3_Intron NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 277 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) AAGAAGGAGTGGGAATCCCCC 0.313000 53 112 0 0 0.000147903 0 0 CCDC28A 25901 broad.mit.edu 37 6 139113921 139113921 + Missense_Mutation SNP C C G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:139113921C>G ENST00000332797.6 + 6 961 c.806C>G c.(805-807)cCa>cGa p.P269R NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 269 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) CAAGATGTTCCAAATACTTCT 0.338000 24 31 0 0 0.000147802 0 0 MPDZ 8777 broad.mit.edu 37 9 13186385 13186385 + Splice_Site SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:13186385G>A ENST00000319217.7 - 18 2612 c.2364_splice c.e18-1 p.L789_splice MPDZ_ENST00000447879.1_Splice_Site_p.L789_splice|MPDZ_ENST00000541718.1_Splice_Site_p.L789_splice|MPDZ_ENST00000536827.1_Splice_Site_p.L789_splice|MPDZ_ENST00000546205.1_Splice_Site_p.L789_splice|MPDZ_ENST00000381015.4_Splice_Site_p.L789_splice|MPDZ_ENST00000381022.2_Splice_Site_p.L789_splice NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 789 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) TCTGGTGAAAGCTGCAGGGAA 0.458000 5 4 0 0 0.000602214 0 0 LRBA 987 broad.mit.edu 37 4 151199140 151199140 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:151199140C>T ENST00000535741.1 - 56 8806 c.8333G>A c.(8332-8334)cGa>cAa p.R2778Q LRBA_ENST00000357115.3_Missense_Mutation_p.R2789Q|LRBA_ENST00000510413.1_Missense_Mutation_p.R2777Q|LRBA_ENST00000503716.1_5'UTR P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 2789 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) CTGCCCATCTCGGCTCAGCTG 0.542000 11 18 0 0 0.00010058 0 0 MTA3 57504 broad.mit.edu 37 2 42931360 42931360 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:42931360C>T ENST00000405592.1 + 13 1551 c.881C>T c.(880-882)tCc>tTc p.S294F MTA3_ENST00000406652.1_Missense_Mutation_p.S294F|MTA3_ENST00000406911.1_Missense_Mutation_p.S350F|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000405094.1_Missense_Mutation_p.S351F|MTA3_ENST00000407270.3_Missense_Mutation_p.S351F Q9BTC8 MTA3_HUMAN metastasis associated 1 family, member 3 351 SANT. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1) 15 AACCAAATATCCACTAGTAAT 0.418000 13 18 0 0 0.00010058 0 0 TTN 7273 broad.mit.edu 37 2 179622489 179622489 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:179622489C>T ENST00000589042.1 - 45 10682 c.10458G>A c.(10456-10458)gcG>gcA p.A3486A TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Silent_p.A3440A|TTN_ENST00000360870.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3170 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.A3440A(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CAGAAACCCTCGCATGAAATC 0.478000 22 77 0 0 0.00047179 0 0 DOCK3 1795 broad.mit.edu 37 3 51418834 51418834 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:51418834C>T ENST00000266037.9 + 53 5960 c.5937C>T c.(5935-5937)caC>caT p.H1979H NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 1979 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AGCCCTACCACCCCCGCCTGC 0.687000 7 7 0 0 0.000157383 0 0 C4BPA 722 broad.mit.edu 37 1 207307851 207307851 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:207307851C>T ENST00000367070.3 + 9 1381 c.1187C>T c.(1186-1188)tCa>tTa p.S396L NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 396 Sushi 6. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 GATGAGATTTCATTTTCATGT 0.423000 75 37 0 0 0.000147903 0 0 OR10X1 128367 broad.mit.edu 37 1 158549393 158549393 + Missense_Mutation SNP T T A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:158549393T>A ENST00000368150.1 - 1 296 c.297A>T c.(295-297)gaA>gaT p.E99D NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) CCAGTAGATCTTCCAGCATCT 0.498000 52 20 0 0 0.000147903 0 0 WIPF1 7456 broad.mit.edu 37 2 175446111 175446111 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:175446111G>A ENST00000392547.2 - 3 207 c.108C>T c.(106-108)ctC>ctT p.L36L WIPF1_ENST00000392546.2_Silent_p.L36L|WIPF1_ENST00000409415.3_Silent_p.L36L|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Silent_p.L36L|WIPF1_ENST00000272746.5_Silent_p.L36L|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409891.1_Silent_p.L36L|WIPF1_ENST00000410117.1_Silent_p.L36L NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 36 WH2. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 TATCAGAAAGGAGAGCATTTC 0.428000 38 88 0 0 0.000132358 0 0 ALAD 210 broad.mit.edu 37 9 116153860 116153860 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:116153860C>T ENST00000409155.3 - 4 404 c.208G>A c.(208-210)Gaa>Aaa p.E70K ALAD_ENST00000277315.5_Missense_Mutation_p.E53K|ALAD_ENST00000482001.1_5'UTR NM_000031.5 NP_000022.3 P13716 HEM2_HUMAN aminolevulinate dehydratase 70 heme biosynthetic process|protein homooligomerization cytosol identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1) 9 Aminolevulinic acid(DB00855) AGGCCCTCTTCCACCAAGGGC 0.587000 13 27 0 0 7.07596e-05 0 0 ATG2A 23130 broad.mit.edu 37 11 64662526 64662526 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:64662526G>A ENST00000421419.2 - 41 5856 c.5742C>T c.(5740-5742)ctC>ctT p.L1914L ATG2A_ENST00000377264.3_Silent_p.L1912L Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1912 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GCATGCCCCCGAGCAGGCTGG 0.706000 25 32 0 0 0.000132358 0 0 GLCCI1 113263 broad.mit.edu 37 7 8125886 8125886 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:8125886C>T ENST00000223145.5 + 8 1919 c.1362C>T c.(1360-1362)atC>atT p.I454I NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 454 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) TTAATTTCATCCCAACCGGAT 0.438000 84 182 0 0 0.000147903 0 0 CYP7B1 9420 broad.mit.edu 37 8 65509349 65509349 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:65509349C>T ENST00000310193.3 - 6 1544 c.1371G>A c.(1369-1371)atG>atA p.M457I CYP7B1_ENST00000523954.1_Intron NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 457 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) GTTTTATTTCCATAAGTGCAA 0.353000 19 86 0 0 9.7654e-05 0 0 C4orf50 389197 broad.mit.edu 37 4 5990073 5990073 + Splice_Site SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:5990073C>T ENST00000531445.1 - 1 1472 c.e1+1 C4orf50_ENST00000324058.5_Splice_Site Q6ZRC1 CD050_HUMAN chromosome 4 open reading frame 50 breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 ACCCAACCTACCATGGGGCCA 0.537000 9 8 0 0 0.000442599 0 0 BTBD7 55727 broad.mit.edu 37 14 93755013 93755013 + Missense_Mutation SNP A A G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:93755013A>G ENST00000555525.1 - 3 1332 c.1226T>C c.(1225-1227)tTt>tCt p.F409S BTBD7_ENST00000334746.5_Intron|BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Silent_p.L401L Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 0 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) agctgtttgaaagctctgctg 0.423000 40 87 0 0 0.000125731 0 0 ZNF556 80032 broad.mit.edu 37 19 2877665 2877665 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:2877665G>A ENST00000586426.1 + 4 793 c.706G>A c.(706-708)Ggg>Agg p.G236R ZNF556_ENST00000307635.2_Missense_Mutation_p.G237R Q9HAH1 ZN556_HUMAN zinc finger protein 556 237 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 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) TGGGCAGTGTGGGAAAGGCTT 0.522000 8 22 0 0 0.000442599 0 0 COL27A1 85301 broad.mit.edu 37 9 116945341 116945341 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:116945341C>T ENST00000356083.3 + 5 2393 c.2002C>T c.(2002-2004)Cct>Tct p.P668S NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 668 Collagen-like 1.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 TCTCCCCGGCCCTCCTGGAGC 0.552000 30 39 0 0 0.000109025 0 0 DARS2 55157 broad.mit.edu 37 1 173799876 173799876 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:173799876C>T ENST00000361951.4 + 4 1100 c.373C>T c.(373-375)Cgt>Tgt p.R125C DARS2_ENST00000239457.5_5'UTR NM_018122.4 NP_060592.2 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 125 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 30 L-Aspartic Acid(DB00128) AGTCATTTCCCGTCCTGCAGG 0.453000 10 110 0 0 6.40141e-05 0 0 GPRC5A 9052 broad.mit.edu 37 12 13061916 13061916 + Missense_Mutation SNP C C T rs150619249 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:13061916C>T ENST00000014914.5 + 2 1623 c.733C>T c.(733-735)Ctc>Ttc p.L245F GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 245 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) TGACACCATCCTCAGCTCCGC 0.552000 18 23 0 0 9.7654e-05 0 0 HPGD 3248 broad.mit.edu 37 4 175443155 175443155 + Missense_Mutation SNP A A C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:175443155A>C ENST00000296522.6 - 2 603 c.157T>G c.(157-159)Ttt>Gtt p.F53V HPGD_ENST00000296521.7_Missense_Mutation_p.F53V|HPGD_ENST00000542498.1_Missense_Mutation_p.F53V|HPGD_ENST00000510901.1_5'UTR|HPGD_ENST00000504433.1_Missense_Mutation_p.F53V|HPGD_ENST00000422112.2_Missense_Mutation_p.F53V|HPGD_ENST00000541923.1_5'UTR NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1 NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1 P15428 PGDH_HUMAN hydroxyprostaglandin dehydrogenase 15-(NAD) 53 female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway cytosol|nucleus 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity kidney(1)|lung(3)|prostate(3) 7 Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253) NADH(DB00157) TGAGGTTCAAACTGCTCATCC 0.522000 24 89 0 0 0.000117367 0 0 TRMT2B 79979 broad.mit.edu 37 X 100292915 100292915 + Silent SNP A A T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:100292915A>T ENST00000372936.3 - 5 1201 c.429T>A c.(427-429)atT>atA p.I143I TRMT2B_ENST00000338687.7_Intron|TRMT2B_ENST00000545398.1_Silent_p.I143I|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372935.1_Silent_p.I143I|TRMT2B_ENST00000372931.5_Silent_p.I143I|TRMT2B_ENST00000372939.1_Intron NM_024917.5 NP_079193.2 Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 143 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 CAGAGGGTATAATAGGATGGA 0.438000 122 155 0 0 0.000147903 0 0 TET1 80312 broad.mit.edu 37 10 70446152 70446152 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:70446152G>A ENST00000373644.4 + 11 5301 c.5092G>A c.(5092-5094)Gtt>Att p.V1698I NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1698 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CTCTTTGGGTGTTATTCCTCA 0.433000 34 57 0 0 0.000228196 0 0 LARP6 55323 broad.mit.edu 37 15 71125351 71125351 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr15:71125351G>A ENST00000299213.8 - 3 586 c.516C>T c.(514-516)ccC>ccT p.P172P NM_018357.2 NP_060827.2 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 172 HTH La-type RNA-binding. RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 19 ACAGTGGGACGGGGGTGGTCC 0.547000 6 25 0 0 3.59834e-05 0 0 PSAPL1 768239 broad.mit.edu 37 4 7435464 7435464 + Silent SNP G G A rs139203507 by1000genomes TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:7435464G>A ENST00000319098.4 - 1 1236 c.1143C>T c.(1141-1143)atC>atT p.I381I SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron NM_001085382.1 NP_001078851.1 Q6NUJ1 SAPL1_HUMAN prosaposin-like 1 (gene/pseudogene) 381 sphingolipid metabolic process extracellular region|lysosome lung(4) 4 GGGACGGCACGATGGCATAGG 0.607000 7 31 0 0 8.12818e-05 0 0 GIMAP1 170575 broad.mit.edu 37 7 150416143 150416143 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:150416143G>A ENST00000307194.5 + 2 148 c.8G>A c.(7-9)gGa>gAa p.G3E NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGCATGGGAGGAAGGAAGATG 0.413000 28 39 0 0 0.00058488 0 0 LCE3A 353142 broad.mit.edu 37 1 152595489 152595489 + Missense_Mutation SNP T T A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:152595489T>A ENST00000335674.1 - 1 90 c.91A>T c.(91-93)Agc>Tgc p.S31C NM_178431.1 NP_848518.1 Q5TA76 LCE3A_HUMAN late cornified envelope 3A 31 keratinization endometrium(1)|lung(5) 6 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGGGCACAGCTGGAGGAAGCT 0.652000 24 15 0 0 0.00047179 0 0 TRPM4 54795 broad.mit.edu 37 19 49693571 49693571 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:49693571C>T ENST00000252826.5 + 15 2252 c.2126C>T c.(2125-2127)aCc>aTc p.T709I TRPM4_ENST00000355712.5_Missense_Mutation_p.T355I|TRPM4_ENST00000427978.2_Missense_Mutation_p.T709I NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 709 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CGCCTCATCACCTTCAGGTCA 0.607000 22 38 0 0 0.000184323 0 0 KIAA0355 9710 broad.mit.edu 37 19 34832983 34832983 + Missense_Mutation SNP C C A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:34832983C>A ENST00000299505.6 + 10 3017 c.2144C>A c.(2143-2145)cCg>cAg p.P715Q NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 715 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) ACACCCCAGCCGGGACTGGCA 0.647000 25 49 5.35356e-11 8.18923e-10 0.000375601 1 0 ARHGEF17 9828 broad.mit.edu 37 11 73076882 73076882 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:73076882C>T ENST00000263674.3 + 20 6235 c.5885C>T c.(5884-5886)cCc>cTc p.P1962L NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1962 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CCACTCAGTCCCACAGGCCTC 0.662000 6 20 0 0 3.59834e-05 0 0 ENPEP 2028 broad.mit.edu 37 4 111470695 111470695 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:111470695C>T ENST00000265162.5 + 16 2579 c.2237C>T c.(2236-2238)tCc>tTc p.S746F NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 746 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TTACTCCGTTCCTCCGTGTTA 0.383000 31 25 0 0 0.000109025 0 0 OTOGL 283310 broad.mit.edu 37 12 80735762 80735762 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:80735762G>A ENST00000458043.2 + 43 5064 c.5058G>A c.(5056-5058)agG>agA p.R1686R OTOGL_ENST00000547103.1_Silent_p.R1674R NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 ATGATCTAAGGATGCAAAATG 0.318000 4 7 0 0 0.00024832 0 0 TGIF2 60436 broad.mit.edu 37 20 35219439 35219439 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr20:35219439C>T ENST00000373874.2 + 3 518 c.319C>T c.(319-321)Cgt>Tgt p.R107C RP5-977B1.11_ENST00000561134.1_RNA|TGIF2_ENST00000373872.4_Missense_Mutation_p.R107C|TGIF2-C20orf24_ENST00000558530.1_Intron NM_001199514.1|NM_001199515.1 NP_001186443.1|NP_001186444.1 Q9GZN2 TGIF2_HUMAN TGFB-induced factor homeobox 2 107 Repressive function. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) GGCCCTCCCCCGTGGCAGCAG 0.632000 32 74 0 0 0.000132358 0 0 ITGA2 3673 broad.mit.edu 37 5 52369055 52369055 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:52369055C>T ENST00000296585.5 + 20 2680 c.2537C>T c.(2536-2538)tCa>tTa p.S846L NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 846 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) GTTGATTTTTCAGAAAACTTG 0.373000 51 115 0 0 0.000147903 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39911623 39911623 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:39911623C>T ENST00000409794.3 + 14 2284 c.1434C>T c.(1432-1434)ggC>ggT p.G478G PLEKHG2_ENST00000378550.1_Silent_p.G478G|PLEKHG2_ENST00000458508.2_Silent_p.G419G|PLEKHG2_ENST00000425673.1_Intron|PLEKHG2_ENST00000409797.2_Silent_p.G478G NM_022835.2 NP_073746.2 Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 478 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TTCGCCGAGGCCGCAGGCAGT 0.667000 10 16 0 0 0.000442599 0 0 ITGA9 3680 broad.mit.edu 37 3 37565067 37565067 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:37565067C>T ENST00000264741.5 + 12 1548 c.1292C>T c.(1291-1293)tCg>tTg p.S431L ITGA9_ENST00000422441.1_Missense_Mutation_p.S431L NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 431 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CAGTCCATATCGGGAGGCATT 0.398000 42 40 0 0 0.000147903 0 0 GAS2 2620 broad.mit.edu 37 11 22833419 22833419 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:22833419G>A ENST00000454584.2 + 8 1104 c.799G>A c.(799-801)Gac>Aac p.D267N GAS2_ENST00000433790.1_Missense_Mutation_p.D267N|GAS2_ENST00000278187.3_Missense_Mutation_p.D267N NM_001143830.1 NP_001137302.1 O43903 GAS2_HUMAN growth arrest-specific 2 267 GAR. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 GTTGAAACACGACCCCTGCCG 0.448000 26 38 0 0 9.22233e-05 0 0 DCLK3 85443 broad.mit.edu 37 3 36779400 36779400 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:36779400G>A ENST00000416516.2 - 2 1241 c.751C>T c.(751-753)Cct>Tct p.P251S NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 251 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 TCTGTGACAGGAAGAACTTCC 0.577000 38 69 0 0 0.000228196 0 0 DOCK2 1794 broad.mit.edu 37 5 169097555 169097555 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:169097555C>T ENST00000256935.8 + 4 258 c.178C>T c.(178-180)Cct>Tct p.P60S NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 60 SH3. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGGCATTTTTCCTAAGTCATT 0.358000 30 62 0 0 0.000339439 0 0 LRRC10 376132 broad.mit.edu 37 12 70003788 70003788 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:70003788G>A ENST00000361484.3 - 1 1154 c.831C>T c.(829-831)tcC>tcT p.S277S NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 277 nucleus large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) AAGCTCCTCAGGAGTTGGTAG 0.557000 6 22 0 0 8.12818e-05 0 0 PRDM12 59335 broad.mit.edu 37 9 133553953 133553953 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:133553953G>A ENST00000253008.2 + 4 668 c.608G>A c.(607-609)gGa>gAa p.G203E NM_021619.2 NP_067632.2 Q9H4Q4 PRD12_HUMAN PR domain containing 12 203 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) GTGTGGTACGGAAACTCACAC 0.597000 22 39 0 0 9.22233e-05 0 0 DDR1 780 broad.mit.edu 37 6 30862422 30862422 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:30862422C>T ENST00000324771.8 + 13 2035 c.1487C>T c.(1486-1488)tCc>tTc p.S496F DDR1_ENST00000376570.4_Missense_Mutation_p.S496F|DDR1_ENST00000361741.4_Missense_Mutation_p.P200S|DDR1_ENST00000376569.3_Missense_Mutation_p.S496F|DDR1_ENST00000376575.3_Missense_Mutation_p.S496F|DDR1_ENST00000452441.1_Missense_Mutation_p.S496F|DDR1_ENST00000418800.2_Missense_Mutation_p.S496F|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000513240.1_Missense_Mutation_p.S496F|DDR1_ENST00000376568.3_Missense_Mutation_p.S496F|DDR1_ENST00000376567.2_Missense_Mutation_p.S496F|DDR1_ENST00000508312.1_Missense_Mutation_p.S514F|DDR1_ENST00000454612.2_Missense_Mutation_p.S496F Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 496 Gly/Pro-rich. S -> A (in a lung squamous cell carcinoma sample; somatic mutation). cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) CCGCCCCACTCCGCTCCCTGT 0.587000 22 67 0 0 0.000586117 0 0 ATRX 546 broad.mit.edu 37 X 76937757 76937757 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:76937757G>A ENST00000373344.5 - 9 3205 c.2991C>T c.(2989-2991)gaC>gaT p.D997D ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.D959D NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 997 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTTTCTTAAAGTCTGAAGGTT 0.343000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 45 127 0 0 0.000437636 0 0 MGAM 8972 broad.mit.edu 37 7 141752605 141752605 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:141752605C>T ENST00000475668.2 + 26 3034 c.2980C>T c.(2980-2982)Cct>Tct p.P994S MGAM_ENST00000549489.2_Missense_Mutation_p.P994S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 994 P-type 2. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TTCTGGAGTCCCTTTTTGCTA 0.418000 38 122 0 0 0.000125731 0 0 DNAJB8 165721 broad.mit.edu 37 3 128182017 128182017 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:128182017G>A ENST00000469083.1 - 2 2629 c.72C>T c.(70-72)cgC>cgT p.R24R DNAJB8_ENST00000319153.3_Silent_p.R24R Q8NHS0 DNJB8_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 8 24 J. protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) GGGCCAGCTTGCGGTAGGCTT 0.587000 35 63 0 0 0.000159656 0 0 WIPF1 7456 broad.mit.edu 37 2 175446110 175446110 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:175446110G>A ENST00000392547.2 - 3 208 c.109C>T c.(109-111)Ctt>Ttt p.L37F WIPF1_ENST00000392546.2_Missense_Mutation_p.L37F|WIPF1_ENST00000409415.3_Missense_Mutation_p.L37F|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.L37F|WIPF1_ENST00000272746.5_Missense_Mutation_p.L37F|AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.L37F|WIPF1_ENST00000410117.1_Missense_Mutation_p.L37F NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 37 WH2. actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 ATATCAGAAAGGAGAGCATTT 0.433000 38 90 0 0 0.000132358 0 0 LRIT2 340745 broad.mit.edu 37 10 85981769 85981769 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:85981769G>A ENST00000372113.4 - 3 1565 c.1560C>T c.(1558-1560)tcC>tcT p.S520S LRIT2_ENST00000538192.1_Silent_p.S530S NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 520 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 GTTCTCTAAAGGAGCCATCCT 0.597000 16 48 0 0 0.000422831 0 0 PHKA1 5255 broad.mit.edu 37 X 71819679 71819679 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:71819679G>A ENST00000373545.3 - 28 3371 c.2933C>T c.(2932-2934)tCa>tTa p.S978L PHKA1_ENST00000373542.4_Intron|PHKA1_ENST00000339490.3_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.S1037L|PHKA1_ENST00000541944.1_Intron P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 1024 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) AAAAGACGGTGACATCAAATC 0.338000 5 16 0 0 0.000157383 0 0 ERC2 26059 broad.mit.edu 37 3 56330067 56330067 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:56330067C>T ENST00000288221.6 - 3 1309 c.1054G>A c.(1054-1056)Gaa>Aaa p.E352K NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 352 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TGTATGTTTTCCTTCTCTTTC 0.413000 28 47 0 0 9.22233e-05 0 0 EPHB2 2048 broad.mit.edu 37 1 23232557 23232557 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:23232557G>A ENST00000400191.3 + 10 1861 c.1843G>A c.(1843-1845)Gaa>Aaa p.E615K EPHB2_ENST00000374627.1_Missense_Mutation_p.E610K|EPHB2_ENST00000374632.3_Missense_Mutation_p.E616K|EPHB2_ENST00000374630.3_Missense_Mutation_p.E615K NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 615 axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity p.E615K(2) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GTTTGCCAAGGAAATTGACAT 0.537000 20 15 0 0 0.000295444 0 0 CBX6 23466 broad.mit.edu 37 22 39263083 39263083 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr22:39263083G>A ENST00000407418.3 - 5 493 c.370C>T c.(370-372)Cgc>Tgc p.R124C CBX6_ENST00000216083.6_Missense_Mutation_p.R106C O95503 CBX6_HUMAN chromobox homolog 6 124 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(58;0.04) TGGCAGCGGCGGATGTCCTTC 0.697000 5 6 0 0 8.12818e-05 0 0 CX3CL1 6376 broad.mit.edu 37 16 57416244 57416244 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr16:57416244C>T ENST00000565912.1 + 2 3086 c.380C>T c.(379-381)tCa>tTa p.S127L CX3CL1_ENST00000563383.1_Missense_Mutation_p.S171L|CX3CL1_ENST00000006053.6_Missense_Mutation_p.S165L|CX3CL1_ENST00000564948.1_3'UTR P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 165 Mucin-like stalk. cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 ACTGGTTCCTCAGGGACCAGG 0.672000 16 13 0 0 7.07596e-05 0 0 TMEM71 137835 broad.mit.edu 37 8 133759319 133759319 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:133759319G>A ENST00000523829.1 - 5 477 c.356C>T c.(355-357)tCt>tTt p.S119F TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.S119F|TMEM71_ENST00000356838.3_Intron Q6P5X7 TMM71_HUMAN transmembrane protein 71 119 integral to membrane endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GTTGAAGAGAGAAGAAAAGGA 0.398000 19 38 0 0 0.000132079 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208841904 208841904 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:208841904G>A ENST00000457206.1 - 3 1444 c.1017C>T c.(1015-1017)ttC>ttT p.F339F PLEKHM3_ENST00000389247.4_Silent_p.F339F|PLEKHM3_ENST00000427836.2_Silent_p.F339F Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 339 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TTTTCTTCTGGAAACTATGAT 0.522000 19 69 0 0 0.000175454 0 0 CKAP5 9793 broad.mit.edu 37 11 46839972 46839972 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:46839972G>A ENST00000529230.1 - 3 186 c.140C>T c.(139-141)tCc>tTc p.S47F CKAP5_ENST00000312055.5_Missense_Mutation_p.S47F|CKAP5_ENST00000415402.1_Missense_Mutation_p.S47F|CKAP5_ENST00000354558.3_Missense_Mutation_p.S47F Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 47 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TAAAAATTTGGACCACTCTGG 0.373000 78 147 0 0 0.000147903 0 0 HHAT 55733 broad.mit.edu 37 1 210577939 210577939 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:210577939C>T ENST00000367010.1 + 6 827 c.600C>T c.(598-600)tcC>tcT p.S200S HHAT_ENST00000391905.3_Silent_p.S200S|HHAT_ENST00000537898.1_Silent_p.S135S|HHAT_ENST00000261458.3_Silent_p.S200S|HHAT_ENST00000541565.1_Intron|HHAT_ENST00000545154.1_Silent_p.S201S|HHAT_ENST00000413764.2_Silent_p.S200S|HHAT_ENST00000308852.6_Silent_p.S155S|HHAT_ENST00000545781.1_Silent_p.S137S NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 200 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) CCTCCTACTCCTTTCCCTGGA 0.562000 10 74 0 0 3.86212e-05 0 0 C10orf71 118461 broad.mit.edu 37 10 50531640 50531640 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:50531640G>A ENST00000374144.3 + 3 1338 c.1050G>A c.(1048-1050)ggG>ggA p.G350G C10orf71_ENST00000323868.4_Silent_p.G350G Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 350 endometrium(1) 1 TACCCTGGGGGTGCAGGGATC 0.592000 4 18 0 0 0.000274275 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37490176 37490176 + Missense_Mutation SNP C C A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:37490176C>A ENST00000374660.1 + 37 3080 c.2981C>A c.(2980-2982)aCt>aAt p.T994N ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T875N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T875N Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1023 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CTCCGTGAGACTGTTTCACAG 0.274000 21 82 5.26018e-13 8.08964e-12 0.000229342 1 0 DST 667 broad.mit.edu 37 6 56499366 56499366 + Missense_Mutation SNP G G A rs141002593 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:56499366G>A ENST00000370754.5 - 25 3288 c.3289C>T c.(3289-3291)Cgt>Tgt p.R1097C DST_ENST00000370765.6_Missense_Mutation_p.R593C|DST_ENST00000370788.2_Missense_Mutation_p.R919C|DST_ENST00000370769.4_Missense_Mutation_p.R919C|DST_ENST00000361203.3_Missense_Mutation_p.R919C|DST_ENST00000421834.2_Missense_Mutation_p.R919C|DST_ENST00000518935.1_Missense_Mutation_p.R593C|DST_ENST00000446842.2_Missense_Mutation_p.R593C|DST_ENST00000244364.6_Missense_Mutation_p.R593C|DST_ENST00000312431.6_Missense_Mutation_p.R919C Q03001 DYST_HUMAN dystonin 919 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CATTTAGCACGATGAGAGTTA 0.423000 49 31 0 0 0.000147903 0 0 MUC16 94025 broad.mit.edu 37 19 9063573 9063573 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:9063573G>A ENST00000397910.4 - 3 24076 c.23873C>T c.(23872-23874)tCa>tTa p.S7958L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7960 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 GCTCATCCATGATACATCCTC 0.453000 20 40 0 0 9.7654e-05 0 0 HAP1 9001 broad.mit.edu 37 17 39881157 39881157 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr17:39881157C>T ENST00000393939.2 - 10 1590 c.1581G>A c.(1579-1581)cgG>cgA p.R527R HAP1_ENST00000347901.4_Silent_p.R552R|HAP1_ENST00000341193.5_Silent_p.R535R|HAP1_ENST00000310778.5_Silent_p.R604R|JUP_ENST00000540235.1_Intron P54257 HAP1_HUMAN huntingtin-associated protein 1 604 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) CCACGTTCATCCGCGTTGCCT 0.617000 65 86 0 0 0.000147903 0 0 PIK3R4 30849 broad.mit.edu 37 3 130398288 130398288 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:130398288G>A ENST00000356763.3 - 20 4505 c.3948C>T c.(3946-3948)acC>acT p.T1316T NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 1316 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 CCCTTCGAGGGGTGTCATCAC 0.483000 27 59 0 0 0.000491102 0 0 POLG 5428 broad.mit.edu 37 15 89876715 89876715 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr15:89876715C>T ENST00000268124.5 - 2 604 c.271G>A c.(271-273)Gga>Aga p.G91R POLG_ENST00000442287.2_Missense_Mutation_p.G91R NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 91 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) ATCTCCCCTCCTTGCCCGAAG 0.682000 DNA polymerases (catalytic subunits) 4 11 0 0 0.00024832 0 0 FLNB 2317 broad.mit.edu 37 3 58111339 58111339 + Silent SNP C C T rs150901141 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:58111339C>T ENST00000357272.4 + 23 4095 c.3930C>T c.(3928-3930)gaC>gaT p.D1310D FLNB_ENST00000419752.2_Silent_p.D1141D|FLNB_ENST00000348383.5_Silent_p.D1310D|FLNB_ENST00000295956.4_Silent_p.D1310D|FLNB_ENST00000493452.1_Silent_p.D1141D|FLNB_ENST00000490882.1_Silent_p.D1310D|FLNB_ENST00000358537.3_Silent_p.D1310D|FLNB_ENST00000429972.2_Silent_p.D1310D O75369 FLNB_HUMAN filamin B, beta 1310 Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CATATGATGACGTGCCTATCC 0.463000 36 70 0 0 0.000589545 0 0 CROCCP3 114819 broad.mit.edu 37 1 16817192 16817192 + RNA SNP A A G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:16817192A>G ENST00000263511.4 - 0 1075 NR_023386.1 CACCTTTTGTATGTCCTCACT 0.627000 4 4 0 0 0.000602214 0 0 USP9X 8239 broad.mit.edu 37 X 41055614 41055614 + Splice_Site SNP T T G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:41055614T>G ENST00000324545.7 + 27 4719 c.e27+2 USP9X_ENST00000378308.2_Splice_Site NM_001039590.2|NM_001039591.2 NP_001034679.2|NP_001034680.2 Q93008 USP9X_HUMAN ubiquitin specific peptidase 9, X-linked BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 GTTTTGGGGGTGAGACTTTTT 0.378000 44 66 0 0 0.000589545 0 0 FRMPD2 143162 broad.mit.edu 37 10 49457098 49457098 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:49457098C>T ENST00000374201.3 - 3 577 c.275G>A c.(274-276)gGa>gAa p.G92E FRMPD2_ENST00000407470.4_Missense_Mutation_p.G83E|FRMPD2_ENST00000305531.3_Missense_Mutation_p.G90E NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 92 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CTCACTCTGTCCCTGTAGCAG 0.562000 15 19 0 0 0.000566183 0 0 NFXL1 152518 broad.mit.edu 37 4 47899986 47899986 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:47899986G>A ENST00000507489.1 - 9 1378 c.1202C>T c.(1201-1203)tCa>tTa p.S401L NFXL1_ENST00000381538.3_Missense_Mutation_p.S401L|NFXL1_ENST00000329043.3_Missense_Mutation_p.S401L NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 401 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 AGTCTTACTTGATTTCTGACA 0.383000 21 25 0 0 0.000229342 0 0 PTPN14 5784 broad.mit.edu 37 1 214551323 214551323 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:214551323G>A ENST00000366956.5 - 14 2861 c.2667C>T c.(2665-2667)acC>acT p.T889T PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 889 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TGGGAACCCGGGTGGCATCAA 0.562000 13 79 0 0 0.000151284 0 0 RIMS1 22999 broad.mit.edu 37 6 73108683 73108683 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:73108683G>A ENST00000264839.7 + 29 4294 c.4294G>A c.(4294-4296)Gaa>Aaa p.E1432K RIMS1_ENST00000401910.3_Missense_Mutation_p.E903K|RIMS1_ENST00000491071.2_Missense_Mutation_p.E1372K|RIMS1_ENST00000517960.1_Missense_Mutation_p.E1366K|RIMS1_ENST00000518273.1_Missense_Mutation_p.E1262K|RIMS1_ENST00000348717.5_Missense_Mutation_p.E1366K|RIMS1_ENST00000538414.1_Missense_Mutation_p.E389K|RIMS1_ENST00000517827.1_Missense_Mutation_p.E717K|RIMS1_ENST00000522291.1_Missense_Mutation_p.E1182K|RIMS1_ENST00000414192.2_Missense_Mutation_p.E110K|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000520567.1_Missense_Mutation_p.E1233K|RIMS1_ENST00000521978.1_Missense_Mutation_p.E1583K|RIMS1_ENST00000523963.1_Missense_Mutation_p.E708K|RIMS1_ENST00000425662.2_Missense_Mutation_p.E651K Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1583 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) ATATCTTTTGGAAAATGGGGC 0.333000 9 51 0 0 0.000442599 0 0 DEFB129 140881 broad.mit.edu 37 20 207945 207945 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr20:207945C>T ENST00000246105.4 + 1 47 c.16C>T c.(16-18)Cct>Tct p.P6S NM_080831.3 NP_543021.1 Q9H1M3 DB129_HUMAN defensin, beta 129 6 defense response to bacterium extracellular region endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1) 9 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) GCTCCTTTTTCCTATCTTTGC 0.498000 46 72 0 0 0.000147903 0 0 RBP3 5949 broad.mit.edu 37 10 48383871 48383871 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:48383871C>T ENST00000224600.4 - 3 3474 c.3361G>A c.(3361-3363)Gaa>Aaa p.E1121K NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 1121 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GTCCAGAGTTCACTGACAGAG 0.522000 19 42 0 0 0.000375601 0 0 TMEM63C 57156 broad.mit.edu 37 14 77706030 77706030 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:77706030C>T ENST00000298351.4 + 12 1035 c.891C>T c.(889-891)gcC>gcT p.A297A NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 297 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) ACCCCTGTGCCCGCCTGTGCT 0.622000 4 7 0 0 0.000602214 0 0 IQCF1 132141 broad.mit.edu 37 3 51937094 51937094 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr3:51937094C>T ENST00000310914.5 - 2 77 c.15G>A c.(13-15)caG>caA p.Q5Q NM_152397.2 NP_689610.2 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 5 p.Q5H(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TCTTTTGGGGCTGCTTCTCCT 0.537000 112 183 0 0 0.000147903 0 0 ZMYND15 84225 broad.mit.edu 37 17 4644070 4644070 + Missense_Mutation SNP A A G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr17:4644070A>G ENST00000433935.1 + 2 284 c.227A>G c.(226-228)gAa>gGa p.E76G ZMYND15_ENST00000269289.6_Missense_Mutation_p.E76G|ZMYND15_ENST00000592813.1_Missense_Mutation_p.E76G|ZMYND15_ENST00000573751.2_Missense_Mutation_p.E76G NM_001136046.2|NM_001267822.1 NP_001129518.1|NP_001254751.1 Q9H091 ZMY15_HUMAN zinc finger, MYND-type containing 15 76 zinc ion binding endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2) 18 CAAGGGGCAGAACCAGGTCCT 0.632000 7 6 0 0 8.12818e-05 0 0 OR52M1 119772 broad.mit.edu 37 11 4567275 4567275 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:4567275C>T ENST00000360213.1 + 1 855 c.855C>T c.(853-855)ctC>ctT p.L285L NM_001004137.1 NP_001004137.1 Q8NGK5 O52M1_HUMAN olfactory receptor, family 52, subfamily M, member 1 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTATCTCCTCATTCCTCCAA 0.458000 15 25 0 0 0.000422831 0 0 LRRC18 474354 broad.mit.edu 37 10 50121505 50121505 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:50121505C>T ENST00000374160.3 - 1 772 c.696G>A c.(694-696)ccG>ccA p.P232P RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Silent_p.P232P NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 232 cytoplasm NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 TGGTCTTTCTCGGTGTCGTCG 0.527000 35 70 0 0 0.00058488 0 0 DEPTOR 64798 broad.mit.edu 37 8 121013833 121013833 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:121013833G>A ENST00000286234.5 + 5 804 c.674G>A c.(673-675)cGa>cAa p.R225Q DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Missense_Mutation_p.R124Q NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein 225 Poly-Arg. intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 CGGCGGAGGCGAAGACTGATG 0.493000 30 30 0 0 0.00058488 0 0 MAP3K4 4216 broad.mit.edu 37 6 161528978 161528978 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr6:161528978G>A ENST00000392142.4 + 21 4244 c.4096G>A c.(4096-4098)Ggg>Agg p.G1366R MAP3K4_ENST00000348824.7_Missense_Mutation_p.G1312R|MAP3K4_ENST00000366920.2_Missense_Mutation_p.G1362R|MAP3K4_ENST00000366919.2_Missense_Mutation_p.G1316R NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1366 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) CGTCGACACCGGGGAGCTGAT 0.577000 14 12 0 0 0.000219431 0 0 KHDRBS3 10656 broad.mit.edu 37 8 136594218 136594218 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:136594218C>T ENST00000355849.5 + 6 1119 c.709C>T c.(709-711)Cgg>Tgg p.R237W KHDRBS3_ENST00000520981.1_Intron NM_006558.1 NP_006549.1 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal transduction associated 3 237 Interaction with SIAH1. regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 26 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) GCCAGTGAGTCGGGGAAGAGG 0.602000 34 27 0 0 0.000339439 0 0 PI4K2A 55361 broad.mit.edu 37 10 99410889 99410889 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:99410889C>T ENST00000370631.3 + 2 684 c.627C>T c.(625-627)ccC>ccT p.P209P PI4K2A_ENST00000555577.1_Silent_p.P179P|PI4K2A_ENST00000370649.3_Silent_p.P179P NM_018425.2 NP_060895.1 Q9BTU6 P4K2A_HUMAN phosphatidylinositol 4-kinase type 2 alpha 209 PI3K/PI4K. phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1) 12 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) ACATTGTTCCCCGTACAAAGG 0.552000 6 21 0 0 0.000157383 0 0 CYP27C1 339761 broad.mit.edu 37 2 127956997 127956997 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:127956997C>T ENST00000335247.7 - 4 637 c.507G>A c.(505-507)gaG>gaA p.E169E CYP27C1_ENST00000409327.1_Silent_p.E169E NM_001001665.3 NP_001001665.3 Q4G0S4 C27C1_HUMAN cytochrome P450, family 27, subfamily C, polypeptide 1 169 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) TGGCGTAGATCTCCTGCAGCG 0.577000 13 37 0 0 0.00010058 0 0 TNR 7143 broad.mit.edu 37 1 175355293 175355293 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:175355293C>T ENST00000367674.1 - 8 2360 c.1652G>A c.(1651-1653)cGg>cAg p.R551Q TNR_ENST00000263525.2_Missense_Mutation_p.R551Q NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 551 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AGGCTGCAGCCGGAAGGTGGT 0.597000 5 28 0 0 0.000602214 0 0 HKR1 284459 broad.mit.edu 37 19 37854094 37854094 + Missense_Mutation SNP T T C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:37854094T>C ENST00000591471.1 + 9 2219 c.578T>C c.(577-579)gTt>gCt p.V193A HKR1_ENST00000541583.2_Missense_Mutation_p.V405A|HKR1_ENST00000324411.4_Missense_Mutation_p.V466A|HKR1_ENST00000544914.1_Missense_Mutation_p.V193A|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Missense_Mutation_p.V447A|HKR1_ENST00000589392.1_Missense_Mutation_p.V448A P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 466 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CACTCAGGGGTTAAACCTTAT 0.488000 15 30 0 0 0.000422831 0 0 C2CD3 26005 broad.mit.edu 37 11 73760455 73760455 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:73760455G>A ENST00000334126.7 - 27 5514 c.5288C>T c.(5287-5289)tCc>tTc p.S1763F C2CD3_ENST00000313663.7_Missense_Mutation_p.S1763F Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1763 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) CTCCAAAGGGGAGACAGCAAC 0.488000 15 36 0 0 0.000422831 0 0 SNHG14 104472715 broad.mit.edu 37 15 25328765 25328765 + RNA SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr15:25328765C>T ENST00000546682.1 + 0 320 SNORD116-17_ENST00000383929.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 ATATACATTCCTTGGAAAGCT 0.423000 8 73 0 0 3.86212e-05 0 0 LIG1 3978 broad.mit.edu 37 19 48634357 48634357 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:48634357C>T ENST00000263274.7 - 19 2216 c.1797G>A c.(1795-1797)ccG>ccA p.P599P LIG1_ENST00000536218.1_Silent_p.P531P|LIG1_ENST00000427526.2_Silent_p.P568P NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 599 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) TGATGATGTCCGGGTACTTCC 0.597000 Nucleotide excision repair (NER) 15 23 0 0 9.7654e-05 0 0 PRG4 10216 broad.mit.edu 37 1 186280225 186280225 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:186280225G>A ENST00000445192.2 + 9 3604 c.3559G>A c.(3559-3561)Gaa>Aaa p.E1187K PRG4_ENST00000367485.4_Missense_Mutation_p.E1094K|PRG4_ENST00000367484.3_Missense_Mutation_p.E716K|PRG4_ENST00000367486.3_Missense_Mutation_p.E1144K|PRG4_ENST00000367483.4_Missense_Mutation_p.E1146K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 1187 Hemopexin-like 1. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAGAATTACTGAAGTTTGGGG 0.388000 71 44 0 0 0.000147903 0 0 MAP4K4 9448 broad.mit.edu 37 2 102480488 102480488 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:102480488C>T ENST00000324219.4 + 17 2146 c.2072C>T c.(2071-2073)tCa>tTa p.S691L MAP4K4_ENST00000413150.2_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.S586L|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000347699.4_Intron|MAP4K4_ENST00000425019.1_Intron|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350198.4_Intron O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 617 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TGGTCTAGATCAGACAGTGAC 0.453000 7 25 0 0 8.12818e-05 0 0 PRAM1 84106 broad.mit.edu 37 19 8563934 8563934 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:8563934G>A ENST00000423345.4 - 2 1278 c.758C>T c.(757-759)cCc>cTc p.P253L PRAM1_ENST00000255612.3_Missense_Mutation_p.P253L Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 301 Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 CTTCCAGAGGGGAGTCTGAGC 0.627000 13 25 0 0 0.000219431 0 0 KCNB1 3745 broad.mit.edu 37 20 47990233 47990233 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr20:47990233G>A ENST00000371741.4 - 2 2030 c.1864C>T c.(1864-1866)Cca>Tca p.P622S NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 622 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CCCACTTCTGGGGCTGTGCTG 0.587000 12 21 0 0 6.40141e-05 0 0 TMEM182 130827 broad.mit.edu 37 2 103431399 103431399 + Missense_Mutation SNP T T C TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:103431399T>C ENST00000412401.2 + 5 867 c.662T>C c.(661-663)gTt>gCt p.V221A TMEM182_ENST00000409528.1_Missense_Mutation_p.V125A|TMEM182_ENST00000486293.1_Intron|TMEM182_ENST00000409173.1_Missense_Mutation_p.V178A NM_144632.3 NP_653233.3 Q6ZP80 TM182_HUMAN transmembrane protein 182 221 integral to membrane breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 TTTCTGGTTGTTGGATGGCAT 0.373000 9 32 0 0 6.40141e-05 0 0 OR52E2 119678 broad.mit.edu 37 11 5080083 5080083 + Missense_Mutation SNP A A T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:5080083A>T ENST00000321522.2 - 1 774 c.775T>A c.(775-777)Tcc>Acc p.S259T NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) GTCATAAAGGAAAAGAGGGCT 0.473000 23 50 0 0 0.000375601 0 0 GRIN2B 2904 broad.mit.edu 37 12 13761575 13761575 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr12:13761575C>T ENST00000279593.3 - 9 2181 c.1972G>A c.(1972-1974)Gaa>Aaa p.E658K NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 658 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) TCCACATATTCCTCTTGGATC 0.498000 9 26 0 0 3.86212e-05 0 0 RYR1 6261 broad.mit.edu 37 19 39023333 39023333 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:39023333G>A ENST00000355481.4 + 77 11332 c.11201G>A c.(11200-11202)gGg>gAg p.G3734E RYR1_ENST00000360985.3_Missense_Mutation_p.G3739E|RYR1_ENST00000359596.3_Missense_Mutation_p.G3739E NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3739 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GAGGAGGGAGGGGAGAACGGT 0.602000 7 21 0 0 3.86212e-05 0 0 KCNE3 10008 broad.mit.edu 37 11 74168377 74168377 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr11:74168377C>T ENST00000310128.4 - 3 651 c.232G>A c.(232-234)Gga>Aga p.G78R KCNE3_ENST00000525550.1_Missense_Mutation_p.G78R|RP11-702H23.4_ENST00000533008.1_RNA NM_005472.4 NP_005463.1 Q9Y6H6 KCNE3_HUMAN potassium voltage-gated channel, Isk-related family, member 3 78 integral to membrane voltage-gated potassium channel activity cervix(1)|large_intestine(1)|lung(1)|ovary(1) 4 Breast(11;2.86e-06) CGGGTGTATCCCAGGATGAGG 0.517000 10 25 0 0 0.000442599 0 0 ATAD2 29028 broad.mit.edu 37 8 124346237 124346237 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:124346237G>A ENST00000287394.5 - 24 3466 c.3359C>T c.(3358-3360)cCg>cTg p.P1120L ATAD2_ENST00000521903.1_Missense_Mutation_p.P438L NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1120 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GTAGTAAGACGGGGCATATTT 0.378000 24 95 0 0 0.000586117 0 0 OR2T2 401992 broad.mit.edu 37 1 248616301 248616301 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:248616301C>T ENST00000342927.3 + 1 225 c.203C>T c.(202-204)tCc>tTc p.S68F NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S68F(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGCCAGCTCTCCATCATGGAT 0.512000 43 90 0 0 0.000147903 0 0 GABRE 2564 broad.mit.edu 37 X 151123984 151123984 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:151123984G>A ENST00000370325.1 - 8 1046 c.993C>T c.(991-993)ttC>ttT p.F331F GABRE_ENST00000370328.3_Silent_p.F331F|GABRE_ENST00000483564.1_5'UTR P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 331 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) AGACACGCGGGAAATTCTTAC 0.507000 18 60 0 0 9.7654e-05 0 0 GPRIN1 114787 broad.mit.edu 37 5 176026654 176026654 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr5:176026654G>A ENST00000303991.4 - 2 359 c.182C>T c.(181-183)cCt>cTt p.P61L NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 61 growth cone|plasma membrane p.P61H(1) NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTTTGGTCAGGGGTGTGCCT 0.672000 20 42 0 0 0.000147802 0 0 C10orf68 79741 broad.mit.edu 37 10 33140760 33140760 + Silent SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:33140760C>T ENST00000375030.2 + 21 2145 c.1527C>T c.(1525-1527)ccC>ccT p.P509P C10orf68_ENST00000375028.3_Silent_p.P554P|C10orf68_ENST00000375025.4_Silent_p.P614P Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 550 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 ACTCTTCACCCTATGTGACTG 0.343000 51 76 0 0 0.000147903 0 0 RALGDS 5900 broad.mit.edu 37 9 135977952 135977952 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:135977952G>A ENST00000393160.3 - 14 2108 c.1755C>T c.(1753-1755)aaC>aaT p.N585N RALGDS_ENST00000542690.1_Silent_p.N711N|RALGDS_ENST00000372050.3_Silent_p.N640N|RALGDS_ENST00000393157.3_Silent_p.N639N|RALGDS_ENST00000372047.3_Silent_p.N628N|RALGDS_ENST00000372062.3_Silent_p.N611N|RALGDS_ENST00000469972.1_5'UTR NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 640 Ras-GEF. nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CGCACGACAGGTTGTAGCTAT 0.642000 T CIITA """PMBL, Hodgkin Lymphona, """ 24 35 0 0 9.22233e-05 0 0 ZNF326 284695 broad.mit.edu 37 1 90483007 90483007 + Missense_Mutation SNP T T G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:90483007T>G ENST00000340281.4 + 8 1201 c.1058T>G c.(1057-1059)gTt>gGt p.V353G ZNF326_ENST00000455342.2_Missense_Mutation_p.V147G|ZNF326_ENST00000370447.2_Missense_Mutation_p.V264G NM_182976.2 NP_892021.1 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 353 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1) 25 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) GATAAAGTAGTTATGGAGTTT 0.313000 5 55 0 0 0.000442599 0 0 DOCK1 1793 broad.mit.edu 37 10 129141980 129141980 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr10:129141980C>T ENST00000280333.6 + 31 3240 c.3131C>T c.(3130-3132)tCa>tTa p.S1044L DOCK1_ENST00000484400.1_3'UTR NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 1044 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) GAGAATTTTTCAAGTGCCAAG 0.428000 7 8 0 0 0.000274275 0 0 UBE4B 10277 broad.mit.edu 37 1 10186901 10186901 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:10186901C>T ENST00000377157.3 + 10 1930 c.869C>T c.(868-870)tCc>tTc p.S290F UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000253251.8_Missense_Mutation_p.S406F|UBE4B_ENST00000343090.6_Missense_Mutation_p.S535F NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 535 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) AAAGAGTGCTCCCTCGACAGT 0.323000 37 41 0 0 0.000125731 0 0 LAMA1 284217 broad.mit.edu 37 18 6978196 6978196 + Splice_Site SNP G G A rs144466305 TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr18:6978196G>A ENST00000389658.3 - 43 6282 c.6190_splice c.e43+1 p.A2063_splice NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2063 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGACATACTGGCCATGGTGG 0.552000 34 60 0 0 0.000109025 0 0 REPIN1 29803 broad.mit.edu 37 7 150069908 150069908 + Silent SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:150069908G>A ENST00000397281.2 + 4 2067 c.1578G>A c.(1576-1578)caG>caA p.Q526Q REPIN1_ENST00000489432.2_Silent_p.Q583Q|REPIN1_ENST00000540729.1_Silent_p.Q526Q|REPIN1_ENST00000425389.2_Silent_p.Q526Q|REPIN1_ENST00000444957.1_Silent_p.Q526Q|REPIN1_ENST00000479668.1_3'UTR NM_013400.3 NP_037532.2 Q9BWE0 REPI1_HUMAN replication initiator 1 526 DNA replication nuclear origin of replication recognition complex DNA binding|zinc ion binding cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 14 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.011) GCTTCAGCCAGAAGTCCAACC 0.647000 8 24 0 0 0.000442599 0 0 ZBED1 9189 broad.mit.edu 37 X 2408217 2408217 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chrX:2408217C>T ENST00000381223.4 - 2 747 c.544G>A c.(544-546)Gag>Aag p.E182K ZBED1_ENST00000381218.3_Missense_Mutation_p.E182K|ZBED1_ENST00000381222.2_Missense_Mutation_p.E182K|DHRSX_ENST00000334651.5_Intron NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 182 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 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) AGGATCACCTCCCGGACGGCC 0.632000 30 83 0 0 0.000339439 0 0 SUGP2 10147 broad.mit.edu 37 19 19135649 19135649 + Missense_Mutation SNP C C G TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr19:19135649C>G ENST00000601879.1 - 3 1805 c.1508G>C c.(1507-1509)gGc>gCc p.G503A SUGP2_ENST00000337018.6_Missense_Mutation_p.G503A|SUGP2_ENST00000600377.1_Missense_Mutation_p.G517A|SUGP2_ENST00000452918.2_Missense_Mutation_p.G503A|SUGP2_ENST00000456085.2_Missense_Mutation_p.G272A Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 503 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 ATCTTGCAGGCCGACAGCTTC 0.512000 44 66 0 0 0.000147903 0 0 SAMD9 54809 broad.mit.edu 37 7 92734352 92734352 + Silent SNP C C T rs145911444 byFrequency TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:92734352C>T ENST00000379958.2 - 3 1328 c.1059G>A c.(1057-1059)acG>acA p.T353T NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 353 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CTTTATTTTTCGTAATGTCCT 0.318000 28 58 0 0 0.000227799 0 0 RBPMS 11030 broad.mit.edu 37 8 30402095 30402095 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:30402095C>T ENST00000320203.4 + 6 1064 c.482C>T c.(481-483)gCt>gTt p.A161V RBPMS_ENST00000287771.5_Missense_Mutation_p.A161V|RBPMS_ENST00000397323.4_Missense_Mutation_p.A161V|RBPMS_ENST00000538486.1_Intron|RBPMS_ENST00000520191.1_Missense_Mutation_p.A57V|RBPMS_ENST00000520161.1_Missense_Mutation_p.A57V|RBPMS_ENST00000519647.1_Missense_Mutation_p.A57V|RBPMS_ENST00000517860.1_Missense_Mutation_p.A161V|RBPMS_ENST00000339877.4_Missense_Mutation_p.A161V NM_006867.2 NP_006858.1 Q93062 RBPMS_HUMAN RNA binding protein with multiple splicing 161 positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) TTAGCGCCTGCTCTACCTCCT 0.542000 32 28 0 0 0.00058488 0 0 PYGL 5836 broad.mit.edu 37 14 51372192 51372192 + Missense_Mutation SNP T T A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr14:51372192T>A ENST00000216392.7 - 20 2794 c.2462A>T c.(2461-2463)tAt>tTt p.Y821F PYGL_ENST00000544180.2_Missense_Mutation_p.Y787F|PYGL_ENST00000532462.1_Intron NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 821 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) GTTTTGGGCATATTCTTTAAT 0.383000 25 83 0 0 0.000586117 0 0 GLI2 2736 broad.mit.edu 37 2 121742237 121742237 + Missense_Mutation SNP C C T TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr2:121742237C>T ENST00000452319.1 + 12 1934 c.1874C>T c.(1873-1875)cCa>cTa p.P625L GLI2_ENST00000361492.4_Missense_Mutation_p.P625L|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.P297L P10070 GLI2_HUMAN GLI family zinc finger 2 625 P -> S (in dbSNP:rs3099537). axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CCTGGCGGCCCAGAGAGCACC 0.662000 6 13 0 0 0.000157383 0 0 SOX7 83595 broad.mit.edu 37 8 10583576 10583576 + Missense_Mutation SNP G G A TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr8:10583576G>A ENST00000304501.1 - 2 917 c.839C>T c.(838-840)tCt>tTt p.S280F SOX7_ENST00000554914.1_Missense_Mutation_p.S332F|SOX7_ENST00000553390.1_Missense_Mutation_p.S332F NM_031439.2 NP_113627.1 Q9BT81 SOX7_HUMAN SRY (sex determining region Y)-box 7 280 Sox C-terminal. endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 COAD - Colon adenocarcinoma(149;0.0732) ATAGGCAGGAGATGGGGGACA 0.677000 10 12 0 0 3.86212e-05 0 0 TNFRSF8 943 broad.mit.edu 37 1 12198305 12198305 + Missense_Mutation SNP C C T rs141539189 byFrequency TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr1:12198305C>T ENST00000263932.2 + 14 1577 c.1355C>T c.(1354-1356)tCg>tTg p.S452L TNFRSF8_ENST00000479933.2_Intron|TNFRSF8_ENST00000413146.2_5'UTR|TNFRSF8_ENST00000417814.2_Missense_Mutation_p.S340L NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 452 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) AGTGGTGCGTCGGTGACAGAA 0.627000 16 10 0 0 0.000566183 0 0 RGS12 6002 broad.mit.edu 37 4 3432408 3432408 + Frame_Shift_Del DEL C C - TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr4:3432408delC ENST00000336727.3 + 17 4744 c.3840delC c.(3838-3840)agfs p.S1280fs RGS12_ENST00000382788.3_Frame_Shift_Del_p.S1280fs|RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000344733.5_Frame_Shift_Del_p.S1280fs|RGS12_ENST00000338806.4_Frame_Shift_Del_p.S632fs NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1280 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CAGCCTCCAGCCCCCCTGGAC 0.741 2 4 --- --- --- --- WDR86 349136 broad.mit.edu 37 7 151106512 151106512 + Splice_Site DEL C C - TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr7:151106512delC ENST00000334493.6 - 1 594 c.e1+1 WDR86_ENST00000477459.1_Intron|WDR86_ENST00000469830.2_Splice_Site|WDR86-AS1_ENST00000480632.1_RNA|WDR86-AS1_ENST00000489632.1_RNA NM_198285.2 NP_938026.2 Q86TI4 WDR86_HUMAN WD repeat domain 86 breast(1)|endometrium(2)|kidney(1)|lung(6) 10 OV - Ovarian serous cystadenocarcinoma(82;0.00419) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGAGGGTCTACCTTGCAGGAG 0.721 2 4 --- --- --- --- OR13C8 138802 broad.mit.edu 37 9 107331747 107331747 + Frame_Shift_Del DEL A A - TCGA-FS-A1Z0-06A-11D-A197-08 TCGA-FS-A1Z0-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8211344c-0702-450c-8650-b9576db5f55a 0e02a3f4-6e67-4299-94bf-2e05b165dd4c g.chr9:107331747delA ENST00000335040.1 + 1 299 c.299delA c.(298-300)cafs p.Q100fs NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TGTATGGTGCAAATGTTTATT 0.493 46 105 --- --- --- ---