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 C16orf70 80262 broad.mit.edu 37 16 67159865 67159865 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr16:67159865C>A ENST00000219139.3 + 3 339 c.151C>A c.(151-153)Cct>Act p.P51T C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.P51T NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 51 cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) TTTGTAGTCTCCTCTAAGCCA 0.348000 88 71 5.52034e-35 5.87621e-35 1 1 0 GPR12 2835 broad.mit.edu 37 13 27333462 27333462 + Missense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr13:27333462G>T ENST00000405846.3 - 2 724 c.503C>A c.(502-504)tCc>tAc p.S168Y GPR12_ENST00000381436.2_Missense_Mutation_p.S168Y NM_005288.3 NP_005279.1 P47775 GPR12_HUMAN G protein-coupled receptor 12 168 integral to plasma membrane endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) CAGGCAGATGGAGGTCCCCCA 0.597000 25 26 1.64293e-13 1.68781e-13 1 1 0 CASD1 64921 broad.mit.edu 37 7 94173797 94173797 + Silent SNP A A G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:94173797A>G ENST00000297273.4 + 11 1718 c.1431A>G c.(1429-1431)tcA>tcG p.S477S NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 477 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) GGCATTTCTCATACTTTTGGA 0.353000 49 102 0 0 1 0 0 ITIH4 3700 broad.mit.edu 37 3 52852289 52852289 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:52852289C>T ENST00000266041.4 - 19 2259 c.2163G>A c.(2161-2163)atG>atA p.M721I RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Missense_Mutation_p.M691I|ITIH4_ENST00000346281.5_Missense_Mutation_p.M691I|ITIH4_ENST00000485816.1_Missense_Mutation_p.M726I NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 721 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) TTTGGGTTGTCATGGTTGTTT 0.592000 22 65 0 0 1 0 0 CNN3 1266 broad.mit.edu 37 1 95368702 95368702 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:95368702G>A ENST00000370206.4 - 3 605 c.222C>T c.(220-222)aaC>aaT p.N74N CNN3_ENST00000538964.1_Silent_p.N74N|CNN3_ENST00000545882.1_Silent_p.N33N|CNN3_ENST00000487539.1_5'UTR|CNN3_ENST00000394202.4_Silent_p.N74N NM_001839.3 NP_001830.1 Q15417 CNN3_HUMAN calponin 3, acidic 74 CH. actomyosin structure organization|smooth muscle contraction actin binding|calmodulin binding|tropomyosin binding|troponin C binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2) 18 all_lung(203;0.00206)|Lung NSC(277;0.00948) all cancers(265;0.0325)|Epithelial(280;0.0861) GTGAGGACTCGTTGACCTTCT 0.403000 9 65 0 0 1 0 0 RMDN3 55177 broad.mit.edu 37 15 41029865 41029865 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:41029865G>A ENST00000260385.6 - 9 2252 c.1185C>T c.(1183-1185)ctC>ctT p.L395L RMDN3_ENST00000338376.3_Silent_p.L395L regulator of microtubule dynamics 3 p.L395L(1) CAGTGGCACTGAGAGGGCTTT 0.468000 26 84 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153897386 153897386 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr4:153897386C>G ENST00000511601.1 + 12 3131 c.2943C>G c.(2941-2943)ttC>ttG p.F981L FHDC1_ENST00000260008.3_Missense_Mutation_p.F981L Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 981 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) GGGGTTCTTTCAAGAAGCCCA 0.657000 12 29 0 0 1 0 0 C1orf112 55732 broad.mit.edu 37 1 169771854 169771854 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:169771854G>A ENST00000286031.6 + 4 859 c.159G>A c.(157-159)agG>agA p.R53R C1orf112_ENST00000456684.1_Silent_p.R111R|C1orf112_ENST00000413811.2_Silent_p.R24R|C1orf112_ENST00000359326.4_Silent_p.R53R|C1orf112_ENST00000498289.1_3'UTR NM_018186.2 NP_060656.2 Q9NSG2 CA112_HUMAN chromosome 1 open reading frame 112 53 breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1) 34 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CCACTCTAAGGAATATTTTAC 0.338000 24 69 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112363149 112363149 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:112363149C>G ENST00000302475.4 - 17 2903 c.2340G>C c.(2338-2340)aaG>aaC p.K780N MCC_ENST00000408903.3_Missense_Mutation_p.K970N|MCC_ENST00000515367.2_Missense_Mutation_p.K717N|MCC_ENST00000514701.3_5'UTR NM_002387.2 NP_002378 P23508 CRCM_HUMAN mutated in colorectal cancers 780 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) GATGCTTTTTCTTTGCTTTCT 0.453000 67 103 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40655747 40655747 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:40655747C>T ENST00000406785.2 - 2 1863 c.1674G>A c.(1672-1674)gtG>gtA p.V558V SLC8A1_ENST00000405269.1_Silent_p.V558V|SLC8A1_ENST00000542756.1_Silent_p.V558V|SLC8A1_ENST00000402441.1_Silent_p.V558V|SLC8A1_ENST00000332839.4_Silent_p.V558V|SLC8A1_ENST00000406391.2_Silent_p.V558V|SLC8A1_ENST00000403092.1_Silent_p.V558V|SLC8A1_ENST00000408028.2_Silent_p.V558V|SLC8A1_ENST00000405901.3_Silent_p.V558V|SLC8A1_ENST00000542024.1_Silent_p.V558V P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 Calx-beta 2. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TCAATACTTTCACCTCCATGA 0.453000 56 112 0 0 1 0 0 KCNMB4 27345 broad.mit.edu 37 12 70794070 70794070 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:70794070G>C ENST00000258111.4 + 2 877 c.418G>C c.(418-420)Gag>Cag p.E140Q NM_014505.5 NP_055320.4 Q86W47 KCMB4_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 4 140 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission voltage-gated potassium channel complex calcium-activated potassium channel activity|protein binding kidney(1)|large_intestine(4)|lung(5) 10 Renal(347;0.236) Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) CTGGAAAGATGAGATTGGTTC 0.363000 76 206 0 0 1 0 0 ZNF90 7643 broad.mit.edu 37 19 20229527 20229527 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:20229527G>C ENST00000418063.2 + 4 1276 c.1164G>C c.(1162-1164)aaG>aaC p.K388N ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 388 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 ATAAACATAAGATAAGTCATA 0.363000 20 37 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115402729 115402729 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:115402729G>C ENST00000369358.4 - 12 1423 c.1179C>G c.(1177-1179)ttC>ttG p.F393L NRAP_ENST00000359988.3_Missense_Mutation_p.F393L|NRAP_ENST00000360478.3_Intron|NRAP_ENST00000369360.3_Intron Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 393 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TCACGTTCCTGAATTGAGGTG 0.408000 47 45 0 0 1 0 0 CCDC150 284992 broad.mit.edu 37 2 197540881 197540881 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:197540881G>C ENST00000389175.4 + 11 1287 c.1152G>C c.(1150-1152)atG>atC p.M384I CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000423093.2_Missense_Mutation_p.M52I|CCDC150_ENST00000272831.7_Missense_Mutation_p.M52I NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 384 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 AGCAGAAAATGATGACGCAGA 0.393000 41 65 0 0 1 0 0 PCK2 5106 broad.mit.edu 37 14 24567839 24567839 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:24567839G>A ENST00000545054.2 + 4 1132 c.214G>A c.(214-216)Gac>Aac p.D72N NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Missense_Mutation_p.D218N|PCK2_ENST00000216780.4_Missense_Mutation_p.D206N|PCK2_ENST00000396973.4_Missense_Mutation_p.D206N|PCK2_ENST00000561286.1_Missense_Mutation_p.D72N|PCK2_ENST00000558096.1_Missense_Mutation_p.D72N Q16822 PCKGM_HUMAN phosphoenolpyruvate carboxykinase 2 (mitochondrial) 206 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) GGGAGATGGTGACTTTGTCAA 0.587000 16 20 0 0 1 0 0 FAM19A4 151647 broad.mit.edu 37 3 68802032 68802032 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:68802032G>C ENST00000295569.7 - 4 760 c.268C>G c.(268-270)Caa>Gaa p.Q90E NM_001005527.2|NM_182522.4 NP_001005527.1|NP_872328.1 Q96LR4 F19A4_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 90 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2) 10 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) CAAGAAGGTTGAGCCCGAGTT 0.517000 34 81 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55195898 55195898 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:55195898C>A ENST00000396834.1 + 10 1446 c.950C>A c.(949-951)tCt>tAt p.S317Y IL31RA_ENST00000354961.4_Missense_Mutation_p.S317Y|IL31RA_ENST00000297015.3_Missense_Mutation_p.S194Y|IL31RA_ENST00000447346.2_Missense_Mutation_p.S336Y|IL31RA_ENST00000396836.2_Missense_Mutation_p.S336Y|IL31RA_ENST00000359040.5_Missense_Mutation_p.S336Y|IL31RA_ENST00000490985.1_Missense_Mutation_p.S194Y NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 304 anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) TCTATGATTTCTTATAATTCT 0.443000 77 131 2.14232e-31 2.27685e-31 1 1 0 ST18 9705 broad.mit.edu 37 8 53025874 53025874 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:53025874C>T ENST00000276480.7 - 26 3711 c.3028G>A c.(3028-3030)Gaa>Aaa p.E1010K NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 1010 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) ACATATGCTTCAAAATTCTGC 0.438000 57 109 0 0 1 0 0 FOXM1 2305 broad.mit.edu 37 12 2968012 2968012 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:2968012G>A ENST00000342628.2 - 10 2311 c.2198C>T c.(2197-2199)tCa>tTa p.S733L FOXM1_ENST00000361953.3_Missense_Mutation_p.S680L|FOXM1_ENST00000359843.3_Missense_Mutation_p.S695L|ITFG2_ENST00000545509.1_Intron NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 695 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) GTCTATATCTGAGGGAGAAGA 0.557000 31 56 0 0 1 0 0 CCDC92 80212 broad.mit.edu 37 12 124422156 124422156 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:124422156C>G ENST00000545135.1 - 3 3690 c.394G>C c.(394-396)Gag>Cag p.E132Q CCDC92_ENST00000238156.3_Missense_Mutation_p.E149Q|CCDC92_ENST00000545891.1_Missense_Mutation_p.E132Q|CCDC92_ENST00000544798.1_Intron Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 149 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) GCCCGCTGCTCCAGCTCGCTA 0.607000 39 89 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11607639 11607639 + Silent SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:11607639C>G ENST00000262442.4 + 25 5339 c.5271C>G c.(5269-5271)ctC>ctG p.L1757L DNAH9_ENST00000454412.2_Silent_p.L1757L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 Stem (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) TGGCCCAGCTCAAAACCCTTA 0.512000 37 96 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39263784 39263784 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr13:39263784C>T ENST00000280481.7 + 1 2519 c.2303C>T c.(2302-2304)tCa>tTa p.S768L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 768 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GACAACCCCTCAGTCGTGGTG 0.547000 37 71 0 0 1 0 0 ADCK3 56997 broad.mit.edu 37 1 227170378 227170378 + Splice_Site SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:227170378G>C ENST00000366779.1 + 12 3624 c.e12-1 ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366777.3_Splice_Site|ADCK3_ENST00000366778.1_Splice_Site|ADCK3_ENST00000458507.2_Splice_Site|ADCK3_ENST00000433743.2_Splice_Site Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 CTGCCTTCCAGATGATGCCTT 0.612000 22 88 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111398939 111398939 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:111398939C>A ENST00000535254.1 - 21 2735 c.2668G>T c.(2668-2670)Gac>Tac p.D890Y BUB1_ENST00000302759.6_Missense_Mutation_p.D910Y|BUB1_ENST00000478175.1_5'UTR|BUB1_ENST00000409311.1_Intron NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 910 Protein kinase. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) ATTTCACAGTCATGCACTTGC 0.378000 61 79 2.5401e-28 2.69115e-28 1 1 0 SNX29 92017 broad.mit.edu 37 16 12172749 12172749 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr16:12172749C>T ENST00000566228.1 + 11 1448 c.1379C>T c.(1378-1380)tCa>tTa p.S460L SNX29_ENST00000306030.3_Missense_Mutation_p.S75L|SNX29_ENST00000323433.4_Missense_Mutation_p.S75L NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 75 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 CCTTCTGCCTCAGTGCCAGAG 0.562000 11 5 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77301812 77301812 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:77301812G>A ENST00000341514.6 + 23 4403 c.4248G>A c.(4246-4248)gaG>gaA p.E1416E ATP7A_ENST00000343533.5_Silent_p.E1338E|ATP7A_ENST00000350425.4_Silent_p.E419E NM_000052.5 NP_000043.4 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 1416 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 CAACTTACGAGAGTTATGAAC 0.408000 116 47 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132226195 132226195 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:132226195G>C ENST00000260818.6 + 43 5361 c.5113G>C c.(5113-5115)Gag>Cag p.E1705Q NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1705 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TTTCCAACTGGAGGTAAGCTC 0.338000 58 128 0 0 1 0 0 MANEA 79694 broad.mit.edu 37 6 96034700 96034700 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:96034700G>C ENST00000358812.4 + 2 519 c.385G>C c.(385-387)Gag>Cag p.E129Q MANEA_ENST00000369293.1_Missense_Mutation_p.E129Q NM_024641.3 NP_078917.2 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 129 Catalytic (Probable). E -> G (in Ref. 4; CAD97640). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) TCCAGTGTTAGAGCATTGGGA 0.388000 65 116 0 0 1 0 0 HMHA1 23526 broad.mit.edu 37 19 1081901 1081901 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:1081901G>A ENST00000313093.2 + 19 2689 c.2458G>A c.(2458-2460)Gag>Aag p.E820K HMHA1_ENST00000586866.1_Missense_Mutation_p.E824K|HMHA1_ENST00000590577.1_Missense_Mutation_p.E455K|HMHA1_ENST00000543365.1_Missense_Mutation_p.E703K|HMHA1_ENST00000590214.1_Missense_Mutation_p.E847K|HMHA1_ENST00000539243.2_Missense_Mutation_p.E836K|HMHA1_ENST00000536472.1_Missense_Mutation_p.E688K NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 820 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGCTGGTCGAGCTGTCGCA 0.662000 14 13 0 0 1 0 0 SNHG12 85028 broad.mit.edu 37 1 28907554 28907554 + RNA SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:28907554G>C ENST00000488745.1 - 0 1013 SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000384342.1_RNA CTGCAGCTTCGATAAGGGCCA 0.532000 62 68 0 0 1 0 0 C10orf120 399814 broad.mit.edu 37 10 124457657 124457657 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:124457657C>T ENST00000329446.4 - 3 631 c.600G>A c.(598-600)ctG>ctA p.L200L NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 200 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) CCATTGGACCCAGGCCCACCC 0.478000 52 27 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40660725 40660725 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:40660725C>T ENST00000267889.3 + 8 2499 c.2412C>T c.(2410-2412)agC>agT p.S804S NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 804 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TCTCGGCCAGCGGCCCTGAGG 0.667000 39 70 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24885223 24885223 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:24885223C>T ENST00000382554.3 + 9 4586 c.4268C>T c.(4267-4269)tCc>tTc p.S1423F NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1423 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GGCCTCTCATCCCTTCCGTTT 0.622000 27 95 0 0 1 0 0 ELAVL4 1996 broad.mit.edu 37 1 50661353 50661353 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:50661353C>T ENST00000371824.1 + 5 886 c.629C>T c.(628-630)gCc>gTc p.A210V ELAVL4_ENST00000357083.4_Missense_Mutation_p.A227V|ELAVL4_ENST00000371827.1_Missense_Mutation_p.A210V|ELAVL4_ENST00000448907.2_Missense_Mutation_p.A213V|ELAVL4_ENST00000371819.1_Missense_Mutation_p.A215V|ELAVL4_ENST00000371823.4_Missense_Mutation_p.A210V|ELAVL4_ENST00000371821.1_Missense_Mutation_p.A215V P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 210 RRM 2. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 GTGAAGTTTGCCAACAACCCC 0.577000 4 93 0 0 1 0 0 TAS1R3 83756 broad.mit.edu 37 1 1266782 1266782 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:1266782G>A ENST00000339381.5 + 1 89 c.57G>A c.(55-57)acG>acA p.T19T NM_152228.1 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 19 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) ACCCTGGGACGGGGGCCCCAT 0.687000 13 34 0 0 1 0 0 CLEC4D 338339 broad.mit.edu 37 12 8672847 8672847 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:8672847G>A ENST00000299665.2 + 5 603 c.410G>A c.(409-411)aGa>aAa p.R137K NM_080387.4 NP_525126.2 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 137 C-type lectin. innate immune response integral to membrane sugar binding p.R137K(1) large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) TTTCTGGATAGACGGCTTTCC 0.383000 34 55 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518601 113518601 + Nonsense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:113518601G>T ENST00000284601.3 - 4 2614 c.2546C>A c.(2545-2547)tCa>tAa p.S849* NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 849 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 AATGACCCATGAGGATTCTTC 0.373000 71 107 5.61366e-43 6.01337e-43 1 1 0 GALR2 8811 broad.mit.edu 37 17 74073168 74073168 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:74073168C>T ENST00000329003.3 + 2 910 c.820C>T c.(820-822)Cgc>Tgc p.R274C NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 274 digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 TTATGCGCTTCGCATCCTCTC 0.637000 15 21 0 0 1 0 0 SOX10 6663 broad.mit.edu 37 22 38369569 38369569 + Nonsense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr22:38369569G>C ENST00000396884.2 - 4 1616 c.1334C>G c.(1333-1335)tCa>tGa p.S445* SOX10_ENST00000360880.2_Nonsense_Mutation_p.S445*|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron NM_006941.3 NP_008872.1 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 445 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) CTGGGGCCCTGAGGGGCTGGG 0.682000 22 16 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65141988 65141988 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:65141988G>A ENST00000358691.5 - 21 2806 c.2640C>T c.(2638-2640)ttC>ttT p.F880F HELZ_ENST00000580168.1_Silent_p.F881F NM_014877.3 NP_055692 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TGCCCTCATAGAAAAGCTCAG 0.373000 32 50 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 5 17 0.014758 0.0148017 1 1 0 ADH7 131 broad.mit.edu 37 4 100350703 100350703 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr4:100350703C>T ENST00000437033.2 - 2 609 c.106G>A c.(106-108)Gaa>Aaa p.E36K ADH7_ENST00000482593.1_5'UTR|ADH7_ENST00000476959.1_Missense_Mutation_p.E56K|ADH7_ENST00000209665.4_Missense_Mutation_p.E48K P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 48 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) ATGCGAACTTCTTTAGTCTTT 0.408000 19 35 0 0 1 0 0 PNPLA3 80339 broad.mit.edu 37 22 44319842 44319842 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr22:44319842C>A ENST00000216180.3 + 1 224 c.51C>A c.(49-51)ttC>ttA p.F17L PNPLA3_ENST00000423180.2_Missense_Mutation_p.F17L NM_025225.2 NP_079501.2 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 17 Patatin. triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2) 19 Ovarian(80;0.024)|all_neural(38;0.0416) GCTGCGGCTTCCTGGGCTTCT 0.741000 12 5 0.00136819 0.00137428 1 1 0 ADAM21P1 145241 broad.mit.edu 37 14 70712772 70712772 + RNA SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:70712772G>A ENST00000530196.1 - 0 1746 NR_003951.1 CGGTTTCCCTGAGAGTTGATT 0.383000 44 205 0 0 1 0 0 FUNDC2P2 388965 broad.mit.edu 37 2 84517923 84517923 + RNA SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:84517923C>A ENST00000331369.5 + 0 117 CGTGTGTCCTCGCAAGACTAG 0.587000 12 29 3.07112e-06 3.09397e-06 1 1 0 HID1 283987 broad.mit.edu 37 17 72959943 72959943 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:72959943G>A ENST00000425042.2 - 3 356 c.279C>T c.(277-279)atC>atT p.I93I HID1_ENST00000532900.1_5'UTR NM_030630.2 NP_085133.1 HID1 domain containing AGTTCAGGACGATCTGCTTCT 0.657000 35 52 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36499513 36499513 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:36499513C>T ENST00000342292.4 - 1 180 c.160G>A c.(160-162)Gag>Aag p.E54K NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 54 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TCGGCCCCCTCTAGGGGCACC 0.632000 26 56 0 0 1 0 0 DBN1 1627 broad.mit.edu 37 5 176887463 176887463 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:176887463C>A ENST00000292385.5 - 11 1540 c.931G>T c.(931-933)Gat>Tat p.D311Y DBN1_ENST00000393563.4_Missense_Mutation_p.D41Y|DBN1_ENST00000512501.1_Missense_Mutation_p.D41Y|DBN1_ENST00000309007.5_Missense_Mutation_p.D309Y|DBN1_ENST00000393565.1_Missense_Mutation_p.D309Y NM_080881.2 NP_543157 Q16643 DREB_HUMAN drebrin 1 309 actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity actomyosin|cytoplasm|dendrite actin binding|profilin binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2) 25 all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGGGTACATCACAGCTGCCC 0.632000 84 119 8.2577e-42 8.8317e-42 1 1 0 PPP1R12A 4659 broad.mit.edu 37 12 80200099 80200099 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:80200099C>T ENST00000450142.2 - 13 1936 c.1670G>A c.(1669-1671)aGa>aAa p.R557K PPP1R12A_ENST00000261207.5_Missense_Mutation_p.R557K|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000550107.1_Intron|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.R557K|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.R470K NM_002480.2 NP_002471.1 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory subunit 12A 557 Ser/Thr-rich. contractile fiber protein binding|signal transducer activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1) 29 ATCTTGTCTTCTACCAAAGGA 0.368000 39 156 0 0 1 0 0 C17orf77 146723 broad.mit.edu 37 17 72588299 72588299 + Silent SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:72588299C>G ENST00000392620.1 + 3 476 c.114C>G c.(112-114)ctC>ctG p.L38L C17orf77_ENST00000328023.2_Silent_p.L38L|CD300LD_ENST00000375352.1_Intron NM_152460.2 NP_689673.2 Q96MU5 CQ077_HUMAN chromosome 17 open reading frame 77 38 extracellular region breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 CAGCCACACTCACCTGGGAGG 0.562000 33 68 0 0 1 0 0 USP21 27005 broad.mit.edu 37 1 161130470 161130470 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:161130470G>C ENST00000368002.3 + 3 417 c.40G>C c.(40-42)Gag>Cag p.E14Q USP21_ENST00000289865.8_Missense_Mutation_p.E14Q|USP21_ENST00000368001.1_Missense_Mutation_p.E14Q NM_001014443.2 NP_001014443.1 Q9UK80 UBP21_HUMAN ubiquitin specific peptidase 21 14 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCGTACCCGAGAGCCACCTGT 0.622000 28 87 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62285506 62285506 + Silent SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:62285506C>G ENST00000378024.4 - 5 16657 c.16383G>C c.(16381-16383)gtG>gtC p.V5461V AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5461 Gly-rich. nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GGCTCCCTTTCACTTTTGGTC 0.542000 73 92 0 0 1 0 0 LATS1 9113 broad.mit.edu 37 6 150004798 150004798 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:150004798G>A ENST00000543571.1 - 4 1974 c.1427C>T c.(1426-1428)tCt>tTt p.S476F LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.S476F|LATS1_ENST00000392273.3_Missense_Mutation_p.S476F NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 476 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) AGAATTAGCAGAGTGACTTGC 0.433000 116 215 0 0 1 0 0 TEPP 374739 broad.mit.edu 37 16 58018651 58018651 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr16:58018651G>C ENST00000290871.5 + 4 599 c.562G>C c.(562-564)Gag>Cag p.E188Q TEPP_ENST00000441824.2_Missense_Mutation_p.E188Q|TEPP_ENST00000569996.1_3'UTR NM_199046.2 NP_950247.2 Q6URK8 TEPP_HUMAN testis, prostate and placenta expressed 188 extracellular region central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 8 GCGCGCCATCGAGGACTGGTC 0.652000 5 2 0 0 1 0 0 RIPK3 11035 broad.mit.edu 37 14 24806655 24806655 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:24806655G>A ENST00000216274.5 - 8 1130 c.912C>T c.(910-912)ttC>ttT p.F304F NM_006871.3 NP_006862.2 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 304 apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GBM - Glioblastoma multiforme(265;0.0181) GCTGAGACAGGAAATCCTTTA 0.493000 85 234 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61560498 61560498 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:61560498C>A ENST00000290866.4 + 9 1475 c.1451C>A c.(1450-1452)cCc>cAc p.P484H ACE_ENST00000428043.1_Missense_Mutation_p.P484H|ACE_ENST00000538928.1_Intron|ACE_ENST00000584529.1_Intron NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 484 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GGGCGTACCCCCCCTTCCCGC 0.562000 103 164 1.48543e-65 1.60388e-65 1 1 0 SLC35C2 51006 broad.mit.edu 37 20 44986356 44986356 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr20:44986356G>C ENST00000372227.1 - 3 717 c.177C>G c.(175-177)ttC>ttG p.F59L SLC35C2_ENST00000317734.8_Missense_Mutation_p.F59L|SLC35C2_ENST00000372229.1_Intron|SLC35C2_ENST00000243896.2_Missense_Mutation_p.F59L|SLC35C2_ENST00000372230.5_Missense_Mutation_p.F59L|SLC35C2_ENST00000543605.1_Missense_Mutation_p.F88L NM_001281458.1|NM_001281460.1 NP_001268387.1|NP_001268389.1 Q9NQQ7 S35C2_HUMAN solute carrier family 35 (GDP-fucose transporter), member C2 59 transport integral to membrane cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 16 Myeloproliferative disorder(115;0.0122) ACAGGGCGGAGAAGAGGAAGA 0.607000 27 74 0 0 1 0 0 DDB1 1642 broad.mit.edu 37 11 61083760 61083760 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:61083760G>C ENST00000301764.7 - 12 1804 c.1407C>G c.(1405-1407)atC>atG p.I469M DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 469 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 TTATCACCTGGATAAGCTGCT 0.433000 Nucleotide excision repair (NER) 119 256 0 0 1 0 0 ANKRD50 57182 broad.mit.edu 37 4 125590361 125590361 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr4:125590361C>G ENST00000504087.1 - 4 5108 c.4071G>C c.(4069-4071)aaG>aaC p.K1357N ANKRD50_ENST00000515641.1_Missense_Mutation_p.K1178N NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1357 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 TTCCATTTCTCTTCTTCTGTT 0.403000 49 132 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220479221 220479221 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:220479221C>T ENST00000456909.1 + 23 2912 c.2822C>T c.(2821-2823)tCc>tTc p.S941F STK11IP_ENST00000295641.10_Missense_Mutation_p.S952F Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 952 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAAGACTCATCCTTGGAGGCT 0.542000 20 17 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110932475 110932475 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr4:110932475G>A ENST00000265171.5 + 24 3933 c.3488G>A c.(3487-3489)cGa>cAa p.R1163Q EGF_ENST00000503392.1_Missense_Mutation_p.R1122Q|EGF_ENST00000509793.1_Missense_Mutation_p.R1121Q NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 1163 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GTAATGGAGCGAAGCTTTCAT 0.542000 39 74 0 0 1 0 0 SUN5 140732 broad.mit.edu 37 20 31571699 31571699 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr20:31571699C>T ENST00000356173.3 - 13 1133 c.1041G>A c.(1039-1041)ggG>ggA p.G347G SUN5_ENST00000375523.3_Silent_p.G322G NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 347 SUN. spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 AGCCTGGGTTCCCCCAGTTGC 0.587000 62 111 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7667185 7667185 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:7667185G>C ENST00000572933.1 + 19 4475 c.3015G>C c.(3013-3015)gaG>gaC p.E1005D DNAH2_ENST00000389173.2_Missense_Mutation_p.E1005D Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1005 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGAAGGAGGAGACAGTCACCA 0.522000 47 90 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7809086 7809086 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:7809086G>C ENST00000315599.7 - 6 942 c.920C>G c.(919-921)tCt>tGt p.S307C CD209_ENST00000394173.4_Missense_Mutation_p.S146C|CD209_ENST00000601951.1_Missense_Mutation_p.S283C|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Splice_Site_p.S301C|CD209_ENST00000593660.1_Missense_Mutation_p.S237C|CD209_ENST00000204801.8_Missense_Mutation_p.S263C|CD209_ENST00000315591.8_Missense_Mutation_p.S283C|CD209_ENST00000593821.1_Missense_Mutation_p.S171C|CD209_ENST00000601256.1_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.S215C|CD209_ENST00000301357.8_Missense_Mutation_p.S171C NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 307 C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 ACTTCTGGAAGACTGCAGCTG 0.537000 40 66 0 0 1 0 0 PITRM1 10531 broad.mit.edu 37 10 3180444 3180444 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:3180444G>A ENST00000380989.2 - 26 3044 c.3006C>T c.(3004-3006)ctC>ctT p.L1002L PITRM1_ENST00000224949.4_Silent_p.L1001L|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Silent_p.L903L|PITRM1_ENST00000380994.1_Silent_p.L559L NM_001242307.1|NM_014889.3 NP_001229236.1|NP_055704.2 E7ES23 E7ES23_HUMAN pitrilysin metallopeptidase 1 903 proteolysis metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 TCACGGCCAGGAGCTTGTCGT 0.587000 25 49 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170828529 170828529 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:170828529C>T ENST00000436636.2 - 19 2602 c.2258G>A c.(2257-2259)gGa>gAa p.G753E TNIK_ENST00000475336.1_Missense_Mutation_p.G669E|TNIK_ENST00000357327.5_Missense_Mutation_p.G724E|TNIK_ENST00000341852.6_Missense_Mutation_p.G669E|TNIK_ENST00000460047.1_Missense_Mutation_p.G698E|TNIK_ENST00000538048.1_Missense_Mutation_p.G698E|TNIK_ENST00000488470.1_Missense_Mutation_p.G698E|TNIK_ENST00000284483.8_Missense_Mutation_p.G753E|TNIK_ENST00000470834.1_Missense_Mutation_p.G724E|TNIK_ENST00000369326.5_Missense_Mutation_p.G724E NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 753 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TTCACTGGATCCTGCTTGTGA 0.557000 6 6 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38793964 38793964 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:38793964G>A ENST00000449082.2 - 11 1500 c.1501C>T c.(1501-1503)Cat>Tat p.H501Y NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 501 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) ACACTGCCATGACTAGCCCGG 0.557000 16 22 0 0 1 0 0 LIPT1 51601 broad.mit.edu 37 2 99778643 99778643 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:99778643G>C ENST00000393477.3 + 4 575 c.223G>C c.(223-225)Ggt>Cgt p.G75R LIPT1_ENST00000393474.3_Missense_Mutation_p.G75R|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393473.2_Missense_Mutation_p.G75R|LIPT1_ENST00000340066.1_Missense_Mutation_p.G75R|LIPT1_ENST00000393471.2_Missense_Mutation_p.G75R NM_145197.2 NP_660198.1 Q9Y234 LIPT_HUMAN lipoyltransferase 1 75 lipid metabolic process|protein lipoylation mitochondrion acyltransferase activity large_intestine(6)|lung(1) 7 Lipoic Acid(DB00166) TGTTGTAATTGGTAGGCATCA 0.418000 76 105 0 0 1 0 0 PPAPDC3 84814 broad.mit.edu 37 9 134165483 134165483 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr9:134165483G>A ENST00000372264.3 + 1 403 c.99G>A c.(97-99)ccG>ccA p.P33P PPAPDC3_ENST00000372261.1_Silent_p.P33P NM_032728.3 NP_116117.3 Q8NBV4 PPAC3_HUMAN phosphatidic acid phosphatase type 2 domain containing 3 33 endoplasmic reticulum membrane|integral to membrane|nuclear envelope hydrolase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_hematologic(7;0.0119) OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173) AGGGGGGCCCGGAGCCCCGCA 0.711000 15 26 0 0 1 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77044007 77044007 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:77044007G>A ENST00000339142.2 + 5 1238 c.683G>A c.(682-684)cGc>cAc p.R228H C1QTNF1_ENST00000580454.1_Missense_Mutation_p.R228H|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.R228H|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.R228H|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.R146H|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.R228H|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.R228H|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.R146H|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.R228H|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.R238H NM_198593.3 NP_940995.1 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 228 C1q. collagen breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) GTGGGCGACCGCAGCATCATG 0.582000 32 48 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64601703 64601703 + Missense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:64601703G>T ENST00000498707.1 - 20 3299 c.2957C>A c.(2956-2958)cCa>cAa p.P986Q ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P958Q NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 986 TSP type-1 3. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) ACGGTTGCTTGGTTTGGGATG 0.493000 169 236 6.98292e-63 7.52777e-63 1 1 0 ANKRD30A 91074 broad.mit.edu 37 10 37447345 37447345 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:37447345G>C ENST00000374660.1 + 14 1755 c.1656G>C c.(1654-1656)ctG>ctC p.L552L ANKRD30A_ENST00000361713.1_Silent_p.L552L|ANKRD30A_ENST00000602533.1_Silent_p.L552L Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 608 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 ATGGTCTTCTGAAGGTAATAA 0.308000 60 117 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22864359 22864359 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:22864359G>C ENST00000283645.4 + 16 2447 c.2317G>C c.(2317-2319)Gat>Cat p.D773H TUBGCP5_ENST00000453949.2_Missense_Mutation_p.D773H NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 773 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) TTATCCTGAAGATAGTTCACG 0.343000 26 64 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52884379 52884379 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:52884379C>T ENST00000330722.6 - 5 1119 c.1051G>A c.(1051-1053)Gag>Aag p.E351K NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 351 Coil 2.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GACTCAGCCTCAGCCCGGCTT 0.572000 109 184 0 0 1 0 0 CCDC82 79780 broad.mit.edu 37 11 96092326 96092326 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:96092326C>G ENST00000278520.5 - 8 1825 c.1397G>C c.(1396-1398)aGa>aCa p.R466T CCDC82_ENST00000542662.1_Missense_Mutation_p.R466T|CCDC82_ENST00000423339.2_Missense_Mutation_p.R466T Q8N4S0 CCD82_HUMAN coiled-coil domain containing 82 466 protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.154) GGCACAAATTCTGCCAACAGT 0.323000 22 20 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25950446 25950446 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:25950446C>G ENST00000578981.1 + 2 346 c.168C>G c.(166-168)atC>atG p.I56M KSR1_ENST00000319524.6_3'UTR|KSR1_ENST00000582410.1_3'UTR|KSR1_ENST00000398988.3_3'UTR|AC015688.3_ENST00000584605.1_Missense_Mutation_p.I19M Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 0 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CGCTGCTGATCTCTTTCTTTT 0.478000 17 22 0 0 1 0 0 LATS1 9113 broad.mit.edu 37 6 150004840 150004840 + Nonsense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:150004840G>C ENST00000543571.1 - 4 1932 c.1385C>G c.(1384-1386)tCa>tGa p.S462* LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Nonsense_Mutation_p.S462*|LATS1_ENST00000392273.3_Nonsense_Mutation_p.S462* NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 462 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) AAAAGAATTTGACCTCACTGG 0.453000 125 249 0 0 1 0 0 HSPB9 94086 broad.mit.edu 37 17 40275082 40275082 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:40275082G>A ENST00000355067.3 + 1 327 c.214G>A c.(214-216)Gtg>Atg p.V72M CTD-2132N18.3_ENST00000592574.1_Intron NM_033194.2 NP_149971.1 Q9BQS6 HSPB9_HUMAN heat shock protein, alpha-crystallin-related, B9 72 response to stress cytoplasm|nucleus protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 4 all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866) BRCA - Breast invasive adenocarcinoma(366;0.124) GGTGGTGCAGGTGGATGGCCA 0.592000 47 97 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70823810 70823810 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:70823810G>A ENST00000373695.1 + 7 1220 c.683G>A c.(682-684)aGc>aAc p.S228N ACRC_ENST00000373696.3_Missense_Mutation_p.S228N Q96QF7 ACRC_HUMAN acidic repeat containing 228 Asp/Ser-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) CCCGACGACAGCAGTGATGAT 0.517000 7 419 0 0 1 0 0 SLC2A7 155184 broad.mit.edu 37 1 9083072 9083072 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:9083072G>A ENST00000400906.1 - 3 215 c.216C>T c.(214-216)ctC>ctT p.L72L NM_207420.2 NP_997303.2 Q6PXP3 GTR7_HUMAN solute carrier family 2 (facilitated glucose transporter), member 7 72 integral to membrane|plasma membrane sugar transmembrane transporter activity NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2) 24 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) GAAGCAGCATGAGCTTCCCGT 0.507000 90 84 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23872566 23872566 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:23872566C>G ENST00000405093.3 - 10 959 c.889G>C c.(889-891)Gag>Cag p.E297Q MYH6_ENST00000356287.3_Missense_Mutation_p.E297Q NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 297 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCCAGCAACTCCGGCTTCTTG 0.602000 132 186 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34051036 34051036 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr21:34051036C>T ENST00000382499.2 - 12 1545 c.1546G>A c.(1546-1548)Gat>Aat p.D516N SYNJ1_ENST00000357345.3_Missense_Mutation_p.D477N|SYNJ1_ENST00000433931.2_Missense_Mutation_p.D516N|SYNJ1_ENST00000382491.3_Missense_Mutation_p.D480N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D477N NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 477 Catalytic (Potential). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 AGCAAAACATCAATGGCCTCT 0.408000 38 106 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138414422 138414422 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:138414422G>C ENST00000409968.1 + 23 4340 c.4162G>C c.(4162-4164)Gat>Cat p.D1388H THSD7B_ENST00000413152.2_Missense_Mutation_p.D1360H|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.D1391H 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) AACCTGCATTGATGGAAGAAG 0.458000 40 55 0 0 1 0 0 C19orf53 28974 broad.mit.edu 37 19 13888913 13888913 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:13888913G>A ENST00000588234.1 + 3 511 c.201G>A c.(199-201)atG>atA p.M67I C19orf53_ENST00000593274.1_Missense_Mutation_p.M24I NM_014047.2 NP_054766.1 Q9UNZ5 L10K_HUMAN chromosome 19 open reading frame 53 67 breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19) ACGTGGTGATGAAAGCCAGCA 0.592000 47 90 0 0 1 0 0 SFRP2 6423 broad.mit.edu 37 4 154709787 154709787 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr4:154709787C>G ENST00000274063.4 - 1 485 c.201G>C c.(199-201)gaG>gaC p.E67D NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 67 FZ. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) CCTTCATGGTCTCGTGGCCCA 0.622000 35 74 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130187926 130187926 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:130187926G>C ENST00000265379.6 + 38 7572 c.7078G>C c.(7078-7080)Gat>Cat p.D2360H COL6A5_ENST00000432398.2_Missense_Mutation_p.D2360H A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2360 Nonhelical region.|VWFA 10. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 CCTGGAATTTGATTTGGTTAC 0.453000 16 32 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139410068 139410068 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr9:139410068G>C ENST00000277541.6 - 11 1845 c.1770C>G c.(1768-1770)ctC>ctG p.L590L NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 590 EGF-like 15; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CTGGGCGGCAGAGGCAGGTGA 0.687000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 6 18 0 0 1 0 0 GNE 10020 broad.mit.edu 37 9 36236873 36236873 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr9:36236873G>A ENST00000396594.3 - 4 929 c.818C>T c.(817-819)tCa>tTa p.S273L GNE_ENST00000447283.2_Missense_Mutation_p.S242L|GNE_ENST00000539815.1_Missense_Mutation_p.S242L|GNE_ENST00000543356.2_Missense_Mutation_p.S237L|GNE_ENST00000377902.5_Missense_Mutation_p.S242L|GNE_ENST00000539208.1_Intron NM_001128227.2 NP_001121699.1 Q9Y223 GLCNE_HUMAN glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 242 cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 STAD - Stomach adenocarcinoma(86;0.228) CTTGTTAAATGAGATAAGTGC 0.348000 38 51 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60898905 60898905 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr20:60898905C>T ENST00000252999.3 - 44 5842 c.5776G>A c.(5776-5778)Gag>Aag p.E1926K NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 1926 Laminin EGF-like 18. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACACAGCCCTCGGCGAAGCTG 0.687000 10 11 0 0 1 0 0 LTB4R2 56413 broad.mit.edu 37 14 24780920 24780920 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:24780920G>A ENST00000528054.1 + 1 2760 c.1143G>A c.(1141-1143)gaG>gaA p.E381E LTB4R2_ENST00000533293.1_Silent_p.E350E|LTB4R_ENST00000345363.3_5'UTR|LTB4R2_ENST00000543919.1_Silent_p.E350E Q9NPC1 LT4R2_HUMAN leukotriene B4 receptor 2 381 chemotaxis|negative regulation of adenylate cyclase activity integral to plasma membrane endometrium(1)|lung(1)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.018) GTGGGATGGAGAAGGACGGTC 0.647000 34 44 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 88 0 0 1 0 0 CRNKL1 51340 broad.mit.edu 37 20 20018015 20018015 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr20:20018015G>C ENST00000377340.2 - 14 2362 c.2331C>G c.(2329-2331)ctC>ctG p.L777L CRNKL1_ENST00000377327.4_Silent_p.L765L|CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000536226.1_Silent_p.L616L NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 777 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 TCTCTGGCATGAGTTTGTCTA 0.438000 109 203 0 0 1 0 0 DDX51 317781 broad.mit.edu 37 12 132625036 132625036 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:132625036G>A ENST00000397333.3 - 11 1643 c.1605C>T c.(1603-1605)ttC>ttT p.F535F NM_175066.3 NP_778236.2 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 535 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) AGCGCGAGGAGAACTCAGCCA 0.612000 10 74 0 0 1 0 0 CDK17 5128 broad.mit.edu 37 12 96692698 96692698 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:96692698C>T ENST00000261211.3 - 7 1267 c.664G>A c.(664-666)Gag>Aag p.E222K CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000543119.2_Missense_Mutation_p.E222K|CDK17_ENST00000542666.1_Missense_Mutation_p.E169K NM_001170464.2|NM_002595.4 NP_001163935.1|NP_002586.2 Q00537 CDK17_HUMAN cyclin-dependent kinase 17 222 Protein kinase. ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 AATCGGATCTCTTTTAATGCC 0.323000 39 58 0 0 1 0 0 MIB1 57534 broad.mit.edu 37 18 19358105 19358105 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr18:19358105C>G ENST00000261537.6 + 5 942 c.678C>G c.(676-678)ttC>ttG p.F226L MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 226 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) GAGGTTCTTTCTACAGAGATC 0.393000 59 93 0 0 1 0 0 OR51V1 283111 broad.mit.edu 37 11 5221421 5221421 + Silent SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:5221421G>T ENST00000321255.1 - 1 509 c.510C>A c.(508-510)atC>atA p.I170I NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 170 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTTCAGACAGATGATGGGGG 0.398000 46 71 1.06522e-23 1.12329e-23 1 1 0 TTN 7273 broad.mit.edu 37 2 179400910 179400910 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:179400910G>A ENST00000589042.1 - 357 100788 c.100564C>T c.(100564-100566)Cat>Tat p.H33522Y TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H24649Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H30954Y|TTN_ENST00000460472.2_Missense_Mutation_p.H24457Y|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H31881Y|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H24582Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31881 Ig-like 147. 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) GGTTTTGGATGACCAGTCACT 0.403000 18 25 0 0 1 0 0 PIK3IP1 113791 broad.mit.edu 37 22 31685334 31685334 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr22:31685334C>G ENST00000215912.5 - 5 737 c.554G>C c.(553-555)gGa>gCa p.G185A PIK3IP1_ENST00000441972.1_Intron|PIK3IP1_ENST00000402249.3_Missense_Mutation_p.G185A|PIK3IP1_ENST00000487265.2_Missense_Mutation_p.G106A NM_052880.4 NP_443112.2 Q96FE7 P3IP1_HUMAN phosphoinositide-3-kinase interacting protein 1 185 integral to membrane large_intestine(2)|lung(1)|ovary(1) 4 GATGCCAGCTCCGATGGCAAT 0.507000 18 21 0 0 1 0 0 MIR7162 102466227 broad.mit.edu 37 15 62539297 62539297 + RNA SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:62539297C>T ENST00000570077.1 - 0 292 CTCTCTCCTCCCTCAACGTGT 0.607000 13 20 0 0 1 0 0 TMPRSS11D 9407 broad.mit.edu 37 4 68691546 68691546 + Silent SNP A A G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr4:68691546A>G ENST00000283916.6 - 9 1097 c.999T>C c.(997-999)agT>agC p.S333S TMPRSS11D_ENST00000545541.1_Silent_p.S216S|UBA6-AS1_ENST00000500538.2_RNA NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 333 Peptidase S1. proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 ATACATCATTACTTATTATTC 0.413000 39 55 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103863 53103863 + Nonsense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:53103863C>T ENST00000408890.4 + 1 515 c.499C>T c.(499-501)Cag>Tag p.Q167* NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 167 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 ccccgccgcccAGGAGCTCCT 0.721000 19 17 0 0 1 0 0 PCDHGA11 56105 broad.mit.edu 37 5 140801036 140801036 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:140801036G>A ENST00000398587.2 + 1 275 c.242G>A c.(241-243)cGa>cAa p.R81Q PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.R81Q|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGAATCCGCGAAGCGGCAGC 0.577000 62 105 0 0 1 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79943433 79943433 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:79943433C>T ENST00000306729.7 + 4 421 c.324C>T c.(322-324)ttC>ttT p.F108F ASPSCR1_ENST00000306739.4_Silent_p.F108F|ASPSCR1_ENST00000581647.1_Silent_p.F108F|ASPSCR1_ENST00000580534.1_Silent_p.F31F NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 108 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) AGGACTCTTTCTGTTCAGGCC 0.527000 T TFE3 alveolar soft part sarcoma 43 61 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11362826 11362826 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:11362826G>A ENST00000294618.7 - 5 487 c.476C>T c.(475-477)tCt>tTt p.S159F NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 159 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 CTCGTCTCCAGAAGCATCCTG 0.622000 7 8 0 0 1 0 0 ZNF345 25850 broad.mit.edu 37 19 37368114 37368114 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:37368114G>C ENST00000529555.1 + 2 1170 c.382G>C c.(382-384)Ggt>Cgt p.G128R ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.G128R|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.G128R Q14585 ZN345_HUMAN zinc finger protein 345 128 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAAGGCCTTTGGTAGTGGCTC 0.438000 54 106 0 0 1 0 0 BAHD1 22893 broad.mit.edu 37 15 40756200 40756200 + Silent SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:40756200C>G ENST00000561234.1 + 4 2212 c.1953C>G c.(1951-1953)ctC>ctG p.L651L BAHD1_ENST00000416165.1_Silent_p.L652L|BAHD1_ENST00000560846.1_Silent_p.L652L Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 652 BAH. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) TCTCTGCCCTCTGGGAGAACC 0.607000 30 32 0 0 1 0 0 ARMCX1 51309 broad.mit.edu 37 X 100808511 100808511 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:100808511G>A ENST00000372829.3 + 4 969 c.598G>A c.(598-600)Gat>Aat p.D200N NM_016608.1 NP_057692.1 Q9P291 ARMX1_HUMAN armadillo repeat containing, X-linked 1 200 integral to membrane binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1) 19 TAAAATTGATGATATTCTGAG 0.468000 131 46 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49669905 49669905 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr16:49669905G>C ENST00000561648.1 - 4 3211 c.3158C>G c.(3157-3159)tCc>tGc p.S1053C ZNF423_ENST00000262383.2_Missense_Mutation_p.S1053C|ZNF423_ENST00000562520.1_Missense_Mutation_p.S993C|ZNF423_ENST00000535559.1_Missense_Mutation_p.S936C|ZNF423_ENST00000562871.1_Missense_Mutation_p.S993C|ZNF423_ENST00000567169.1_Missense_Mutation_p.S936C|ZNF423_ENST00000563137.2_Missense_Mutation_p.S993C NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1053 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) ATTGGGGGAGGACGCCGCTGA 0.602000 6 43 0 0 1 0 0 AP5Z1 9907 broad.mit.edu 37 7 4823978 4823978 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:4823978G>A ENST00000348624.4 + 6 860 c.766G>A c.(766-768)Gag>Aag p.E256K AP5Z1_ENST00000401897.1_Missense_Mutation_p.E256K NM_014855.2 NP_055670.1 O43299 K0415_HUMAN adaptor-related protein complex 5, zeta 1 subunit 256 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding CAGCGGCCCCGAGGGCCCGGG 0.692000 10 18 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46231142 46231142 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:46231142G>C ENST00000334344.6 + 9 1234 c.1062G>C c.(1060-1062)ctG>ctC p.L354L ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Silent_p.L205L NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 354 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CTACTCATCTGATGTTTCATA 0.318000 """N, S, F""" hepatocellular carcinoma 70 144 0 0 1 0 0 IKZF2 22807 broad.mit.edu 37 2 213914550 213914550 + Missense_Mutation SNP T T C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:213914550T>C ENST00000457361.1 - 5 629 c.461A>G c.(460-462)aAc>aGc p.N154S IKZF2_ENST00000342002.2_Missense_Mutation_p.N160S|IKZF2_ENST00000434687.1_Missense_Mutation_p.N154S|IKZF2_ENST00000413091.3_Missense_Mutation_p.N154S|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Missense_Mutation_p.N128S|IKZF2_ENST00000451136.2_Missense_Mutation_p.N128S|IKZF2_ENST00000374319.4_Missense_Mutation_p.N128S NM_016260.2 NP_057344.2 Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) TCTCAGAAGGTTGCCCTTCTG 0.488000 23 18 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71508608 71508608 + Missense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr4:71508608G>T ENST00000396073.3 + 9 1746 c.1465G>T c.(1465-1467)Gat>Tat p.D489Y ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 489 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) TAATTCTGTTGATCAACATGA 0.388000 27 59 1.38267e-23 1.45578e-23 1 1 0 MYO1C 4641 broad.mit.edu 37 17 1381931 1381931 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:1381931G>A ENST00000359786.5 - 10 1515 c.1191C>T c.(1189-1191)atC>atT p.I397I MYO1C_ENST00000545534.2_Silent_p.I373I|MYO1C_ENST00000361007.2_Silent_p.I362I|MYO1C_ENST00000438665.2_Silent_p.I378I|MYO1C_ENST00000575158.1_Silent_p.I362I NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 397 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GCGACCTGTTGATCTTCCCGA 0.677000 30 58 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128477643 128477643 + Missense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:128477643G>T ENST00000322313.4 - 16 2114 c.1956C>A c.(1954-1956)ttC>ttA p.F652L NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 652 Collagen-like. postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GTGGTCCCATGAATCCTTGTG 0.652000 31 60 2.61193e-14 2.68735e-14 1 1 0 RB1 5925 broad.mit.edu 37 13 48881435 48881435 + Nonsense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr13:48881435G>T ENST00000267163.4 + 2 295 c.157G>T c.(157-159)Gaa>Taa p.E53* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 53 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.?(3)|p.E53K(1) 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) TGAAGAAACAGAAGAACCTGA 0.328000 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) 36 104 1.06647e-15 1.10567e-15 1 1 0 NYNRIN 57523 broad.mit.edu 37 14 24878243 24878243 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:24878243G>A ENST00000382554.3 + 4 1561 c.1243G>A c.(1243-1245)Gag>Aag p.E415K NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 415 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CTTAAATCTGGAGTGGAAGCA 0.587000 8 30 0 0 1 0 0 FAM71A 149647 broad.mit.edu 37 1 212798273 212798273 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:212798273G>A ENST00000294829.3 + 1 485 c.54G>A c.(52-54)atG>atA p.M18I RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 18 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) GCTCCAGCATGAGCATGTTCA 0.502000 27 29 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228476442 228476442 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:228476442G>C ENST00000570156.2 + 43 11553 c.11479G>C c.(11479-11481)Gag>Cag p.E3827Q OBSCN_ENST00000422127.1_Missense_Mutation_p.E3398Q|OBSCN_ENST00000359599.6_Missense_Mutation_p.E2245Q|OBSCN_ENST00000366707.4_Missense_Mutation_p.E517Q|OBSCN_ENST00000366709.4_Missense_Mutation_p.E517Q|OBSCN_ENST00000284548.11_Missense_Mutation_p.E3398Q NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2864 Ig-like 39. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GAAGGGGCGTGAGAGCCTCAG 0.627000 22 99 0 0 1 0 0 RBL2 5934 broad.mit.edu 37 16 53496559 53496559 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr16:53496559G>C ENST00000262133.6 + 11 1689 c.1552G>C c.(1552-1554)Gat>Cat p.D518H RBL2_ENST00000544545.1_Missense_Mutation_p.D302H|RBL2_ENST00000379935.4_3'UTR NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 518 Domain A.|Pocket; binds E1A. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 AGGAGACATGGATTTATCTGT 0.328000 38 15 0 0 1 0 0 ABHD17C 58489 broad.mit.edu 37 15 81046550 81046550 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:81046550G>A ENST00000258884.4 + 3 956 c.829G>A c.(829-831)Gag>Aag p.E277K ABHD17C_ENST00000558464.1_Missense_Mutation_p.E243K|ABHD17C_ENST00000560609.1_Missense_Mutation_p.E42K|ABHD17C_ENST00000559506.1_3'UTR NM_021214.1 NP_067037.1 abhydrolase domain containing 17C TACAGAGGATGAGGTCATCGA 0.517000 24 32 0 0 1 0 0 LYG2 254773 broad.mit.edu 37 2 99858936 99858936 + Nonsense_Mutation SNP G G C rs140539656 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:99858936G>C ENST00000333017.2 - 6 642 c.530C>G c.(529-531)tCa>tGa p.S177* LYG2_ENST00000423800.1_3'UTR|LYG2_ENST00000409238.1_Nonsense_Mutation_p.S177* NM_175735.3 NP_783862.2 Q86SG7 LYG2_HUMAN lysozyme G-like 2 177 GLSAFKSG -> RLYSEYFY (in Ref. 4). cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1) 12 CTTAAAAGCTGAGAGACCACC 0.388000 83 163 0 0 1 0 0 PMS2CL 441194 broad.mit.edu 37 7 6777425 6777425 + RNA SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:6777425C>G ENST00000486256.1 + 0 1552 NR_002217.1 CTGAACTTTTCTGAGTTCTTT 0.393000 48 74 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72030746 72030746 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:72030746C>T ENST00000378743.3 - 8 2177 c.1819G>A c.(1819-1821)Gaa>Aaa p.E607K NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 607 Pro-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 TCTGGATCTTCAGGTGGGAGA 0.453000 112 93 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810602 7810602 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:7810602G>A ENST00000315599.7 - 4 572 c.550C>T c.(550-552)Cca>Tca p.P184S CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.P160S|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.P184S|CD209_ENST00000593660.1_Missense_Mutation_p.P160S|CD209_ENST00000204801.8_Missense_Mutation_p.P140S|CD209_ENST00000315591.8_Missense_Mutation_p.P160S|CD209_ENST00000593821.1_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.P160S|CD209_ENST00000602261.1_Intron|CD209_ENST00000301357.8_Intron NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 184 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GATTTCTCTGGAAGCTCACCC 0.547000 96 207 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104750987 104750987 + Nonsense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:104750987C>G ENST00000311117.3 + 25 4453 c.3908C>G c.(3907-3909)tCa>tGa p.S1303* KMT2E_ENST00000334914.7_Nonsense_Mutation_p.S358*|KMT2E_ENST00000334877.4_Intron|KMT2E_ENST00000257745.4_Nonsense_Mutation_p.S1303* NM_182931.2 NP_891847.1 lysine (K)-specific methyltransferase 2E TCATCTCATTCAAATCACATA 0.438000 62 109 0 0 1 0 0 LGI3 203190 broad.mit.edu 37 8 22006323 22006323 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:22006323C>G ENST00000306317.2 - 8 1286 c.997G>C c.(997-999)Gaa>Caa p.E333Q LGI3_ENST00000424267.2_Missense_Mutation_p.E309Q NM_139278.2 NP_644807.1 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 333 exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 17 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) CGGAAGGCTTCTAGGTCGTTA 0.597000 21 11 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74474302 74474302 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:74474302G>A ENST00000394019.2 - 19 2317 c.1920C>T c.(1918-1920)ttC>ttT p.F640F SLC4A5_ENST00000357822.5_Silent_p.F640F|SLC4A5_ENST00000359484.4_Silent_p.F576F|SLC4A5_ENST00000377634.4_Silent_p.F640F|SLC4A5_ENST00000346834.4_Silent_p.F640F|SLC4A5_ENST00000358683.4_Silent_p.F576F|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Silent_p.F640F|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_Silent_p.F640F NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 640 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TAAGGGTGGAGAAGCCCTCCT 0.473000 93 163 0 0 1 0 0 NELFE 7936 broad.mit.edu 37 6 31922575 31922575 + Missense_Mutation SNP C C G rs55821537 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:31922575C>G ENST00000375429.3 - 7 725 c.499G>C c.(499-501)Gac>Cac p.D167H NELFE_ENST00000444811.2_Missense_Mutation_p.D137H|NELFE_ENST00000375425.5_Missense_Mutation_p.D174H NM_002904.5 NP_002895.3 negative elongation factor complex member E TAGCCCCAGTCAAAGCTTCGA 0.622000 68 120 0 0 1 0 0 SAAL1 113174 broad.mit.edu 37 11 18124839 18124839 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:18124839C>T ENST00000524803.1 - 2 239 c.190G>A c.(190-192)Gag>Aag p.E64K SAAL1_ENST00000529318.1_Missense_Mutation_p.E64K|SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000300013.4_Missense_Mutation_p.E64K Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 64 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 TCATCAAGCTCCGTCAGCTGC 0.398000 57 117 0 0 1 0 0 SMCR8 140775 broad.mit.edu 37 17 18220896 18220896 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:18220896C>T ENST00000406438.3 + 1 2273 c.1793C>T c.(1792-1794)cCc>cTc p.P598L NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 598 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 TTGGTGCTGCCCTCCACTCCA 0.572000 27 48 0 0 1 0 0 FANCM 57697 broad.mit.edu 37 14 45623214 45623214 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:45623214C>T ENST00000267430.5 + 6 1227 c.1142C>T c.(1141-1143)tCa>tTa p.S381L FANCM_ENST00000556036.1_Missense_Mutation_p.S381L|FANCM_ENST00000542564.2_Missense_Mutation_p.S355L NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 381 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 GGAATGAGATCATTATATTTC 0.284000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 74 64 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4207244 4207244 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:4207244G>A ENST00000600132.1 + 8 748 c.472G>A c.(472-474)Ggt>Agt p.G158S ANKRD24_ENST00000318934.4_Missense_Mutation_p.G158S|ANKRD24_ENST00000262970.5_Missense_Mutation_p.G248S NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 158 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) TGCAGCGGCTGGTGGCTGTCT 0.542000 OREG0025162 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 26 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32156646 32156646 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr22:32156646C>G ENST00000400246.1 + 4 293 c.151C>G c.(151-153)Ctg>Gtg p.L51V DEPDC5_ENST00000266091.3_Missense_Mutation_p.L51V|DEPDC5_ENST00000400248.2_Missense_Mutation_p.L51V|DEPDC5_ENST00000536766.1_Missense_Mutation_p.L51V|DEPDC5_ENST00000400242.3_Missense_Mutation_p.L51V|DEPDC5_ENST00000382112.3_Missense_Mutation_p.L51V|DEPDC5_ENST00000535622.1_Missense_Mutation_p.L51V|DEPDC5_ENST00000400249.2_Missense_Mutation_p.L51V|DEPDC5_ENST00000382105.2_Missense_Mutation_p.L51V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.L51V O75140 DEPD5_HUMAN DEP domain containing 5 51 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TTTCAGCCCTCTGCTTTTGCA 0.408000 34 41 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11313334 11313334 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:11313334C>T ENST00000294618.7 - 42 5298 c.5287G>A c.(5287-5289)Gac>Aac p.D1763N DOCK6_ENST00000586702.1_5'UTR|DOCK6_ENST00000319867.7_Missense_Mutation_p.D1102N NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1763 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 TCATCCAGGTCACCGAAGTGG 0.617000 98 141 0 0 1 0 0 RAB10 10890 broad.mit.edu 37 2 26332716 26332716 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:26332716G>A ENST00000264710.4 + 3 767 c.268G>A c.(268-270)Gac>Aac p.D90N RAB10_ENST00000462003.1_3'UTR NM_016131.4 NP_057215.3 P61026 RAB10_HUMAN RAB10, member RAS oncogene family 90 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTAGTATATGACATCACCAA 0.403000 40 72 0 0 1 0 0 ECT2L 345930 broad.mit.edu 37 6 139202233 139202233 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:139202233C>T ENST00000423192.1 + 14 1966 c.1805C>T c.(1804-1806)tCa>tTa p.S602L ECT2L_ENST00000367682.2_Missense_Mutation_p.S602L|ECT2L_ENST00000541398.1_Missense_Mutation_p.S533L Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 602 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 GCATTGTCATCAAACAGAGCG 0.383000 """N, Splice, Mis""" ETP ALL 31 52 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57287728 57287728 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:57287728G>A ENST00000543872.2 + 2 580 c.316G>A c.(316-318)Gag>Aag p.E106K SMG8_ENST00000300917.5_Missense_Mutation_p.E106K|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.E106K|SMG8_ENST00000580498.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 106 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 CGGTGGAGCCGAGGACCCTGG 0.637000 14 26 0 0 1 0 0 HARS 3035 broad.mit.edu 37 5 140056626 140056626 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:140056626C>G ENST00000504366.1 - 8 2511 c.692G>C c.(691-693)gGa>gCa p.G231A HARS_ENST00000431330.2_Missense_Mutation_p.G186A|HARS_ENST00000448240.1_Missense_Mutation_p.G105A|HARS_ENST00000307633.3_Missense_Mutation_p.G240A|HARS_ENST00000415192.2_Missense_Mutation_p.G226A|HARS_ENST00000457527.2_Missense_Mutation_p.G280A|HARS_ENST00000438307.2_Missense_Mutation_p.G260A|HARS_ENST00000504156.1_Missense_Mutation_p.G300A P12081 SYHC_HUMAN histidyl-tRNA synthetase 300 histidyl-tRNA aminoacylation cytosol ATP binding|histidine-tRNA ligase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) L-Histidine(DB00117) CTTCAGGTCTCCCAGGCCCTC 0.542000 147 243 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13839557 13839557 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:13839557C>T ENST00000265104.4 - 35 5894 c.5790G>A c.(5788-5790)aaG>aaA p.K1930K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1930 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GAATCATCATCTTGTCAGAAT 0.388000 Kartagener syndrome 22 46 0 0 1 0 0 AXDND1 126859 broad.mit.edu 37 1 179348604 179348604 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:179348604G>C ENST00000367618.3 + 6 955 c.568G>C c.(568-570)Gag>Cag p.E190Q AXDND1_ENST00000457238.2_Missense_Mutation_p.E190Q|AXDND1_ENST00000461179.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 190 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 TTCAGGTTTGGAGTGTTATGA 0.413000 15 57 0 0 1 0 0 TIMP4 7079 broad.mit.edu 37 3 12198407 12198407 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:12198407C>T ENST00000287814.4 - 3 775 c.265G>A c.(265-267)Gat>Aat p.D89N SYN2_ENST00000432424.2_RNA NM_003256.3 NP_003247.1 Q99727 TIMP4_HUMAN TIMP metallopeptidase inhibitor 4 89 NTR. metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 TACTGAACATCCTTGACTTTC 0.388000 45 67 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79355285 79355285 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:79355285G>A ENST00000350881.2 + 6 945 c.755G>A c.(754-756)cGa>cAa p.R252Q THBS4_ENST00000511733.1_Missense_Mutation_p.R161Q|CTD-2201I18.1_ENST00000503007.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 252 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) TCATTTTTGCGAAACACCATA 0.448000 65 118 0 0 1 0 0 SRPK1 6732 broad.mit.edu 37 6 35856666 35856666 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:35856666G>A ENST00000373825.2 - 4 513 c.228C>T c.(226-228)ttC>ttT p.F76F SRPK1_ENST00000423325.2_Silent_p.F60F|SRPK1_ENST00000373821.2_5'UTR|SRPK1_ENST00000373822.1_5'UTR Q96SB4 SRPK1_HUMAN SRSF protein kinase 1 76 cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 ATCTCCCATTGAATAGATCTC 0.378000 53 82 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22805860 22805860 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr18:22805860G>A ENST00000361524.3 - 4 2170 c.2022C>T c.(2020-2022)ccC>ccT p.P674P ZNF521_ENST00000584787.1_Silent_p.P454P|ZNF521_ENST00000538137.2_Silent_p.P674P NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 674 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) ATTCTTGGTTGGGGAATTCCT 0.423000 T PAX5 ALL 92 163 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105352817 105352817 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:105352817C>T ENST00000453495.1 + 12 2472 c.2244C>T c.(2242-2244)ctC>ctT p.L748L CEP170B_ENST00000418279.1_Silent_p.L677L|CEP170B_ENST00000556508.1_Silent_p.L677L|CEP170B_ENST00000414716.3_Silent_p.L747L centrosomal protein 170B CTGACAGCCTCAGCGATGCCA 0.711000 3 10 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144994629 144994629 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:144994629C>T ENST00000322810.4 - 32 9940 c.9771G>A c.(9769-9771)ctG>ctA p.L3257L PLEC_ENST00000354958.2_Silent_p.L3098L|PLEC_ENST00000398774.2_Silent_p.L3088L|PLEC_ENST00000357649.2_Silent_p.L3124L|PLEC_ENST00000356346.3_Silent_p.L3106L|PLEC_ENST00000354589.3_Silent_p.L3120L|PLEC_ENST00000436759.2_Silent_p.L3147L|PLEC_ENST00000527096.1_Silent_p.L3143L|PLEC_ENST00000345136.3_Silent_p.L3120L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3257 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGCCCTTCTTCAGGGCCTGGA 0.662000 8 27 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103289587 103289587 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr13:103289587G>A ENST00000376052.3 + 14 1850 c.1834G>A c.(1834-1836)Gag>Aag p.E612K TPP2_ENST00000376065.4_Missense_Mutation_p.E612K P29144 TPP2_HUMAN tripeptidyl peptidase II 612 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCATTATACAGAGGTATTGAT 0.338000 32 91 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955396 18955396 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:18955396G>A ENST00000302797.3 - 1 1160 c.936C>T c.(934-936)atC>atT p.I312I NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 312 EEI -> QET (in Ref. 2; AAL86880). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 ACAGCTCCAGGATTTCCTCAG 0.562000 51 72 0 0 1 0 0 TRPC3 7222 broad.mit.edu 37 4 122800972 122800972 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr4:122800972C>G ENST00000264811.5 - 11 2884 c.2466G>C c.(2464-2466)aaG>aaC p.K822N TRPC3_ENST00000513531.1_Missense_Mutation_p.K767N|TRPC3_ENST00000379645.3_Missense_Mutation_p.K895N NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 810 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TTGCTTGGCTCTTGTCTTCCA 0.363000 25 66 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43548885 43548885 + Splice_Site SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:43548885C>G ENST00000220420.5 - 4 444 c.e4-1 TGM5_ENST00000349114.4_Splice_Site NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) ACAGCATCCTCTAGGAACCAG 0.527000 42 131 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18729698 18729698 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:18729698G>C ENST00000440756.2 - 3 778 c.676C>G c.(676-678)Cag>Gag p.Q226E PSD3_ENST00000327040.8_Missense_Mutation_p.Q226E|PSD3_ENST00000523619.1_Missense_Mutation_p.Q161E Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 226 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) ATCTCTGCCTGAGTGTCTCCA 0.473000 65 50 0 0 1 0 0 MCMBP 79892 broad.mit.edu 37 10 121595165 121595165 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:121595165C>G ENST00000360003.3 - 14 1769 c.1600G>C c.(1600-1602)Gag>Cag p.E534Q MCMBP_ENST00000369077.3_Missense_Mutation_p.E532Q|MCMBP_ENST00000466047.1_5'UTR NM_001256378.1|NM_001256379.1|NM_024834.3 NP_001243307.1|NP_001243308.1|NP_079110.1 Q9BTE3 MCMBP_HUMAN minichromosome maintenance complex binding protein 534 cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion nucleus chromatin binding breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2) 21 TTCATGTACTCCTCCATGTTT 0.423000 52 27 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215990453 215990453 + Silent SNP T T C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:215990453T>C ENST00000366943.2 - 48 9842 c.9456A>G c.(9454-9456)ccA>ccG p.P3152P USH2A_ENST00000307340.3_Silent_p.P3152P O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3152 Fibronectin type-III 18. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TTTTAGCGCATGGATACCATG 0.423000 HNSCC(13;0.011) 6 154 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83372137 83372137 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:83372137G>C ENST00000262752.2 - 11 887 c.880C>G c.(880-882)Caa>Gaa p.Q294E RPS6KA6_ENST00000543399.1_Missense_Mutation_p.Q294E NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 294 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 CTAAGAAATTGAGGCATTCCA 0.303000 25 12 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51098524 51098524 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:51098524C>T ENST00000395542.2 - 11 1919 c.1735G>A c.(1735-1737)Gat>Aat p.D579N COBL_ENST00000265136.7_Missense_Mutation_p.D497N O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 497 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) AGGTCTTCATCAAGTTCTGCA 0.433000 58 135 0 0 1 0 0 AGXT2 64902 broad.mit.edu 37 5 35003955 35003955 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:35003955C>T ENST00000231420.6 - 13 1550 c.1350G>A c.(1348-1350)cgG>cgA p.R450R NM_031900.3 NP_114106.1 Q9BYV1 AGT2_HUMAN alanine--glyoxylate aminotransferase 2 450 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 41 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) GGGGAAGAGGCCGACAGCTTA 0.393000 OREG0016558 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 55 82 0 0 1 0 0 ARL15 54622 broad.mit.edu 37 5 53409135 53409135 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:53409135C>G ENST00000504924.1 - 4 452 c.359G>C c.(358-360)aGa>aCa p.R120T ARL15_ENST00000507646.2_Missense_Mutation_p.R120T|ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000502271.1_5'UTR NM_019087.2 NP_061960.1 Q9NXU5 ARL15_HUMAN ADP-ribosylation factor-like 15 120 GTP binding endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 Lung NSC(810;0.000779) CAGCTCATTTCTAGCAGCTTC 0.438000 30 55 0 0 1 0 0 PALLD 23022 broad.mit.edu 37 4 169630220 169630220 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr4:169630220G>A ENST00000335742.7 + 9 1754 c.397G>A c.(397-399)Gat>Aat p.D133N PALLD_ENST00000505667.1_Missense_Mutation_p.D515N|PALLD_ENST00000512127.1_Missense_Mutation_p.D133N|PALLD_ENST00000261509.6_Missense_Mutation_p.D515N Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 515 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) TTTCCCTGAAGATGCAGGGAT 0.423000 Pancreatic Cancer, Familial Clustering of 45 101 0 0 1 0 0 CALCR 799 broad.mit.edu 37 7 93063567 93063567 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:93063567C>G ENST00000359558.2 - 15 1590 c.1291G>C c.(1291-1293)Gag>Cag p.E431Q CALCR_ENST00000421592.1_Missense_Mutation_p.E413Q|CALCR_ENST00000426151.1_Missense_Mutation_p.E397Q|CALCR_ENST00000360249.4_Missense_Mutation_p.E413Q|CALCR_ENST00000394441.1_Missense_Mutation_p.E397Q NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 413 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) ATGCTTACCTCATTGTTGCAG 0.353000 53 72 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17084309 17084309 + RNA SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:17084309C>G ENST00000455405.2 - 0 499 ACATACCATTCAGGCGGCAGG 0.592000 33 452 0 0 1 0 0 NELFE 7936 broad.mit.edu 37 6 31921883 31921883 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:31921883C>T ENST00000375429.3 - 9 1142 c.916G>A c.(916-918)Gag>Aag p.E306K NELFE_ENST00000444811.2_Missense_Mutation_p.E276K|NELFE_ENST00000375425.5_Missense_Mutation_p.E313K NM_002904.5 NP_002895.3 negative elongation factor complex member E TCTGCTGACTCCATCTTTTCA 0.493000 17 54 0 0 1 0 0 RNF111 54778 broad.mit.edu 37 15 59381927 59381927 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:59381927C>T ENST00000348370.4 + 11 3045 c.2612C>T c.(2611-2613)tCa>tTa p.S871L RNF111_ENST00000434298.1_Missense_Mutation_p.S880L|RNF111_ENST00000557998.1_Missense_Mutation_p.S871L|RNF111_ENST00000559209.1_Missense_Mutation_p.S880L|RNF111_ENST00000561186.1_Missense_Mutation_p.S880L NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 871 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) GATGGAACATCATTCAGAGGT 0.343000 107 132 0 0 1 0 0 LIPK 643414 broad.mit.edu 37 10 90492004 90492004 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:90492004G>A ENST00000404190.1 + 4 492 c.492G>A c.(490-492)aaG>aaA p.K164K NM_001080518.1 NP_001073987.1 Q5VXJ0 LIPK_HUMAN lipase, family member K 164 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2) 12 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) CTGGACAGAAGCGACTCTACT 0.423000 63 47 0 0 1 0 0 CPB2 1361 broad.mit.edu 37 13 46638814 46638814 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr13:46638814C>T ENST00000181383.4 - 8 781 c.765G>A c.(763-765)ctG>ctA p.L255L CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2_ENST00000439329.3_Silent_p.L218L|CPB2-AS1_ENST00000606243.1_RNA NM_001872.3 NP_001863.3 Q96IY4 CBPB2_HUMAN carboxypeptidase B2 (plasma) 255 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) AGTTCCTATTCAGGTCTGTTC 0.428000 72 75 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49376698 49376698 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:49376698G>A ENST00000374201.3 - 27 3779 c.3477C>T c.(3475-3477)gtC>gtT p.V1159V FRMPD2_ENST00000474573.1_Silent_p.V111V|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000407470.4_Silent_p.V1127V|FRMPD2_ENST00000305531.3_Silent_p.V1134V NM_001018071.3|NM_001042512.2 NP_001018081|NP_001035977.2 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 1159 PDZ 3. 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) GGAGGAGCGTGACTTCCTGTG 0.562000 81 15 0 0 1 0 0 PSMA1 5682 broad.mit.edu 37 11 14526776 14526776 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:14526776C>G ENST00000530457.1 - 10 1209 c.679G>C c.(679-681)Gaa>Caa p.E227Q PSMA1_ENST00000396393.1_Missense_Mutation_p.E252Q|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000418988.2_Missense_Mutation_p.E258Q|PSMA1_ENST00000396394.2_Missense_Mutation_p.E252Q|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000555531.1_3'UTR P25786 PSA1_HUMAN proteasome (prosome, macropain) subunit, alpha type, 1 252 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex protein binding|RNA binding|threonine-type endopeptidase activity large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 TCTGCAGGTTCATCAGCAGGT 0.328000 72 119 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61655219 61655219 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:61655219C>T ENST00000423902.2 + 2 1707 c.1228C>T c.(1228-1230)Cct>Tct p.P410S CHD7_ENST00000524602.1_Missense_Mutation_p.P410S|CHD7_ENST00000525508.1_Missense_Mutation_p.P410S NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 410 Pro-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) AGGCACTCCTCCTCCACAAGT 0.532000 36 113 0 0 1 0 0 TBCD 6904 broad.mit.edu 37 17 80755631 80755631 + Splice_Site SNP A A T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:80755631A>T ENST00000355528.4 + 8 901 c.e8-1 TBCD_ENST00000539345.2_Splice_Site|TBCD_ENST00000397466.2_Splice_Site NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity p.?(1) Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) TTTTTTTTTTAGGCACAAATA 0.264000 5 40 0 0 1 0 0 C6orf1 221491 broad.mit.edu 37 6 34214471 34214471 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:34214471G>C ENST00000476320.1 - 5 982 c.300C>G c.(298-300)ctC>ctG p.L100L C6orf1_ENST00000413013.2_Silent_p.L80L|C6orf1_ENST00000468145.1_Silent_p.L100L|C6orf1_ENST00000394990.4_Silent_p.L100L|C6orf1_ENST00000335352.3_Silent_p.L80L|C6orf1_ENST00000481533.1_Silent_p.L100L NM_001008703.1 NP_001008703.1 Q86T20 CF001_HUMAN chromosome 6 open reading frame 1 100 extracellular region endometrium(1)|prostate(1) 2 Ovarian(999;0.0228) BRCA - Breast invasive adenocarcinoma(397;1.11e-10) GGGAGAAATGGAGACCCAGCA 0.647000 OREG0017364 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 34 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63156425 63156425 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:63156425C>G ENST00000449996.3 + 4 352 c.280C>G c.(280-282)Ctc>Gtc p.L94V RGS9_ENST00000262406.9_Missense_Mutation_p.L94V|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Missense_Mutation_p.L94V NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 94 DEP. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 GAATCTCATTCTCAAGCCTGA 0.478000 73 117 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62285805 62285805 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:62285805C>T ENST00000378024.4 - 5 16358 c.16084G>A c.(16084-16086)Gat>Aat p.D5362N AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5362 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AGTGTCACATCTGGTGCCCCA 0.542000 45 72 0 0 1 0 0 RFTN1 23180 broad.mit.edu 37 3 16411602 16411602 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:16411602G>A ENST00000334133.4 - 6 1283 c.1011C>T c.(1009-1011)ttC>ttT p.F337F RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Silent_p.F301F NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 337 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 TTCCAAGGTAGAAGACTGCGT 0.493000 64 110 0 0 1 0 0 MROH9 80133 broad.mit.edu 37 1 170952562 170952562 + Splice_Site SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:170952562G>C ENST00000367759.4 + 9 770 c.e9-1 MROH9_ENST00000367758.3_Splice_Site NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 TAACAAAGCAGATATTGGAAC 0.358000 10 37 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39088479 39088479 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:39088479C>T ENST00000295373.6 - 5 1199 c.1073G>A c.(1072-1074)cGa>cAa p.R358Q DHX57_ENST00000479345.2_5'UTR NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 358 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) TTTAGAAAATCGAATTTCAAG 0.373000 34 71 0 0 1 0 0 STK3 6788 broad.mit.edu 37 8 99786971 99786971 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:99786971C>T ENST00000523601.1 - 4 586 c.187G>A c.(187-189)Gaa>Aaa p.E63K STK3_ENST00000419617.2_Missense_Mutation_p.E35K NM_001256312.1 NP_001243241.1 Q13188 STK3_HUMAN serine/threonine kinase 3 35 Protein kinase. apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) ACTTACCCTTCTCCAAGCTTC 0.279000 19 42 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181741346 181741346 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:181741346C>T ENST00000526775.1 + 36 5226 c.5061C>T c.(5059-5061)ttC>ttT p.F1687F CACNA1E_ENST00000367567.4_Silent_p.F1313F|CACNA1E_ENST00000367570.1_Silent_p.F1706F|CACNA1E_ENST00000367573.2_Silent_p.F1706F|CACNA1E_ENST00000360108.3_Silent_p.F1687F|CACNA1E_ENST00000357570.5_Silent_p.F1657F|CACNA1E_ENST00000358338.5_Silent_p.F1638F NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1706 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTGTCTCCTTCATCTTCTTCT 0.542000 56 72 0 0 1 0 0 ERH 2079 broad.mit.edu 37 14 69847305 69847305 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:69847305C>G ENST00000557016.1 - 4 658 c.265G>C c.(265-267)Gag>Cag p.E89Q ERH_ENST00000216520.6_5'UTR NM_004450.2 NP_004441.1 P84090 ERH_HUMAN enhancer of rudimentary homolog (Drosophila) 89 cell cycle|pyrimidine nucleoside metabolic process midbody protein binding all cancers(60;0.00365)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0507) TAGATCTTCTCTTTAATCCAG 0.507000 39 83 0 0 1 0 0 TNFRSF1A 7132 broad.mit.edu 37 12 6439066 6439066 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:6439066C>T ENST00000162749.2 - 9 1234 c.935G>A c.(934-936)aGa>aAa p.R312K TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R269K NM_001065.3 NP_001056.1 P19438 TNR1A_HUMAN tumor necrosis factor receptor superfamily, member 1A 312 apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process extracellular region|integral to plasma membrane|membrane raft tumor necrosis factor receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 19 TGCCACCTCTCTGCGGGGAGC 0.657000 7 10 0 0 1 0 0 DCLRE1B 64858 broad.mit.edu 37 1 114454317 114454317 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:114454317G>A ENST00000369563.3 + 4 1549 c.1103G>A c.(1102-1104)aGa>aAa p.R368K DCLRE1B_ENST00000466480.1_3'UTR NM_022836.3 NP_073747.1 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B 368 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1) 18 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAAGCTGACAGAGACTCAAAG 0.498000 Other identified genes with known or suspected DNA repair function 56 73 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131799445 131799445 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:131799445C>T ENST00000392953.3 + 10 1914 c.1395C>T c.(1393-1395)atC>atT p.I465I ARHGEF4_ENST00000525839.1_Silent_p.I465I|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Silent_p.I394I|ARHGEF4_ENST00000409303.1_Silent_p.I405I|ARHGEF4_ENST00000326016.5_Silent_p.I465I NM_032995.1 NP_127462.1 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 465 DH. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) CCCAGCTCATCAACGAGCGGA 0.567000 33 68 0 0 1 0 0 ANXA7 310 broad.mit.edu 37 10 75157941 75157941 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:75157941C>G ENST00000372921.5 - 3 313 c.257G>C c.(256-258)gGa>gCa p.G86A ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Intron NM_001156.3 NP_001147.1 P20073 ANXA7_HUMAN annexin A7 Repeat-rich region. calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 26 Prostate(51;0.0119) TAACTCACCTCCGGGATAGGA 0.542000 17 19 0 0 1 0 0 ZNF227 7770 broad.mit.edu 37 19 44739864 44739864 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:44739864G>A ENST00000313040.7 + 6 1486 c.1281G>A c.(1279-1281)caG>caA p.Q427Q ZNF227_ENST00000391961.2_Silent_p.Q376Q|ZNF227_ENST00000589005.1_Silent_p.Q376Q NM_182490.1 NP_872296.1 Q86WZ6 ZN227_HUMAN zinc finger protein 227 427 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1) 24 Prostate(69;0.0435) ACATCCATCAGAGAGTCCACA 0.498000 51 93 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 124080087 124080087 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:124080087C>A ENST00000306315.5 - 1 1031 c.596G>T c.(595-597)cGa>cTa p.R199L ZNF608_ENST00000504926.1_Intron NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 199 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) CTTGGCGCCTCGGCTGCTCTG 0.622000 35 78 2.42023e-17 2.51689e-17 1 1 0 CACNA1E 777 broad.mit.edu 37 1 181767826 181767826 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:181767826C>T ENST00000526775.1 + 46 6777 c.6612C>T c.(6610-6612)atC>atT p.I2204I CACNA1E_ENST00000367567.4_Silent_p.I1830I|CACNA1E_ENST00000367570.1_Silent_p.I2223I|CACNA1E_ENST00000367573.2_Silent_p.I2266I|CACNA1E_ENST00000360108.3_Silent_p.I2247I|CACNA1E_ENST00000357570.5_Silent_p.I2217I|CACNA1E_ENST00000358338.5_Silent_p.I2155I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2266 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CCAACACCATCGGCTCAGCCC 0.672000 8 16 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 31 63 0 0 1 0 0 ZNF430 80264 broad.mit.edu 37 19 21239683 21239683 + Nonsense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:21239683C>G ENST00000261560.5 + 5 750 c.569C>G c.(568-570)tCa>tGa p.S190* NM_001172671.1|NM_025189.3 NP_001166142.1|NP_079465.3 Q9H8G1 ZN430_HUMAN zinc finger protein 430 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 TATAAATTTTCAAATCCAAAT 0.294000 24 46 0 0 1 0 0 DEGS1 8560 broad.mit.edu 37 1 224378016 224378016 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:224378016C>T ENST00000323699.4 + 2 986 c.820C>T c.(820-822)Cca>Tca p.P274S DEGS1_ENST00000391877.3_Missense_Mutation_p.P274S NM_003676.3 NP_003667.1 O15121 DEGS1_HUMAN delta(4)-desaturase, sphingolipid 1 274 sphingolipid metabolic process|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity breast(1)|kidney(3)|large_intestine(2)|lung(4) 10 Breast(184;0.193) GBM - Glioblastoma multiforme(131;0.00643) AAAAAGTCTTCCACTGGTAAG 0.383000 26 98 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76219287 76219287 + Silent SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:76219287C>G ENST00000298832.9 + 18 1744 c.1539C>G c.(1537-1539)ctC>ctG p.L513L TTLL5_ENST00000554510.1_Silent_p.L9L|TTLL5_ENST00000556893.1_Silent_p.L51L|TTLL5_ENST00000557636.1_Silent_p.L527L|TTLL5_ENST00000555422.1_3'UTR NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 513 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) CAACACGCCTCTTCCAGGACA 0.378000 66 113 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115805223 115805223 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr9:115805223G>A ENST00000374227.3 - 4 1702 c.1675C>T c.(1675-1677)Cac>Tac p.H559Y ZFP37_ENST00000555206.1_Missense_Mutation_p.H560Y|ZFP37_ENST00000553380.1_Missense_Mutation_p.H574Y NM_001282515.1|NM_001282518.1 NP_001269444.1|NP_001269447.1 Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 559 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 ACAATGAGGTGAGACTTTTGG 0.378000 56 89 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73375361 73375361 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:73375361C>G ENST00000224721.6 + 9 953 c.948C>G c.(946-948)atC>atG p.I316M CDH23_ENST00000461841.3_Missense_Mutation_p.I356M|CDH23_ENST00000299366.7_Missense_Mutation_p.I356M|CDH23_ENST00000398809.4_Missense_Mutation_p.I311M|CDH23_ENST00000398842.3_Missense_Mutation_p.I311M NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 311 Cadherin 3. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 ATGGCTTCATCCTGACTGTGA 0.597000 13 39 0 0 1 0 0 PI4KAP2 375133 broad.mit.edu 37 22 21828948 21828948 + RNA SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr22:21828948C>T ENST00000450651.1 - 0 1860 endometrium(3)|urinary_tract(1) 4 CGCGCTCAGTCATGTTGGGGC 0.627000 10 15 0 0 1 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65721160 65721160 + RNA SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:65721160G>T ENST00000532620.1 + 0 1505 TSGA10IP_ENST00000608857.1_RNA Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 TACGCACCCAGAGGGAGCCGG 0.741000 23 29 2.89027e-11 2.9513e-11 1 1 0 CD209 30835 broad.mit.edu 37 19 7810478 7810478 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:7810478G>A ENST00000315599.7 - 4 696 c.674C>T c.(673-675)gCa>gTa p.A225V CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.A201V|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.A225V|CD209_ENST00000593660.1_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.A181V|CD209_ENST00000315591.8_Missense_Mutation_p.A201V|CD209_ENST00000593821.1_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.A201V|CD209_ENST00000602261.1_Intron|CD209_ENST00000301357.8_Intron NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 225 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CTCACCCACTGCAGCCTTCAG 0.562000 53 112 0 0 1 0 0 YIPF2 78992 broad.mit.edu 37 19 11034075 11034075 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:11034075G>C ENST00000586748.1 - 9 1015 c.843C>G c.(841-843)ttC>ttG p.F281L YIPF2_ENST00000590329.1_Missense_Mutation_p.F242L|YIPF2_ENST00000253031.2_Missense_Mutation_p.F281L Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 281 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 GCGACTGGAAGAAGTACAACT 0.652000 36 69 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26434459 26434459 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:26434459G>C ENST00000265944.5 + 22 2667 c.2501G>C c.(2500-2502)gGa>gCa p.G834A MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 834 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CATTATGCAGGAAAGGTAAGA 0.318000 23 47 0 0 1 0 0 PDS5B 23047 broad.mit.edu 37 13 33327482 33327482 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr13:33327482C>G ENST00000315596.10 + 25 2935 c.2749C>G c.(2749-2751)Caa>Gaa p.Q917E NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 917 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TGAATGCTATCAAGTAAGACA 0.368000 112 103 0 0 1 0 0 FAM134A 79137 broad.mit.edu 37 2 220043729 220043729 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:220043729C>A ENST00000430297.2 + 2 503 c.367C>A c.(367-369)Cgc>Agc p.R123S NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 123 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGGCAGCCTCGCTTTCTCCC 0.537000 100 66 9.07443e-57 9.76691e-57 1 1 0 STEAP4 79689 broad.mit.edu 37 7 87912158 87912158 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:87912158G>A ENST00000380079.4 - 3 883 c.782C>T c.(781-783)cCt>cTt p.P261L AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.P261L|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Intron NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 261 Ferric oxidoreductase. fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) AATAACACCAGGGAGGTAAAC 0.433000 51 71 0 0 1 0 0 NELFE 7936 broad.mit.edu 37 6 31921542 31921542 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:31921542C>G ENST00000375429.3 - 10 1235 c.1009G>C c.(1009-1011)Gat>Cat p.D337H NELFE_ENST00000444811.2_Missense_Mutation_p.D307H|NELFE_ENST00000375425.5_Missense_Mutation_p.D344H NM_002904.5 NP_002895.3 negative elongation factor complex member E GTAGCGGCATCCAGCATGGGC 0.572000 61 128 0 0 1 0 0 PDCD2L 84306 broad.mit.edu 37 19 34912448 34912448 + Silent SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:34912448C>G ENST00000246535.3 + 6 869 c.822C>G c.(820-822)ctC>ctG p.L274L PDCD2L_ENST00000587065.2_5'UTR NM_032346.1 NP_115722.1 Q9BRP1 PDD2L_HUMAN programmed cell death 2-like 274 cytoplasm breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GAGAGCCACTCTTTTTGACCT 0.507000 140 243 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39716623 39716623 + Nonsense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:39716623G>C ENST00000395670.3 - 26 3937 c.3518C>G c.(3517-3519)tCa>tGa p.S1173* KIF21A_ENST00000361961.3_Nonsense_Mutation_p.S1160*|KIF21A_ENST00000544797.2_Nonsense_Mutation_p.S1153*|KIF21A_ENST00000361418.5_Nonsense_Mutation_p.S1173*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.S1137* Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1173 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) ACTAGTGTCTGAAGCTAGTTC 0.483000 56 101 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24901270 24901270 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:24901270G>A ENST00000313367.2 - 10 1440 c.989C>T c.(988-990)tCt>tTt p.S330F OSBPL3_ENST00000353930.1_Missense_Mutation_p.S330F|OSBPL3_ENST00000409069.1_Missense_Mutation_p.S299F|OSBPL3_ENST00000396431.1_Missense_Mutation_p.S299F|OSBPL3_ENST00000352860.1_Missense_Mutation_p.S299F|OSBPL3_ENST00000396429.1_Missense_Mutation_p.S330F|OSBPL3_ENST00000431825.2_Missense_Mutation_p.S299F NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 330 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TTGCATTTTAGAAAACTCTGA 0.358000 90 143 0 0 1 0 0 SNHG12 85028 broad.mit.edu 37 1 28907175 28907175 + RNA SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:28907175G>A ENST00000488745.1 - 0 1013 SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA AGCAAAATGAGAACAACTGTC 0.423000 7 16 0 0 1 0 0 BSND 7809 broad.mit.edu 37 1 55464937 55464937 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:55464937G>A ENST00000371265.4 + 1 332 c.78G>A c.(76-78)atG>atA p.M26I NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 26 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 CGTTCCTCATGAGCCATGATC 0.617000 39 43 0 0 1 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55286732 55286732 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:55286732G>A ENST00000336077.6 + 4 526 c.486G>A c.(484-486)agG>agA p.R162R KIR3DL1_ENST00000538269.1_Intron|KIR2DL1_ENST00000291633.7_Silent_p.R162R|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 162 Ig-like C2-type 2. immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) ATCTATCCAGGGAAGGGGAGG 0.612000 75 29 0 0 1 0 0 TAS1R3 83756 broad.mit.edu 37 1 1266858 1266858 + Missense_Mutation SNP G G A rs137986343 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:1266858G>A ENST00000339381.5 + 1 165 c.133G>A c.(133-135)Gag>Aag p.E45K NM_152228.1 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 45 detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) CCCCCTGGGCGAGGCCGAGGA 0.697000 7 12 0 0 1 0 0 NGLY1 55768 broad.mit.edu 37 3 25820067 25820067 + Nonsense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:25820067C>A ENST00000428257.1 - 2 351 c.244G>T c.(244-246)Gag>Tag p.E82* NGLY1_ENST00000422724.2_Nonsense_Mutation_p.E5*|NGLY1_ENST00000280700.5_Nonsense_Mutation_p.E82*|NGLY1_ENST00000417874.2_Nonsense_Mutation_p.E40*|NGLY1_ENST00000396649.3_Nonsense_Mutation_p.E82* NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 82 PUB. glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 ATACTTACCTCTTCAAAGCCC 0.363000 48 72 4.25531e-23 4.46643e-23 1 1 0 TUBB6 84617 broad.mit.edu 37 18 12325380 12325380 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr18:12325380G>A ENST00000317702.5 + 4 826 c.592G>A c.(592-594)Gag>Aag p.E198K TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR Q9BUF5 TBB6_HUMAN tubulin, beta 6 class V 198 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1) 14 READ - Rectum adenocarcinoma(1;0.0649) GAATACAGACGAGACCTACTG 0.597000 90 126 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209217435 209217435 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:209217435C>G ENST00000264380.4 + 39 5931 c.5773C>G c.(5773-5775)Cag>Gag p.Q1925E NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1925 Catalytic.|PIPK. cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TAAGAACTCTCAGAACAACAC 0.388000 68 42 0 0 1 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30087528 30087528 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:30087528G>C ENST00000449726.1 + 4 744 c.394G>C c.(394-396)Gat>Cat p.D132H PLEKHA8_ENST00000396259.1_Missense_Mutation_p.D132H|PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.D132H|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.D132H NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 132 protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 TCAGCAAGTAGATAAAACAAA 0.299000 62 93 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57335750 57335750 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:57335750C>G ENST00000326441.9 - 4 637 c.274G>C c.(274-276)Gag>Cag p.E92Q PEG3_ENST00000423103.2_Missense_Mutation_p.E92Q|ZIM2_ENST00000599935.1_5'UTR|PEG3_ENST00000593695.1_5'UTR|ZIM2_ENST00000593711.1_5'UTR|ZIM2_ENST00000221722.5_5'UTR|ZIM2_ENST00000601070.1_5'UTR|PEG3_ENST00000598410.1_5'UTR|PEG3_ENST00000594706.1_5'UTR|ZIM2_ENST00000391708.3_5'UTR NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 92 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) AGGTACTGCTCAAGGACCAAG 0.542000 51 103 0 0 1 0 0 TMC6 11322 broad.mit.edu 37 17 76120185 76120185 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:76120185G>A ENST00000590602.1 - 9 1126 c.967C>T c.(967-969)Ctg>Ttg p.L323L TMC6_ENST00000306591.7_Silent_p.L323L|TMC6_ENST00000392467.3_Silent_p.L323L|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000322914.3_Silent_p.L323L|TMC6_ENST00000589553.1_Silent_p.L96L Q7Z403 TMC6_HUMAN transmembrane channel-like 6 323 endoplasmic reticulum membrane|integral to membrane NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 14 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) CTGCCATCCAGGGGGCTGCCA 0.617000 28 40 0 0 1 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27803008 27803008 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:27803008G>C ENST00000318304.8 + 7 820 c.537G>C c.(535-537)ttG>ttC p.L179F PPFIBP1_ENST00000228425.6_Missense_Mutation_p.L179F|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.L179F|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.L26F NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 179 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) TATCTAACTTGAAGTTGAAAC 0.388000 37 47 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17378992 17378992 + Missense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:17378992G>T ENST00000242057.4 + 10 2186 c.1543G>T c.(1543-1545)Gac>Tac p.D515Y AHR_ENST00000492120.1_3'UTR NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 515 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) TGAGCAAATTGACCAGCCTCA 0.393000 44 104 5.48756e-27 5.80481e-27 1 1 0 POM121L9P 29774 broad.mit.edu 37 22 24658509 24658509 + RNA SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr22:24658509C>A ENST00000414583.2 + 0 2926 NR_003714.1 TCTCGCTCATCATCACCGACA 0.562000 18 17 2.35188e-11 2.40881e-11 1 1 0 MUM1 84939 broad.mit.edu 37 19 1376552 1376552 + Nonsense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:1376552G>T ENST00000311401.5 + 14 2292 c.1906G>T c.(1906-1908)Gag>Tag p.E636* MUM1_ENST00000344663.3_Nonsense_Mutation_p.E705*|MUM1_ENST00000415183.3_3'UTR|MUM1_ENST00000591453.1_3'UTR|MUM1_ENST00000591806.1_Nonsense_Mutation_p.E705* Q2TAK8 MUM1_HUMAN melanoma associated antigen (mutated) 1 704 chromatin organization|DNA repair nucleus nucleosome binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTCCTTGAAGAGCGGAACCG 0.507000 38 79 1.62957e-23 1.71307e-23 1 1 0 GALNT8 26290 broad.mit.edu 37 12 4881658 4881658 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:4881658G>A ENST00000252318.2 + 11 2146 c.1809G>A c.(1807-1809)aaG>aaA p.K603K NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 603 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 TGGAGATGAAGAAGGATCTTT 0.527000 29 73 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17378759 17378759 + Missense_Mutation SNP G G C rs138430398 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:17378759G>C ENST00000242057.4 + 10 1953 c.1310G>C c.(1309-1311)gGa>gCa p.G437A AHR_ENST00000492120.1_3'UTR NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 437 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding p.G437V(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) GGCACTAGTGGAAAAGACTCT 0.438000 50 97 0 0 1 0 0 CNTROB 116840 broad.mit.edu 37 17 7836433 7836433 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:7836433C>T ENST00000380262.3 + 1 961 c.36C>T c.(34-36)ctC>ctT p.L12L CNTROB_ENST00000380255.3_Silent_p.L12L|CNTROB_ENST00000565740.1_Silent_p.L12L|CNTROB_ENST00000563694.1_Silent_p.L12L NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 12 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) GTTCACCCCTCGGGGCGGAGG 0.557000 64 106 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55595163 55595163 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:55595163C>G ENST00000294383.6 - 32 3621 c.3622G>C c.(3622-3624)Gct>Cct p.A1208P USP24_ENST00000407756.1_Missense_Mutation_p.A1048P NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 1208 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 AAACCGCCAGCTTTGAGGAAG 0.403000 10 35 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15726043 15726043 + Missense_Mutation SNP C C G rs149496502 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:15726043C>G ENST00000378076.3 - 4 881 c.528G>C c.(526-528)caG>caC p.Q176H NM_003638.1 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 176 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 CGCTGAAGTTCTGAATTGCTA 0.448000 33 87 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162462 90162462 + RNA SNP A A G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr16:90162462A>G ENST00000564451.1 + 0 1815 TUBB8P7_ENST00000567960.1_RNA p.T398T(1) ACTGGTACACAGGCGAGGGCA 0.522000 5 203 0 0 1 0 0 PIGC 5279 broad.mit.edu 37 1 172411277 172411277 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:172411277G>C ENST00000367728.1 - 1 1949 c.486C>G c.(484-486)atC>atG p.I162M C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_Missense_Mutation_p.I162M|PIGC_ENST00000344529.4_Missense_Mutation_p.I162M|PIGC_ENST00000484368.1_Intron Q92535 PIGC_HUMAN phosphatidylinositol glycan anchor biosynthesis, class C 162 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity breast(1)|endometrium(1)|kidney(1)|lung(1) 4 AGTCAAAAAAGATGAGATGGC 0.473000 19 35 0 0 1 0 0 CDKAL1 54901 broad.mit.edu 37 6 20781488 20781488 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:20781488C>T ENST00000274695.4 + 8 797 c.630C>T c.(628-630)atC>atT p.I210I CDKAL1_ENST00000378610.1_Silent_p.I210I|CDKAL1_ENST00000378624.4_Silent_p.I140I|RP3-348I23.2_ENST00000421167.1_RNA NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 210 RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) TCATTTCCATCAATACCGGGT 0.388000 46 97 0 0 1 0 0 UTP14A 10813 broad.mit.edu 37 X 129058886 129058886 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:129058886G>A ENST00000394422.3 + 12 1492 c.1464G>A c.(1462-1464)caG>caA p.Q488Q UTP14A_ENST00000371042.3_Silent_p.Q320Q|UTP14A_ENST00000371051.5_Silent_p.Q434Q|UTP14A_ENST00000425117.2_Silent_p.Q436Q|RP4-537K23.4_ENST00000432062.1_RNA NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 488 rRNA processing nucleolus|small-subunit processome protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 CCCAGGTCCAGAGAGAGGAAC 0.488000 116 44 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 442760 442760 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:442760C>T ENST00000399788.2 - 12 1908 c.1546G>A c.(1546-1548)Gag>Aag p.E516K KDM5A_ENST00000382815.4_Missense_Mutation_p.E516K NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 516 JmjC. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 CTCATCACCTCCTCCAGTTGC 0.498000 T NUP98 AML 57 89 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945485 16945485 + RNA SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:16945485C>T ENST00000412962.1 - 0 2034 CCTGCCGGCTCTGGGCATCTG 0.637000 18 211 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7619840 7619840 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:7619840G>A ENST00000221249.6 + 25 3013 c.2582G>A c.(2581-2583)cGa>cAa p.R861Q PNPLA6_ENST00000414982.3_Missense_Mutation_p.R909Q|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R899Q|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R834Q|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R861Q NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 900 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 CTGCTCCACCGAGAGGAGGGC 0.677000 8 19 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:37868208C>T ENST00000406381.2 + 10 1349 c.839C>T c.(838-840)tCc>tTc p.S280F ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 310 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S310F(6)|p.S310Y(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GACGTGGGATCCTGCACCCTC 0.582000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 112 229 0 0 1 0 0 NDUFB3 4709 broad.mit.edu 37 2 201943722 201943722 + Silent SNP A A G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:201943722A>G ENST00000237889.4 + 2 440 c.117A>G c.(115-117)aaA>aaG p.K39K NDUFB3_ENST00000454214.1_Silent_p.K39K|NDUFB3_ENST00000433898.1_Silent_p.K39K NM_001257102.1|NM_002491.2 NP_001244031.1|NP_002482.1 O43676 NDUB3_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa 39 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity large_intestine(1)|lung(1)|urinary_tract(1) 3 NADH(DB00157) TGGCTGCAAAAGGGCTAAGGG 0.393000 3 107 0 0 1 0 0 WDR81 124997 broad.mit.edu 37 17 1631404 1631404 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:1631404C>G ENST00000409644.1 + 1 3151 c.3151C>G c.(3151-3153)Ccc>Gcc p.P1051A RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_5'UTR|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 380 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGAGGAGATTCCCATGGATGG 0.677000 5 15 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124349189 124349189 + Missense_Mutation SNP T T C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:124349189T>C ENST00000409039.3 + 39 6627 c.6602T>C c.(6601-6603)aTg>aCg p.M2201T NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2201 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GTGGAAAACATGAATTCTGTG 0.473000 13 38 0 0 1 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35900587 35900587 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:35900587C>T ENST00000325722.3 - 21 3292 c.3058G>A c.(3058-3060)Gag>Aag p.E1020K KIAA0319L_ENST00000373266.4_Missense_Mutation_p.E457K NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 1020 cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTGCCCTTCTCTCGGTCTGGC 0.572000 30 33 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109336129 109336129 + Nonsense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:109336129C>T ENST00000283195.6 + 1 193 c.67C>T c.(67-69)Cga>Tga p.R23* NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 23 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CCCGTCGCCTCGACAGGTGAG 0.721000 4 16 0 0 1 0 0 STK35 140901 broad.mit.edu 37 20 2097983 2097983 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr20:2097983G>C ENST00000381482.3 + 3 1835 c.1564G>C c.(1564-1566)Gaa>Caa p.E522Q STK35_ENST00000246032.3_Missense_Mutation_p.E389Q|STK35_ENST00000400064.3_Intron Q8TDR2 STK35_HUMAN serine/threonine kinase 35 522 Protein kinase. cytoplasm|nucleolus ATP binding|protein serine/threonine kinase activity large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2) 13 TGATGCCTTTGAACTTGAAAC 0.468000 37 78 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 106 0 0 1 0 0 GPR64 10149 broad.mit.edu 37 X 19086862 19086862 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:19086862G>A ENST00000379878.3 - 3 332 c.91C>T c.(91-93)Cat>Tat p.H31Y GPR64_ENST00000360279.4_Missense_Mutation_p.H31Y|GPR64_ENST00000379869.3_Missense_Mutation_p.H31Y|GPR64_ENST00000357544.3_Missense_Mutation_p.H31Y|GPR64_ENST00000356606.4_Missense_Mutation_p.H31Y|GPR64_ENST00000354791.3_Missense_Mutation_p.H31Y|GPR64_ENST00000340581.3_Missense_Mutation_p.H31Y|GPR64_ENST00000379876.1_Missense_Mutation_p.H31Y|GPR64_ENST00000379873.2_Missense_Mutation_p.H31Y|GPR64_ENST00000357991.3_Missense_Mutation_p.H31Y NM_001184833.1 NP_001171762.1 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 31 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) AGAACGACATGAAGACAAATG 0.363000 121 26 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27059264 27059264 + Nonsense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:27059264C>G ENST00000324856.7 + 4 2272 c.1901C>G c.(1900-1902)tCa>tGa p.S634* ARID1A_ENST00000374152.2_Nonsense_Mutation_p.S251*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.S634* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 634 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGCCTTCAGTCAAGACCCTCC 0.483000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 63 65 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154147036 154147036 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:154147036C>T ENST00000389740.2 - 1 468 c.369G>A c.(367-369)gcG>gcA p.A123A NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 123 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CTAGGAGAGTCGCCTTCAAGT 0.537000 23 48 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955407 18955407 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:18955407G>A ENST00000302797.3 - 1 1149 c.925C>T c.(925-927)Cct>Tct p.P309S NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 309 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 ATTTCCTCAGGAAGCTGCCCT 0.582000 44 73 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101186098 101186098 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:101186098C>T ENST00000294728.2 + 2 232 c.131C>T c.(130-132)tCa>tTa p.S44L VCAM1_ENST00000370119.4_Missense_Mutation_p.S44L|VCAM1_ENST00000370115.1_Missense_Mutation_p.S44L|VCAM1_ENST00000347652.2_Missense_Mutation_p.S44L NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 44 Ig-like C2-type 1. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GACTCCGTCTCATTGACTTGC 0.453000 26 114 0 0 1 0 0 RBBP7 5931 broad.mit.edu 37 X 16887315 16887315 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:16887315G>C ENST00000380087.2 - 2 405 c.45C>G c.(43-45)gtC>gtG p.V15V RBBP7_ENST00000404022.1_Silent_p.V15V|RBBP7_ENST00000380084.4_Silent_p.V59V Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 15 cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 25 Hepatocellular(33;0.0997) CTTCATTGATGACACGCTCCT 0.433000 62 21 0 0 1 0 0 FES 2242 broad.mit.edu 37 15 91436897 91436897 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:91436897C>T ENST00000328850.3 + 17 2201 c.2059C>T c.(2059-2061)Cgg>Tgg p.R687W FES_ENST00000394302.1_Missense_Mutation_p.R546W|FES_ENST00000394300.3_Missense_Mutation_p.R629W|FES_ENST00000444422.2_Missense_Mutation_p.R617W|FES_ENST00000414248.2_Missense_Mutation_p.R559W|FES_ENST00000450438.2_Missense_Mutation_p.R559W NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 687 Protein kinase. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CCTGGCTGCTCGGAACTGCCT 0.592000 17 45 0 0 1 0 0 TOR1AIP1 26092 broad.mit.edu 37 1 179887207 179887207 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:179887207G>C ENST00000606911.2 + 10 1776 c.1585G>C c.(1585-1587)Gaa>Caa p.E529Q TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.E408Q|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.E530Q|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.E545Q Q5JTV8 TOIP1_HUMAN torsin A interacting protein 1 integral to membrane|nuclear inner membrane breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 18 AAAGGAAGTTGAAGAAAAAGT 0.423000 59 55 0 0 1 0 0 GNA12 2768 broad.mit.edu 37 7 2883515 2883515 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:2883515C>T ENST00000275364.3 - 1 443 c.281G>A c.(280-282)cGc>cAc p.R94H GNA12_ENST00000544127.1_Missense_Mutation_p.R18H NM_007353.2 NP_031379.2 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) alpha 12 94 G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) GATGGTGTCGCGGAACTCCAG 0.701000 7 10 0 0 1 0 0 SBK2 646643 broad.mit.edu 37 19 56047475 56047475 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:56047475C>T ENST00000413299.1 - 2 224 c.187G>A c.(187-189)Gag>Aag p.E63K SBK2_ENST00000344158.3_Missense_Mutation_p.E63K NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 63 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 CGCACTTCCTCGTAGAGCTCG 0.657000 10 18 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73050727 73050727 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:73050727C>T ENST00000335350.6 + 9 1571 c.1155C>T c.(1153-1155)ttC>ttT p.F385F UNC5B_ENST00000373192.4_Silent_p.F374F NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 385 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 TGGCCATCTTCGTGGTCGTGG 0.642000 149 260 0 0 1 0 0 TTC9B 148014 broad.mit.edu 37 19 40724187 40724187 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:40724187G>C ENST00000311308.6 - 1 119 c.102C>G c.(100-102)ggC>ggG p.G34G NM_152479.5 NP_689692.2 Q8N6N2 TTC9B_HUMAN tetratricopeptide repeat domain 9B 34 Pro-rich. binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2) 5 GGGAGCCCGAGCCTGGGCCCG 0.791000 6 1 0 0 1 0 0 MTSS1L 92154 broad.mit.edu 37 16 70698045 70698045 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr16:70698045C>T ENST00000338779.6 - 15 2053 c.1779G>A c.(1777-1779)gtG>gtA p.V593V FLJ00418_ENST00000597002.1_5'UTR NM_138383.2 NP_612392.1 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 593 filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1) 7 TGGGCGTCTTCACAGGGACGA 0.716000 17 7 0 0 1 0 0 ZNF335 63925 broad.mit.edu 37 20 44586517 44586517 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr20:44586517G>C ENST00000322927.2 - 16 2404 c.2304C>G c.(2302-2304)ctC>ctG p.L768L ZNF335_ENST00000426788.1_Silent_p.L613L NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 768 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) TGTCAGAACAGAGCAATGAGG 0.582000 43 81 0 0 1 0 0 ABT1 29777 broad.mit.edu 37 6 26598303 26598303 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:26598303C>T ENST00000274849.1 + 2 434 c.403C>T c.(403-405)Cgc>Tgc p.R135C NM_013375.3 NP_037507.1 Q9ULW3 ABT1_HUMAN activator of basal transcription 1 135 RRM. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 TGCCCGCAGGCGCAGCCCCTT 0.577000 29 43 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17379517 17379517 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:17379517G>A ENST00000242057.4 + 10 2711 c.2068G>A c.(2068-2070)Gaa>Aaa p.E690K NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 690 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) CTACAAATCTGAAATGGATTC 0.403000 60 104 0 0 1 0 0 WDR64 128025 broad.mit.edu 37 1 241904945 241904945 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:241904945C>G ENST00000366552.2 + 11 1626 c.1419C>G c.(1417-1419)atC>atG p.I473M WDR64_ENST00000437684.2_Missense_Mutation_p.I473M NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 473 breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) TACTCACTATCTGCTCTGAAT 0.323000 24 42 0 0 1 0 0 HIP1R 9026 broad.mit.edu 37 12 123338615 123338615 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:123338615C>T ENST00000253083.4 + 8 728 c.603C>T c.(601-603)atC>atT p.I201I NM_003959.1 NP_003950.1 O75146 HIP1R_HUMAN huntingtin interacting protein 1 related 201 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) ACACGGCCATCGCCGTATCCC 0.602000 77 87 0 0 1 0 0 AHR 196 broad.mit.edu 37 7 17378976 17378976 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:17378976G>A ENST00000242057.4 + 10 2170 c.1527G>A c.(1525-1527)ctG>ctA p.L509L AHR_ENST00000492120.1_3'UTR NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 509 apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) ATACTATCCTGAAACATGAGC 0.398000 46 106 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135430771 135430771 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:135430771G>A ENST00000394143.1 + 6 5197 c.4906G>A c.(4906-4908)Gca>Aca p.A1636T GPR112_ENST00000287534.4_Missense_Mutation_p.A1573T|GPR112_ENST00000370652.1_Missense_Mutation_p.A1636T|GPR112_ENST00000412101.1_Missense_Mutation_p.A1431T|GPR112_ENST00000394141.1_Missense_Mutation_p.A1431T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1636 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AATGATAGAGGCACCTTCCAG 0.448000 130 38 0 0 1 0 0 QPCTL 54814 broad.mit.edu 37 19 46202132 46202132 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:46202132G>A ENST00000012049.5 + 5 1081 c.860G>A c.(859-861)cGc>cAc p.R287H QPCTL_ENST00000366382.4_Missense_Mutation_p.R193H NM_017659.3 NP_060129.2 Q9NXS2 QPCTL_HUMAN glutaminyl-peptide cyclotransferase-like 287 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis Golgi membrane|integral to membrane acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1) 11 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208) CGCACGGTCCGCTGGTTCCAT 0.612000 82 124 0 0 1 0 0 ZNHIT1 10467 broad.mit.edu 37 7 100866959 100866959 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:100866959G>C ENST00000305105.2 + 4 807 c.279G>C c.(277-279)ttG>ttC p.L93F ZNHIT1_ENST00000492315.1_3'UTR NM_006349.2 NP_006340.1 O43257 ZNHI1_HUMAN zinc finger, HIT-type containing 1 93 metal ion binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2) 11 Lung NSC(181;0.168)|all_lung(186;0.215) TGCAGAACTTGAGTGTGGCCG 0.677000 44 92 0 0 1 0 0 SLC4A11 83959 broad.mit.edu 37 20 3214842 3214842 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr20:3214842C>T ENST00000380059.3 - 5 640 c.539G>A c.(538-540)cGg>cAg p.R180Q SLC4A11_ENST00000539553.2_Missense_Mutation_p.R137Q|SLC4A11_ENST00000380056.3_Missense_Mutation_p.R153Q NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 153 cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 AAGCATGGTCCGCAGCACGTT 0.627000 47 91 0 0 1 0 0 KIAA1432 57589 broad.mit.edu 37 9 5742887 5742887 + Missense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr9:5742887G>T ENST00000414202.2 + 9 1111 c.920G>T c.(919-921)gGa>gTa p.G307V KIAA1432_ENST00000418622.3_Missense_Mutation_p.G228V|KIAA1432_ENST00000381532.2_Missense_Mutation_p.G228V|KIAA1432_ENST00000251879.6_Missense_Mutation_p.G307V|KIAA1432_ENST00000449720.2_Missense_Mutation_p.G228V NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 307 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) AATAAAACAGGAGCTGTTAAA 0.338000 38 70 1.96642e-18 2.05442e-18 1 1 0 TRAV2 28691 broad.mit.edu 37 14 22180598 22180598 + RNA SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:22180598C>T ENST00000390424.2 + 0 55 TAGGGCTTCTCCTCAACTCTC 0.413000 47 126 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132226123 132226123 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:132226123G>A ENST00000260818.6 + 43 5289 c.5041G>A c.(5041-5043)Gat>Aat p.D1681N NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1681 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TGTCTACAGTGATCATGCCAA 0.333000 49 106 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 17 17 0 0 1 0 0 ETV3L 440695 broad.mit.edu 37 1 157062784 157062784 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:157062784G>C ENST00000454449.2 - 5 1027 c.743C>G c.(742-744)tCg>tGg p.S248W NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 248 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) GAAGGGCCCCGAGAGACAGGT 0.652000 7 28 0 0 1 0 0 ACOX2 8309 broad.mit.edu 37 3 58519238 58519238 + Missense_Mutation SNP C C T rs145801962 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:58519238C>T ENST00000302819.5 - 5 808 c.517G>A c.(517-519)Gca>Aca p.A173T ACOX2_ENST00000459701.2_Missense_Mutation_p.A173T NM_003500.3 NP_003491.1 Q99424 ACOX2_HUMAN acyl-CoA oxidase 2, branched chain 173 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) TGGGTGGCTGCGTCATAGGTG 0.542000 OREG0015638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 142 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40660785 40660785 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:40660785C>G ENST00000267889.3 + 8 2559 c.2472C>G c.(2470-2472)ttC>ttG p.F824L NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 824 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) ATCAGAGCTTCTTCGACACCC 0.687000 15 40 0 0 1 0 0 MAP7 9053 broad.mit.edu 37 6 136710649 136710649 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:136710649C>G ENST00000354570.3 - 4 661 c.251G>C c.(250-252)aGa>aCa p.R84T MAP7_ENST00000438100.2_Missense_Mutation_p.R106T|MAP7_ENST00000544465.1_Missense_Mutation_p.R69T|MAP7_ENST00000454590.1_Missense_Mutation_p.R106T|MAP7_ENST00000432797.2_5'UTR NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 84 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) CACTATTTCTCTTGCAGCTTT 0.448000 52 105 0 0 1 0 0 METTL3 56339 broad.mit.edu 37 14 21967206 21967206 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:21967206C>G ENST00000298717.4 - 10 1745 c.1594G>C c.(1594-1596)Gag>Cag p.E532Q TOX4_ENST00000262709.3_3'UTR|TOX4_ENST00000405508.1_3'UTR NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 532 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) CCAAATAACTCAATCTTGCGA 0.423000 24 76 0 0 1 0 0 IL6 3569 broad.mit.edu 37 7 22769210 22769210 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:22769210G>C ENST00000404625.1 + 5 861 c.402G>C c.(400-402)gaG>gaC p.E134D IL6_ENST00000420258.2_Missense_Mutation_p.E188D|IL6_ENST00000406575.1_Missense_Mutation_p.E134D|IL6_ENST00000258743.5_Missense_Mutation_p.E134D|IL6_ENST00000401630.3_Missense_Mutation_p.E111D|IL6_ENST00000401651.1_Missense_Mutation_p.E58D|IL6_ENST00000407492.1_Missense_Mutation_p.E58D P05231 IL6_HUMAN interleukin 6 (interferon, beta 2) 134 acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan extracellular space|interleukin-6 receptor complex cytokine activity|growth factor activity|interleukin-6 receptor binding breast(1)|endometrium(2)|large_intestine(4)|lung(1) 8 Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641) ACAGATTTGAGAGTAGTGAGG 0.463000 60 72 0 0 1 0 0 METTL16 79066 broad.mit.edu 37 17 2310511 2310511 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:2310511G>A ENST00000609667.1 - 3 340 c.261C>T c.(259-261)atC>atT p.I87I GACGGATGACGATGTCAGGGA 0.522000 18 24 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44073864 44073864 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:44073864C>A ENST00000344290.5 + 11 1983 c.1661C>A c.(1660-1662)cCc>cAc p.P554H MAPT_ENST00000446361.3_Missense_Mutation_p.P161H|MAPT_ENST00000262410.5_Missense_Mutation_p.P536H|MAPT_ENST00000535772.1_Missense_Mutation_p.P219H|MAPT_ENST00000334239.8_Missense_Mutation_p.P161H|MAPT_ENST00000576518.1_Missense_Mutation_p.P150H|MAPT_ENST00000351559.5_Missense_Mutation_p.P219H|MAPT_ENST00000431008.3_Missense_Mutation_p.P219H|MAPT_ENST00000571987.1_Missense_Mutation_p.P536H|MAPT_ENST00000420682.2_Missense_Mutation_p.P190H|MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000340799.5_Missense_Mutation_p.P190H|MAPT_ENST00000415613.2_Missense_Mutation_p.P554H|MAPT_ENST00000347967.5_Missense_Mutation_p.P125H|MAPT_ENST00000574436.1_Missense_Mutation_p.P219H NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 536 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) CCAACCCCACCCACCCGGGAG 0.692000 22 31 7.07758e-08 7.15152e-08 1 1 0 ZNF423 23090 broad.mit.edu 37 16 49670625 49670625 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr16:49670625C>T ENST00000561648.1 - 4 2491 c.2438G>A c.(2437-2439)aGc>aAc p.S813N ZNF423_ENST00000262383.2_Missense_Mutation_p.S813N|ZNF423_ENST00000562520.1_Missense_Mutation_p.S753N|ZNF423_ENST00000535559.1_Missense_Mutation_p.S696N|ZNF423_ENST00000562871.1_Missense_Mutation_p.S753N|ZNF423_ENST00000567169.1_Missense_Mutation_p.S696N|ZNF423_ENST00000563137.2_Missense_Mutation_p.S753N NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 813 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GAAGGCCTTGCTGCAGAACTT 0.567000 59 37 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31465320 31465320 + Nonsense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:31465320G>A ENST00000373747.3 - 7 1174 c.1075C>T c.(1075-1077)Cag>Tag p.Q359* PUM1_ENST00000423018.2_Nonsense_Mutation_p.Q263*|PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373741.4_Nonsense_Mutation_p.Q395*|PUM1_ENST00000373742.2_Nonsense_Mutation_p.Q299*|PUM1_ENST00000426105.2_Nonsense_Mutation_p.Q359*|PUM1_ENST00000257075.5_Nonsense_Mutation_p.Q359*|PUM1_ENST00000440538.2_Nonsense_Mutation_p.Q359* NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 359 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TAATCAAACTGAAGAGGCTCC 0.517000 55 157 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 8 161 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70925822 70925822 + Nonsense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:70925822C>T ENST00000603540.1 + 2 1864 c.1606C>T c.(1606-1608)Cag>Tag p.Q536* ADAM21_ENST00000267499.3_Nonsense_Mutation_p.Q536*|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 536 Cys-rich. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AATCAATTCTCAGGGAAACCG 0.378000 20 26 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23257415 23257415 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:23257415G>C ENST00000298032.5 + 8 997 c.913G>C c.(913-915)Gat>Cat p.D305H ARMC3_ENST00000409049.3_Missense_Mutation_p.D305H|ARMC3_ENST00000409983.3_Missense_Mutation_p.D305H|ARMC3_ENST00000376528.4_Missense_Mutation_p.D42H NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 305 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AGCAGCTTATGATCGTATGTC 0.413000 32 66 0 0 1 0 0 ANKIB1 54467 broad.mit.edu 37 7 91972508 91972508 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:91972508G>A ENST00000265742.3 + 6 1334 c.958G>A c.(958-960)Gaa>Aaa p.E320K NM_019004.1 NP_061877.1 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 320 protein binding|zinc ion binding cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1) 41 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTCCCCAGATGAAATCAGCTT 0.443000 20 43 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70823811 70823811 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:70823811C>G ENST00000373695.1 + 7 1221 c.684C>G c.(682-684)agC>agG p.S228R ACRC_ENST00000373696.3_Missense_Mutation_p.S228R Q96QF7 ACRC_HUMAN acidic repeat containing 228 Asp/Ser-rich. nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) CCGACGACAGCAGTGATGATT 0.512000 6 421 0 0 1 0 0 FSD2 123722 broad.mit.edu 37 15 83438620 83438620 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:83438620G>C ENST00000334574.8 - 8 1465 c.1284C>G c.(1282-1284)gtC>gtG p.V428V FSD2_ENST00000541889.1_Intron A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 428 Fibronectin type-III 1. breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 ATGTTTCTTTGACAGTCACTG 0.453000 23 55 0 0 1 0 0 FOXN3 1112 broad.mit.edu 37 14 89656743 89656743 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:89656743C>T ENST00000345097.4 - 5 912 c.796G>A c.(796-798)Gag>Aag p.E266K FOXN3_ENST00000261302.5_Missense_Mutation_p.E266K|FOXN3_ENST00000557258.1_Intron|FOXN3_ENST00000555353.1_Intron NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 266 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCTTGTATCTCAGGGGGAGTA 0.403000 21 51 0 0 1 0 0 POLI 11201 broad.mit.edu 37 18 51820801 51820801 + Missense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr18:51820801G>T ENST00000579534.1 + 10 2330 c.2187G>T c.(2185-2187)aaG>aaT p.K729N POLI_ENST00000217800.5_Missense_Mutation_p.K603N|POLI_ENST00000579434.1_Missense_Mutation_p.K626N|POLI_ENST00000406285.3_Missense_Mutation_p.K650N NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 729 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) CAGAGTGGAAGAGAGCAGGAT 0.378000 DNA polymerases (catalytic subunits) 30 39 1.39806e-14 1.44061e-14 1 1 0 MAPK10 5602 broad.mit.edu 37 4 87028487 87028487 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr4:87028487G>A ENST00000395169.3 - 5 861 c.141C>T c.(139-141)gtC>gtT p.V47V MAPK10_ENST00000395160.3_5'UTR|MAPK10_ENST00000395166.1_Silent_p.V47V|MAPK10_ENST00000449047.2_5'UTR|MAPK10_ENST00000395161.2_Silent_p.V85V|MAPK10_ENST00000359221.3_Silent_p.V85V|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000361569.2_Silent_p.V85V NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 85 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) TTCTGTCAAGGACAGCATCAT 0.453000 29 64 0 0 1 0 0 SOD3 6649 broad.mit.edu 37 4 24801411 24801411 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr4:24801411C>T ENST00000382120.3 + 2 473 c.268C>T c.(268-270)Cgc>Tgc p.R90C NM_003102.2 NP_003093.2 P08294 SODE_HUMAN superoxide dismutase 3, extracellular 90 removal of superoxide radicals extracellular space|nucleus|soluble fraction copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding prostate(1)|urinary_tract(1) 2 Breast(46;0.0503) GCTTGCGCCCCGCGCCAAGCT 0.741000 5 7 0 0 1 0 0 SLC2A2 6514 broad.mit.edu 37 3 170723895 170723895 + Splice_Site SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:170723895C>G ENST00000314251.3 - 6 692 c.e6-1 SLC2A2_ENST00000382808.4_Splice_Site NM_000340.1 NP_000331.1 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose transporter), member 2 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) GACCAATAATCTGAAAATGCA 0.383000 16 46 0 0 1 0 0 ZNF496 84838 broad.mit.edu 37 1 247471861 247471861 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:247471861C>G ENST00000294753.4 - 8 1386 c.922G>C c.(922-924)Gaa>Caa p.E308Q ZNF496_ENST00000366498.2_Missense_Mutation_p.E344Q|ZNF496_ENST00000462139.1_5'UTR NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 308 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) CTTCTTTCTTCTACCTGGAAT 0.522000 30 118 0 0 1 0 0 CAPS2 84698 broad.mit.edu 37 12 75693620 75693620 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:75693620G>A ENST00000393284.3 - 9 813 c.212C>T c.(211-213)tCa>tTa p.S71L CAPS2_ENST00000409799.1_Missense_Mutation_p.S253L|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409445.3_Missense_Mutation_p.S303L|CAPS2_ENST00000442339.2_Intron Q9BXY5 CAYP2_HUMAN calcyphosine 2 303 calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 CAATTACCGTGATACGATCCT 0.264000 45 140 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79028228 79028228 + Nonsense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:79028228C>T ENST00000446378.2 + 2 3671 c.3640C>T c.(3640-3642)Caa>Taa p.Q1214* NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1214 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GCCTGATTCTCAAGAAGCTAC 0.428000 13 24 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5798685 5798685 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:5798685C>T ENST00000328090.5 + 16 7341 c.6716C>T c.(6715-6717)tCa>tTa p.S2239L NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 2239 p.S2239L(1) GAAGATATATCATCACATTTG 0.383000 34 64 0 0 1 0 0 ELP4 26610 broad.mit.edu 37 11 31671767 31671767 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:31671767G>C ENST00000395934.2 + 9 1148 c.1141G>C c.(1141-1143)Gag>Cag p.E381Q ELP4_ENST00000350638.5_Missense_Mutation_p.E381Q|ELP4_ENST00000379163.5_Missense_Mutation_p.E382Q|Z83001.1_ENST00000429821.1_RNA Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 381 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) ATTCACCATTGAGGTAAGAGA 0.259000 30 45 0 0 1 0 0 PPHLN1 51535 broad.mit.edu 37 12 42835288 42835288 + Missense_Mutation SNP C C G rs35700831 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:42835288C>G ENST00000549190.1 + 10 1316 c.1135C>G c.(1135-1137)Caa>Gaa p.Q379E PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395568.2_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.Q368E|PPHLN1_ENST00000449194.2_Missense_Mutation_p.Q342E|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000552761.1_Missense_Mutation_p.Q313E|PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000358314.7_Missense_Mutation_p.Q361E|PPHLN1_ENST00000337898.6_Intron Q8NEY8 PPHLN_HUMAN periphilin 1 0 keratinization cytoplasm|nucleus breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 16 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) TACTTCCACTCAAGATTTTGG 0.323000 31 44 0 0 1 0 0 KCNS1 3787 broad.mit.edu 37 20 43726795 43726795 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr20:43726795G>C ENST00000306117.1 - 4 1014 c.618C>G c.(616-618)ctC>ctG p.L206L KCNS1_ENST00000537075.1_Silent_p.L206L NM_002251.3 NP_002242.2 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 206 voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding endometrium(1)|lung(3)|ovary(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) TGGTCAGCCAGAGGCGGCGGC 0.701000 4 12 0 0 1 0 0 LTA 4049 broad.mit.edu 37 6 31541102 31541102 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:31541102G>A ENST00000454783.1 + 4 508 c.250G>A c.(250-252)Gac>Aac p.D84N LTA_ENST00000418386.2_Missense_Mutation_p.D84N NM_001159740.2 NP_001153212.1 P01374 TNFB_HUMAN lymphotoxin alpha 84 cell-cell signaling|induction of apoptosis|signal transduction extracellular space|membrane cytokine activity|tumor necrosis factor receptor binding endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Etanercept(DB00005) AGCAAACACGGACCGTGCCTT 0.567000 33 60 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63547879 63547879 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr18:63547879G>C ENST00000397968.2 + 12 2533 c.2107G>C c.(2107-2109)Gat>Cat p.D703H CDH7_ENST00000323011.3_Missense_Mutation_p.D703H NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 703 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) AAGCATCCCAGATAATGTCAT 0.443000 80 134 0 0 1 0 0 TPH1 7166 broad.mit.edu 37 11 18051117 18051117 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:18051117C>T ENST00000250018.2 - 4 974 c.412G>A c.(412-414)Gac>Aac p.D138N TPH1_ENST00000341556.2_Missense_Mutation_p.D138N NM_004179.2 NP_004170.1 P17752 TPH1_HUMAN tryptophan hydroxylase 1 138 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) TAGACATTGTCTTTGAAGCCC 0.269000 110 200 0 0 1 0 0 PPP2R5D 5528 broad.mit.edu 37 6 42975000 42975000 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:42975000G>A ENST00000485511.1 + 5 768 c.589G>A c.(589-591)Gag>Aag p.E197K PPP2R5D_ENST00000394110.3_Missense_Mutation_p.E165K|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.E189K|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.E91K NM_001270476.1|NM_006245.3 NP_001257405.1|NP_006236.1 Q14738 2A5D_HUMAN protein phosphatase 2, regulatory subunit B', delta 197 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GTTTGACCCAGAGGAAGATGA 0.612000 72 146 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167293719 167293719 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:167293719G>C ENST00000308378.3 - 4 778 c.473C>G c.(472-474)tCt>tGt p.S158C WDR49_ENST00000453925.2_Missense_Mutation_p.S211C|WDR49_ENST00000479765.1_Missense_Mutation_p.S499C NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 158 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 CTTCAAGATAGAATTGTAAAG 0.373000 66 112 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53564591 53564591 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:53564591G>C ENST00000342160.3 - 77 12520 c.12063C>G c.(12061-12063)gtC>gtG p.V4021V HUWE1_ENST00000262854.6_Silent_p.V4021V Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4021 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GGTCACGACGGACATGCACAG 0.488000 26 9 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247150744 247150744 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:247150744C>A ENST00000339986.7 - 4 1220 c.1073G>T c.(1072-1074)gGa>gTa p.G358V ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron NM_020394.4 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein 695 358 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) AAAGGCTTTTCCACATTCTTC 0.388000 13 45 5.50884e-06 5.54158e-06 1 1 0 MBD1 4152 broad.mit.edu 37 18 47799322 47799322 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr18:47799322C>T ENST00000591416.1 - 14 2019 c.1588G>A c.(1588-1590)Gta>Ata p.V530I MBD1_ENST00000457839.2_Missense_Mutation_p.V555I|MBD1_ENST00000353909.3_Missense_Mutation_p.V481I|MBD1_ENST00000269471.5_Missense_Mutation_p.V461I|MBD1_ENST00000585595.1_Missense_Mutation_p.V555I|MBD1_ENST00000347968.3_Missense_Mutation_p.V474I|MBD1_ENST00000398488.1_Missense_Mutation_p.V428I|MBD1_ENST00000591535.1_Missense_Mutation_p.V461I|MBD1_ENST00000398495.2_Missense_Mutation_p.V499I|MBD1_ENST00000424334.2_Missense_Mutation_p.V581I|MBD1_ENST00000588937.1_Missense_Mutation_p.V461I|MBD1_ENST00000339998.6_Missense_Mutation_p.V484I|MBD1_ENST00000436910.1_Missense_Mutation_p.V461I|MBD1_ENST00000398493.1_Missense_Mutation_p.V474I|MBD1_ENST00000587605.1_Missense_Mutation_p.V428I|MBD1_ENST00000590208.1_Missense_Mutation_p.V530I|MBD1_ENST00000349085.2_Missense_Mutation_p.V428I|MBD1_ENST00000585672.1_Missense_Mutation_p.V480I|MBD1_ENST00000382948.5_Missense_Mutation_p.V530I|MBD1_ENST00000269468.5_Missense_Mutation_p.V530I Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 530 TRD. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 CCTGGGTCTACTGCCTGGGAG 0.532000 48 65 0 0 1 0 0 NDUFAF5 79133 broad.mit.edu 37 20 13765791 13765791 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr20:13765791G>A ENST00000378106.5 + 1 196 c.77G>A c.(76-78)cGt>cAt p.R26H NDUFAF5_ENST00000463598.1_Missense_Mutation_p.R26H|NDUFAF5_ENST00000475968.1_3'UTR NM_024120.4 NP_077025.2 Q5TEU4 CT007_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 26 mitochondrial respiratory chain complex I assembly extrinsic to mitochondrial inner membrane methyltransferase activity AATCTTGGCCGTAGGGAAGTC 0.612000 9 23 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44049256 44049256 + Silent SNP A A C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:44049256A>C ENST00000344290.5 + 3 487 c.165A>C c.(163-165)ggA>ggC p.G55G MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Silent_p.G55G|MAPT_ENST00000535772.1_Silent_p.G55G|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Silent_p.G55G|MAPT_ENST00000431008.3_Silent_p.G55G|MAPT_ENST00000571987.1_Silent_p.G55G|MAPT_ENST00000420682.2_Silent_p.G55G|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000340799.5_Silent_p.G55G|MAPT_ENST00000415613.2_Silent_p.G55G|MAPT_ENST00000347967.5_5'UTR|MAPT_ENST00000574436.1_Silent_p.G55G NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 55 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) CTGAGGACGGATCTGAGGAAC 0.612000 13 37 0 0 1 0 0 CKB 1152 broad.mit.edu 37 14 103986600 103986600 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:103986600G>A ENST00000348956.2 - 7 1183 c.826C>T c.(826-828)Cac>Tac p.H276Y NM_001823.4 NP_001814.2 P12277 KCRB_HUMAN creatine kinase, brain 276 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity lung(2)|prostate(1) 3 Melanoma(154;0.155) Epithelial(46;0.14) Creatine(DB00148) TAGCCCAGGTGAGGGTTCCAC 0.552000 24 39 0 0 1 0 0 FRMPD1 22844 broad.mit.edu 37 9 37745139 37745139 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr9:37745139C>T ENST00000539465.1 + 16 3703 c.3110C>T c.(3109-3111)tCt>tTt p.S1037F FRMPD1_ENST00000377765.3_Missense_Mutation_p.S1037F|RP11-613M10.9_ENST00000540557.1_Intron Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1037 cytoskeleton|cytosol|plasma membrane NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) AATAATGTCTCTCAAGGAGAC 0.498000 64 104 0 0 1 0 0 PPP2R3B 28227 broad.mit.edu 37 X 299415 299415 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:299415C>A ENST00000390665.3 - 12 1519 c.1501G>T c.(1501-1503)Gac>Tac p.D501Y NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 501 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 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) TTCTCCCAGTCCGAGAGCTCG 0.711000 30 9 4.3949e-29 4.66355e-29 1 1 0 WBP2NL 164684 broad.mit.edu 37 22 42422822 42422822 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr22:42422822C>T ENST00000328823.9 + 6 598 c.567C>T c.(565-567)taC>taT p.Y189Y WBP2NL_ENST00000543212.1_Silent_p.Y115Y NM_152613.2 NP_689826.2 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 189 10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich. egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 CTCCCGGATACGGAGCCCCAC 0.527000 6 216 0 0 1 0 0 PIWIL3 440822 broad.mit.edu 37 22 25150141 25150141 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr22:25150141G>C ENST00000332271.5 - 8 1233 c.817C>G c.(817-819)Caa>Gaa p.Q273E PIWIL3_ENST00000527701.1_Missense_Mutation_p.Q164E|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.Q164E NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 273 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTTTCGTATTGAAGAACAGAA 0.408000 41 38 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29821001 29821001 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:29821001C>G ENST00000375398.2 - 11 2388 c.1939G>C c.(1939-1941)Gaa>Caa p.E647Q SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.E647Q O95425 SVIL_HUMAN supervillin 647 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) TTTCTACTTTCACCAGGAGAA 0.512000 55 131 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48729225 48729225 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:48729225G>A ENST00000316623.5 - 53 6884 c.6429C>T c.(6427-6429)atC>atT p.I2143I NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 2143 EGF-like 36; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CATCTGTATTGATGCACTGTC 0.368000 61 66 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19553588 19553588 + Missense_Mutation SNP A A G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:19553588A>G ENST00000409832.3 + 1 224 c.172A>G c.(172-174)Agg>Ggg p.R58G NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 58 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 GAAGACACTCAGGAGCAAGAT 0.617000 27 599 0 0 1 0 0 RAD21 5885 broad.mit.edu 37 8 117866528 117866528 + Missense_Mutation SNP A A G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:117866528A>G ENST00000297338.2 - 9 1404 c.1117T>C c.(1117-1119)Ttt>Ctt p.F373L NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 373 Interaction with STAG1.|Interaction with WAPAL and PDS5B. apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) GGTAAAGAAAACAGTTTTTCT 0.353000 46 83 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42041294 42041294 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:42041294C>G ENST00000372584.1 - 4 6142 c.5128G>C c.(5128-5130)Gag>Cag p.E1710Q HIVEP3_ENST00000247584.5_Missense_Mutation_p.E1710Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E1710Q|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E1710Q|HIVEP3_ENST00000460604.1_5'UTR NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1710 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CCTCTCCTCTCTTCTTCCTTC 0.552000 40 115 0 0 1 0 0 UHMK1 127933 broad.mit.edu 37 1 162467949 162467949 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:162467949C>T ENST00000489294.1 + 1 317 c.159C>T c.(157-159)ctC>ctT p.L53L UHMK1_ENST00000538489.1_Silent_p.L53L|UHMK1_ENST00000545294.1_Intron|UHMK1_ENST00000282169.8_3'UTR NM_175866.4 NP_787062.1 Q8TAS1 UHMK1_HUMAN U2AF homology motif (UHM) kinase 1 53 Protein kinase. cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus axon|dendrite cytoplasm|neuronal RNA granule|nucleus protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding endometrium(1)|large_intestine(2)|lung(6)|prostate(2) 11 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) CCGGCGCCCTCAAGCAGTTCT 0.687000 5 21 0 0 1 0 0 LRTM2 654429 broad.mit.edu 37 12 1943797 1943797 + Missense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:1943797G>T ENST00000543818.1 + 5 1865 c.1023G>T c.(1021-1023)aaG>aaT p.K341N CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000299194.1_Missense_Mutation_p.K341N|CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.K341N|CACNA2D4_ENST00000585708.1_Intron NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 341 integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) TCATGGCCAAGTACCACCGGG 0.637000 25 53 6.32553e-13 6.48846e-13 1 1 0 INPPL1 3636 broad.mit.edu 37 11 71946178 71946178 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:71946178G>C ENST00000541756.1 + 22 2638 c.1708G>C c.(1708-1710)Gat>Cat p.D570H INPPL1_ENST00000298229.2_Missense_Mutation_p.D812H|INPPL1_ENST00000538751.1_Missense_Mutation_p.D570H O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 812 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 AATTCTGGCTGATATCGAGTA 0.597000 37 66 0 0 1 0 0 BBOX1 8424 broad.mit.edu 37 11 27114841 27114841 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:27114841G>C ENST00000263182.3 + 5 829 c.461G>C c.(460-462)gGa>gCa p.G154A BBOX1_ENST00000528583.1_Missense_Mutation_p.G154A|RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000525302.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000527505.1_Intron|BBOX1_ENST00000525090.1_Missense_Mutation_p.G154A|BBOX1_ENST00000529202.1_Missense_Mutation_p.G154A NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 154 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) AGACTCACCGGAGCATCTGAC 0.423000 51 67 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113085174 113085174 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:113085174G>A ENST00000316851.7 + 7 970 c.970G>A c.(970-972)Gac>Aac p.D324N NCAM1_ENST00000533760.1_Missense_Mutation_p.D216N|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.D333N NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 334 Ig-like C2-type 4. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AGCCTCCGGAGACCCCATTCC 0.493000 8 11 0 0 1 0 0 CCDC148 130940 broad.mit.edu 37 2 159195284 159195284 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:159195284G>C ENST00000283233.5 - 7 1031 c.718C>G c.(718-720)Cag>Gag p.Q240E CCDC148_ENST00000409187.1_Missense_Mutation_p.Q249E|CCDC148_ENST00000409889.1_Missense_Mutation_p.Q240E|CCDC148_ENST00000536771.1_Missense_Mutation_p.Q154E NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 240 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 AGCTTCTTCTGATATTTCTGT 0.343000 39 66 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10713833 10713833 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:10713833C>T ENST00000377022.3 - 11 2598 c.2281G>A c.(2281-2283)Ggg>Agg p.G761R CASZ1_ENST00000344008.5_Missense_Mutation_p.G761R|RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.2 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GCACTGGGCCCAGCCTCGGTG 0.692000 20 63 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19447887 19447887 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:19447887C>T ENST00000375267.2 - 68 9940 c.9937G>A c.(9937-9939)Gag>Aag p.E3313K UBR4_ENST00000375217.2_Missense_Mutation_p.E3306K|UBR4_ENST00000375226.2_Missense_Mutation_p.E3289K|UBR4_ENST00000375254.3_Missense_Mutation_p.E3313K Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3313 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GACACGCCCTCATCCACAAGG 0.592000 22 31 0 0 1 0 0 NEK4 6787 broad.mit.edu 37 3 52799959 52799959 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:52799959G>A ENST00000233027.5 - 4 812 c.610C>T c.(610-612)Cat>Tat p.H204Y NEK4_ENST00000535191.1_Missense_Mutation_p.H115Y|NEK4_ENST00000383721.4_Missense_Mutation_p.H204Y NM_001193533.1|NM_003157.4 NP_001180462.1|NP_003148.2 P51957 NEK4_HUMAN NIMA-related kinase 4 204 Protein kinase. cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) TTGAAAGCATGCTTCAAGGTG 0.333000 79 98 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6985581 6985581 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr18:6985581C>G ENST00000389658.3 - 38 5534 c.5441G>C c.(5440-5442)aGa>aCa p.R1814T NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1814 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) TATCAATCCTCTTCCTTGGAC 0.413000 77 136 0 0 1 0 0 PPP2R2B 5521 broad.mit.edu 37 5 145969708 145969708 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:145969708C>T ENST00000394413.3 - 9 1704 c.1134G>A c.(1132-1134)tcG>tcA p.S378S PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Silent_p.S367S|PPP2R2B_ENST00000394409.3_Silent_p.S436S|PPP2R2B_ENST00000504198.1_Silent_p.S384S|PPP2R2B_ENST00000394411.4_Silent_p.S378S|PPP2R2B_ENST00000453001.1_Silent_p.S378S|PPP2R2B_ENST00000356826.3_Silent_p.S378S|PPP2R2B_ENST00000394410.2_Silent_p.S367S|PPP2R2B_ENST00000394414.1_Silent_p.S444S|PPP2R2B_ENST00000336640.6_Silent_p.S381S|CTB-99A3.1_ENST00000512730.1_RNA Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 378 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGTTTTCCCTCGAAGCCTCAA 0.517000 72 111 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141243003 141243003 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:141243003C>T ENST00000389484.3 - 59 10305 c.9334G>A c.(9334-9336)Gaa>Aaa p.E3112K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3112 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTGGATACTTCAATGATTCTT 0.408000 TSP Lung(27;0.18) 59 33 0 0 1 0 0 C9orf163 158055 broad.mit.edu 37 9 139379442 139379442 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr9:139379442G>C ENST00000354376.1 + 1 1496 c.542G>C c.(541-543)aGa>aCa p.R181T NM_152571.2 NP_689784.1 Q8N9P6 CI163_HUMAN chromosome 9 open reading frame 163 181 protein binding kidney(1)|lung(1) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06) AAGAACCCAAGAGCCAGGAGC 0.602000 OREG0019617 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 30 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10714202 10714202 + Missense_Mutation SNP C C T rs139056324 byFrequency TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:10714202C>T ENST00000377022.3 - 11 2229 c.1912G>A c.(1912-1914)Gat>Aat p.D638N CASZ1_ENST00000344008.5_Missense_Mutation_p.D638N|RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.2 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 638 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GCGTAGGCATCGTCCTTGATG 0.532000 36 53 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61829868 61829868 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:61829868C>T ENST00000280772.2 - 37 10962 c.10771G>A c.(10771-10773)Gaa>Aaa p.E3591K ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGGGTACTTTCATCAGTTGGC 0.483000 65 109 0 0 1 0 0 KIAA1033 23325 broad.mit.edu 37 12 105508984 105508984 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:105508984G>C ENST00000332180.5 + 5 431 c.344G>C c.(343-345)gGt>gCt p.G115A NM_015275.1 NP_056090.1 Q2M389 WAHS7_HUMAN KIAA1033 115 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 TTTTACAATGGTCTCTTGTTT 0.269000 23 109 0 0 1 0 0 CELF3 11189 broad.mit.edu 37 1 151678705 151678705 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:151678705C>G ENST00000290583.4 - 10 1914 c.1121G>C c.(1120-1122)aGa>aCa p.R374T CELF3_ENST00000392706.3_Missense_Mutation_p.R169T|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.R324T NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 374 nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 AGCACCTTCTCTTtgctgctg 0.662000 5 24 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62286735 62286735 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:62286735C>G ENST00000378024.4 - 5 15428 c.15154G>C c.(15154-15156)Gat>Cat p.D5052H AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5052 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AGGCTGGCATCAATTTCACCC 0.443000 172 335 0 0 1 0 0 MR1 3140 broad.mit.edu 37 1 181003155 181003155 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:181003155G>A ENST00000367580.5 + 1 17 c.12G>A c.(10-12)ctG>ctA p.L4L MR1_ENST00000367579.3_Silent_p.L4L|MR1_ENST00000282990.6_Silent_p.L4L|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000434571.2_Silent_p.L4L NM_001531.2 NP_001522.1 Q95460 HMR1_HUMAN major histocompatibility complex, class I-related 4 antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 18 TGGGGGAACTGATGGCGTTCC 0.488000 16 57 0 0 1 0 0 DVL3 1857 broad.mit.edu 37 3 183885729 183885729 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:183885729C>T ENST00000313143.3 + 13 1622 c.1374C>T c.(1372-1374)ttC>ttT p.F458F DVL3_ENST00000431765.1_Silent_p.F441F|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 458 DEP. canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) TGGAAGGCTTCACGGACCGGA 0.582000 37 55 0 0 1 0 0 FSCN1 6624 broad.mit.edu 37 7 5642908 5642908 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:5642908C>G ENST00000382361.3 + 2 967 c.853C>G c.(853-855)Cag>Gag p.Q285E FSCN1_ENST00000340250.6_Missense_Mutation_p.Q264E NM_003088.3 NP_003079.1 Q16658 FSCN1_HUMAN fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) 285 actin filament bundle assembly|cell migration|cell proliferation cell junction|cytoplasm|filopodium|invadopodium|stress fiber actin filament binding|drug binding|protein binding, bridging central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13) GTCTGCCAATCAGGACGAGGA 0.607000 38 62 0 0 1 0 0 MBD1 4152 broad.mit.edu 37 18 47799841 47799841 + Splice_Site SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr18:47799841C>A ENST00000591416.1 - 13 1878 c.1447G>T c.(1447-1449)Gag>Tag p.E483* MBD1_ENST00000457839.2_Splice_Site_p.E508*|MBD1_ENST00000353909.3_Splice_Site_p.E434*|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000585595.1_Splice_Site_p.E508*|MBD1_ENST00000347968.3_Splice_Site_p.E427*|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000398495.2_Splice_Site_p.E452*|MBD1_ENST00000424334.2_Splice_Site_p.E534*|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000398493.1_Splice_Site_p.E427*|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000590208.1_Splice_Site_p.E483*|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000585672.1_Splice_Site_p.E433*|MBD1_ENST00000382948.5_Splice_Site_p.E483*|MBD1_ENST00000269468.5_Splice_Site_p.E483* Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 483 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 CACTGGGCCTCCTGCGTGAGG 0.627000 33 77 5.71845e-15 5.91052e-15 1 1 0 ZDHHC19 131540 broad.mit.edu 37 3 195937533 195937533 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:195937533G>A ENST00000296326.3 - 2 301 c.222C>T c.(220-222)ttC>ttT p.F74F ZDHHC19_ENST00000488508.1_5'UTR NM_001039617.1 NP_001034706.1 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC-type containing 19 74 integral to membrane acyltransferase activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3) 14 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) AAACAAGACTGAAGAAGGTAA 0.557000 32 69 0 0 1 0 0 BAIAP2 10458 broad.mit.edu 37 17 79079921 79079921 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:79079921G>A ENST00000321300.6 + 11 1405 c.1312G>A c.(1312-1314)Gat>Aat p.D438N BAIAP2_ENST00000321280.7_Missense_Mutation_p.D438N|BAIAP2_ENST00000575245.1_Missense_Mutation_p.D471N|BAIAP2_ENST00000435091.3_Missense_Mutation_p.D438N|BAIAP2_ENST00000416299.2_Missense_Mutation_p.D301N|BAIAP2_ENST00000575712.1_Missense_Mutation_p.D438N|BAIAP2_ENST00000392411.3_Missense_Mutation_p.D360N|BAIAP2_ENST00000428708.2_Missense_Mutation_p.D438N NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 438 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CTTGGACAGCGATGGCAGTGA 0.647000 3 7 0 0 1 0 0 GALNT15 117248 broad.mit.edu 37 3 16254109 16254109 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:16254109C>A ENST00000339732.5 + 6 1734 c.1231C>A c.(1231-1233)Ccc>Acc p.P411T GALNT15_ENST00000437509.1_Missense_Mutation_p.P411T NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 TGAAATCCTTCCCTGCTCTCG 0.552000 18 45 1.87028e-06 1.88701e-06 1 1 0 NIN 51199 broad.mit.edu 37 14 51196399 51196399 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:51196399G>C ENST00000245441.5 - 29 6110 c.5920C>G c.(5920-5922)Cat>Gat p.H1974D NIN_ENST00000324330.9_3'UTR|NIN_ENST00000453196.1_Missense_Mutation_p.H1974D|NIN_ENST00000382041.3_Missense_Mutation_p.H1974D|NIN_ENST00000382043.4_Missense_Mutation_p.H1261D|NIN_ENST00000530997.2_Missense_Mutation_p.H1974D|NIN_ENST00000389868.3_3'UTR NM_020921.3 NP_065972 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 1974 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TCCCAAGCATGAGGGGACGGG 0.597000 T PDGFRB MPD 5 21 0 0 1 0 0 GSPT2 23708 broad.mit.edu 37 X 51488598 51488598 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:51488598G>C ENST00000340438.4 + 1 2118 c.1876G>C c.(1876-1878)Gag>Cag p.E626Q NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 626 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) ATTGGTCCCAGAGAAGGACTA 0.413000 32 7 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153249370 153249370 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr4:153249370G>A ENST00000281708.4 - 9 2637 c.1408C>T c.(1408-1410)Cat>Tat p.H470Y FBXW7_ENST00000263981.5_Missense_Mutation_p.H390Y|FBXW7_ENST00000603841.1_Missense_Mutation_p.H470Y|FBXW7_ENST00000296555.5_Missense_Mutation_p.H352Y|FBXW7_ENST00000393956.3_Missense_Mutation_p.H294Y|FBXW7_ENST00000603548.1_Missense_Mutation_p.H470Y NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 470 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) CTTTTTTCATGAAGATGCATA 0.413000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 40 92 0 0 1 0 0 THG1L 54974 broad.mit.edu 37 5 157158483 157158483 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:157158483C>G ENST00000231198.7 + 1 279 c.35C>G c.(34-36)tCc>tGc p.S12C NM_017872.3 NP_060342.2 Q9NWX6 THG1_HUMAN tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) 12 protein homotetramerization|tRNA modification mitochondrion GTP binding|metal ion binding|tRNA guanylyltransferase activity NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1) 13 Renal(175;0.00488) Medulloblastoma(196;0.0523) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTTCACGATTCCTTGGCCACC 0.552000 41 93 0 0 1 0 0 ZNHIT1 10467 broad.mit.edu 37 7 100866969 100866969 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:100866969G>A ENST00000305105.2 + 4 817 c.289G>A c.(289-291)Gag>Aag p.E97K ZNHIT1_ENST00000492315.1_3'UTR NM_006349.2 NP_006340.1 O43257 ZNHI1_HUMAN zinc finger, HIT-type containing 1 97 metal ion binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2) 11 Lung NSC(181;0.168)|all_lung(186;0.215) GAGTGTGGCCGAGGGCCCTAA 0.672000 43 92 0 0 1 0 0 SIRT5 23408 broad.mit.edu 37 6 13599382 13599382 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:13599382C>G ENST00000606117.1 + 8 1032 c.736C>G c.(736-738)Cta>Gta p.L246V SIRT5_ENST00000379262.4_Missense_Mutation_p.L246V|SIRT5_ENST00000397350.2_Missense_Mutation_p.L138V|SIRT5_ENST00000359782.3_Missense_Mutation_p.L228V NM_012241.4 NP_036373.1 Q9NXA8 SIRT5_HUMAN sirtuin 5 246 Deacetylase sirtuin-type. chromatin silencing|protein ADP-ribosylation|protein deacetylation mitochondrial intermembrane space|mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 11 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.176) Suramin(DB04786) TGATTTATGTCTAGTGGTGGG 0.542000 61 118 0 0 1 0 0 SYT11 23208 broad.mit.edu 37 1 155838469 155838469 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:155838469G>C ENST00000368324.4 + 2 1001 c.748G>C c.(748-750)Gac>Cac p.D250H SYT11_ENST00000539162.1_Intron NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 250 C2 1. cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) CCTCAGCTTTGACCGCTTCTC 0.572000 13 63 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7808072 7808072 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:7808072G>A ENST00000601256.1 - 4 982 c.883C>T c.(883-885)Cgc>Tgc p.R295C CD209_ENST00000394173.4_Silent_p.C195C|CD209_ENST00000601951.1_Silent_p.C332C|CD209_ENST00000394161.5_Silent_p.C120C|CD209_ENST00000354397.6_Silent_p.C350C|CD209_ENST00000593660.1_Silent_p.C286C|CD209_ENST00000315599.7_Silent_p.C356C|CD209_ENST00000204801.8_Silent_p.C312C|CD209_ENST00000315591.8_Silent_p.C332C|CD209_ENST00000593821.1_Silent_p.C220C|CD209_ENST00000602261.1_Silent_p.C264C|CD209_ENST00000301357.8_Silent_p.C220C Q9NNX6 CD209_HUMAN CD209 molecule 0 C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TAAATTCCGCGCAGTCTTCCT 0.527000 126 248 0 0 1 0 0 HOXB6 3216 broad.mit.edu 37 17 46673804 46673804 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:46673804C>T ENST00000484302.2 - 3 1268 c.646G>A c.(646-648)Gag>Aag p.E216K HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB6_ENST00000225648.3_Missense_Mutation_p.E216K|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000460041.1_RNA P17509 HXB6_HUMAN homeobox B6 216 Poly-Glu. anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(4) 7 TCCTCCTCCTCGGCACTGAGC 0.597000 107 214 0 0 1 0 0 TUBB2A 7280 broad.mit.edu 37 6 3154828 3154828 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:3154828C>T ENST00000333628.3 - 4 669 c.607G>A c.(607-609)Gat>Aat p.D203N TUBB2A_ENST00000489942.1_5'UTR NM_001069.2 NP_001060.1 Q13885 TBB2A_HUMAN tubulin, beta 2A class IIa 203 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity endometrium(2)|large_intestine(4)|lung(2)|skin(1) 9 Ovarian(93;0.0386) all_hematologic(90;0.0895) GCCTCGTTATCAATGGAGTAG 0.592000 114 224 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28171347 28171347 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:28171347C>T ENST00000354638.3 - 19 2160 c.2005G>A c.(2005-2007)Gat>Aat p.D669N OCA2_ENST00000353809.5_Missense_Mutation_p.D645N NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 669 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) ATCTCAAAATCATGAATATCA 0.368000 Oculocutaneous Albinism 27 83 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57744453 57744453 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:57744453G>A ENST00000281282.5 + 6 2098 c.2020G>A c.(2020-2022)Gaa>Aaa p.E674K NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 674 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) ACGACTGGAAGAAAGTGAAGG 0.493000 23 24 0 0 1 0 0 FERMT1 55612 broad.mit.edu 37 20 6078252 6078252 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr20:6078252G>A ENST00000217289.4 - 7 1664 c.876C>T c.(874-876)ctC>ctT p.L292L FERMT1_ENST00000536936.1_Silent_p.L35L NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 292 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 CTTGCTCATAGAGTTGGTTTA 0.398000 56 92 0 0 1 0 0 TRIM9 114088 broad.mit.edu 37 14 51561040 51561040 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:51561040C>A ENST00000298355.3 - 1 1739 c.618G>T c.(616-618)aaG>aaT p.K206N TRIM9_ENST00000360392.4_Missense_Mutation_p.K206N|TRIM9_ENST00000338969.5_Missense_Mutation_p.K206N NM_015163.5 NP_055978.4 Q9C026 TRIM9_HUMAN tripartite motif containing 9 206 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) CCAGGCGGTGCTTGGCTAGGG 0.682000 8 31 0.0381472 0.0382037 1 1 0 BCL11A 53335 broad.mit.edu 37 2 60689190 60689190 + Missense_Mutation SNP T T C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:60689190T>C ENST00000335712.6 - 4 1084 c.857A>G c.(856-858)gAg>gGg p.E286G BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.E286G|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.E252G|BCL11A_ENST00000358510.4_Missense_Mutation_p.E252G|BCL11A_ENST00000477659.1_5'UTR NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 286 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CAGGGCCATCTCTTCCGCCCC 0.617000 T IGH@ B-CLL 24 80 0 0 1 0 0 ZNF90 7643 broad.mit.edu 37 19 20229375 20229375 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:20229375G>C ENST00000418063.2 + 4 1124 c.1012G>C c.(1012-1014)Gag>Cag p.E338Q ZNF90_ENST00000474284.1_Intron NM_007138.1 NP_009069.1 Q03938 ZNF90_HUMAN zinc finger protein 90 338 Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 CCATACTGGAGAGAAACCCTA 0.423000 44 64 0 0 1 0 0 DVL3 1857 broad.mit.edu 37 3 183885783 183885783 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:183885783C>T ENST00000313143.3 + 13 1676 c.1428C>T c.(1426-1428)ttC>ttT p.F476F DVL3_ENST00000431765.1_Silent_p.F459F|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 476 DEP. canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) AAGCTGGCTTCATCCGCCATA 0.567000 61 103 0 0 1 0 0 NRCAM 4897 broad.mit.edu 37 7 107880462 107880462 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:107880462C>T ENST00000379028.3 - 4 517 c.47G>A c.(46-48)aGa>aAa p.R16K NRCAM_ENST00000425651.2_Missense_Mutation_p.R16K|NRCAM_ENST00000413765.2_Missense_Mutation_p.R16K|NRCAM_ENST00000379024.4_Missense_Mutation_p.R16K|NRCAM_ENST00000379022.4_Missense_Mutation_p.R16K|NRCAM_ENST00000351718.4_Missense_Mutation_p.R16K Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 16 angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding p.R16K(2) breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CAGGGGCACTCTGCCCGCAGA 0.433000 49 102 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57866333 57866333 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:57866333C>T ENST00000393797.2 - 21 2625 c.2433G>A c.(2431-2433)ctG>ctA p.L811L ARHGAP9_ENST00000430041.2_Silent_p.L537L|ARHGAP9_ENST00000393791.3_Silent_p.L721L|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000356411.2_Silent_p.L740L Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 740 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) TGGTGAGCATCAGCTGGACCA 0.542000 31 52 0 0 1 0 0 C10orf10 11067 broad.mit.edu 37 10 45472912 45472912 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:45472912G>A ENST00000298295.3 - 2 784 c.567C>T c.(565-567)tcC>tcT p.S189S RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000472561.1_Intron|C10orf10_ENST00000496638.1_Intron NM_007021.3 NP_008952.1 Q9NTK1 DEPP_HUMAN chromosome 10 open reading frame 10 189 mitochondrion lung(1) 1 GGCGGTGGCGGGAGGCCATGG 0.617000 58 76 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73045181 73045181 + RNA SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:73045181G>C ENST00000604411.1 + 0 33142 XIST_ENST00000429829.1_lincRNA NR_003255.2 ATATCCTTTTGAAAGAGCACT 0.318000 40 15 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21028355 21028355 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:21028355G>A ENST00000381545.3 + 9 1133 c.914G>A c.(913-915)aGa>aAa p.R305K SLCO1B3_ENST00000553473.1_Missense_Mutation_p.R305K|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.R305K|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.R305K NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 305 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) AATGATGATAGAAATCAAACA 0.308000 27 67 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241689927 241689927 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:241689927G>A ENST00000498729.2 - 28 3142 c.2896C>T c.(2896-2898)Ccc>Tcc p.P966S KIF1A_ENST00000320389.7_Missense_Mutation_p.P865S NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 865 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TGTACCAGGGGAACGGGGTAC 0.657000 24 14 0 0 1 0 0 ZBTB49 166793 broad.mit.edu 37 4 4303794 4303794 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr4:4303794G>A ENST00000337872.4 + 3 352 c.231G>A c.(229-231)caG>caA p.Q77Q ZBTB49_ENST00000355834.3_Silent_p.Q77Q|ZBTB49_ENST00000538529.1_5'UTR NM_145291.3 NP_660334.3 Q6ZSB9 ZBT49_HUMAN zinc finger and BTB domain containing 49 77 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 28 GCATAGGGCAGATCCTGGACT 0.388000 55 75 0 0 1 0 0 DVL1 1855 broad.mit.edu 37 1 1274001 1274001 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:1274001C>T ENST00000378888.5 - 12 1524 c.1240G>A c.(1240-1242)Gac>Aac p.D414N DVL1_ENST00000378891.5_Missense_Mutation_p.D389N O14640 DVL1_HUMAN dishevelled segment polarity protein 1 414 canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCGCTCATGTCACTCTTCACC 0.647000 20 18 0 0 1 0 0 CBX5 23468 broad.mit.edu 37 12 54645865 54645865 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:54645865G>A ENST00000209875.4 - 3 420 c.284C>T c.(283-285)tCa>tTa p.S95L CBX5_ENST00000439541.2_Missense_Mutation_p.S95L|CBX5_ENST00000550411.1_Missense_Mutation_p.S95L NM_012117.2 NP_036249.1 P45973 CBX5_HUMAN chromobox homolog 5 95 blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex methylated histone residue binding|protein binding, bridging|repressing transcription factor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 8 GGCACTGTTTGAGAAATTGGA 0.328000 92 182 0 0 1 0 0 STAC 6769 broad.mit.edu 37 3 36527655 36527655 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:36527655G>A ENST00000273183.3 + 5 901 c.601G>A c.(601-603)Gag>Aag p.E201K STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.E140K NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 201 intracellular signal transduction cytoplasm|soluble fraction metal ion binding p.E201*(1) endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 CCCTGTCTACGAGACCCTCCG 0.552000 74 139 0 0 1 0 0 POFUT1 23509 broad.mit.edu 37 20 30803176 30803176 + Nonsense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr20:30803176G>A ENST00000375749.3 + 3 413 c.351G>A c.(349-351)tgG>tgA p.W117* POFUT1_ENST00000539210.1_Intron|POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000375730.3_Nonsense_Mutation_p.W117* NM_015352.1 NP_056167.1 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 117 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCACCCACTGGCCCCCTGAGA 0.592000 4 182 0 0 1 0 0 EVI5 7813 broad.mit.edu 37 1 92979317 92979317 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:92979317C>G ENST00000370331.1 - 18 2338 c.2329G>C c.(2329-2331)Gag>Cag p.E777Q EVI5_ENST00000543509.1_Missense_Mutation_p.E788Q|EVI5_ENST00000540033.1_Missense_Mutation_p.E777Q NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 777 Interaction with AURKB and INCENP.|Targeting to the centrosomes. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) GTTTCGCTCTCACTACCATCT 0.478000 60 73 0 0 1 0 0 ALG13 79868 broad.mit.edu 37 X 110951458 110951458 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:110951458C>T ENST00000394780.3 + 4 599 c.587C>T c.(586-588)cCt>cTt p.P196L ALG13_ENST00000251943.4_Missense_Mutation_p.P92L|ALG13-AS1_ENST00000430794.1_RNA NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 196 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 TTTCCTCTCCCTCTTACCCCC 0.473000 8 56 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11893574 11893574 + Silent SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:11893574C>G ENST00000346436.6 + 14 1303 c.1251C>G c.(1249-1251)gtC>gtG p.V417V CLCN6_ENST00000376496.3_Silent_p.V417V|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Silent_p.V395V NM_001286.3 NP_001277 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 417 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-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;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) CTTCTCAGGTCACAGAAGATG 0.468000 19 91 0 0 1 0 0 VASH1 22846 broad.mit.edu 37 14 77245314 77245314 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:77245314G>A ENST00000167106.4 + 7 1684 c.1051G>A c.(1051-1053)Gag>Aag p.E351K VASH1_ENST00000554743.1_5'UTR|RP11-488C13.6_ENST00000556368.1_RNA|RP11-488C13.7_ENST00000553758.1_lincRNA NM_014909.4 NP_055724.1 Q7L8A9 VASH1_HUMAN vasohibin 1 351 Involved in heparin-binding and antiangiogenic activity. cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3) 10 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) GAAGACTTCCGAGCCCAAAGC 0.632000 64 121 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237666723 237666723 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:237666723G>C ENST00000366574.2 + 22 2848 c.2531G>C c.(2530-2532)aGa>aCa p.R844T RYR2_ENST00000542537.1_Missense_Mutation_p.R828T|RYR2_ENST00000360064.6_Missense_Mutation_p.R842T NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 844 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AAGCAAGAAAGAACTTACACA 0.502000 32 51 0 0 1 0 0 LPAR6 10161 broad.mit.edu 37 13 48985593 48985593 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr13:48985593C>T ENST00000378434.4 - 7 2591 c.967G>A c.(967-969)Gag>Aag p.E323K LPAR6_ENST00000345941.2_Missense_Mutation_p.E323K|RB1_ENST00000267163.4_Intron NM_005767.5 NP_005758.2 P43657 LPAR6_HUMAN lysophosphatidic acid receptor 6 323 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.0?(15)|p.?(4) NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 14 ATAAAATTCTCTGCACCATGA 0.358000 99 90 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107423779 107423779 + Silent SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:107423779C>A ENST00000394872.2 - 25 2331 c.2100G>T c.(2098-2100)ggG>ggT p.G700G COL4A6_ENST00000545689.1_Silent_p.G699G|COL4A6_ENST00000538570.1_Silent_p.G699G|COL4A6_ENST00000334504.7_Silent_p.G699G|COL4A6_ENST00000372216.4_Silent_p.G700G Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 700 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 ATCCTGGACTCCCTGGCTCTC 0.517000 Alport syndrome with Diffuse Leiomyomatosis 51 13 1.57914e-17 1.64474e-17 1 1 0 CACNA2D1 781 broad.mit.edu 37 7 81589093 81589093 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:81589093C>T ENST00000356860.3 - 37 3357 c.3019G>A c.(3019-3021)Gag>Aag p.E1007K CACNA2D1_ENST00000535308.1_Missense_Mutation_p.E219K|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.E1019K NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 1019 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CCTTTGCTCTCAACCATTATG 0.368000 23 58 0 0 1 0 0 OARD1 221443 broad.mit.edu 37 6 41036642 41036642 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:41036642C>G ENST00000479950.1 - 5 607 c.294G>C c.(292-294)aaG>aaC p.K98N OARD1_ENST00000464633.1_Intron|OARD1_ENST00000463088.1_Missense_Mutation_p.K98N|OARD1_ENST00000486443.1_Missense_Mutation_p.K59N|OARD1_ENST00000373154.2_Intron|OARD1_ENST00000480585.1_Intron|OARD1_ENST00000468811.1_Missense_Mutation_p.K98N|OARD1_ENST00000244558.9_Intron|OARD1_ENST00000482515.1_Intron|OARD1_ENST00000424266.2_Missense_Mutation_p.K98N O-acyl-ADP-ribose deacylase 1 CCTCTAAACTCTTCTGTAAGT 0.398000 30 49 0 0 1 0 0 IMMT 10989 broad.mit.edu 37 2 86371654 86371654 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:86371654G>C ENST00000410111.3 - 15 2401 c.2014C>G c.(2014-2016)Cag>Gag p.Q672E IMMT_ENST00000442664.2_Missense_Mutation_p.Q671E|IMMT_ENST00000409051.2_Missense_Mutation_p.Q625E|IMMT_ENST00000449247.2_Missense_Mutation_p.Q661E|IMMT_ENST00000254636.5_Missense_Mutation_p.Q573E NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 672 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TTCAGTTGCTGAGGTGGGAAT 0.468000 57 71 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 85 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167855779 167855779 + Nonsense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:167855779C>T ENST00000265293.4 + 13 2489 c.1987C>T c.(1987-1989)Cag>Tag p.Q663* WWC1_ENST00000521089.1_Nonsense_Mutation_p.Q663* NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 663 C2. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GACCCGAATTCAGATTGCCCT 0.542000 34 50 0 0 1 0 0 MX1 4599 broad.mit.edu 37 21 42824764 42824764 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr21:42824764G>A ENST00000398600.2 + 18 2751 c.1726G>A c.(1726-1728)Gag>Aag p.E576K MX1_ENST00000288383.6_Missense_Mutation_p.E553K|MX1_ENST00000455164.2_Missense_Mutation_p.E576K|MX1_ENST00000398598.3_Missense_Mutation_p.E576K NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 576 GED. induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) TTCCATGGAGGAGATCTTTCA 0.498000 87 249 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810937 7810937 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:7810937G>A ENST00000315599.7 - 4 237 c.215C>T c.(214-216)tCc>tTc p.S72F CD209_ENST00000394173.4_Missense_Mutation_p.S72F|CD209_ENST00000601951.1_Missense_Mutation_p.S48F|CD209_ENST00000394161.5_Missense_Mutation_p.S72F|CD209_ENST00000354397.6_Missense_Mutation_p.S72F|CD209_ENST00000593660.1_Missense_Mutation_p.S48F|CD209_ENST00000204801.8_Missense_Mutation_p.S28F|CD209_ENST00000315591.8_Missense_Mutation_p.S48F|CD209_ENST00000593821.1_Missense_Mutation_p.S28F|CD209_ENST00000601256.1_Missense_Mutation_p.S48F|CD209_ENST00000602261.1_Missense_Mutation_p.S72F|CD209_ENST00000301357.8_Missense_Mutation_p.S28F NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 72 cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GTCTTGCCTGGATTGTTCCTG 0.502000 60 150 0 0 1 0 0 KDM8 79831 broad.mit.edu 37 16 27224909 27224909 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr16:27224909G>A ENST00000286096.4 + 3 675 c.502G>A c.(502-504)Gca>Aca p.A168T CTD-3203P2.1_ENST00000567108.1_RNA|KDM8_ENST00000568965.1_Intron|KDM8_ENST00000380948.2_Intron|KDM8_ENST00000441782.2_Missense_Mutation_p.A206T NM_024773.2 NP_079049.2 Q8N371 KDM8_HUMAN lysine (K)-specific demethylase 8 168 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen TAAACAGAAAGCAAGGGCGGA 0.478000 66 46 0 0 1 0 0 FBXW5 54461 broad.mit.edu 37 9 139836610 139836610 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr9:139836610G>A ENST00000325285.3 - 6 1063 c.984C>T c.(982-984)gcC>gcT p.A328A FBXW5_ENST00000483559.1_5'UTR NM_018998.3 NP_061871.1 Q969U6 FBXW5_HUMAN F-box and WD repeat domain containing 5 328 catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) CCAGCAGCTCGGCCACCTTGG 0.677000 3 13 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48145334 48145334 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:48145334G>A ENST00000418331.2 + 5 1138 c.786G>A c.(784-786)ctG>ctA p.L262L PTPRJ_ENST00000440289.2_Silent_p.L262L NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 262 Fibronectin type-III 2. contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TCTCGGGCCTGAAGCCAGGGG 0.488000 34 75 0 0 1 0 0 CERS5 91012 broad.mit.edu 37 12 50529517 50529517 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:50529517G>A ENST00000317551.6 - 8 994 c.870C>T c.(868-870)ttC>ttT p.F290F CERS5_ENST00000422340.2_Silent_p.F232F NM_147190.2 NP_671723.1 Q8N5B7 CERS5_HUMAN ceramide synthase 5 290 TLC. ceramide biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity CCACTTACCAGAATGGATAGA 0.413000 32 96 0 0 1 0 0 MCOLN1 57192 broad.mit.edu 37 19 7591392 7591392 + Missense_Mutation SNP G G C rs139377969 byFrequency TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:7591392G>C ENST00000264079.6 + 3 430 c.305G>C c.(304-306)cGa>cCa p.R102P NM_020533.2 NP_065394.1 Q9GZU1 MCLN1_HUMAN mucolipin 1 102 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ATCGCCTTCCGACACCTCTTC 0.587000 81 96 0 0 1 0 0 TOP3A 7156 broad.mit.edu 37 17 18194165 18194165 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:18194165C>G ENST00000321105.5 - 12 1672 c.1458G>C c.(1456-1458)tgG>tgC p.W486C TOP3A_ENST00000542570.1_Missense_Mutation_p.W391C|TOP3A_ENST00000540524.1_Missense_Mutation_p.W16C NM_004618.3 NP_004609.1 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 486 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 CCTTGTCACTCCAGTGATCAT 0.498000 46 59 0 0 1 0 0 XXYLT1 152002 broad.mit.edu 37 3 194991365 194991365 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:194991365G>A ENST00000310380.6 - 1 531 c.423C>T c.(421-423)ttC>ttT p.F141F NM_152531.4 NP_689744.3 Q8NBI6 CC021_HUMAN xyloside xylosyltransferase 1 141 integral to membrane transferase activity, transferring glycosyl groups CCTCGCTCACGAAGTGAAGGT 0.711000 12 12 0 0 1 0 0 TNNT3 7140 broad.mit.edu 37 11 1955621 1955621 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:1955621G>A ENST00000381558.1 + 11 681 c.402G>A c.(400-402)aaG>aaA p.K134K TNNT3_ENST00000381549.3_Silent_p.K134K|TNNT3_ENST00000381589.3_Silent_p.K140K|TNNT3_ENST00000397304.2_Silent_p.K123K|TNNT3_ENST00000397301.1_Silent_p.K153K|TNNT3_ENST00000446240.1_Silent_p.K123K|TNNT3_ENST00000381561.4_Silent_p.K145K|TNNT3_ENST00000360603.3_Silent_p.K136K|TNNT3_ENST00000381548.3_Silent_p.K144K|TNNT3_ENST00000381579.3_Silent_p.K134K|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000278317.6_Silent_p.K142K P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) 153 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) ACGACCTGAAGAAGAAGAAAG 0.582000 15 34 0 0 1 0 0 BMPR2 659 broad.mit.edu 37 2 203417517 203417517 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:203417517G>C ENST00000374580.4 + 11 2031 c.1492G>C c.(1492-1494)Gag>Cag p.E498Q BMPR2_ENST00000374574.2_Missense_Mutation_p.E498Q NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 498 Protein kinase. anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 ACAGTGTGCTGAGGAAAGGAT 0.463000 140 72 0 0 1 0 0 LOC728323 728323 broad.mit.edu 37 2 243037115 243037115 + RNA SNP A A G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:243037115A>G ENST00000456398.1 + 0 247 GGCTGGAAGAATTGTGAATCT 0.398000 4 109 0 0 1 0 0 SCYL2 55681 broad.mit.edu 37 12 100732781 100732781 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:100732781C>G ENST00000360820.2 + 18 3058 c.2621C>G c.(2620-2622)tCt>tGt p.S874C NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) 874 Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes. endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 CCTCAAGGTTCTCCAACTATG 0.418000 53 165 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2210146 2210146 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr4:2210146G>C ENST00000511885.2 - 5 635 c.282C>G c.(280-282)gtC>gtG p.V94V POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Silent_p.V94V Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 94 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) CTGTGAGCCTGACACTGAAGG 0.393000 DNA polymerases (catalytic subunits) 65 78 0 0 1 0 0 IGKV1-9 28941 broad.mit.edu 37 2 89309936 89309936 + RNA SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:89309936C>T ENST00000493819.1 - 0 76 AGGAGCTGAGCGGGGACCCTC 0.577000 62 135 0 0 1 0 0 NUDT22 84304 broad.mit.edu 37 11 63996766 63996766 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:63996766C>T ENST00000279206.3 + 4 783 c.627C>T c.(625-627)atC>atT p.I209I NUDT22_ENST00000441250.2_Silent_p.I176I|RP11-783K16.14_ENST00000534988.1_RNA NM_001128612.2|NM_032344.2 NP_001122084.1|NP_115720 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 22 209 Nudix hydrolase. hydrolase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 TGTTGGGCATCGCCCGAAATG 0.632000 9 15 0 0 1 0 0 BRD2 6046 broad.mit.edu 37 6 32944218 32944218 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:32944218C>A ENST00000395289.2 + 6 2403 c.802C>A c.(802-804)Cct>Act p.P268T BRD2_ENST00000374825.4_Missense_Mutation_p.P268T|BRD2_ENST00000443797.2_Missense_Mutation_p.P148T|BRD2_ENST00000374831.4_Missense_Mutation_p.P268T|BRD2_ENST00000449085.2_Missense_Mutation_p.P221T|BRD2_ENST00000395287.1_Missense_Mutation_p.P268T P25440 BRD2_HUMAN bromodomain containing 2 268 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 TACTGCAGCTCCTCCAGCCCA 0.557000 40 52 1.96642e-18 2.05442e-18 1 1 0 WASH3P 374666 broad.mit.edu 37 15 102516455 102516455 + RNA SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:102516455G>A ENST00000557932.1 + 0 1403 central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 GGACGAGGACGACTGGGAATC 0.652000 4 88 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48502189 48502189 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr4:48502189C>T ENST00000537810.1 - 63 9245 c.8641G>A c.(8641-8643)Gaa>Aaa p.E2881K FRYL_ENST00000264319.7_Missense_Mutation_p.E271K|FRYL_ENST00000503238.1_Missense_Mutation_p.E2881K|FRYL_ENST00000507873.2_Missense_Mutation_p.E271K|FRYL_ENST00000358350.4_Missense_Mutation_p.E2881K O94915 FRYL_HUMAN FRY-like 2881 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GACTCAGCTTCTTTGAGGATA 0.353000 23 60 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50048947 50048947 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr20:50048947C>G ENST00000371564.3 - 9 2598 c.2379G>C c.(2377-2379)caG>caC p.Q793H NFATC2_ENST00000414705.1_Missense_Mutation_p.Q773H|NFATC2_ENST00000396009.3_Missense_Mutation_p.Q793H|NFATC2_ENST00000609943.1_Missense_Mutation_p.Q773H|NFATC2_ENST00000609507.1_Missense_Mutation_p.Q574H|NFATC2_ENST00000610033.1_Missense_Mutation_p.Q574H NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 793 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) GGGCTGAGCTCTGGCCCTGGG 0.697000 27 61 0 0 1 0 0 EIF2B5 8893 broad.mit.edu 37 3 183862399 183862399 + Silent SNP C C T rs113994086 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:183862399C>T ENST00000273783.3 + 15 2132 c.2010C>T c.(2008-2010)ttC>ttT p.F670F EIF2B5_ENST00000444495.1_Silent_p.F670F NM_003907.2 NP_003898.2 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 670 W2. astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1) 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TGATGGCTTTCTACCAGCTGG 0.522000 20 43 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89521651 89521651 + Missense_Mutation SNP A A T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:89521651A>T ENST00000336596.2 + 16 2953 c.2728A>T c.(2728-2730)Atc>Ttc p.I910F EPHA3_ENST00000494014.1_Missense_Mutation_p.I910F NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 910 extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CAATGTGGATATCACTACCTT 0.468000 TSP Lung(6;0.00050) 105 144 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79175708 79175708 + Missense_Mutation SNP A A G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:79175708A>G ENST00000554719.1 + 4 742 c.251A>G c.(250-252)tAc>tGc p.Y84C RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.Y84C NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 angiogenesis|cell adhesion integral to membrane p.Y84S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CCAGAGGCTTACATCAGCTTG 0.502000 28 59 0 0 1 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307533 46307533 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:46307533G>A ENST00000221538.3 - 3 1772 c.1630C>T c.(1630-1632)Cac>Tac p.H544Y RSPH6A_ENST00000600188.1_Missense_Mutation_p.H280Y|RSPH6A_ENST00000597055.1_Missense_Mutation_p.H544Y NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 544 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 TGCTGTGTGTGATGCACCCAG 0.637000 36 55 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17430001 17430001 + Nonsense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:17430001C>A ENST00000302539.4 - 23 2886 c.2761G>T c.(2761-2763)Gaa>Taa p.E921* ABCC8_ENST00000389817.3_Nonsense_Mutation_p.E920* NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 920 ABC transporter 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) AGCTGGCATTCAGACCTCTGG 0.567000 52 98 4.86159e-25 5.13463e-25 1 1 0 GPS1 2873 broad.mit.edu 37 17 80012789 80012789 + Nonsense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:80012789C>T ENST00000392358.2 + 5 1094 c.745C>T c.(745-747)Cag>Tag p.Q249* GPS1_ENST00000578552.1_Nonsense_Mutation_p.Q209*|GPS1_ENST00000306823.6_Nonsense_Mutation_p.Q213*|GPS1_ENST00000355130.2_Nonsense_Mutation_p.Q249*|GPS1_ENST00000320548.4_Nonsense_Mutation_p.Q193* NM_212492.1 NP_997657.1 Q13098 CSN1_HUMAN G protein pathway suppressor 1 213 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CGTCTACTTGCAGAATTGGTC 0.672000 38 59 0 0 1 0 0 GARS 2617 broad.mit.edu 37 7 30649204 30649204 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:30649204G>C ENST00000389266.3 + 7 980 c.739G>C c.(739-741)Gat>Cat p.D247H NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 247 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) CTTTTAGCTTGATAACTATGG 0.333000 102 195 0 0 1 0 0 ZNF529 57711 broad.mit.edu 37 19 37038988 37038988 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:37038988G>C ENST00000334116.7 - 6 767 c.157C>G c.(157-159)Ctt>Gtt p.L53V ZNF529_ENST00000591340.1_Missense_Mutation_p.L158V NM_001145650.1 NP_001139122.1 Q6P280 ZN529_HUMAN zinc finger protein 529 125 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) GGTAAAGTAAGAGATTCATGA 0.373000 54 72 0 0 1 0 0 ZNF114 163071 broad.mit.edu 37 19 48789265 48789265 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:48789265G>A ENST00000595607.1 + 6 878 c.384G>A c.(382-384)atG>atA p.M128I ZNF114_ENST00000600687.1_Missense_Mutation_p.M128I|ZNF114_ENST00000597695.1_Missense_Mutation_p.M94I|ZNF114_ENST00000315849.1_Missense_Mutation_p.M128I Q8NC26 ZN114_HUMAN zinc finger protein 114 128 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11) 18 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) ATCATGAAATGAGGAACCACT 0.448000 52 81 0 0 1 0 0 SLMAP 7871 broad.mit.edu 37 3 57898358 57898358 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:57898358G>C ENST00000295951.3 + 18 3065 c.1848G>C c.(1846-1848)ctG>ctC p.L616L SLMAP_ENST00000495364.1_Silent_p.L167L|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000416870.1_Silent_p.L126L|SLMAP_ENST00000428312.1_Silent_p.L633L|SLMAP_ENST00000449503.2_Silent_p.L595L|SLMAP_ENST00000295952.3_Silent_p.L616L|SLMAP_ENST00000442599.2_Silent_p.L101L|SLMAP_ENST00000494088.1_Silent_p.L126L Q14BN4 SLMAP_HUMAN sarcolemma associated protein 633 muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) TCACAAGTCTGCAAAACAGTT 0.418000 33 54 0 0 1 0 0 FBXO27 126433 broad.mit.edu 37 19 39521925 39521925 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:39521925C>A ENST00000292853.4 - 3 519 c.400G>T c.(400-402)Gac>Tac p.D134Y FBXO27_ENST00000509137.2_Missense_Mutation_p.D134Y|FBXO27_ENST00000600828.1_Missense_Mutation_p.D133Y|CTB-189B5.3_ENST00000597303.1_RNA NM_178820.3 NP_849142.1 Q8NI29 FBX27_HUMAN F-box protein 27 134 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2) 17 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) ACCCAGCCGTCCCCACCGTGT 0.567000 31 52 1.39806e-14 1.44061e-14 1 1 0 KIAA0196 9897 broad.mit.edu 37 8 126093934 126093934 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:126093934C>T ENST00000318410.7 - 5 836 c.487G>A c.(487-489)Gag>Aag p.E163K KIAA0196_ENST00000517845.1_Missense_Mutation_p.E15K NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 163 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) AGCATCCTCTCTCTGACTTCT 0.433000 63 72 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41551100 41551100 + Nonsense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr22:41551100C>T ENST00000263253.7 + 17 4463 c.3244C>T c.(3244-3246)Cag>Tag p.Q1082* NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1082 Bromo. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TGTGGACCCTCAGCTTTTAGG 0.393000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 149 79 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27406597 27406597 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:27406597C>G ENST00000326799.3 - 16 1946 c.1798G>C c.(1798-1800)Gaa>Caa p.E600Q YME1L1_ENST00000376016.3_Missense_Mutation_p.E543Q|YME1L1_ENST00000375972.3_Missense_Mutation_p.E510Q NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 600 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 TGACCAGATTCATGATATGCT 0.363000 56 122 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112102988 112102988 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:112102988G>C ENST00000457016.1 + 4 703 c.323G>C c.(322-324)gGa>gCa p.G108A APC_ENST00000508376.2_Missense_Mutation_p.G108A|APC_ENST00000257430.4_Missense_Mutation_p.G108A P25054 APC_HUMAN adenomatous polyposis coli 108 Leu-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AGCCGTTCTGGAGAGTGCAGT 0.433000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 62 93 0 0 1 0 0 TEKT2 27285 broad.mit.edu 37 1 36550832 36550832 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:36550832G>A ENST00000207457.3 + 3 352 c.225G>A c.(223-225)aaG>aaA p.K75K NM_014466.2 NP_055281.2 Q9UIF3 TEKT2_HUMAN tektin 2 (testicular) 75 cell projection organization|microtubule cytoskeleton organization actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ACCGGTGGAAGGAGATGCTGG 0.552000 32 49 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43592074 43592074 + RNA SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:43592074C>T ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA TTTGCACTTTCTAAAATGGAA 0.453000 17 196 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18876447 18876447 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:18876447G>A ENST00000266505.7 - 4 428 c.165C>T c.(163-165)atC>atT p.I55I PLCZ1_ENST00000435379.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000447925.2_Silent_p.I53I|PLCZ1_ENST00000539875.1_Intron Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 55 EF-hand. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CTTCTATGGTGATTCTTCCTT 0.308000 20 61 0 0 1 0 0 MC5R 4161 broad.mit.edu 37 18 13826052 13826052 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr18:13826052C>T ENST00000324750.3 + 1 510 c.288C>T c.(286-288)atC>atT p.I96I NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 96 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 CCATCACCATCTACCTACTCA 0.522000 32 67 0 0 1 0 0 MED16 10025 broad.mit.edu 37 19 884913 884913 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:884913G>A ENST00000312090.6 - 6 1125 c.975C>T c.(973-975)atC>atT p.I325I MED16_ENST00000589119.1_Silent_p.I325I|MED16_ENST00000395808.3_Silent_p.I325I|MED16_ENST00000325464.1_Silent_p.I325I|MED16_ENST00000269814.4_Silent_p.I325I|MED16_ENST00000606828.1_Intron Q9Y2X0 MED16_HUMAN mediator complex subunit 16 325 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCACGGGGGAGATCTGCTGGA 0.642000 11 16 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101606888 101606888 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:101606888C>T ENST00000335681.5 + 18 2283 c.1998C>T c.(1996-1998)ttC>ttT p.F666F NPAS2_ENST00000542504.1_Silent_p.F731F NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 666 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCCCAGACTTCAGCCATGATC 0.552000 26 47 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48954210 48954210 + Nonsense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr13:48954210C>T ENST00000267163.4 + 15 1549 c.1411C>T c.(1411-1413)Caa>Taa p.Q471* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 471 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)|p.Q471*(1) 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) ATTATCCATTCAAAATTTTAG 0.199000 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) 14 27 0 0 1 0 0 RNF39 80352 broad.mit.edu 37 6 30040942 30040942 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:30040942C>T ENST00000244360.6 - 3 771 c.674G>A c.(673-675)aGa>aAa p.R225K RNF39_ENST00000376751.3_Missense_Mutation_p.R225K NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 225 B30.2/SPRY. cytoplasm zinc ion binding ACCTGTCAGTCTATGAAGCAT 0.398000 52 81 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120587840 120587840 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:120587840G>C ENST00000300648.6 - 35 4329 c.4317C>G c.(4315-4317)ctC>ctG p.L1439L NM_006836.1 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1439 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CGAAGGCAAAGAGGGCTCCTA 0.577000 8 47 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 186997957 186997957 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr4:186997957C>G ENST00000296795.3 + 2 288 c.184C>G c.(184-186)Caa>Gaa p.Q62E NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TACCCATAATCAACTCAGAAG 0.453000 24 74 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47951694 47951694 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:47951694G>A ENST00000426837.2 - 10 4355 c.4268C>T c.(4267-4269)gCc>gTc p.A1423V MAP4_ENST00000264724.11_Missense_Mutation_p.A13V|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 808 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) GTCCATATAGGCCATTCCTTC 0.408000 26 49 0 0 1 0 0 ZC3H12D 340152 broad.mit.edu 37 6 149795653 149795653 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:149795653G>A ENST00000389942.5 - 2 274 c.27C>T c.(25-27)ttC>ttT p.F9F ZC3H12D_ENST00000409806.3_Silent_p.F9F|ZC3H12D_ENST00000416573.2_Silent_p.F9F|ZC3H12D_ENST00000409948.1_Silent_p.F9F|ZC3H12D_ENST00000542614.1_Silent_p.F9F A2A288 ZC12D_HUMAN zinc finger CCCH-type containing 12D 9 cytoplasm|nucleus endonuclease activity|nucleic acid binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921) GCTTCTGGAAGAATTCCATCT 0.632000 10 17 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117282538 117282538 + Missense_Mutation SNP C C T rs76649725 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:117282538C>T ENST00000003084.6 + 23 3896 c.3764C>T c.(3763-3765)tCa>tTa p.S1255L AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.S1194L NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1255 ABC transporter 2. S -> P (in CF). respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding p.S1255*(1) NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) ACTTTGTTATCAGCTTTTTTG 0.433000 Cystic Fibrosis 37 70 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36898549 36898549 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:36898549G>C ENST00000429976.2 - 12 2779 c.2532C>G c.(2530-2532)ctC>ctG p.L844L TRANK1_ENST00000428977.2_Silent_p.L294L|TRANK1_ENST00000301807.6_Silent_p.L294L NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 844 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TAGCTTCGAAGAGCTGGATGC 0.547000 39 55 0 0 1 0 0 IGKV1-16 28938 broad.mit.edu 37 2 89399437 89399437 + RNA SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:89399437G>A ENST00000479981.1 - 0 292 ATCTGTCCCAGATCCACTGCC 0.493000 152 278 0 0 1 0 0 HTATSF1 27336 broad.mit.edu 37 X 135593382 135593382 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:135593382G>A ENST00000535601.1 + 10 1900 c.1478G>A c.(1477-1479)gGa>gAa p.G493E HTATSF1_ENST00000218364.4_Missense_Mutation_p.G493E NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 493 Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) CCCGTAAGAGGATCTGAAGAG 0.443000 50 13 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124408588 124408588 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:124408588G>A ENST00000287394.5 - 1 117 c.10C>T c.(10-12)Ctc>Ttc p.L4F ATAD2_ENST00000521903.1_Intron NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 4 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) CTGCTGCGGAGAACCACCATC 0.652000 8 23 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131191231 131191231 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:131191231C>G ENST00000337057.3 - 15 2260 c.2079G>C c.(2077-2079)aaG>aaC p.K693N EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.K623N|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.K71N|EPB41L2_ENST00000529208.1_Missense_Mutation_p.K623N|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.K693N|EPB41L2_ENST00000527659.1_Missense_Mutation_p.K623N|EPB41L2_ENST00000527411.1_Missense_Mutation_p.K623N|EPB41L2_ENST00000525193.1_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 693 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTGCCCGCTTCTTCTCCTCCA 0.408000 34 81 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216257848 216257848 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:216257848G>C ENST00000354785.4 - 25 4244 c.3875C>G c.(3874-3876)tCt>tGt p.S1292C FN1_ENST00000446046.1_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000356005.4_Intron|FN1_ENST00000432072.2_Missense_Mutation_p.S1292C|FN1_ENST00000336916.4_Intron|FN1_ENST00000359671.1_Intron|FN1_ENST00000346544.3_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000421182.1_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000357867.4_Intron|FN1_ENST00000323926.6_Missense_Mutation_p.S1292C P02751 FINC_HUMAN fibronectin 1 1292 Cell-attachment.|Fibronectin type-III 8. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AATGGTGGAAGAGTTTAGCGG 0.468000 43 27 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47246118 47246118 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:47246118C>T ENST00000300404.2 + 10 1410 c.1351C>T c.(1351-1353)Cac>Tac p.H451Y B4GALNT2_ENST00000393354.2_Missense_Mutation_p.H391Y|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.H365Y NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 451 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) GGCCTGCCTTCACAAGAGGAT 0.557000 29 34 0 0 1 0 0 MYLK3 91807 broad.mit.edu 37 16 46746605 46746605 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr16:46746605G>A ENST00000394809.4 - 10 2184 c.2069C>T c.(2068-2070)tCa>tTa p.S690L MYLK3_ENST00000536476.1_Missense_Mutation_p.S349L NM_182493.2 NP_872299.2 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 690 Protein kinase. cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3) 37 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TGTGGGGAATGAGACAAACTC 0.537000 26 84 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31324989 31324989 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr18:31324989C>G ENST00000269197.5 + 12 5177 c.5177C>G c.(5176-5178)gCc>gGc p.A1726G NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1726 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 GCTACCGATGCCCTGAAGAGA 0.557000 35 56 0 0 1 0 0 C14orf159 80017 broad.mit.edu 37 14 91655351 91655351 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:91655351C>T ENST00000518868.1 + 12 1722 c.1032C>T c.(1030-1032)ttC>ttT p.F344F C14orf159_ENST00000522322.1_Silent_p.F339F|C14orf159_ENST00000523771.1_Silent_p.F339F|C14orf159_ENST00000520328.1_Silent_p.F327F|C14orf159_ENST00000523816.1_Silent_p.F339F|C14orf159_ENST00000428926.2_Silent_p.F339F|C14orf159_ENST00000256324.10_Silent_p.F344F|C14orf159_ENST00000521077.2_Silent_p.F344F|C14orf159_ENST00000525393.2_Silent_p.F215F|C14orf159_ENST00000412671.2_Silent_p.F344F Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 339 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) CCACTGGGTTCCCCACACATT 0.587000 36 45 0 0 1 0 0 TUBBP1 92755 broad.mit.edu 37 8 30210560 30210560 + RNA SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:30210560C>T ENST00000518096.1 + 0 1172 GAATGGATCCCCAACAATATC 0.527000 48 46 0 0 1 0 0 LUZP2 338645 broad.mit.edu 37 11 24759795 24759795 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:24759795C>T ENST00000533227.1 + 4 309 c.22C>T c.(22-24)Ctg>Ttg p.L8L LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000336930.6_Silent_p.L94L NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 94 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 TCAGGAGGCCCTGCAAAATCA 0.358000 38 63 0 0 1 0 0 TRAV5 28688 broad.mit.edu 37 14 22217932 22217932 + RNA SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:22217932C>T ENST00000390427.3 + 0 295 ACATCTGTCTCTGCGCATTGC 0.438000 40 77 0 0 1 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39914197 39914197 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:39914197G>A ENST00000425673.1 + 16 2741 c.2416G>A c.(2416-2418)Gag>Aag p.E806K PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E776K|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.E835K Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 835 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) GCAGCGGGCGGAGACTCGGGC 0.697000 8 16 0 0 1 0 0 LRRC10 376132 broad.mit.edu 37 12 70004086 70004086 + Missense_Mutation SNP C C T rs138855649 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:70004086C>T ENST00000361484.3 - 1 856 c.533G>A c.(532-534)cGg>cAg p.R178Q NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 178 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) GTCAGTTAGCCGGTTGCCCGA 0.612000 31 305 0 0 1 0 0 HDLBP 3069 broad.mit.edu 37 2 242186541 242186541 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:242186541G>A ENST00000391975.1 - 15 1975 c.1748C>T c.(1747-1749)tCa>tTa p.S583L HDLBP_ENST00000310931.4_Missense_Mutation_p.S583L|HDLBP_ENST00000427183.2_Missense_Mutation_p.S550L|HDLBP_ENST00000391976.2_Missense_Mutation_p.S583L NM_203346.3 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 583 KH 6. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) AACAGAAATTGAATAGCTATT 0.408000 24 13 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103701709 103701709 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr13:103701709G>C ENST00000245312.3 - 5 1445 c.849C>G c.(847-849)ctC>ctG p.L283L NM_000452.2 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 283 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ATACGACATTGAGCTCCTCAG 0.478000 42 116 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55534023 55534023 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:55534023C>T ENST00000220676.1 + 2 645 c.497C>T c.(496-498)aCg>aTg p.T166M NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 166 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.T166M(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GACCCGAAGACGAGGCGTGCG 0.642000 74 106 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18730069 18730069 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:18730069G>C ENST00000440756.2 - 3 407 c.305C>G c.(304-306)tCt>tGt p.S102C PSD3_ENST00000327040.8_Missense_Mutation_p.S102C|PSD3_ENST00000523619.1_Missense_Mutation_p.S37C Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 102 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) GTCGAGCCCAGAGTGGCAGCC 0.522000 49 42 0 0 1 0 0 RPAP3 79657 broad.mit.edu 37 12 48084423 48084423 + Splice_Site SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:48084423C>G ENST00000005386.3 - 6 661 c.e6-1 RPAP3_ENST00000380650.4_Splice_Site|RPAP3_ENST00000432584.3_Splice_Site NM_024604.2 NP_078880.2 Q9H6T3 RPAP3_HUMAN RNA polymerase II associated protein 3 binding endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Lung SC(27;0.192) AACAGCAAATCTGCaatttaa 0.299000 94 163 0 0 1 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 4 80 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137727353 137727353 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:137727353C>T ENST00000314358.5 + 8 2232 c.2032C>T c.(2032-2034)Cac>Tac p.H678Y KDM3B_ENST00000394866.1_Missense_Mutation_p.H334Y|KDM3B_ENST00000542866.1_Intron NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 678 Ser-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GCCCGAGTCTCACTCCTCTGC 0.512000 51 97 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46652706 46652706 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr22:46652706G>A ENST00000253255.5 - 1 6513 c.6514C>T c.(6514-6516)Ctg>Ttg p.L2172L NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 2172 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TATGCAGACAGAATTACAGCC 0.453000 51 36 0 0 1 0 0 IFNK 56832 broad.mit.edu 37 9 27524545 27524545 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr9:27524545G>A ENST00000276943.2 + 1 234 c.211G>A c.(211-213)Gag>Aag p.E71K MOB3B_ENST00000262244.5_Intron NM_020124.2 NP_064509.2 Q9P0W0 IFNK_HUMAN interferon, kappa 71 cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus extracellular space cytokine activity|interferon-alpha/beta receptor binding large_intestine(1) 1 all_neural(11;7.9e-11) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158) GTTGCCCCAAGAGTTTCTGCA 0.433000 56 100 0 0 1 0 0 E2F2 1870 broad.mit.edu 37 1 23847564 23847564 + Splice_Site SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:23847564C>T ENST00000361729.2 - 4 1005 c.e4-1 NM_004091.3 NP_004082.1 Q14209 E2F2_HUMAN E2F transcription factor 2 G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19) TCCCCTGCCTCTGGGAACAGA 0.552000 7 31 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179555520 179555520 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:179555520C>A ENST00000393371.2 - 4 825 c.529G>T c.(529-531)Gac>Tac p.D177Y RASGEF1C_ENST00000522500.1_Missense_Mutation_p.D26Y|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.D177Y|RASGEF1C_ENST00000519883.1_5'UTR Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 177 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ATGGGCTTGTCGGCACCCACC 0.637000 25 42 4.72057e-08 4.77702e-08 1 1 0 PZP 5858 broad.mit.edu 37 12 9313684 9313684 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:9313684C>G ENST00000261336.2 - 23 2845 c.2817G>C c.(2815-2817)ttG>ttC p.L939F PZP_ENST00000381997.2_Missense_Mutation_p.L725F|PZP_ENST00000539983.1_5'UTR NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 ATGGGAGCTTCAAGGACAACT 0.408000 50 108 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74274067 74274067 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:74274067G>C ENST00000409262.3 + 1 618 c.618G>C c.(616-618)caG>caC p.Q206H NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 206 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCCTGTCCCAGAGTGCCCTGA 0.627000 22 35 0 0 1 0 0 IBTK 25998 broad.mit.edu 37 6 82924503 82924503 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:82924503C>G ENST00000306270.7 - 12 2194 c.1645G>C c.(1645-1647)Gag>Cag p.E549Q IBTK_ENST00000503631.1_Intron|IBTK_ENST00000510291.1_Missense_Mutation_p.E549Q NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 549 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TTGCCAAACTCTTCAAAAAAG 0.348000 43 84 0 0 1 0 0 QSOX1 5768 broad.mit.edu 37 1 180166064 180166064 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:180166064C>T ENST00000367602.3 + 12 2210 c.2136C>T c.(2134-2136)ctC>ctT p.L712L QSOX1_ENST00000367600.5_Intron O00391 QSOX1_HUMAN quiescin Q6 sulfhydryl oxidase 1 712 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 ACATCAGCCTCTGTGTGGGGC 0.642000 46 30 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201982361 201982361 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:201982361G>A ENST00000359651.3 + 6 3932 c.740G>A c.(739-741)cGa>cAa p.R247Q ELF3_ENST00000367283.3_Missense_Mutation_p.R247Q|ELF3_ENST00000367284.5_Missense_Mutation_p.R247Q|RP11-510N19.5_ENST00000504773.1_RNA P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 247 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 AAGCGGAAACGAGGCCGGCCC 0.627000 40 53 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215848734 215848734 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:215848734C>T ENST00000366943.2 - 63 12905 c.12519G>A c.(12517-12519)ctG>ctA p.L4173L USH2A_ENST00000307340.3_Silent_p.L4173L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4173 Fibronectin type-III 27. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAGACCAGCTCAGCTCAACAC 0.522000 HNSCC(13;0.011) 18 93 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133381425 133381425 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:133381425C>T ENST00000204726.3 - 7 2032 c.1474G>A c.(1474-1476)Gag>Aag p.E492K GOLGA3_ENST00000450791.2_Missense_Mutation_p.E492K|GOLGA3_ENST00000545875.1_Missense_Mutation_p.E492K|GOLGA3_ENST00000456883.2_Missense_Mutation_p.E492K|GOLGA3_ENST00000537452.1_Missense_Mutation_p.E492K NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 492 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TTTTTTGCCTCCAGCATGTTC 0.602000 18 64 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113711320 113711320 + Splice_Site SNP C C T rs34802473 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:113711320C>T ENST00000003302.4 - 5 602 c.534G>A c.(532-534)caG>caA p.Q178Q USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Splice_Site_p.Q178Q|USP28_ENST00000545540.1_Splice_Site_p.Q53Q|USP28_ENST00000260188.5_Splice_Site_p.Q178Q NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 178 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) AATATCATACCTGAATAACAG 0.348000 29 23 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735289 55735289 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:55735289C>T ENST00000312345.2 - 1 701 c.651G>A c.(649-651)ttG>ttA p.L217L NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) ATGACAATTTCAAAATGTTGG 0.393000 31 57 0 0 1 0 0 TMEM164 84187 broad.mit.edu 37 X 109416667 109416667 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:109416667G>C ENST00000372073.1 + 7 1218 c.882G>C c.(880-882)aaG>aaC p.K294N TMEM164_ENST00000372072.3_Missense_Mutation_p.K145N|TMEM164_ENST00000288381.4_Missense_Mutation_p.K255N|TMEM164_ENST00000464177.1_3'UTR|TMEM164_ENST00000372068.2_Missense_Mutation_p.K294N Q5U3C3 TM164_HUMAN transmembrane protein 164 294 integral to membrane cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1) 14 TTCCAGCCAAGAAAATAGACT 0.458000 39 13 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56572730 56572730 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:56572730G>A ENST00000323456.5 - 16 2897 c.2773C>T c.(2773-2775)Cgg>Tgg p.R925W MTMR4_ENST00000579925.1_Missense_Mutation_p.R868W NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 925 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGCAGCCGCCGAGGGGTGGCC 0.567000 47 91 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154317616 154317616 + Missense_Mutation SNP T T C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:154317616T>C ENST00000368489.3 + 22 2555 c.2555T>C c.(2554-2556)gTc>gCc p.V852A NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 838 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCCAATGATGTCAGCATGATC 0.572000 OREG0013835 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 151 75 0 0 1 0 0 ABHD14A-ACY1 100526760 broad.mit.edu 37 3 52011891 52011891 + Missense_Mutation SNP T T C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:52011891T>C ENST00000463937.1 + 2 150 c.74T>C c.(73-75)gTg>gCg p.V25A ACY1_ENST00000458031.2_5'UTR|ABHD14B_ENST00000483233.1_Intron|ABHD14A_ENST00000491470.1_Missense_Mutation_p.V25A|ABHD14A_ENST00000273596.3_Missense_Mutation_p.V25A CTCCAGACTGTGGTACAGACC 0.617000 72 115 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88658696 88658696 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:88658696G>A ENST00000340700.5 - 5 1176 c.725C>T c.(724-726)gCc>gTc p.A242V KCNK10_ENST00000319231.5_Missense_Mutation_p.A247V|KCNK10_ENST00000312350.5_Missense_Mutation_p.A247V NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 242 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 AATGCAGCCGGCCAAGATGAA 0.502000 4 123 0 0 1 0 0 RBL2 5934 broad.mit.edu 37 16 53495763 53495763 + Splice_Site SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr16:53495763G>A ENST00000262133.6 + 10 1593 c.e10+1 RBL2_ENST00000544545.1_Splice_Site|RBL2_ENST00000379935.4_Splice_Site NM_005611.3 NP_005602.3 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TGTGCTAAAGGTAAGGTTTAA 0.328000 26 13 0 0 1 0 0 FARSA 2193 broad.mit.edu 37 19 13035075 13035075 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:13035075C>T ENST00000588025.1 - 13 1538 c.1398G>A c.(1396-1398)ctG>ctA p.L466L FARSA_ENST00000423140.2_Silent_p.L395L|FARSA_ENST00000314606.4_Silent_p.L426L Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 426 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) CCCACTTCTTCAGGCCTGCAG 0.607000 32 90 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810547 7810547 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:7810547G>A ENST00000315599.7 - 4 627 c.605C>T c.(604-606)gCa>gTa p.A202V CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.A178V|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.A202V|CD209_ENST00000593660.1_Missense_Mutation_p.A178V|CD209_ENST00000204801.8_Missense_Mutation_p.A158V|CD209_ENST00000315591.8_Missense_Mutation_p.A178V|CD209_ENST00000593821.1_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.A178V|CD209_ENST00000602261.1_Intron|CD209_ENST00000301357.8_Intron NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 202 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CTCACCCACTGCAGCCTTCAG 0.557000 15 187 0 0 1 0 0 ASTL 431705 broad.mit.edu 37 2 96799204 96799204 + Nonsense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:96799204G>A ENST00000342380.2 - 5 414 c.415C>T c.(415-417)Cag>Tag p.Q139* NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 139 proteolysis metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 CTCTGGTCCTGATAGGTGACA 0.557000 40 91 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68649536 68649536 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:68649536C>T ENST00000423218.2 - 7 797 c.702G>A c.(700-702)caG>caA p.Q234Q ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Silent_p.Q234Q Q9UKX5 ITA11_HUMAN integrin, alpha 11 234 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) TTCCTCCTCTCTGCTCAATGT 0.428000 23 41 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128575 152128575 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:152128575G>A ENST00000316073.3 - 3 1064 c.1000C>T c.(1000-1002)Cca>Tca p.P334S NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 334 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TGTCTGTCTGGCTGACTGTAG 0.483000 7 1360 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 146997502 146997502 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:146997502C>G ENST00000265272.5 - 19 2785 c.2318G>C c.(2317-2319)aGa>aCa p.R773T JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R731T|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R752T NM_001270941.1|NM_014790.4 NP_001257870.1|NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 773 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCTCCATTCTCTCCTGAAG 0.483000 41 48 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97426942 97426942 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:97426942C>T ENST00000377075.2 + 1 304 c.206C>T c.(205-207)tCc>tTc p.S69F NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 69 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 ATCTTCGTGTCCGAGGGCAGC 0.642000 13 48 0 0 1 0 0 CMSS1 84319 broad.mit.edu 37 3 99881159 99881159 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:99881159G>A ENST00000421999.2 + 4 384 c.238G>A c.(238-240)Gat>Aat p.D80N CMSS1_ENST00000489081.1_Missense_Mutation_p.D62N NM_032359.3 NP_115735.2 cms1 ribosomal small subunit homolog (yeast) GAAAATTACTGATGTTCTTGC 0.373000 45 68 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34628825 34628825 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:34628825C>T ENST00000354181.3 - 2 549 c.57G>A c.(55-57)ccG>ccA p.P19P SLC12A6_ENST00000558589.1_Silent_p.P10P|SLC12A6_ENST00000397702.2_Intron|SLC12A6_ENST00000558667.1_Silent_p.P19P|SLC12A6_ENST00000560611.1_Silent_p.P19P|SLC12A6_ENST00000397707.2_Silent_p.P19P|SLC12A6_ENST00000458406.2_Intron Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 19 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CGATCTTTGTCGGTGTCACCA 0.488000 29 118 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179622549 179622549 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:179622549G>A ENST00000589042.1 - 45 10622 c.10398C>T c.(10396-10398)agC>agT p.S3466S TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Silent_p.S3420S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3155 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) GCTGGATGAAGCTGGGCTTTT 0.458000 77 94 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116066898 116066898 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:116066898C>T ENST00000410059.1 + 2 624 c.144C>T c.(142-144)ctC>ctT p.L48L DPP10_ENST00000310323.8_Silent_p.L41L|DPP10_ENST00000393147.2_Silent_p.L52L|DPP10_ENST00000409163.1_5'UTR NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 48 Mediates effects on KCND2. proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TATGCTCACTCATCACTATGT 0.413000 25 57 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61498587 61498587 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:61498587G>A ENST00000424789.2 + 25 5248 c.5244G>A c.(5242-5244)tcG>tcA p.S1748S TANC2_ENST00000389520.4_Silent_p.S1758S|RP11-269G24.3_ENST00000583552.1_RNA NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1748 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CTGATGTGTCGCATTTAATCA 0.527000 4 263 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8374596 8374596 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:8374596G>C ENST00000538603.1 - 7 1775 c.1217C>G c.(1216-1218)tCc>tGc p.S406C FAM90A1_ENST00000307435.6_Missense_Mutation_p.S406C NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 406 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) CAGCAGGCTGGAGCTCCAGCG 0.622000 19 57 0 0 1 0 0 KDM7A 80853 broad.mit.edu 37 7 139801781 139801781 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:139801781G>C ENST00000397560.2 - 12 1705 c.1608C>G c.(1606-1608)ctC>ctG p.L536L JHDM1D_ENST00000006967.5_Silent_p.L536L NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 536 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) CTAATCTTTTGAGGACCTCCC 0.413000 69 167 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14804398 14804398 + Silent SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:14804398C>A ENST00000261170.3 - 15 1789 c.1653G>T c.(1651-1653)gtG>gtT p.V551V NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 551 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TATCAAGTTTCACTGTGCCGT 0.403000 39 86 1.47197e-15 1.52374e-15 1 1 0 TROVE2 6738 broad.mit.edu 37 1 193050546 193050546 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:193050546C>G ENST00000432079.1 + 5 882 c.314C>G c.(313-315)tCt>tGt p.S105C TROVE2_ENST00000400968.2_Missense_Mutation_p.S380C|TROVE2_ENST00000367446.3_Missense_Mutation_p.S380C|TROVE2_ENST00000416058.2_Missense_Mutation_p.S105C|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367443.1_Missense_Mutation_p.S380C|TROVE2_ENST00000367445.3_Missense_Mutation_p.S380C|TROVE2_ENST00000367441.1_Missense_Mutation_p.S380C|TROVE2_ENST00000367444.3_Missense_Mutation_p.S380C P10155 RO60_HUMAN TROVE domain family, member 2 380 TROVE. transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex protein binding|RNA binding biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1) 21 GTCAGTGCTTCTATGAACCAA 0.363000 47 54 0 0 1 0 0 SLC29A4 222962 broad.mit.edu 37 7 5336708 5336708 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:5336708G>A ENST00000396872.3 + 7 922 c.761G>A c.(760-762)cGc>cAc p.R254H SLC29A4_ENST00000406453.3_Missense_Mutation_p.R240H|SLC29A4_ENST00000297195.4_Missense_Mutation_p.R254H Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) TTAGTGCGGCGCAGCCGCTTC 0.662000 28 60 0 0 1 0 0 SKOR1 390598 broad.mit.edu 37 15 68126153 68126153 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:68126153C>G ENST00000380035.2 + 9 2935 c.2877C>G c.(2875-2877)ttC>ttG p.F959L SKOR1_ENST00000554054.1_Missense_Mutation_p.F931L|RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000341418.5_Missense_Mutation_p.F862L|SKOR1_ENST00000389002.1_Missense_Mutation_p.F915L|SKOR1_ENST00000554240.1_Missense_Mutation_p.F920L P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 959 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 ACTGCTCCTTCAAGCCACCGC 0.657000 OREG0023216 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 65 0 0 1 0 0 EIF3K 27335 broad.mit.edu 37 19 39116716 39116716 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:39116716G>C ENST00000545173.2 + 4 404 c.328G>C c.(328-330)Gag>Cag p.E110Q EIF3K_ENST00000592558.1_Missense_Mutation_p.E110Q|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000593149.1_Missense_Mutation_p.E23Q|EIF3K_ENST00000588934.1_Missense_Mutation_p.E110Q|EIF3K_ENST00000248342.4_Missense_Mutation_p.E110Q|EIF3K_ENST00000538434.1_Missense_Mutation_p.E23Q Q9UBQ5 EIF3K_HUMAN eukaryotic translation initiation factor 3, subunit K 110 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex|nucleus protein binding|ribosome binding|translation initiation factor activity EIF3K/CYP39A1(2) central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGACCTGCTGGAGACCTGCCA 0.567000 114 160 0 0 1 0 0 STXBP5 134957 broad.mit.edu 37 6 147636838 147636838 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:147636838C>T ENST00000367481.3 + 15 1698 c.1590C>T c.(1588-1590)ttC>ttT p.F530F STXBP5_ENST00000179882.6_Silent_p.F201F|STXBP5_ENST00000367480.3_Silent_p.F530F|STXBP5_ENST00000321680.6_Silent_p.F530F NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 530 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TTTATAGATTCAGCAAGCAGG 0.368000 47 76 0 0 1 0 0 TRIM27 5987 broad.mit.edu 37 6 28879489 28879489 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:28879489C>T ENST00000377199.3 - 4 1110 c.754G>A c.(754-756)Ggg>Agg p.G252R TRIM27_ENST00000498117.1_5'UTR|TRIM27_ENST00000377194.3_Missense_Mutation_p.G252R NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 252 cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding p.G252L(1) endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 AATGTGTCCCCAATGTCCTGC 0.373000 T RET papillary thyroid 33 71 0 0 1 0 0 CYP4F8 11283 broad.mit.edu 37 19 15740229 15740229 + RNA SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:15740229C>T ENST00000441682.2 + 0 1685 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 ACTACCTTTTCAGATTTCCGG 0.602000 3 9 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 4 106 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149508800 149508800 + RNA SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:149508800C>T ENST00000378016.2 + 0 9539 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGGCCTTGTGCGGAGGGTAAG 0.642000 43 81 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233344291 233344291 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:233344291G>C ENST00000258229.9 - 13 3070 c.2836C>G c.(2836-2838)Cta>Gta p.L946V PCNXL2_ENST00000430153.1_Missense_Mutation_p.L245V|PCNXL2_ENST00000488780.2_Missense_Mutation_p.L79V NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GCTGATTGTAGAAACACTGGA 0.478000 13 49 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28654728 28654728 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr18:28654728G>A ENST00000280904.6 - 12 2252 c.1809C>T c.(1807-1809)atC>atT p.I603I DSC2_ENST00000251081.6_Silent_p.I603I NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 603 Cadherin 5. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GTGGGCCATGGATAGGCTCAT 0.413000 36 58 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112524315 112524315 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:112524315C>T ENST00000369697.1 - 1 1103 c.1034G>A c.(1033-1035)gGc>gAc p.G345D KCND3_ENST00000302127.4_Missense_Mutation_p.G345D|KCND3_ENST00000315987.2_Missense_Mutation_p.G345D Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 345 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GGCCGAGGAGCCCTTCTCGGC 0.527000 46 33 0 0 1 0 0 TPSAB1 7177 broad.mit.edu 37 16 1291638 1291638 + Nonsense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr16:1291638C>G ENST00000461509.2 + 3 652 c.458C>G c.(457-459)tCa>tGa p.S153* TPSAB1_ENST00000338844.3_Nonsense_Mutation_p.S146* P20231 TRYB2_HUMAN tryptase alpha/beta 1 146 Peptidase S1. proteolysis extracellular region protein binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) CCCCCTGCCTCAGAGACCTTC 0.662000 12 17 0 0 1 0 0 C10orf118 55088 broad.mit.edu 37 10 115922804 115922804 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:115922804C>G ENST00000369287.3 - 2 490 c.224G>C c.(223-225)gGa>gCa p.G75A C10orf118_ENST00000369285.3_Missense_Mutation_p.G75A|C10orf118_ENST00000369286.1_Missense_Mutation_p.G75A NM_018017.2 NP_060487.2 Q7Z3E2 CJ118_HUMAN chromosome 10 open reading frame 118 75 GGG -> IRH (in Ref. 3; AAM44457). NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2) 24 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0161)|all cancers(201;0.0397) ATCCTCACCTCCACCATGATC 0.333000 57 38 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176675521 176675521 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:176675521G>C ENST00000367662.3 + 10 4556 c.3392G>C c.(3391-3393)gGa>gCa p.G1131A NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1131 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGTGATGATGGAGACCTTGTG 0.403000 7 41 0 0 1 0 0 PLTP 5360 broad.mit.edu 37 20 44540126 44540126 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr20:44540126G>A ENST00000542937.1 - 1 560 c.26C>T c.(25-27)tCc>tTc p.S9F PLTP_ENST00000477313.1_5'UTR|PLTP_ENST00000354050.4_Intron|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000372431.3_Intron P55058 PLTP_HUMAN phospholipid transfer protein 0 cellular lipid metabolic process|lipid transport extracellular region lipid binding endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1) 21 Myeloproliferative disorder(115;0.0122) GGGGTCGCAGGAGTTATCTGA 0.607000 20 27 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91667747 91667747 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:91667747G>C ENST00000359028.2 + 18 4614 c.4389G>C c.(4387-4389)atG>atC p.M1463I AKAP9_ENST00000356239.3_Missense_Mutation_p.M1451I|AKAP9_ENST00000358100.2_Missense_Mutation_p.M1463I Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1463 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTGTGTCAATGAGTATAGCAT 0.318000 T BRAF papillary thyroid 21 48 0 0 1 0 0 ZNF667 63934 broad.mit.edu 37 19 56953763 56953763 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:56953763C>T ENST00000504904.3 - 7 1320 c.601G>A c.(601-603)Gaa>Aaa p.E201K ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.E201K|ZNF667_ENST00000342634.3_Missense_Mutation_p.E329K Q5HYK9 ZN667_HUMAN zinc finger protein 667 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) TTATTGCATTCATGGCTTTTC 0.383000 69 138 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 6 77 0 0 1 0 0 WTAP 9589 broad.mit.edu 37 6 160163119 160163119 + Splice_Site SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:160163119G>C ENST00000358372.4 + 4 1843 c.e4-1 WTAP_ENST00000337387.4_Splice_Site|SOD2_ENST00000546087.1_Intron NM_001270531.1|NM_004906.4 NP_001257460.1|NP_004897.2 Q15007 FL2D_HUMAN Wilms tumor 1 associated protein cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 18 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) TTTTTTATTAGATGGAAACAA 0.289000 31 65 0 0 1 0 0 SETD1A 9739 broad.mit.edu 37 16 30977380 30977380 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr16:30977380C>T ENST00000262519.8 + 8 2864 c.2178C>T c.(2176-2178)taC>taT p.Y726Y NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 726 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 AGGCAGCCTACGGCTTGCCGT 0.677000 43 37 0 0 1 0 0 SFTPA2 729238 broad.mit.edu 37 10 81319100 81319100 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:81319100C>G ENST00000372325.2 - 3 224 c.140G>C c.(139-141)aGa>aCa p.R47T SFTPA2_ENST00000372327.5_Missense_Mutation_p.R47T NM_001098668.2 NP_001092138.1 Q8IWL1 SFPA2_HUMAN surfactant protein A2 47 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) GACACCATCTCTCCCGTCCCT 0.627000 Pulmonary Fibrosis, Idiopathic 34 112 0 0 1 0 0 PLA2G2F 64600 broad.mit.edu 37 1 20474750 20474750 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:20474750C>T ENST00000375102.3 + 5 594 c.492C>T c.(490-492)ctC>ctT p.L164L NM_022819.3 NP_073730.3 Q9BZM2 PA2GF_HUMAN phospholipase A2, group IIF 121 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) TTCTGTGCCTCATGAACCAGA 0.562000 59 67 0 0 1 0 0 GMEB1 10691 broad.mit.edu 37 1 29037087 29037087 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:29037087G>A ENST00000373816.1 + 9 1062 c.924G>A c.(922-924)aaG>aaA p.K308K GMEB1_ENST00000361872.4_Silent_p.K308K|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000294409.2_Silent_p.K318K NM_024482.2 NP_077808.1 Q9Y692 GMEB1_HUMAN glucocorticoid modulatory element binding protein 1 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|metal ion binding|transcription coactivator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4) 11 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) ACACAGTCAAGAAGGTTTTAG 0.393000 70 72 0 0 1 0 0 FAM188A 80013 broad.mit.edu 37 10 15821080 15821080 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:15821080C>T ENST00000378036.1 - 6 1540 c.364G>A c.(364-366)Gat>Aat p.D122N FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000277632.3_Missense_Mutation_p.D417N Q9H8M7 F188A_HUMAN family with sequence similarity 188, member A 417 apoptosis nucleus calcium ion binding breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 22 GGAGTGTCATCTGTCTGTAGC 0.428000 22 52 0 0 1 0 0 LRRC55 219527 broad.mit.edu 37 11 56954784 56954784 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:56954784G>A ENST00000497933.1 + 2 1003 c.856G>A c.(856-858)Gag>Aag p.E286K NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 256 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 CTCACTCACTGAGGAGAGCTT 0.587000 55 99 0 0 1 0 0 SENP6 26054 broad.mit.edu 37 6 76412774 76412774 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:76412774C>G ENST00000370014.3 + 19 3321 c.2702C>G c.(2701-2703)tCc>tGc p.S901C SENP6_ENST00000447266.2_Missense_Mutation_p.S901C|SENP6_ENST00000370010.2_Missense_Mutation_p.S894C|SENP6_ENST00000541192.1_Intron NM_001100409.1 NP_001093879.1 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 901 Protease. proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) AGTTTAAGTTCCACACATCAT 0.308000 73 125 0 0 1 0 0 TMC6 11322 broad.mit.edu 37 17 76120740 76120740 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:76120740G>C ENST00000590602.1 - 8 915 c.756C>G c.(754-756)ctC>ctG p.L252L TMC6_ENST00000306591.7_Silent_p.L252L|TMC6_ENST00000392467.3_Silent_p.L252L|TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000322914.3_Silent_p.L252L|TMC6_ENST00000589553.1_Silent_p.L25L Q7Z403 TMC6_HUMAN transmembrane channel-like 6 252 endoplasmic reticulum membrane|integral to membrane NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 14 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GCAGGGTCTTGAGAAAGAGGA 0.677000 15 26 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5798659 5798659 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:5798659C>T ENST00000328090.5 + 16 7315 c.6690C>T c.(6688-6690)atC>atT p.I2230I NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 2230 ATACACTAATCATCATCATCA 0.373000 32 74 0 0 1 0 0 PARP1 142 broad.mit.edu 37 1 226558164 226558164 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:226558164C>T ENST00000366794.5 - 15 2268 c.2125G>A c.(2125-2127)Gca>Aca p.A709T PARP1_ENST00000490921.1_5'UTR NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 709 PARP alpha-helical. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) ATGGAGTATGCGGCCTGGATC 0.597000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 4 152 0 0 1 0 0 ZNF614 80110 broad.mit.edu 37 19 52519104 52519104 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:52519104G>A ENST00000270649.6 - 5 2291 c.1747C>T c.(1747-1749)Cct>Tct p.P583S ZNF614_ENST00000356322.6_Intron NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 583 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) CACTTATAAGGAAGGAGCTGT 0.398000 65 126 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32826051 32826051 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr13:32826051C>G ENST00000380250.3 + 50 7703 c.7207C>G c.(7207-7209)Ctg>Gtg p.L2403V NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2403 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TGTCCTTTCTCTGTGTGGCCA 0.383000 64 57 0 0 1 0 0 GFRA2 2675 broad.mit.edu 37 8 21552023 21552023 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:21552023C>T ENST00000524240.1 - 8 1875 c.1225G>A c.(1225-1227)Ggg>Agg p.G409R GFRA2_ENST00000400782.4_Missense_Mutation_p.G304R|GFRA2_ENST00000517328.1_Missense_Mutation_p.G409R|GFRA2_ENST00000518077.1_Missense_Mutation_p.G276R NM_001495.4 NP_001486.4 O00451 GFRA2_HUMAN GDNF family receptor alpha 2 409 anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1) 7 Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) GCCTTCAGCCCCTGCTCCTGC 0.607000 3 10 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176562542 176562542 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:176562542C>T ENST00000439151.2 + 2 483 c.438C>T c.(436-438)atC>atT p.I146I NSD1_ENST00000354179.4_Intron|NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Silent_p.I146I|NSD1_ENST00000511258.1_Intron NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 146 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CAAAGACTATCAAGAATGGCT 0.443000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 60 91 0 0 1 0 0 RNF5 6048 broad.mit.edu 37 6 32151075 32151075 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:32151075C>T ENST00000427134.2 + 6 470 c.455C>T c.(454-456)tCt>tTt p.S152F AGER_ENST00000438221.2_Missense_Mutation_p.R149K|AGER_ENST00000375076.4_Intron|AGER_ENST00000375055.2_Intron|AGER_ENST00000375065.5_Intron|AGER_ENST00000375069.3_Intron|AGER_ENST00000375067.3_Intron|AGER_ENST00000375070.3_Intron Q99942 RNF5_HUMAN ring finger protein 5, E3 ubiquitin protein ligase 0 ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|lung(7)|urinary_tract(2) 10 GGGCCGTTTTCTACTTCTCCT 0.512000 25 44 0 0 1 0 0 BMP6 654 broad.mit.edu 37 6 7727541 7727541 + Missense_Mutation SNP A A T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:7727541A>T ENST00000283147.6 + 1 512 c.353A>T c.(352-354)cAg>cTg p.Q118L NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 118 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity p.Q118L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) cagcagcagcagcTGCCTCGC 0.731000 3 26 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204840 9204840 + Missense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:9204840G>T ENST00000429566.3 + 1 986 c.920G>T c.(919-921)aGa>aTa p.R307I NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CTGGTCAACAGAAAGATCACC 0.502000 23 49 7.41877e-09 7.54131e-09 1 1 0 REV3L 5980 broad.mit.edu 37 6 111694547 111694547 + Nonsense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:111694547G>A ENST00000435970.1 - 15 5593 c.4777C>T c.(4777-4779)Cag>Tag p.Q1593* REV3L_ENST00000368805.1_Nonsense_Mutation_p.Q1671*|REV3L_ENST00000368802.3_Nonsense_Mutation_p.Q1671*|REV3L_ENST00000358835.3_Nonsense_Mutation_p.Q1671* O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1671 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) ggcaaattctGATCAGCTGGG 0.343000 DNA polymerases (catalytic subunits) 42 80 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153580035 153580035 + Nonsense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:153580035C>A ENST00000422373.1 - 42 7161 c.6913G>T c.(6913-6915)Gag>Tag p.E2305* FLNA_ENST00000369856.3_Nonsense_Mutation_p.E446*|FLNA_ENST00000360319.4_Nonsense_Mutation_p.E2305*|FLNA_ENST00000344736.4_Nonsense_Mutation_p.E2273*|FLNA_ENST00000369850.3_Nonsense_Mutation_p.E2313* NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 2313 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding p.E2313*(1) breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ATGTGTTCCTCGTTGAACTTG 0.602000 23 11 2.48779e-11 2.54416e-11 1 1 0 DOCK2 1794 broad.mit.edu 37 5 169143252 169143252 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:169143252C>T ENST00000256935.8 + 20 2057 c.1977C>T c.(1975-1977)atC>atT p.I659I DOCK2_ENST00000520908.1_Silent_p.I151I|DOCK2_ENST00000540750.1_5'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 659 DHR-1. 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) TCTTCAACATCATGATGGAGC 0.418000 33 85 0 0 1 0 0 BORA 79866 broad.mit.edu 37 13 73329354 73329354 + Nonstop_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr13:73329354G>C ENST00000390667.5 + 12 1777 c.1680G>C c.(1678-1680)taG>taC p.*560Y BORA_ENST00000377815.3_Nonstop_Mutation_p.*490Y NM_024808.2 NP_079084.2 Q6PGQ7 BORA_HUMAN bora, aurora kinase A activator 0 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding GCAGTCCATAGAATGCCTCTG 0.408000 37 90 0 0 1 0 0 SNORD3A 780851 broad.mit.edu 37 17 19091383 19091383 + RNA SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:19091383G>A ENST00000365494.1 + 0 55 aagtttctctgaacgtgtaga 0.507000 46 352 0 0 1 0 0 SLC16A7 9194 broad.mit.edu 37 12 60165093 60165093 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:60165093C>A ENST00000261187.4 + 3 475 c.311C>A c.(310-312)tCc>tAc p.S104Y SLC16A7_ENST00000552432.1_Missense_Mutation_p.S104Y|SLC16A7_ENST00000547379.1_Missense_Mutation_p.S104Y|SLC16A7_ENST00000543448.1_Missense_Mutation_p.S5Y|SLC16A7_ENST00000552024.1_Missense_Mutation_p.S104Y NM_004731.4 NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 104 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) GTGTTGGCCTCCTTTAGTAGC 0.443000 105 185 1.12856e-70 1.22051e-70 1 1 0 F11R 50848 broad.mit.edu 37 1 160970508 160970508 + Missense_Mutation SNP G G A rs116727809 byFrequency TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:160970508G>A ENST00000368026.6 - 4 575 c.301C>T c.(301-303)Cgg>Tgg p.R101W F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR|F11R_ENST00000537746.1_Intron NM_016946.4 NP_058642.1 Q9Y624 JAM1_HUMAN F11 receptor 101 Ig-like V-type 1. blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) GTGTCTTCCCGTGTCACGGAC 0.542000 31 46 0 0 1 0 0 TRIB2 28951 broad.mit.edu 37 2 12858571 12858571 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:12858571G>A ENST00000155926.4 + 1 1557 c.138G>A c.(136-138)ccG>ccA p.P46P TRIB2_ENST00000381465.2_Intron|TRIB2_ENST00000405331.3_Silent_p.P46P NM_021643.3 NP_067675.1 Q92519 TRIB2_HUMAN tribbles pseudokinase 2 46 negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TCGGCTCCCCGAGCCCGCCCG 0.552000 OREG0014450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 112 111 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179641878 179641878 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:179641878G>A ENST00000589042.1 - 27 5036 c.4812C>T c.(4810-4812)atC>atT p.I1604I TTN_ENST00000342175.6_Silent_p.I1558I|TTN_ENST00000342992.6_Silent_p.I1604I|TTN_ENST00000460472.2_Silent_p.I1558I|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Silent_p.I1604I|TTN_ENST00000591111.1_Silent_p.I1604I|TTN_ENST00000359218.5_Silent_p.I1558I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1340 Ig-like 7. 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) ATACTTACCTGATTTTGGGAT 0.378000 64 133 0 0 1 0 0 ZNF484 83744 broad.mit.edu 37 9 95618147 95618147 + Nonsense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr9:95618147C>A ENST00000395505.2 - 2 165 c.73G>T c.(73-75)Gaa>Taa p.E25* ZNF484_ENST00000395506.3_Nonsense_Mutation_p.E63*|ZNF484_ENST00000375495.3_Nonsense_Mutation_p.E61*|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Nonsense_Mutation_p.E25* NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 61 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 TCTTCTTGTTCCAAGCTGAAG 0.468000 82 108 4.64247e-43 4.98091e-43 1 1 0 ITGB3BP 23421 broad.mit.edu 37 1 63920103 63920103 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:63920103G>C ENST00000371092.3 - 7 552 c.492C>G c.(490-492)atC>atG p.I164M ITGB3BP_ENST00000271002.10_Missense_Mutation_p.I125M|ITGB3BP_ENST00000283568.8_Missense_Mutation_p.I125M|ITGB3BP_ENST00000461681.1_5'UTR NM_001206739.1 NP_001193668.1 Q13352 CENPR_HUMAN integrin beta 3 binding protein (beta3-endonexin) 125 apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm protein C-terminus binding|signal transducer activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 ATGCACAGGAGATTCCAATGA 0.338000 13 60 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633746 70633746 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:70633746G>C ENST00000381269.2 - 2 2147 c.1394C>G c.(1393-1395)tCc>tGc p.S465C SLC8A3_ENST00000357887.3_Missense_Mutation_p.S465C|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S465C|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S465C|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S465C NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 465 Calx-beta 1. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TATGCCCACGGAGAACTCCTT 0.512000 94 154 0 0 1 0 0 LRCH3 84859 broad.mit.edu 37 3 197562663 197562663 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:197562663G>A ENST00000438796.2 + 9 1265 c.1221G>A c.(1219-1221)gcG>gcA p.A407A LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000536618.1_Silent_p.A2A|LRCH3_ENST00000334859.4_Silent_p.A407A|LRCH3_ENST00000425562.2_Silent_p.A407A Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 407 extracellular region breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) AGTTTATGGCGTATATTGAAC 0.438000 4 232 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64974483 64974483 + Nonsense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:64974483C>A ENST00000399262.2 - 8 1662 c.1444G>T c.(1444-1446)Gaa>Taa p.E482* JMJD1C_ENST00000399251.1_Nonsense_Mutation_p.E263*|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.E300*|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.E263* NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 482 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) ATATTGCATTCCTGAGGAAGT 0.368000 82 136 3.76054e-38 4.01559e-38 1 1 0 ARHGEF18 23370 broad.mit.edu 37 19 7518556 7518556 + Missense_Mutation SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:7518556C>A ENST00000359920.6 + 7 1748 c.1495C>A c.(1495-1497)Ctg>Atg p.L499M CTD-2207O23.3_ENST00000593531.1_Silent_p.T456T|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.L341M NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 499 PH. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) GCAGCTCCACCTGGAGGGCAT 0.582000 31 71 6.00712e-18 6.26629e-18 1 1 0 FGA 2243 broad.mit.edu 37 4 155505852 155505852 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr4:155505852G>C ENST00000302053.3 - 6 2103 c.2025C>G c.(2023-2025)atC>atG p.I675M NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 675 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TTCTTTGCTGGATCAAAAGCC 0.458000 31 64 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27014225 27014225 + Silent SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:27014225C>G ENST00000314616.6 + 22 3103 c.2820C>G c.(2818-2820)ctC>ctG p.L940L SUPT6H_ENST00000347486.4_Silent_p.L940L NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 940 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCCTGTGTCTCAAGTTTCACC 0.567000 67 106 0 0 1 0 0 CTAGE9 643854 broad.mit.edu 37 6 132031178 132031178 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:132031178G>C ENST00000314099.8 - 1 1028 c.980C>G c.(979-981)tCt>tGt p.S327C ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron NM_001145659.1|NM_001278507.1 NP_001139131.1|NP_001265436.1 A4FU28 CTGE9_HUMAN CTAGE family, member 9 327 integral to membrane endometrium(1)|lung(1) 2 GCTTTTTAAAGAAACATTTAA 0.338000 14 47 0 0 1 0 0 UQCRC1 7384 broad.mit.edu 37 3 48642088 48642088 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:48642088C>T ENST00000203407.5 - 4 839 c.423G>A c.(421-423)ccG>ccA p.P141P NM_003365.2 NP_003356.2 P31930 QCR1_HUMAN ubiquinol-cytochrome c reductase core protein I 141 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) TGTTACCTTTCGGCAGATCCT 0.577000 23 32 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 1993960 1993960 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:1993960C>G ENST00000382722.5 - 11 1608 c.1246G>C c.(1246-1248)Gag>Cag p.E416Q CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E352Q|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E332Q|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E416Q|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E352Q|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E416Q NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 416 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) TTATACTTCTCAAACACCGGC 0.577000 9 33 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140256594 140256594 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:140256594G>A ENST00000398631.2 + 1 1537 c.1537G>A c.(1537-1539)Gag>Aag p.E513K PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron NM_018903.2|NM_031864.2 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGCACGCGGAGAGCGGCAA 0.701000 70 124 0 0 1 0 0 HNF1A 6927 broad.mit.edu 37 12 121431453 121431453 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:121431453G>C ENST00000257555.6 + 3 883 c.657G>C c.(655-657)gaG>gaC p.E219D HNF1A_ENST00000402929.1_Missense_Mutation_p.E219D|HNF1A_ENST00000543427.1_Missense_Mutation_p.E102D|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Missense_Mutation_p.E219D|HNF1A_ENST00000541395.1_Missense_Mutation_p.E219D|HNF1A_ENST00000544413.1_Missense_Mutation_p.E219D P20823 HNF1A_HUMAN HNF1 homeobox A 219 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGGCCTATGAGAGGCAGAAGA 0.582000 Hepatic Adenoma, Familial Clustering of 11 38 0 0 1 0 0 TRIM32 22954 broad.mit.edu 37 9 119460715 119460715 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr9:119460715G>A ENST00000450136.1 + 2 855 c.694G>A c.(694-696)Gag>Aag p.E232K ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.E232K|ASTN2_ENST00000373996.3_Intron NM_001099679.1|NM_012210.3 NP_001093149.1|NP_036342.2 Q13049 TRI32_HUMAN tripartite motif containing 32 232 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26 TAACATTGCAGAGGTGCAGGC 0.527000 25 38 0 0 1 0 0 GALNT15 117248 broad.mit.edu 37 3 16254234 16254234 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:16254234C>T ENST00000339732.5 + 6 1859 c.1356C>T c.(1354-1356)ttC>ttT p.F452F GALNT15_ENST00000437509.1_Silent_p.F452F NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 AAGAAACCTTCTACAAGCATA 0.572000 40 66 0 0 1 0 0 ACOXL 55289 broad.mit.edu 37 2 111556604 111556604 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:111556604C>T ENST00000389811.4 + 7 698 c.474C>T c.(472-474)ttC>ttT p.F158F ACOXL_ENST00000439055.1_Silent_p.F158F|ACOXL_ENST00000340561.4_Silent_p.F158F Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 158 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 CCCACTGTTTCATCGTTCCTG 0.468000 66 111 0 0 1 0 0 EXO5 64789 broad.mit.edu 37 1 40981299 40981299 + Silent SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:40981299C>G ENST00000372703.1 + 2 2157 c.1083C>G c.(1081-1083)ctC>ctG p.L361L EXO5_ENST00000358527.2_Silent_p.L361L|EXO5_ENST00000296380.4_Silent_p.L361L exonuclease 5 GTGGAGTGCTCAGCTCTACAC 0.512000 10 48 0 0 1 0 0 STAT4 6775 broad.mit.edu 37 2 191919232 191919232 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:191919232C>G ENST00000392320.2 - 14 1549 c.1235G>C c.(1234-1236)gGa>gCa p.G412A STAT4_ENST00000358470.4_Missense_Mutation_p.G412A NM_003151.3 NP_003142.1 Q14765 STAT4_HUMAN signal transducer and activator of transcription 4 412 JAK-STAT cascade cytoplasm|nucleus calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204) TCCTTTACCTCCAGCACTGGA 0.323000 44 112 0 0 1 0 0 UBXN7 26043 broad.mit.edu 37 3 196089367 196089367 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:196089367C>T ENST00000296328.4 - 9 1100 c.1026G>A c.(1024-1026)gaG>gaA p.E342E UBXN7_ENST00000428095.1_Silent_p.E180E|UBXN7_ENST00000535858.1_Silent_p.E194E NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 342 Poly-Glu. protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 TGGCAAGATTCTCTACCTCTT 0.463000 70 144 0 0 1 0 0 FBXO28 23219 broad.mit.edu 37 1 224321828 224321828 + Missense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:224321828G>T ENST00000366862.5 + 3 473 c.430G>T c.(430-432)Gct>Tct p.A144S FBXO28_ENST00000424254.2_Missense_Mutation_p.A144S NM_015176.3 NP_055991.1 Q9NVF7 FBX28_HUMAN F-box protein 28 144 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1) 10 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) AGACATTCTTGCTGCTGTTGA 0.348000 20 17 2.94398e-08 2.98812e-08 1 1 0 SPTB 6710 broad.mit.edu 37 14 65233466 65233466 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:65233466G>A ENST00000389722.3 - 31 6376 c.6323C>T c.(6322-6324)gCg>gTg p.A2108V SPTB_ENST00000389721.5_Missense_Mutation_p.A2108V|SPTB_ENST00000556626.1_Missense_Mutation_p.A2108V|SPTB_ENST00000389720.3_Silent_p.C2091C|SPTB_ENST00000542895.1_Missense_Mutation_p.A2108V NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 2108 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTCGGTGGCCGCATGGTGGGA 0.592000 4 227 0 0 1 0 0 ANXA7 310 broad.mit.edu 37 10 75158007 75158007 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:75158007C>T ENST00000372921.5 - 3 247 c.191G>A c.(190-192)gGa>gAa p.G64E ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_5'UTR NM_001156.3 NP_001147.1 P20073 ANXA7_HUMAN annexin A7 Repeat-rich region. calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 26 Prostate(51;0.0119) TGGATAACCTCCAGGCGCAGG 0.577000 18 23 0 0 1 0 0 NME9 347736 broad.mit.edu 37 3 138037058 138037058 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:138037058C>T ENST00000383180.2 - 6 370 c.133G>A c.(133-135)Gag>Aag p.E45K NME9_ENST00000484930.1_Intron|NME9_ENST00000536478.1_Missense_Mutation_p.E45K|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Missense_Mutation_p.E45K|NME9_ENST00000333911.3_Missense_Mutation_p.E67K NM_178130.2 NP_835231.1 Q86XW9 TXND6_HUMAN NME/NM23 family member 9 67 Thioredoxin. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity CGATCTGCCTCTGCCTAAAGA 0.488000 30 44 0 0 1 0 0 TPBG 7162 broad.mit.edu 37 6 83074928 83074928 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:83074928G>A ENST00000369750.3 + 2 867 c.250G>A c.(250-252)Gag>Aag p.E84K TPBG_ENST00000535040.1_Missense_Mutation_p.E84K|TPBG_ENST00000543496.1_Missense_Mutation_p.E84K Q13641 TPBG_HUMAN trophoblast glycoprotein 84 LRRNT. cell adhesion integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) CAATCTGACCGAGGTGCCCAC 0.726000 20 25 0 0 1 0 0 TBC1D22B 55633 broad.mit.edu 37 6 37247217 37247217 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:37247217C>G ENST00000373491.3 + 3 397 c.251C>G c.(250-252)tCt>tGt p.S84C NM_017772.2 NP_060242.2 Q9NU19 TB22B_HUMAN TBC1 domain family, member 22B 84 intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1) 15 OV - Ovarian serous cystadenocarcinoma(102;0.241) TCCTCACCTTCTTTCCAAACT 0.463000 59 103 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83843985 83843985 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:83843985C>T ENST00000349129.2 + 19 3109 c.2849C>T c.(2848-2850)tCt>tTt p.S950F DOPEY1_ENST00000369739.3_Missense_Mutation_p.S941F|DOPEY1_ENST00000237163.5_Missense_Mutation_p.S931F NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 950 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AAATCTTCATCTTTTGTACGT 0.368000 26 48 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7789816 7789816 + Missense_Mutation SNP A A G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:7789816A>G ENST00000338316.4 + 20 2620 c.2531A>G c.(2530-2532)gAg>gGg p.E844G ADCY2_ENST00000537121.1_Missense_Mutation_p.E664G NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 844 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GAGCGGGAGGAGATAGAGACC 0.483000 61 75 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61987206 61987206 + Silent SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr13:61987206G>C ENST00000409186.1 - 5 3131 c.1026C>G c.(1024-1026)gtC>gtG p.V342V PCDH20_ENST00000409204.4_Silent_p.V342V Q8N6Y1 PCD20_HUMAN protocadherin 20 315 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) CCACAGCCTGGACAGCTGCAA 0.428000 77 98 0 0 1 0 0 TNKS 8658 broad.mit.edu 37 8 9413781 9413781 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:9413781C>T ENST00000310430.6 + 1 358 c.332C>T c.(331-333)tCa>tTa p.S111L RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000520408.1_Missense_Mutation_p.S111L|TNKS_ENST00000522110.1_Missense_Mutation_p.S111L NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 111 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) GTTTCTACTTCATCTGCCGCT 0.617000 84 71 0 0 1 0 0 FCRL6 343413 broad.mit.edu 37 1 159778937 159778937 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:159778937G>C ENST00000321935.6 + 5 613 c.527G>C c.(526-528)gGa>gCa p.G176A FCRL6_ENST00000339348.5_Missense_Mutation_p.G169A|FCRL6_ENST00000392235.3_Intron|FCRL6_ENST00000368106.3_Missense_Mutation_p.G169A NM_001284217.1 NP_001271146.1 Q6DN72 FCRL6_HUMAN Fc receptor-like 6 169 Ig-like C2-type 2. integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) TGCATCCCGGGAGCCAAGGAG 0.637000 13 91 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107591232 107591232 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr9:107591232G>A ENST00000374736.3 - 15 2474 c.2080C>T c.(2080-2082)Ctt>Ttt p.L694F ABCA1_ENST00000494467.1_5'UTR NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 694 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GCGCTCACAAGAAGAGGAATG 0.542000 25 42 0 0 1 0 0 DPY19L4 286148 broad.mit.edu 37 8 95774052 95774052 + Missense_Mutation SNP A A T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:95774052A>T ENST00000414645.2 + 8 959 c.860A>T c.(859-861)cAa>cTa p.Q287L NM_181787.2 NP_861452.2 Q7Z388 D19L4_HUMAN dpy-19-like 4 (C. elegans) 287 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) TCAGTGGAGCAAAGTGACAAG 0.338000 78 82 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52555955 52555955 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:52555955C>T ENST00000321725.6 + 58 6335 c.6259C>T c.(6259-6261)Cgt>Tgt p.R2087C NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2087 EGF-like 14. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) AGGGGATGGCCGTGTGTGTAC 0.642000 14 46 0 0 1 0 0 GNA15 2769 broad.mit.edu 37 19 3155896 3155896 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:3155896C>T ENST00000262958.3 + 5 948 c.690C>T c.(688-690)atC>atT p.I230I NM_002068.2 NP_002059.2 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), alpha 15 (Gq class) 230 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) TCGCCCTCATCTACCTGGCCT 0.602000 25 33 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39075595 39075595 + Missense_Mutation SNP C C T rs118192147 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:39075595C>T ENST00000355481.4 + 101 14775 c.14644C>T c.(14644-14646)Cac>Tac p.H4882Y RYR1_ENST00000360985.3_Missense_Mutation_p.H4882Y|RYR1_ENST00000359596.3_Missense_Mutation_p.H4887Y NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4887 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) TTACCTGTTTCACATGTACGT 0.582000 21 53 0 0 1 0 0 TRIM4 89122 broad.mit.edu 37 7 99506363 99506363 + Missense_Mutation SNP C C G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:99506363C>G ENST00000355947.2 - 4 769 c.640G>C c.(640-642)Gag>Cag p.E214Q TRIM4_ENST00000349062.2_Missense_Mutation_p.E188Q|TRIM4_ENST00000354241.5_Missense_Mutation_p.E188Q NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 214 protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) AACAGGTCCTCTTCTTCAACC 0.408000 46 108 0 0 1 0 0 PPP1R14D 54866 broad.mit.edu 37 15 41107939 41107939 + Missense_Mutation SNP G G A rs140774733 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:41107939G>A ENST00000427255.2 - 5 576 c.509C>T c.(508-510)tCa>tTa p.S170L PPP1R14D_ENST00000299174.5_Silent_p.L131L NM_001130143.1 NP_001123615.1 Q9NXH3 PP14D_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14D 0 regulation of phosphorylation cytoplasm protein phosphatase inhibitor activity breast(1)|large_intestine(2)|lung(2)|skin(1) 6 all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) TGAGTTGACTGAGCAGCTCAG 0.567000 17 21 0 0 1 0 0 MC5R 4161 broad.mit.edu 37 18 13826334 13826334 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr18:13826334C>T ENST00000324750.3 + 1 792 c.570C>T c.(568-570)ctC>ctT p.L190L NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 190 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 TCCTGTGCCTCATCTCCATGT 0.587000 291 466 0 0 1 0 0 RBBP6 5930 broad.mit.edu 37 16 24582458 24582458 + Silent SNP A A C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr16:24582458A>C ENST00000319715.4 + 18 4503 c.4071A>C c.(4069-4071)tcA>tcC p.S1357S RBBP6_ENST00000348022.2_Silent_p.S1323S|RBBP6_ENST00000381039.3_Silent_p.S517S NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1357 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) CAAAGCCATCAAATATAGTCA 0.353000 17 24 0 0 1 0 0 GFM1 85476 broad.mit.edu 37 3 158364638 158364638 + Silent SNP C C A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:158364638C>A ENST00000486715.1 + 4 831 c.474C>A c.(472-474)gtC>gtA p.V158V GFM1_ENST00000264263.5_Silent_p.V158V|GFM1_ENST00000478576.1_Silent_p.V158V NM_024996.5 NP_079272.4 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 158 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2) 22 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) CCATGACTGTCAATCGTCAGA 0.502000 33 57 1.56442e-22 1.63949e-22 1 1 0 TM4SF18 116441 broad.mit.edu 37 3 149040056 149040056 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:149040056G>A ENST00000296059.2 - 5 843 c.578C>T c.(577-579)tCa>tTa p.S193L RP11-206M11.7_ENST00000489011.1_RNA|TM4SF18_ENST00000470080.1_Missense_Mutation_p.S193L NM_138786.3 NP_620141.1 Q96CE8 T4S18_HUMAN transmembrane 4 L six family member 18 193 integral to membrane lung(1)|ovary(1)|prostate(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GAAGATCACTGAATAGCTTCC 0.423000 23 48 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 4 104 0 0 1 0 0 CLEC4D 338339 broad.mit.edu 37 12 8672821 8672821 + Splice_Site SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:8672821G>C ENST00000299665.2 + 5 577 c.e5-1 NM_080387.4 NP_525126.2 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D innate immune response integral to membrane sugar binding large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) TTTTTATGCAGAACTTTATTA 0.383000 30 39 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111604251 111604251 + Nonsense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:111604251G>T ENST00000431670.2 + 2 1738 c.1327G>T c.(1327-1329)Gag>Tag p.E443* PHLDB2_ENST00000477695.1_Nonsense_Mutation_p.E443*|PHLDB2_ENST00000481953.1_Nonsense_Mutation_p.E443*|PHLDB2_ENST00000478922.1_Nonsense_Mutation_p.E443*|PHLDB2_ENST00000412622.1_Nonsense_Mutation_p.E443*|PHLDB2_ENST00000393923.3_Nonsense_Mutation_p.E470*|PHLDB2_ENST00000393925.3_Nonsense_Mutation_p.E443* NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 443 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GCAGGAAATGGAGCGATTGGT 0.493000 23 47 3.08376e-08 3.12531e-08 1 1 0 SPRY2 10253 broad.mit.edu 37 13 80911179 80911179 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr13:80911179C>T ENST00000377102.1 - 2 1639 c.662G>A c.(661-663)tGt>tAt p.C221Y SPRY2_ENST00000540649.1_Missense_Mutation_p.C221Y|SPRY2_ENST00000377104.3_Missense_Mutation_p.C221Y O43597 SPY2_HUMAN sprouty homolog 2 (Drosophila) 221 Cys-rich.|SPR. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) ACCTTTCACACAGCATACACA 0.502000 40 80 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149484617 149484617 + RNA SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr7:149484617C>T ENST00000378016.2 + 0 3540 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCAGCCCCCTCTGCCCTGAGC 0.662000 9 13 0 0 1 0 0 NOP56 10528 broad.mit.edu 37 20 2638800 2638800 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr20:2638800G>A ENST00000329276.5 + 12 2161 c.1645G>A c.(1645-1647)Gag>Aag p.E549K NOP56_ENST00000492135.1_3'UTR NM_006392.3 NP_006383.2 O00567 NOP56_HUMAN NOP56 ribonucleoprotein 549 Lys-rich. rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 TGACCCTGAGGAGGCAGGCCA 0.532000 17 23 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48238598 48238598 + Silent SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr11:48238598C>T ENST00000309562.2 + 1 255 c.237C>T c.(235-237)ttC>ttT p.F79F NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 CCCCTAAATTCATCATAGACT 0.448000 90 178 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53570023 53570023 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:53570023C>T ENST00000025008.5 - 15 2889 c.2366G>A c.(2365-2367)gGa>gAa p.G789E RB1CC1_ENST00000435644.2_Missense_Mutation_p.G789E|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.G789E NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 789 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) AGTATGATCTCCAAAATCCTC 0.398000 67 87 0 0 1 0 0 MAP2K5 5607 broad.mit.edu 37 15 67923241 67923241 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr15:67923241G>A ENST00000178640.5 + 9 1188 c.561G>A c.(559-561)ccG>ccA p.P187P MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000395476.2_Silent_p.P187P|MAP2K5_ENST00000354498.5_Silent_p.P151P NM_145160.2 NP_660143.1 Q13163 MP2K5_HUMAN mitogen-activated protein kinase kinase 5 187 Protein kinase. nerve growth factor receptor signaling pathway ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1) 16 ATCATGTCCCGAGTGGGAAAA 0.338000 20 42 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32376282 32376282 + Splice_Site SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr13:32376282G>C ENST00000298386.2 + 18 2076 c.e18-1 RXFP2_ENST00000380314.1_Splice_Site NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TCCTTTTCCAGACACAATGAC 0.333000 27 53 0 0 1 0 0 TBCD 6904 broad.mit.edu 37 17 80758804 80758804 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr17:80758804G>A ENST00000355528.4 + 9 1012 c.882G>A c.(880-882)cgG>cgA p.R294R TBCD_ENST00000539345.2_Silent_p.R294R|TBCD_ENST00000397466.2_5'UTR NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 294 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CCCTGCTGCGGAAGCTGGGGG 0.627000 36 67 0 0 1 0 0 POTEM 641455 broad.mit.edu 37 14 20020049 20020049 + Missense_Mutation SNP T T C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr14:20020049T>C ENST00000551509.1 - 1 223 c.172A>G c.(172-174)Agg>Ggg p.R58G NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 58 endometrium(4)|kidney(1)|lung(4) 9 ATCTTGCTCCTGAGTGTCTTC 0.617000 23 258 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41791399 41791399 + Missense_Mutation SNP C C T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:41791399C>T ENST00000396930.3 - 18 4882 c.4339G>A c.(4339-4341)Gag>Aag p.E1447K KAT6A_ENST00000406337.1_Missense_Mutation_p.E1447K|KAT6A_ENST00000265713.2_Missense_Mutation_p.E1447K NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1447 histone H3 acetylation|myeloid cell differentiation|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 coactivator activity|transcription factor binding|zinc ion binding AGAGTTTCCTCACAGTCCTGG 0.517000 63 46 0 0 1 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755099 140755099 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr5:140755099G>A ENST00000517434.1 + 1 1449 c.1449G>A c.(1447-1449)caG>caA p.Q483Q PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGTGGACCAGAACGCCCAAG 0.577000 85 141 0 0 1 0 0 MFSD6 54842 broad.mit.edu 37 2 191301976 191301976 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:191301976G>A ENST00000392328.1 + 3 1545 c.1221G>A c.(1219-1221)gaG>gaA p.E407E MFSD6_ENST00000281416.7_Silent_p.E407E NM_017694.3 NP_060164.3 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 6 407 transmembrane transport integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1) 23 AAGAGGTGGAGATCCCGCAGG 0.502000 30 50 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104679621 104679621 + Missense_Mutation SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr10:104679621G>A ENST00000369878.4 + 1 1572 c.1384G>A c.(1384-1386)Gaa>Aaa p.E462K CNNM2_ENST00000369875.3_Missense_Mutation_p.E462K|CNNM2_ENST00000433628.2_Missense_Mutation_p.E462K NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 CBS 1. ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GATCACCGGCGAAGCCATCCT 0.577000 24 15 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196699053 196699053 + Missense_Mutation SNP G G T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr2:196699053G>T ENST00000312428.6 - 48 9077 c.8977C>A c.(8977-8979)Cct>Act p.P2993T NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2993 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TGACTTTGAGGATCTATCATC 0.393000 42 123 3.4345e-17 3.56619e-17 1 1 0 HLA-B 3106 broad.mit.edu 37 6 31324681 31324681 + Missense_Mutation SNP C C T rs137854653 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr6:31324681C>T ENST00000412585.2 - 2 155 c.127G>A c.(127-129)Gag>Aag p.E43K NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 AAGCGGGGCTCCCCGCGGCCG 0.701000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 41 74 0 0 1 0 0 CTBS 1486 broad.mit.edu 37 1 85039999 85040007 + In_Frame_Del DEL GCAGCGCCA GCAGCGCCA - rs3217269 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr1:85039999_85040007delGCAGCGCCA ENST00000370630.5 - 1 140_148 c.92_100delTGGCGCTGC c.(91-102)ctggcgctgcgg>cgg p.LAL31del CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) GCCGCGAGCCgcagcgccagcagcgccag 0.718 5 9 --- --- --- --- ARIH2 10425 broad.mit.edu 37 3 49011238 49011238 + Frame_Shift_Del DEL C C - TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:49011238delC ENST00000356401.4 + 9 1216 c.877delC c.(877-879)cacfs p.H293fs ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Frame_Shift_Del_p.H293fs NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 293 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) CATTAGTGCTCACACTAAAGA 0.502 30 107 --- --- --- --- ALAS1 211 broad.mit.edu 37 3 52236745 52236745 + Frame_Shift_Del DEL G G - TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:52236745delG ENST00000394965.2 + 4 782 c.422delG c.(421-423)aggfs p.R141fs ALAS1_ENST00000469224.1_Frame_Shift_Del_p.R141fs|ALAS1_ENST00000484952.1_Frame_Shift_Del_p.R141fs|ALAS1_ENST00000310271.2_Frame_Shift_Del_p.R141fs NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 141 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AATGCCGTGAGGAAAGGTAAG 0.473 12 28 --- --- --- --- LOC101243545 101243545 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 9 26 --- --- --- --- IMPA1P 650747 broad.mit.edu 37 8 82539255 82539256 + RNA INS - - T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr8:82539255_82539256insT ENST00000522318.1 - 0 127 TTATAGAATAGTTTTTTCCACA 0.327 5 11 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32633584 32633584 + Frame_Shift_Del DEL T T - TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr9:32633584delT ENST00000242310.4 - 1 2083 c.1994delA c.(1993-1995)aagfs p.K665fs RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 665 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.K665fs*4(2) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CATCTTGGCCTTTTTTTTGAT 0.478 7 225 --- --- --- --- KIAA0368 23392 broad.mit.edu 37 9 114148709 114148709 + Frame_Shift_Del DEL G G - TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr9:114148709delG ENST00000259335.4 - 33 4008 c.4009delC c.(4009-4011)caafs p.Q1337fs KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Frame_Shift_Del_p.Q1159fs NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 ACCAAATCTTGAAGAATTTCT 0.289 23 49 --- --- --- --- SLC48A1 55652 broad.mit.edu 37 12 48173996 48173997 + Frame_Shift_Ins INS - - T TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr12:48173996_48173997insT ENST00000442218.2 + 3 470_471 c.373_374insT c.(373-375)ctgfs p.L125fs SLC48A1_ENST00000547002.1_Frame_Shift_Ins_p.L68fs|SLC48A1_ENST00000442892.2_Frame_Shift_Ins_p.L68fs NM_017842.2 NP_060312.2 Q6P1K1 HRG1_HUMAN solute carrier family 48 (heme transporter), member 1 125 transport endosome membrane|integral to membrane|lysosomal membrane large_intestine(1)|lung(3)|urinary_tract(1) 5 GTGGGCCTTCCTGCTCAGCCTC 0.594 20 39 --- --- --- --- AKAP11 11215 broad.mit.edu 37 13 42882732 42882732 + Frame_Shift_Del DEL C C - TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr13:42882732delC ENST00000025301.2 + 9 5435 c.5260delC c.(5260-5262)catfs p.H1754fs NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1754 Ser-rich. intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) CAGTTTTCATCATCTAAGTGA 0.348 64 196 --- --- --- --- DNM2 1785 broad.mit.edu 37 19 10887858 10887863 + In_Frame_Del DEL CGTCTT CGTCTT - rs111845811 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr19:10887858_10887863delCGTCTT ENST00000314646.5 + 5 818_823 c.654_659delCGTCTT c.(652-660)gacgtcttg>gag p.218_220DVL>E DNM2_ENST00000359692.6_In_Frame_Del_p.218_220DVL>E|DNM2_ENST00000389253.4_In_Frame_Del_p.218_220DVL>E|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000585892.1_In_Frame_Del_p.218_220DVL>E|DNM2_ENST00000355667.6_In_Frame_Del_p.218_220DVL>E|DNM2_ENST00000408974.4_In_Frame_Del_p.218_220DVL>E P50570 DYN2_HUMAN dynamin 2 218 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) ACGCCAGGGACGTCTTGGAGAACAAG 0.592 """F, N, Splice, Mis, O""" ETP ALL 20 71 --- --- --- --- KIZ-AS1 101929591 broad.mit.edu 37 20 21142454 21142455 + RNA INS - - C rs45603533 by1000genomes TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chr20:21142454_21142455insC ENST00000591761.1 - 0 5142 PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA AAAAAAAAAAACCCCACCTAAT 0.376 7 14 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44970638 44970639 + Frame_Shift_Ins INS - - C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:44970638_44970639insC ENST00000377967.4 + 29 4229_4230 c.4188_4189insC c.(4189-4191)ccafs p.P1397fs KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.P1318fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.P1352fs|KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.P1404fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1397 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CTCCTCCATTACCATCCGCCTC 0.376 """D, N, F, S""" """renal, oesophageal SCC, MM""" 74 33 --- --- --- --- DGKK 139189 broad.mit.edu 37 X 50165595 50165596 + RNA INS - - AC rs59226442 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:50165595_50165596insAC ENST00000376025.2 - 0 816 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TTAAAAGGTAAacacacacaca 0.411 6 8 --- --- --- --- TSIX 9383 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 7 88 --- --- --- --- FTX 100302692 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 3 4 --- --- --- --- PLXNB3 5365 broad.mit.edu 37 X 153039907 153039907 + Frame_Shift_Del DEL C C - TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 736950d7-b7f1-4217-aff4-91db2a0f19ee 683bcd38-6248-4771-b24e-a22ce5c301d4 g.chrX:153039907delC ENST00000538966.1 + 23 4051 c.3780delC c.(3778-3780)ggcfs p.G1260fs PLXNB3_ENST00000538776.1_Frame_Shift_Del_p.G890fs|PLXNB3_ENST00000361971.5_Frame_Shift_Del_p.G1237fs|PLXNB3_ENST00000538282.1_Frame_Shift_Del_p.G847fs NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 1237 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TGGCCCTGGGCCCTGTGCAGT 0.701 2 4 --- --- --- ---