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 AMPH 273 broad.mit.edu 37 7 38500927 38500927 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr7:38500927C>T ENST00000356264.2 - 11 1188 c.973G>A c.(973-975)Gag>Aag p.E325K AMPH_ENST00000325590.5_Missense_Mutation_p.E325K|AMPH_ENST00000428293.2_Missense_Mutation_p.E325K NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 325 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 AAGTTGTCCTCAAAGAAACTG 0.488000 54 79 0 0 0.870114 0 0 CYP4A22 284541 broad.mit.edu 37 1 47603170 47603170 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:47603170G>T ENST00000371891.3 + 1 44 c.13G>T c.(13-15)Gtc>Ttc p.V5F CYP4A22_ENST00000371890.3_Missense_Mutation_p.V5F|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Missense_Mutation_p.V5F|CYP4A22_ENST00000485117.1_3'UTR NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 5 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GAGTGTCTCTGTCCTGAGCCC 0.587000 43 75 3.10996e-30 4.53166e-30 0.870114 1 0 MUC7 4589 broad.mit.edu 37 4 71347069 71347069 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr4:71347069C>T ENST00000413702.1 + 4 896 c.608C>T c.(607-609)cCa>cTa p.P203L MUC7_ENST00000456088.1_Missense_Mutation_p.P203L|MUC7_ENST00000304887.5_Missense_Mutation_p.P203L NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 203 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) CAAGCTCCACCATCTTCCTCA 0.587000 4 129 0 0 0.150653 0 0 TOPBP1 11073 broad.mit.edu 37 3 133341937 133341937 + Missense_Mutation SNP C C G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr3:133341937C>G ENST00000260810.5 - 19 3307 c.3176G>C c.(3175-3177)gGa>gCa p.G1059A NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 1059 DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 tattttaCCTCCTTTAGAGTC 0.338000 Other conserved DNA damage response genes 8 0 0 0 0.361761 0 0 OR4C15 81309 broad.mit.edu 37 11 55322491 55322491 + Silent SNP T T C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr11:55322491T>C ENST00000314644.2 + 1 709 c.709T>C c.(709-711)Tta>Cta p.L237L NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 CTTGTACCCGTTACTGGAGCT 0.448000 HNSCC(20;0.049) 14 11 0 0 0.457914 0 0 PCNT 5116 broad.mit.edu 37 21 47769714 47769714 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr21:47769714G>A ENST00000359568.5 + 8 1431 c.1324G>A c.(1324-1326)Gag>Aag p.E442K PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 442 Glu-rich. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CAAAGAGAGCGAGAAAGAAAA 0.433000 21 35 0 0 0.717897 0 0 CCND3 896 broad.mit.edu 37 6 41908692 41908692 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr6:41908692G>A ENST00000372987.4 - 1 565 c.46C>T c.(46-48)Cgg>Tgg p.R16W CCND3_ENST00000415497.2_Intron|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000372988.4_Intron|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000372991.4_Intron|CCND3_ENST00000510503.1_Intron|CCND3_ENST00000511642.1_Intron P30281 CCND3_HUMAN cyclin D3 241 cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 20 Colorectal(47;0.121) Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GCACACACCCGAGGGGAAGGG 0.677000 T IGH@ MM 63 76 0 0 0.870114 0 0 PCDH20 64881 broad.mit.edu 37 13 61986716 61986716 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr13:61986716C>A ENST00000409186.1 - 5 3621 c.1516G>T c.(1516-1518)Gct>Tct p.A506S PCDH20_ENST00000409204.4_Missense_Mutation_p.A506S Q8N6Y1 PCD20_HUMAN protocadherin 20 479 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) GCCACCACAGCTACTTCATAG 0.388000 63 78 9.61239e-26 1.36176e-25 0.870114 1 0 EME1 146956 broad.mit.edu 37 17 48452831 48452831 + Nonsense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:48452831G>T ENST00000393271.2 + 2 344 c.262G>T c.(262-264)Gaa>Taa p.E88* EME1_ENST00000338165.4_Nonsense_Mutation_p.E88*|EME1_ENST00000511648.2_Nonsense_Mutation_p.E88* NM_001166131.1 NP_001159603.1 Q96AY2 EME1_HUMAN essential meiotic structure-specific endonuclease 1 88 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 19 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) CAGTGAAAGTGAAGATGAAGA 0.463000 Direct reversal of damage;Homologous recombination 37 53 8.86878e-18 1.13077e-17 0.870114 1 0 KAT6B 23522 broad.mit.edu 37 10 76603021 76603021 + Missense_Mutation SNP C C G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr10:76603021C>G ENST00000287239.4 + 3 895 c.406C>G c.(406-408)Caa>Gaa p.Q136E KAT6B_ENST00000372725.1_Missense_Mutation_p.Q136E|KAT6B_ENST00000372711.1_Missense_Mutation_p.Q136E|KAT6B_ENST00000372724.1_Missense_Mutation_p.Q136E|KAT6B_ENST00000372714.1_Missense_Mutation_p.Q136E NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 136 H15. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding TCTCAGAAGTCAAAGTGATCT 0.498000 29 22 0 0 0.706142 0 0 TGFBR2 7048 broad.mit.edu 37 3 30715617 30715617 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr3:30715617G>T ENST00000295754.5 + 5 1657 c.1275G>T c.(1273-1275)atG>atT p.M425I TGFBR2_ENST00000359013.4_Missense_Mutation_p.M450I NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 425 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 CAAGATACATGGCTCCAGAAG 0.453000 26 6 6.53348e-20 8.54378e-20 0.788014 1 0 ZFYVE1 53349 broad.mit.edu 37 14 73459948 73459948 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr14:73459948G>A ENST00000556143.1 - 4 1826 c.1106C>T c.(1105-1107)aCg>aTg p.T369M ZFYVE1_ENST00000318876.5_Missense_Mutation_p.T369M|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.T369M NM_001281735.1|NM_021260.2 NP_001268664.1|NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 369 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) AGAAAAGTCCGTGGGAGGGTT 0.562000 47 50 0 0 0.870114 0 0 C2orf42 54980 broad.mit.edu 37 2 70392226 70392226 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:70392226C>T ENST00000264434.2 - 8 1730 c.1351G>A c.(1351-1353)Gag>Aag p.E451K C2orf42_ENST00000420306.1_Missense_Mutation_p.E451K NM_017880.1 NP_060350.1 Q9NWW7 CB042_HUMAN chromosome 2 open reading frame 42 451 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 ACTCTCACCTCTGGGGTATCT 0.428000 44 55 0 0 0.870114 0 0 ZNF845 91664 broad.mit.edu 37 19 53855364 53855364 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:53855364C>T ENST00000458035.1 + 4 1553 c.1436C>T c.(1435-1437)aCa>aTa p.T479I ZNF845_ENST00000595091.1_Missense_Mutation_p.T479I NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 479 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TTCAGTCAGACATCATCCCTT 0.378000 4 94 0 0 0.217242 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580552 40580552 + Missense_Mutation SNP T T G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:40580552T>G ENST00000450241.2 - 6 2006 c.1695A>C c.(1693-1695)caA>caC p.Q565H ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000414720.2_Intron O75290 Z780A_HUMAN zinc finger protein 780A 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCGAATAAGTTGCATATGAA 0.403000 4 127 0 0 0.217242 0 0 NPC1 4864 broad.mit.edu 37 18 21119389 21119389 + Silent SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr18:21119389G>A ENST00000269228.5 - 19 3395 c.2841C>T c.(2839-2841)ttC>ttT p.F947F NPC1_ENST00000412552.2_Silent_p.F629F NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 947 autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) TCACCCAGTCGAAATAATCGT 0.502000 21 31 0 0 0.706142 0 0 HTR1D 3352 broad.mit.edu 37 1 23519904 23519904 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:23519904G>A ENST00000374619.1 - 1 1318 c.809C>T c.(808-810)tCc>tTc p.S270F HTR1D_ENST00000314113.3_Missense_Mutation_p.S270F NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 270 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) AAAGAGAGGGGAGCCAGCCGA 0.572000 34 46 0 0 0.804634 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118228730 118228730 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr10:118228730C>A ENST00000369230.3 + 9 1107 c.961C>A c.(961-963)Cca>Aca p.P321T NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 321 lipid catabolic process extracellular region triglyceride lipase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) AGAAGGTTGCCCAACAATGGG 0.358000 18 19 1.22574e-08 1.38917e-08 0.624587 1 0 F5 2153 broad.mit.edu 37 1 169510463 169510463 + Missense_Mutation SNP A A G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:169510463A>G ENST00000367796.3 - 13 4081 c.3880T>C c.(3880-3882)Ttc>Ctc p.F1294L F5_ENST00000367797.3_Missense_Mutation_p.F1289L P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1289 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTCTGGCTGAAGTCTAGAGAA 0.517000 5 363 0 0 0.457914 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104206397 104206397 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr14:104206397C>A ENST00000202556.9 - 12 2638 c.2356G>T c.(2356-2358)Gcc>Tcc p.A786S PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Missense_Mutation_p.A205S NM_015316.2 NP_056131.2 Q96KQ4 ASPP1_HUMAN protein phosphatase 1, regulatory subunit 13B 786 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) GATGACGGGGCAGGCTCAGCG 0.602000 44 83 1.4709e-25 2.06466e-25 0.870114 1 0 TFCP2L1 29842 broad.mit.edu 37 2 122038802 122038802 + Silent SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:122038802C>A ENST00000263707.5 - 2 205 c.108G>T c.(106-108)ctG>ctT p.L36L NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 36 Mediate transcriptional repression. female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) TCTCGGGGGACAGCTGGGGTT 0.622000 63 115 6.20995e-33 9.1358e-33 0.870114 1 0 CCDC157 550631 broad.mit.edu 37 22 30772567 30772567 + Missense_Mutation SNP T T C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr22:30772567T>C ENST00000405659.1 + 12 2801 c.2092T>C c.(2092-2094)Tct>Cct p.S698P RP1-130H16.16_ENST00000332468.4_RNA|CCDC157_ENST00000338306.3_Missense_Mutation_p.S698P Q569K6 CC157_HUMAN coiled-coil domain containing 157 698 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 CACATCCCCATCTCGGCAGCC 0.667000 7 281 0 0 0.387290 0 0 CDKN1A 1026 broad.mit.edu 37 6 36652020 36652020 + Nonsense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr6:36652020C>T ENST00000405375.1 + 2 377 c.142C>T c.(142-144)Cga>Tga p.R48* CDKN1A_ENST00000373711.2_Nonsense_Mutation_p.R48*|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Nonsense_Mutation_p.R82*|CDKN1A_ENST00000244741.5_Nonsense_Mutation_p.R48* NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 48 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 GGCCCGTGAGCGATGGAACTT 0.662000 29 58 0 0 0.760397 0 0 KCNC4 3749 broad.mit.edu 37 1 110754241 110754241 + Silent SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:110754241C>T ENST00000369787.3 + 1 147 c.120C>T c.(118-120)atC>atT p.I40I KCNC4_ENST00000438661.2_Silent_p.I40I|KCNC4_ENST00000413138.3_Silent_p.I40I NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 40 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) AGATCATCATCAACGTGGGCG 0.677000 20 35 0 0 0.681144 0 0 NLRP11 204801 broad.mit.edu 37 19 56297208 56297208 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:56297208G>T ENST00000443188.1 - 12 3595 c.2885C>A c.(2884-2886)aCc>aAc p.T962N NLRP11_ENST00000592953.1_Missense_Mutation_p.T863N|NLRP11_ENST00000589824.2_Missense_Mutation_p.T908N|NLRP11_ENST00000360133.3_Missense_Mutation_p.T908N|NLRP11_ENST00000589093.1_Missense_Mutation_p.T962N NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 962 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CAACTGCTGGGTTTGTGTGTT 0.433000 18 28 0.00074312 0.00078412 0.539581 1 0 NBPF3 84224 broad.mit.edu 37 1 21798095 21798095 + Silent SNP A A G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:21798095A>G ENST00000318220.6 + 8 1360 c.312A>G c.(310-312)cgA>cgG p.R104R NBPF3_ENST00000342104.5_Silent_p.R160R|NBPF3_ENST00000318249.5_Silent_p.R160R|NBPF3_ENST00000454000.2_Silent_p.R90R Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 160 cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CTCAGGAACGAGAGCTGACCC 0.473000 6 281 0 0 0.361761 0 0 ZNF563 147837 broad.mit.edu 37 19 12429722 12429722 + Missense_Mutation SNP T T C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:12429722T>C ENST00000293725.5 - 4 1322 c.1117A>G c.(1117-1119)Acg>Gcg p.T373A NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TGAGATAACGTTTTCCCACAC 0.413000 5 167 0 0 0.278610 0 0 ZNF845 91664 broad.mit.edu 37 19 53855365 53855365 + Silent SNP A A G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:53855365A>G ENST00000458035.1 + 4 1554 c.1437A>G c.(1435-1437)acA>acG p.T479T ZNF845_ENST00000595091.1_Silent_p.T479T NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 479 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TCAGTCAGACATCATCCCTTG 0.378000 4 95 0 0 0.278610 0 0 SBF2 81846 broad.mit.edu 37 11 9812207 9812207 + Missense_Mutation SNP C C G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr11:9812207C>G ENST00000256190.8 - 34 4731 c.4594G>C c.(4594-4596)Gaa>Caa p.E1532Q SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000526617.1_RNA NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 1532 Myotubularin phosphatase. myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) GCATGCTTTTCTCCTTTATCA 0.308000 33 54 0 0 0.853193 0 0 TPTE2 93492 broad.mit.edu 37 13 20012235 20012235 + Silent SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr13:20012235G>T ENST00000400230.2 - 14 1076 c.1032C>A c.(1030-1032)gcC>gcA p.A344A TPTE2_ENST00000382975.4_Silent_p.A304A|TPTE2_ENST00000255310.6_Silent_p.A267A|TPTE2_ENST00000382978.1_Silent_p.A304A|TPTE2_ENST00000400103.2_Silent_p.A233A|TPTE2_ENST00000382977.4_Silent_p.A344A|TPTE2_ENST00000390680.2_Silent_p.A267A|TPTE2_ENST00000457266.2_Silent_p.A233A Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 344 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) TTCATACCTCGGCAGTTAAAA 0.373000 3 95 8.12818e-05 8.6362e-05 0.248553 1 0 USP32 84669 broad.mit.edu 37 17 58268030 58268030 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:58268030C>A ENST00000300896.4 - 29 3730 c.3536G>T c.(3535-3537)tGt>tTt p.C1179F USP32_ENST00000592339.1_Missense_Mutation_p.C849F NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 1179 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) ATCAATTTTACAGCCTCTGCA 0.393000 39 55 2.77807e-22 3.76146e-22 0.864702 1 0 OR6Y1 391112 broad.mit.edu 37 1 158517011 158517011 + Nonsense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:158517011G>T ENST00000302617.3 - 1 884 c.885C>A c.(883-885)taC>taA p.Y295* NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) TCCTCAGACAGTAAATGATGG 0.458000 40 67 1.81118e-26 2.58982e-26 0.870114 1 0 SDK2 54549 broad.mit.edu 37 17 71390398 71390398 + Missense_Mutation SNP A A G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:71390398A>G ENST00000392650.3 - 26 3658 c.3658T>C c.(3658-3660)Tgg>Cgg p.W1220R SDK2_ENST00000388726.3_Missense_Mutation_p.W1220R NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1220 Fibronectin type-III 7. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 ACCTCGCTCCAGCGCACCAGC 0.652000 16 16 0 0 0.608945 0 0 LHX5 64211 broad.mit.edu 37 12 113906970 113906970 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr12:113906970G>T ENST00000261731.3 - 2 927 c.354C>A c.(352-354)gaC>gaA p.D118E NM_022363.2 NP_071758.1 Q9H2C1 LHX5_HUMAN LIM homeobox 5 118 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 10 AGCTCAGGTAGTCGTCTTTGC 0.572000 11 13 3.86212e-05 4.1613e-05 0.361761 1 0 GPRIN2 9721 broad.mit.edu 37 10 46999113 46999113 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr10:46999113C>T ENST00000374314.4 + 1 1188 c.233C>T c.(232-234)tCt>tTt p.S78F GPRIN2_ENST00000374317.1_Missense_Mutation_p.S78F O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 78 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 GCACGGGCCTCTGGCCCCAAG 0.701000 7 48 0 0 0.361761 0 0 EZH2 2146 broad.mit.edu 37 7 148511213 148511213 + Silent SNP C C A rs144723981 TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr7:148511213C>A ENST00000320356.2 - 15 1810 c.1689G>T c.(1687-1689)ccG>ccT p.P563P EZH2_ENST00000350995.2_Silent_p.P519P|EZH2_ENST00000478654.1_Silent_p.P507P|EZH2_ENST00000460911.1_Silent_p.P558P|EZH2_ENST00000483967.1_Silent_p.P549P|EZH2_ENST00000476773.1_Silent_p.P507P|EZH2_ENST00000541220.1_Silent_p.P507P NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 558 Cys-rich. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding p.P519P(2)|p.P563P(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) AGCGGCATCCCGGAAAGCGGT 0.547000 Mis DLBCL 65 103 2.43516e-34 3.61728e-34 0.870114 1 0 RP1 6101 broad.mit.edu 37 8 55542115 55542115 + Missense_Mutation SNP G G T rs139088785 byFrequency TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr8:55542115G>T ENST00000220676.1 + 4 5821 c.5673G>T c.(5671-5673)ttG>ttT p.L1891F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1891 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACCAACCATTGCCTGGCAGTA 0.388000 30 50 3.90053e-15 4.77425e-15 0.760397 1 0 DNAH9 1770 broad.mit.edu 37 17 11584169 11584169 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:11584169C>A ENST00000262442.4 + 19 3774 c.3706C>A c.(3706-3708)Caa>Aaa p.Q1236K DNAH9_ENST00000454412.2_Missense_Mutation_p.Q1236K 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) AGAACAGCAGCAATTCTGGGA 0.527000 10 17 0.000978159 0.00102506 0.387290 1 0 CCT6P3 643180 broad.mit.edu 37 7 64530765 64530765 + RNA SNP C C G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr7:64530765C>G ENST00000426828.1 + 0 997 NR_033416.1 AACCCTCGTTCTATCACATTA 0.398000 3 4 0 0 0.150653 0 0 VPS39 23339 broad.mit.edu 37 15 42454656 42454656 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr15:42454656C>T ENST00000318006.5 - 22 2361 c.2199G>A c.(2197-2199)atG>atA p.M733I VPS39_ENST00000348544.4_Missense_Mutation_p.M744I NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 744 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) GCGACAGGTACATCCGAAGCA 0.592000 12 44 0 0 0.435327 0 0 NTRK2 4915 broad.mit.edu 37 9 87366903 87366903 + Silent SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr9:87366903C>A ENST00000304053.6 + 12 1782 c.1299C>A c.(1297-1299)gtC>gtA p.V433V NTRK2_ENST00000376208.1_Silent_p.V433V|NTRK2_ENST00000359847.3_Silent_p.V433V|NTRK2_ENST00000376214.1_Silent_p.V433V|NTRK2_ENST00000277120.3_Silent_p.V433V|NTRK2_ENST00000395882.1_Silent_p.V433V|NTRK2_ENST00000395866.2_Silent_p.V277V|NTRK2_ENST00000376213.1_Silent_p.V433V|NTRK2_ENST00000323115.4_Silent_p.V433V NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 433 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 TTCTCTAGGTCTATGCTGTGG 0.423000 TSP Lung(25;0.17) 29 35 8.73648e-17 1.1047e-16 0.796494 1 0 C3orf67 200844 broad.mit.edu 37 3 58849547 58849547 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr3:58849547C>T ENST00000472469.1 - 11 1514 c.676G>A c.(676-678)Ggt>Agt p.G226S RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.G319S|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.G319S|RP11-147N17.1_ENST00000493123.1_RNA Q6ZVT6 CC067_HUMAN chromosome 3 open reading frame 67 319 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) GAGTCATCACCCAGAAGTAGA 0.463000 39 3 0 0 0.834066 0 0 TP53 7157 broad.mit.edu 37 17 7576855 7576855 + Nonsense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:7576855G>A ENST00000420246.2 - 9 1123 c.991C>T c.(991-993)Cag>Tag p.Q331* TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 331 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTTAGTACCTGAAGGGTGAAA 0.448000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 26 44 0 0 0.729181 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53730066 53730066 + Missense_Mutation SNP T T A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr16:53730066T>A ENST00000262135.4 - 3 320 c.227A>T c.(226-228)aAa>aTa p.K76I RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.K76I|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.K76I|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.K76I|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.K76I|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.K76I NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 76 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) TCATAACCTTTTAATTTTATC 0.353000 31 47 0 0 0.804634 0 0 OR4A5 81318 broad.mit.edu 37 11 51411647 51411647 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr11:51411647G>T ENST00000319760.6 - 1 801 c.749C>A c.(748-750)cCc>cAc p.P250H NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P250Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) GAAAATACAGGGTACAAAAAA 0.398000 19 31 8.04996e-18 1.03499e-17 0.608945 1 0 KIFAP3 22920 broad.mit.edu 37 1 169951164 169951164 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:169951164C>A ENST00000367765.1 - 15 3128 c.1627G>T c.(1627-1629)Gca>Tca p.A543S KIFAP3_ENST00000361580.2_Missense_Mutation_p.A583S|KIFAP3_ENST00000540905.1_Missense_Mutation_p.A285S|KIFAP3_ENST00000538366.1_Missense_Mutation_p.A505S|KIFAP3_ENST00000367767.1_Missense_Mutation_p.A539S NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 583 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCTAGCAATGCAGCACAAGAG 0.348000 23 31 2.4375e-19 3.16048e-19 0.717897 1 0 PRDM14 63978 broad.mit.edu 37 8 70970924 70970924 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr8:70970924C>T ENST00000276594.2 - 6 1538 c.1337G>A c.(1336-1338)cGg>cAg p.R446Q NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 446 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GATCCGAAGCCGGTCCCGCTT 0.507000 29 42 0 0 0.779181 0 0 NUP98 4928 broad.mit.edu 37 11 3744407 3744407 + Missense_Mutation SNP G G C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr11:3744407G>C ENST00000324932.7 - 16 2546 c.2126C>G c.(2125-2127)tCt>tGt p.S709C NUP98_ENST00000355260.3_Missense_Mutation_p.S709C|NUP98_ENST00000359171.4_Missense_Mutation_p.S709C|NUP98_ENST00000397007.4_Missense_Mutation_p.S726C|NUP98_ENST00000397004.4_Missense_Mutation_p.S709C NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 726 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CATATGGTAAGAATTATTTTC 0.423000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 32 50 0 0 0.804634 0 0 MISP 126353 broad.mit.edu 37 19 758421 758421 + Missense_Mutation SNP C C T rs112598403 TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:758421C>T ENST00000215582.6 + 2 1578 c.1475C>T c.(1474-1476)cCg>cTg p.P492L NM_173481.2 NP_775752.1 mitotic spindle positioning CGGGGATGCCCGCAAGCCAAC 0.632000 25 4 0 0 0.769981 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986016 11986016 + RNA SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr8:11986016C>A ENST00000434078.2 + 0 608 NR_027425.1 AACGTCTTGGCGGCAGGCGCC 0.478000 5 69 0.0293803 0.0301691 0.248553 1 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 3 12 0 0 0.150653 0 0 MPDZ 8777 broad.mit.edu 37 9 13121876 13121876 + Missense_Mutation SNP C C G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr9:13121876C>G ENST00000319217.7 - 38 5340 c.5093G>C c.(5092-5094)aGa>aCa p.R1698T MPDZ_ENST00000538841.1_Missense_Mutation_p.R557T|MPDZ_ENST00000546205.1_Missense_Mutation_p.R1712T|MPDZ_ENST00000536827.1_Missense_Mutation_p.R1665T|MPDZ_ENST00000447879.1_Missense_Mutation_p.R1665T|MPDZ_ENST00000541718.1_Missense_Mutation_p.R1698T|MPDZ_ENST00000381022.2_Missense_Mutation_p.R1698T|MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000381015.4_Missense_Mutation_p.R1698T NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1698 PDZ 10. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) TGGCGTCTGTCTCAGGACATT 0.473000 11 2 0 0 0.387290 0 0 CHRM3 1131 broad.mit.edu 37 1 240071577 240071577 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:240071577G>A ENST00000255380.4 + 5 1605 c.826G>A c.(826-828)Gag>Aag p.E276K NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 276 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) GACAGAGGCAGAGACAGAAAA 0.488000 17 26 0 0 0.575678 0 0 AFF2 2334 broad.mit.edu 37 X 148055007 148055007 + Missense_Mutation SNP A A C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chrX:148055007A>C ENST00000370460.2 + 16 3753 c.3274A>C c.(3274-3276)Aaa>Caa p.K1092Q AFF2_ENST00000286437.5_Missense_Mutation_p.K733Q|AFF2_ENST00000370457.5_Missense_Mutation_p.K1057Q|AFF2_ENST00000342251.3_Missense_Mutation_p.K1059Q NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1092 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TCAGTTCGAGAAATTTGGCAA 0.463000 76 6 0 0 0.870114 0 0 PTCH1 5727 broad.mit.edu 37 9 98209683 98209683 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr9:98209683C>A ENST00000430669.2 - 23 4242 c.3657G>T c.(3655-3657)caG>caT p.Q1219H PTCH1_ENST00000331920.6_Missense_Mutation_p.Q1285H|PTCH1_ENST00000375274.2_Missense_Mutation_p.Q1284H|PTCH1_ENST00000437951.1_Missense_Mutation_p.Q1219H|PTCH1_ENST00000421141.1_Missense_Mutation_p.Q1134H|PTCH1_ENST00000429896.2_Missense_Mutation_p.Q1134H|PTCH1_ENST00000418258.1_Missense_Mutation_p.Q1134H Q13635 PTC1_HUMAN patched 1 1285 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CCAGGTGGGGCTGCTGTCTCG 0.677000 76 85 1.49228e-48 2.32979e-48 0.870114 1 0 SCN1A 6323 broad.mit.edu 37 2 166848518 166848518 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:166848518C>A ENST00000423058.2 - 26 5284 c.5267G>T c.(5266-5268)tGt>tTt p.C1756F AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.C1745F|SCN1A_ENST00000409050.1_Missense_Mutation_p.C1728F|SCN1A_ENST00000303395.4_Missense_Mutation_p.C1756F NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1756 C -> G (in SMEI; dbSNP:rs121918809). voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGGGTTCCCACAGTCTCCCTT 0.468000 60 105 1.07363e-35 1.61044e-35 0.870114 1 0 CDC42BPA 8476 broad.mit.edu 37 1 227198689 227198689 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:227198689G>T ENST00000334218.5 - 34 5770 c.4828C>A c.(4828-4830)Cac>Aac p.H1610N CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000366764.2_Intron|CDC42BPA_ENST00000366765.3_Intron|CDC42BPA_ENST00000366769.3_Intron|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000366766.2_Intron Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1615 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) ACAGTCATGTGATAGATGTGT 0.428000 6 8 8.12818e-05 8.6362e-05 0.248553 1 0 GRIK5 2901 broad.mit.edu 37 19 42526200 42526200 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:42526200C>A ENST00000262895.3 - 13 1595 c.1596G>T c.(1594-1596)aaG>aaT p.K532N GRIK5_ENST00000593562.1_Missense_Mutation_p.K532N|GRIK5_ENST00000301218.4_Missense_Mutation_p.K532N NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 532 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) AGTAGCCAGGCTTGCGGCCCT 0.652000 13 18 6.31663e-08 7.05433e-08 0.479597 1 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296626 39296626 + Silent SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:39296626G>A ENST00000345847.4 - 1 113 c.114C>T c.(112-114)ccC>ccT p.P38P NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 38 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 CACAGCAGCTGGGGCGGCAGC 0.667000 5 156 0 0 0.184627 0 0 DMXL2 23312 broad.mit.edu 37 15 51741202 51741202 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr15:51741202G>T ENST00000251076.5 - 43 9377 c.9090C>A c.(9088-9090)aaC>aaA p.N3030K DMXL2_ENST00000543779.2_Missense_Mutation_p.N3031K|DMXL2_ENST00000449909.3_Missense_Mutation_p.N2394K|RP11-707P17.1_ENST00000561007.1_RNA NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 3030 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) CAAGAATTCTGTTAGGGATGT 0.408000 8 22 2.74318e-10 3.15569e-10 0.335167 1 0 SPAG17 200162 broad.mit.edu 37 1 118537064 118537064 + Silent SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:118537064G>T ENST00000336338.5 - 35 5208 c.5143C>A c.(5143-5145)Cgg>Agg p.R1715R NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1715 cilium|flagellar axoneme|microtubule p.R1715W(1) NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GACCTTGACCGGAGATTAGGA 0.428000 27 49 6.70999e-13 7.95835e-13 0.796494 1 0 CMYA5 202333 broad.mit.edu 37 5 79027444 79027444 + Silent SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr5:79027444G>T ENST00000446378.2 + 2 2887 c.2856G>T c.(2854-2856)gtG>gtT p.V952V NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 952 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) CTGCATTTGTGTCAGAATTCT 0.393000 20 2 1.64293e-13 1.97928e-13 0.654019 1 0 ZNF761 388561 broad.mit.edu 37 19 53958910 53958910 + RNA SNP A A G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:53958910A>G ENST00000454407.1 + 0 1602 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K329K(1) endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) AACCCTACAAATGTAATGAGT 0.413000 5 227 0 0 0.335167 0 0 DCLK2 166614 broad.mit.edu 37 4 151023702 151023702 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr4:151023702G>T ENST00000296550.7 + 2 1248 c.494G>T c.(493-495)tGg>tTg p.W165L DCLK2_ENST00000506325.1_Missense_Mutation_p.W165L|DCLK2_ENST00000302176.8_Missense_Mutation_p.W165L NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 165 intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) AATCCAAACTGGTCTGTGAAC 0.393000 29 4 2.19489e-29 3.16809e-29 0.819951 1 0 HRG 3273 broad.mit.edu 37 3 186389456 186389456 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr3:186389456G>T ENST00000232003.4 + 4 516 c.436G>T c.(436-438)Gat>Tat p.D146Y NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 146 Cystatin 2. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) GGTCCTCATAGATTTCTTTGA 0.453000 28 26 1.06801e-11 1.24737e-11 0.740014 1 0 FAM91A1 157769 broad.mit.edu 37 8 124787454 124787454 + Silent SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr8:124787454C>T ENST00000334705.7 + 3 471 c.225C>T c.(223-225)ctC>ctT p.L75L FAM91A1_ENST00000521166.1_Silent_p.L75L NM_144963.2 NP_659400 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 75 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) GAGATCATCTCATGCTGTACC 0.388000 35 39 0 0 0.812448 0 0 RYR1 6261 broad.mit.edu 37 19 38966040 38966040 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:38966040G>A ENST00000355481.4 + 29 4374 c.4243G>A c.(4243-4245)Gtg>Atg p.V1415M RYR1_ENST00000360985.3_Missense_Mutation_p.V1415M|RYR1_ENST00000359596.3_Missense_Mutation_p.V1415M NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1415 6 X approximate repeats.|B30.2/SPRY 3. 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) TCACGACGTGGTGCCTGCAGA 0.607000 19 30 0 0 0.639603 0 0 COCH 1690 broad.mit.edu 37 14 31349663 31349663 + Nonsense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr14:31349663C>T ENST00000460581.2 + 5 652 c.106C>T c.(106-108)Cga>Tga p.R36* COCH_ENST00000475087.1_Nonsense_Mutation_p.R148*|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Nonsense_Mutation_p.R148*|COCH_ENST00000396618.3_Nonsense_Mutation_p.R148* O43405 COCH_HUMAN cochlin 148 LCCL. sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) TTCAGGTAAACGACTAAAGAA 0.413000 8 12 0 0 0.387290 0 0 GP2 2813 broad.mit.edu 37 16 20322574 20322574 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr16:20322574G>T ENST00000302555.5 - 11 1725 c.1576C>A c.(1576-1578)Ctg>Atg p.L526M GP2_ENST00000341642.5_Missense_Mutation_p.L379M|GP2_ENST00000381362.4_Missense_Mutation_p.L529M|GP2_ENST00000381360.5_Missense_Mutation_p.L382M P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 529 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 AGGACAGTCAGGAGGACCATA 0.522000 38 48 8.30282e-39 1.27033e-38 0.870114 1 0 ZNF573 126231 broad.mit.edu 37 19 38262256 38262256 + Silent SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:38262256C>T ENST00000590414.2 - 2 171 c.150G>A c.(148-150)agG>agA p.R50R ZNF573_ENST00000585724.1_Intron|ZNF573_ENST00000339503.4_5'UTR|ZNF573_ENST00000357309.3_Intron|ZNF573_ENST00000392138.1_5'UTR|ZNF573_ENST00000536220.1_5'UTR Q86YE8 ZN573_HUMAN zinc finger protein 573 30 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) TGTATAAGTCCCTCTGATTAG 0.418000 16 24 0 0 0.539581 0 0 PTPN21 11099 broad.mit.edu 37 14 88983603 88983603 + Silent SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr14:88983603G>A ENST00000556564.1 - 3 467 c.183C>T c.(181-183)gtC>gtT p.V61V PTPN21_ENST00000328736.3_Silent_p.V61V|PTPN21_ENST00000554628.1_5'UTR NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 61 FERM. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TGAAGTAAGTGACCTGGAAAG 0.433000 14 52 0 0 0.539581 0 0 ELAVL4 1996 broad.mit.edu 37 1 50610812 50610812 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:50610812C>T ENST00000371824.1 + 2 450 c.193C>T c.(193-195)Ctc>Ttc p.L65F ELAVL4_ENST00000371827.1_Missense_Mutation_p.L65F|ELAVL4_ENST00000371819.1_Missense_Mutation_p.L70F|ELAVL4_ENST00000371823.4_Missense_Mutation_p.L65F|ELAVL4_ENST00000371821.1_Missense_Mutation_p.L70F|ELAVL4_ENST00000357083.4_Missense_Mutation_p.L82F|ELAVL4_ENST00000448907.2_Missense_Mutation_p.L68F|ELAVL4_ENST00000492299.1_3'UTR P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 65 RRM 1. 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 ATTCAGGAGTCTCTTCGGGAG 0.433000 13 78 0 0 0.479597 0 0 TP53 7157 broad.mit.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:7578403C>A ENST00000420246.2 - 5 659 c.527G>T c.(526-528)tGc>tTc p.C176F TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.C176F|TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 176 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ATGGTGGGGGCAGCGCCTCAC 0.652000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 31 32 1.8453e-21 2.45505e-21 0.853193 1 0 MT-CO3 4514 broad.mit.edu 37 MT 9985 9985 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chrM:9985G>A ENST00000362079.2 + 1 779 c.779G>A c.(778-780)gGg>gAg p.G260E mitochondrially encoded cytochrome c oxidase III breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1) 27 CTATTGATGAGGGTCTTACTC 0.343000 3 0 0 0 0.115264 0 0 CDC27 996 broad.mit.edu 37 17 45219270 45219270 + Nonsense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:45219270C>T ENST00000066544.3 - 12 1593 c.1500G>A c.(1498-1500)tgG>tgA p.W500* CDC27_ENST00000527547.1_Nonsense_Mutation_p.W499*|CDC27_ENST00000446365.2_Nonsense_Mutation_p.W439*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.W506* NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 500 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 GGCACAGTACCCAACCAGTAT 0.353000 6 225 0 0 0.411799 0 0 EEF1B2 1933 broad.mit.edu 37 2 207026135 207026135 + Missense_Mutation SNP G G C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:207026135G>C ENST00000392222.2 + 3 644 c.269G>C c.(268-270)aGt>aCt p.S90T EEF1B2_ENST00000392221.1_Missense_Mutation_p.S90T|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S90T NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 90 cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 ACTACAGGAAGTGGAGCTACA 0.438000 58 80 0 0 0.870114 0 0 LINC00477 144360 broad.mit.edu 37 12 24736473 24736473 + RNA SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr12:24736473C>T ENST00000483544.1 - 0 629 NR_029451.2 TGGCCATCTCCCATGCCTCTG 0.517000 20 25 0 0 0.667858 0 0 TOP2A 7153 broad.mit.edu 37 17 38564286 38564286 + Missense_Mutation SNP C C G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:38564286C>G ENST00000423485.1 - 12 1591 c.1433G>C c.(1432-1434)aGa>aCa p.R478T NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 478 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) ATATTTGTCTCTCCCAACCAC 0.428000 19 37 0 0 0.624587 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111576460 111576460 + Nonsense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr5:111576460G>T ENST00000261486.5 - 10 1119 c.843C>A c.(841-843)tgC>tgA p.C281* RP11-526F3.1_ENST00000504004.1_RNA NM_022140.3 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 281 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) AGAGGTGCTTGCAAGCAGTTT 0.343000 24 6 1.48458e-05 1.62244e-05 0.788014 1 0 C2orf42 54980 broad.mit.edu 37 2 70392294 70392294 + Missense_Mutation SNP C C G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:70392294C>G ENST00000264434.2 - 8 1662 c.1283G>C c.(1282-1284)gGa>gCa p.G428A C2orf42_ENST00000420306.1_Missense_Mutation_p.G428A NM_017880.1 NP_060350.1 Q9NWW7 CB042_HUMAN chromosome 2 open reading frame 42 428 endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 12 GGAAAAGGTTCCCAGTGGCAA 0.353000 28 30 0 0 0.740014 0 0 CTNNA2 1496 broad.mit.edu 37 2 80101255 80101255 + Silent SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:80101255G>A ENST00000466387.1 + 10 1363 c.639G>A c.(637-639)ctG>ctA p.L213L CTNNA2_ENST00000402739.4_Silent_p.L213L|CTNNA2_ENST00000496558.1_Silent_p.L213L|CTNNA2_ENST00000541047.1_Silent_p.L213L|CTNNA2_ENST00000540488.1_Silent_p.L213L|CTNNA2_ENST00000361291.4_Silent_p.L247L P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 213 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 GAGGGGCTCTGAAGAAGAATG 0.517000 26 23 0 0 0.717897 0 0 MFSD9 84804 broad.mit.edu 37 2 103353184 103353184 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:103353184C>T ENST00000258436.5 - 1 129 c.86G>A c.(85-87)gGa>gAa p.G29E NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 29 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 CGCCTCGGTTCCTGTCTTCTG 0.677000 22 28 0 0 0.608945 0 0 GUCY2F 2986 broad.mit.edu 37 X 108708376 108708376 + Missense_Mutation SNP C C A rs149453194 byFrequency TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chrX:108708376C>A ENST00000218006.2 - 3 1318 c.1027G>T c.(1027-1029)Gat>Tat p.D343Y NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 343 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 CTTACTTGATCGAACTCCAGC 0.433000 61 7 8.40228e-50 1.33911e-49 0.870114 1 0 HIRA 7290 broad.mit.edu 37 22 19393309 19393309 + Splice_Site SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr22:19393309C>T ENST00000263208.5 - 5 653 c.397G>A c.(397-399)Gat>Aat p.D133N HIRA_ENST00000340170.4_Splice_Site_p.D133N|HIRA_ENST00000546308.1_Splice_Site_p.D89N|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000541063.1_Splice_Site_p.D89N NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 133 chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) TCCCACTCACCGCCTGAATGA 0.607000 22 37 0 0 0.654019 0 0 A2M 2 broad.mit.edu 37 12 9262584 9262584 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr12:9262584C>A ENST00000318602.7 - 6 859 c.552G>T c.(550-552)gaG>gaT p.E184D NM_000014.4 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin 184 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) TGAGGCCACCCTCTAACTGGA 0.463000 37 54 1.57945e-13 1.91791e-13 0.859065 1 0 NMBR 4829 broad.mit.edu 37 6 142409788 142409788 + Missense_Mutation SNP G G C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr6:142409788G>C ENST00000258042.1 - 1 148 c.8C>G c.(7-9)tCt>tGt p.S3C RP11-137J7.2_ENST00000454401.1_RNA NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 3 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) AAGAGACTTAGAGGGCATGAT 0.597000 14 25 0 0 0.575678 0 0 CHRNB4 1143 broad.mit.edu 37 15 78922018 78922018 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr15:78922018C>A ENST00000261751.3 - 5 740 c.629G>T c.(628-630)aGg>aTg p.R210M CHRNB4_ENST00000412074.2_Intron NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 210 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 GTTCACTGTCCTTCTCCCTGG 0.552000 67 100 1.22047e-21 1.63799e-21 0.870114 1 0 SLC6A19 340024 broad.mit.edu 37 5 1219713 1219713 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr5:1219713C>T ENST00000304460.10 + 10 1528 c.1472C>T c.(1471-1473)tCc>tTc p.S491F NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 491 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TATGCCGGCTCCATTCCCCTG 0.592000 30 80 0 0 0.750413 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098945 178098945 + Missense_Mutation SNP G G C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:178098945G>C ENST00000397062.3 - 2 654 c.100C>G c.(100-102)Cga>Gga p.R34G NFE2L2_ENST00000446151.2_Missense_Mutation_p.R18G|NFE2L2_ENST00000464747.1_Missense_Mutation_p.R18G|NFE2L2_ENST00000397063.4_Missense_Mutation_p.R18G|NFE2L2_ENST00000423513.1_Missense_Mutation_p.R18G NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 34 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R34G(4) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) AATACTTCTCGACTTACTCCA 0.368000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 18 7 0 0 0.557998 0 0 TRAV26-2 28656 broad.mit.edu 37 14 22671170 22671170 + RNA SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr14:22671170C>T ENST00000390460.1 + 0 235 AATGGCCTCTCTGGCAATCGC 0.493000 22 29 0 0 0.667858 0 0 SLC24A1 9187 broad.mit.edu 37 15 65918083 65918083 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr15:65918083G>T ENST00000261892.6 + 2 1952 c.1665G>T c.(1663-1665)tgG>tgT p.W555C SLC24A1_ENST00000546330.1_Missense_Mutation_p.W555C|SLC24A1_ENST00000339868.6_Missense_Mutation_p.W555C|SLC24A1_ENST00000544319.2_Missense_Mutation_p.W555C|SLC24A1_ENST00000399033.4_Missense_Mutation_p.W555C|SLC24A1_ENST00000537259.1_Missense_Mutation_p.W555C NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 555 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 ACCTCACCTGGTGGCCCTTAT 0.522000 47 65 1.21353e-23 1.67271e-23 0.870114 1 0 PCYT1A 5130 broad.mit.edu 37 3 195975136 195975136 + Silent SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr3:195975136G>A ENST00000292823.2 - 5 448 c.276C>T c.(274-276)caC>caT p.H92H PCYT1A_ENST00000431016.1_Silent_p.H92H|RP11-447L10.1_ENST00000431391.1_3'UTR|PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000419333.1_Silent_p.H92H NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 92 Catalytic (Potential). cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) GAGCTCGGGCGTGACCAGAGT 0.413000 4 107 0 0 0.217242 0 0 CDYL2 124359 broad.mit.edu 37 16 80646693 80646693 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr16:80646693C>T ENST00000570137.2 - 5 1203 c.1048G>A c.(1048-1050)Gtg>Atg p.V350M CDYL2_ENST00000566173.1_Missense_Mutation_p.V351M|CDYL2_ENST00000562812.1_Missense_Mutation_p.V351M|CDYL2_ENST00000563890.1_Missense_Mutation_p.V351M NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 ATGGCCACCACGATAGGCTTC 0.562000 27 55 0 0 0.760397 0 0 ANGPTL6 83854 broad.mit.edu 37 19 10206748 10206748 + Silent SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:10206748G>A ENST00000253109.4 - 2 730 c.492C>T c.(490-492)ttC>ttT p.F164F ANGPTL6_ENST00000592641.1_Silent_p.F164F|ANGPTL6_ENST00000589181.1_Silent_p.F164F NM_031917.2 NP_114123.2 Q8NI99 ANGL6_HUMAN angiopoietin-like 6 164 angiogenesis|cell differentiation|signal transduction extracellular space receptor binding endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1) 12 OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05) CCAGCTCGCGGAACTTGACGT 0.741000 11 12 0 0 0.575678 0 0 PIWIL3 440822 broad.mit.edu 37 22 25131817 25131817 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr22:25131817C>T ENST00000332271.5 - 13 1908 c.1492G>A c.(1492-1494)Gaa>Aaa p.E498K PIWIL3_ENST00000533313.1_Missense_Mutation_p.E389K|PIWIL3_ENST00000527701.1_Missense_Mutation_p.E389K|PIWIL3_ENST00000532537.2_5'UTR NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 498 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 AAGGGTAATTCTCTTATTTCT 0.373000 37 87 0 0 0.870114 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377931 125377931 + Missense_Mutation SNP G G A rs112809062 TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr9:125377931G>A ENST00000297913.2 + 1 984 c.915G>A c.(913-915)atG>atA p.M305I RP11-64P14.7_ENST00000431442.1_RNA NM_012364.1 NP_036496.1 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, member 1 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 TGAAATGGATGAGCAGAATGC 0.443000 32 24 0 0 0.804634 0 0 OR2A12 346525 broad.mit.edu 37 7 143793013 143793013 + Missense_Mutation SNP G G C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr7:143793013G>C ENST00000408949.2 + 1 873 c.813G>C c.(811-813)aaG>aaC p.K271N NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) AACGGAGGAAGATCCTTTCCC 0.522000 6 262 0 0 0.248553 0 0 LGR6 59352 broad.mit.edu 37 1 202205106 202205106 + Missense_Mutation SNP C C G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:202205106C>G ENST00000367278.3 + 4 502 c.413C>G c.(412-414)cCg>cGg p.P138R LGR6_ENST00000439764.2_Missense_Mutation_p.P95R|LGR6_ENST00000255432.7_Missense_Mutation_p.P86R NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 138 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 TGGGAGCTGCCGAGCCTGCAG 0.607000 3 56 0 0 0.115264 0 0 UGGT2 55757 broad.mit.edu 37 13 96579318 96579318 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr13:96579318C>A ENST00000376747.3 - 19 2234 c.2164G>T c.(2164-2166)Gta>Tta p.V722L NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 722 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TTTGCAATTACAGCACTCTTA 0.279000 4 13 0.0215528 0.0222809 0.217242 1 0 ISX 91464 broad.mit.edu 37 22 35463109 35463109 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr22:35463109G>A ENST00000308700.6 + 1 981 c.29G>A c.(28-30)tGc>tAc p.C10Y ISX_ENST00000404699.2_Missense_Mutation_p.C10Y|RP1-272J12.1_ENST00000448318.4_RNA NM_001008494.1 NP_001008494.1 Q2M1V0 ISX_HUMAN intestine-specific homeobox 10 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 CCTGCTCTCTGCAGGGGTATG 0.602000 22 24 0 0 0.706142 0 0 DIO3 1735 broad.mit.edu 37 14 102028171 102028171 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr14:102028171C>T ENST00000359323.3 + 1 484 c.260C>T c.(259-261)tCg>tTg p.S87L DIO3_ENST00000510508.4_Missense_Mutation_p.S113L NM_001362.3 NP_001353.4 P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 87 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) ACCCTGGCGTCGCTCAAGGCG 0.662000 6 73 0 0 0.248553 0 0 TNXB 7148 broad.mit.edu 37 6 32029938 32029938 + Silent SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr6:32029938C>A ENST00000375244.3 - 20 7365 c.7164G>T c.(7162-7164)gtG>gtT p.V2388V TNXB_ENST00000375247.2_Silent_p.V2388V P22105 TENX_HUMAN tenascin XB 2450 Fibronectin type-III 16. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 ACTCACCTGTCACCCCGATGG 0.627000 14 16 3.45872e-05 3.75308e-05 0.500413 1 0 SH3BP1 23616 broad.mit.edu 37 22 38061710 38061710 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr22:38061710G>T ENST00000599616.1 + 16 1650 c.1650G>T c.(1648-1650)gaG>gaT p.E550D PDXP_ENST00000215904.6_Missense_Mutation_p.E241D|PDXP_ENST00000403251.1_Missense_Mutation_p.E24D Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 0 signal transduction cytoplasm GTPase activator activity|SH3 domain binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) ACCGCCTGGAGACCGACATCC 0.647000 68 150 2.16659e-41 3.34836e-41 0.870114 1 0 MUC16 94025 broad.mit.edu 37 19 9085867 9085867 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:9085867G>A ENST00000397910.4 - 1 6151 c.5948C>T c.(5947-5949)tCc>tTc p.S1983F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1983 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGTTGAGTGGACTGTTCAAT 0.478000 58 34 0 0 0.870114 0 0 TPTE2 93492 broad.mit.edu 37 13 20012283 20012283 + Silent SNP C C T rs148526550 TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr13:20012283C>T ENST00000400230.2 - 14 1028 c.984G>A c.(982-984)ggG>ggA p.G328G TPTE2_ENST00000382975.4_Silent_p.G288G|TPTE2_ENST00000255310.6_Silent_p.G251G|TPTE2_ENST00000382978.1_Silent_p.G288G|TPTE2_ENST00000400103.2_Silent_p.G217G|TPTE2_ENST00000382977.4_Silent_p.G328G|TPTE2_ENST00000390680.2_Silent_p.G251G|TPTE2_ENST00000457266.2_Silent_p.G217G Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 328 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) AAACCATAGTCCCGGTTCttc 0.343000 5 65 0 0 0.307466 0 0 ZBTB43 23099 broad.mit.edu 37 9 129595162 129595162 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr9:129595162G>A ENST00000373464.4 + 3 638 c.374G>A c.(373-375)gGa>gAa p.G125E ZBTB43_ENST00000449886.1_Missense_Mutation_p.G125E|ZBTB43_ENST00000373457.1_Missense_Mutation_p.G125E NM_014007.3 NP_054726.1 O43298 ZBT43_HUMAN zinc finger and BTB domain containing 43 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 GTTTTAGAGGGAAACCCTACA 0.483000 15 24 0 0 0.520397 0 0 MKS1 54903 broad.mit.edu 37 17 56290434 56290434 + Missense_Mutation SNP T T C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:56290434T>C ENST00000393119.2 - 8 841 c.767A>G c.(766-768)gAg>gGg p.E256G MKS1_ENST00000546108.1_Missense_Mutation_p.E53G|MKS1_ENST00000337050.7_Missense_Mutation_p.E256G|MKS1_ENST00000537529.2_Missense_Mutation_p.E246G|MKS1_ENST00000313863.6_Missense_Mutation_p.E256G NM_017777.3 NP_060247.2 Q9NXB0 MKS1_HUMAN Meckel syndrome, type 1 256 cilium assembly centrosome|cilium|microtubule basal body protein binding endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 26 CTCCTGCTTCTCCCCCTCCGT 0.552000 3 117 0 0 0.248553 0 0 KRT8P12 90133 broad.mit.edu 37 3 160285923 160285923 + RNA SNP G G C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr3:160285923G>C ENST00000468527.1 + 0 934 CCAGGAGAAGGAGCAGATCAA 0.542000 29 60 0 0 0.760397 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644287 20644287 + RNA SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr15:20644287G>T ENST00000428453.1 - 0 3276 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 AGCGTGTGCAGCAGTGCCACC 0.632000 29 117 1.31171e-36 1.98704e-36 0.870114 1 0 XIRP2 129446 broad.mit.edu 37 2 168105238 168105238 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:168105238C>A ENST00000409195.1 + 9 7425 c.7336C>A c.(7336-7338)Ctg>Atg p.L2446M XIRP2_ENST00000409273.1_Missense_Mutation_p.L2224M|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2446M|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2271 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CAAAGTTGAACTGGCAACCTC 0.423000 41 59 9.58827e-17 1.20246e-16 0.870114 1 0 OR10Q1 219960 broad.mit.edu 37 11 57996150 57996150 + Silent SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr11:57996150G>A ENST00000316770.2 - 1 240 c.198C>T c.(196-198)ttC>ttT p.F66F NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) GGTTGGACAGGAAGAAATACA 0.532000 33 67 0 0 0.834066 0 0 GCFC2 6936 broad.mit.edu 37 2 75915023 75915023 + Silent SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:75915023C>T ENST00000321027.3 - 11 1753 c.1620G>A c.(1618-1620)aaG>aaA p.K540K GCFC2_ENST00000409857.3_Silent_p.K502K|MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000541687.1_3'UTR NM_001201334.1|NM_003203.4 NP_001188263.1|NP_003194.3 P16383 GCF_HUMAN GC-rich sequence DNA-binding factor 2 540 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TACTTTCCTTCTTTGAATCTT 0.338000 15 35 0 0 0.520397 0 0 EGF 1950 broad.mit.edu 37 4 110884383 110884383 + Missense_Mutation SNP C C A rs150311153 byFrequency TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr4:110884383C>A ENST00000265171.5 + 9 1812 c.1367C>A c.(1366-1368)cCa>cAa p.P456Q EGF_ENST00000509793.1_Missense_Mutation_p.P414Q|EGF_ENST00000503392.1_Missense_Mutation_p.P456Q NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 456 EGF-like 4. 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) CCTCTTAGCCCAGTATCCTGG 0.448000 83 19 8.84886e-50 1.39575e-49 0.870114 1 0 BTAF1 9044 broad.mit.edu 37 10 93751881 93751881 + Missense_Mutation SNP A A G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr10:93751881A>G ENST00000265990.6 + 21 3168 c.2860A>G c.(2860-2862)Acc>Gcc p.T954A NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 954 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) ATTAGGATCCACCTCAGAAAA 0.358000 14 27 0 0 0.457914 0 0 MYOM2 9172 broad.mit.edu 37 8 2040194 2040194 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr8:2040194C>T ENST00000262113.4 + 16 1990 c.1849C>T c.(1849-1851)Cgg>Tgg p.R617W MYOM2_ENST00000523438.1_Missense_Mutation_p.R42W NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 617 Fibronectin type-III 3. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TGCTCCGGGTCGGGTTCTTGC 0.547000 98 131 0 0 0.870114 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895231 24895231 + Missense_Mutation SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr13:24895231G>T ENST00000382071.2 + 4 412 c.327G>T c.(325-327)atG>atT p.M109I C1QTNF9_ENST00000332018.4_Missense_Mutation_p.M109I|C1QTNF9-AS1_ENST00000449656.1_RNA P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 109 Collagen-like 2. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) CAGGGCCCATGGGAGAGAAGG 0.582000 20 19 3.51602e-12 4.13808e-12 0.575678 1 0 NLRP6 171389 broad.mit.edu 37 11 281667 281667 + Missense_Mutation SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr11:281667G>A ENST00000534750.1 + 4 2138 c.1933G>A c.(1933-1935)Gcg>Acg p.A645T NLRP6_ENST00000312165.5_Missense_Mutation_p.A645T NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 645 cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CCCGGAGCTGGCGCTGCAGCG 0.647000 83 93 0 0 0.870114 0 0 RPL18A 6142 broad.mit.edu 37 19 17972200 17972200 + Silent SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:17972200C>A ENST00000600147.1 + 2 153 c.117C>A c.(115-117)gtC>gtA p.V39V RPL18A_ENST00000599898.1_Intron|RPL18A_ENST00000222247.5_Silent_p.V39V|RPL18A_ENST00000599870.1_Silent_p.V10V Q02543 RL18A_HUMAN ribosomal protein L18a 39 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1) 5 ATCATGTCGTCGCCAAGTCCC 0.552000 11 9 2.32078e-09 2.64985e-09 0.479597 1 0 MT-ND5 4540 broad.mit.edu 37 MT 12986 12986 + Missense_Mutation SNP T T C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chrM:12986T>C ENST00000361567.2 + 1 650 c.650T>C c.(649-651)cTc>cCc p.L217P P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 217 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) ACTAGGCCTCCTCCTAGCAGC 0.542000 10 0 0 0 0.435327 0 0 UGT2B4 7363 broad.mit.edu 37 4 70355258 70355258 + Missense_Mutation SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr4:70355258C>T ENST00000305107.6 - 3 947 c.901G>A c.(901-903)Gaa>Aaa p.E301K UGT2B4_ENST00000381096.3_Missense_Mutation_p.E165K|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.E301K NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 301 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 ACACCATTTTCTCCAGAGCTC 0.403000 69 16 0 0 0.870114 0 0 MAPK10 5602 broad.mit.edu 37 4 87022213 87022213 + Missense_Mutation SNP T T G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr4:87022213T>G ENST00000395169.3 - 8 1328 c.608A>C c.(607-609)aAg>aCg p.K203T MAPK10_ENST00000359221.3_Missense_Mutation_p.K241T|MAPK10_ENST00000395166.1_Missense_Mutation_p.K203T|MAPK10_ENST00000395161.2_Missense_Mutation_p.K241T|MAPK10_ENST00000449047.2_Missense_Mutation_p.K96T|MAPK10_ENST00000361569.2_Missense_Mutation_p.K241T|MAPK10_ENST00000395160.3_Missense_Mutation_p.K96T|MAPK10_ENST00000395157.3_Missense_Mutation_p.K96T NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 241 Protein kinase. 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) ACCGTTCTCCTTGTAGCCCAT 0.498000 39 11 0 0 0.870114 0 0 ARHGDIA 396 broad.mit.edu 37 17 79826899 79826899 + Silent SNP G G A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:79826899G>A ENST00000269321.7 - 6 603 c.468C>T c.(466-468)taC>taT p.Y156Y ARHGDIA_ENST00000581876.1_Silent_p.Y81Y|ARHGDIA_ENST00000541078.2_Silent_p.Y156Y|ARHGDIA_ENST00000584461.1_Silent_p.Y156Y|ARHGDIA_ENST00000400721.4_Intron|ARHGDIA_ENST00000580685.1_Silent_p.Y156Y NM_001185078.1|NM_004309.4 NP_001172007.1|NP_004300.1 P52565 GDIR1_HUMAN Rho GDP dissociation inhibitor (GDI) alpha 156 anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoskeleton|cytosol GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity endometrium(1)|lung(1)|prostate(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TCAGGAACTCGTACTCCTCGG 0.652000 21 24 0 0 0.667858 0 0 ZNF536 9745 broad.mit.edu 37 19 31040189 31040189 + Silent SNP G G T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:31040189G>T ENST00000355537.3 + 4 3810 c.3663G>T c.(3661-3663)ctG>ctT p.L1221L NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TCCAGGGACTGGTCTCACCTT 0.647000 25 26 4.62619e-21 6.10178e-21 0.796494 1 0 COL11A1 1301 broad.mit.edu 37 1 103461428 103461428 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr1:103461428C>A ENST00000358392.2 - 28 2685 c.2368G>T c.(2368-2370)Ggt>Tgt p.G790C COL11A1_ENST00000512756.1_Missense_Mutation_p.G662C|COL11A1_ENST00000353414.4_Missense_Mutation_p.G739C|COL11A1_ENST00000370096.3_Missense_Mutation_p.G778C NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 778 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACCTTTTCACCTTTAGATCCC 0.269000 52 40 8.52622e-23 1.16474e-22 0.870114 1 0 ZNF638 27332 broad.mit.edu 37 2 71651159 71651159 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr2:71651159C>A ENST00000409544.1 + 22 5145 c.4515C>A c.(4513-4515)agC>agA p.S1505R ZNF638_ENST00000409407.1_Missense_Mutation_p.S445R|ZNF638_ENST00000264447.4_Missense_Mutation_p.S1505R|ZNF638_ENST00000355812.3_Intron NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 1505 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 GGGATGACAGCAACAATAAGG 0.433000 15 28 8.28177e-16 1.03017e-15 0.557998 1 0 NOVA2 4858 broad.mit.edu 37 19 46443268 46443268 + Silent SNP C C T TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr19:46443268C>T ENST00000263257.5 - 4 1526 c.1332G>A c.(1330-1332)aaG>aaA p.K444K NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 444 KH 3. nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) ACTCGCCCTTCTTGGAGATCT 0.657000 68 118 0 0 0.870114 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 3 136 0 0 0.184627 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33614431 33614431 + Missense_Mutation SNP C C A TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr5:33614431C>A ENST00000504830.1 - 16 2774 c.2439G>T c.(2437-2439)caG>caT p.Q813H ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q728H NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 813 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GGCCATCTTTCTGGATTGTGT 0.478000 HNSCC(64;0.19) 21 72 3.1745e-13 3.79452e-13 0.729181 1 0 OGDH 4967 broad.mit.edu 37 7 44684936 44684936 + Frame_Shift_Del DEL T T - TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr7:44684936delT ENST00000222673.5 + 3 275 c.233delT c.(232-234)attfs p.I78fs OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 78 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.R81fs*19(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TCATGGGACATTTTTTTTCGC 0.577 7 245 --- --- --- --- RBM33 155435 broad.mit.edu 37 7 155531073 155531074 + Frame_Shift_Del DEL CA CA - TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr7:155531073_155531074delCA ENST00000401878.3 + 11 1911_1912 c.1713_1714delCA c.(1711-1716)cccacafs p.T572fs NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 572 Pro-rich. nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CGTTTCTGCCCACACACACACA 0.530 7 113 --- --- --- --- PCM1 5108 broad.mit.edu 37 8 17868136 17868137 + Frame_Shift_Ins INS - - TC TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr8:17868136_17868137insTC ENST00000325083.8 + 32 5618_5619 c.5179_5180insTC c.(5179-5181)gatfs p.D1727fs PCM1_ENST00000524226.1_Frame_Shift_Ins_p.D1673fs|PCM1_ENST00000327578.8_Frame_Shift_Ins_p.D426fs|PCM1_ENST00000519253.1_Frame_Shift_Ins_p.D1719fs NM_006197.3 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 1727 Interaction with HAP1. centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) GATTCTTGAAGATCATGGCTCA 0.386 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 12 15 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49420342 49420343 + Frame_Shift_Ins INS - - GC TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr12:49420342_49420343insGC ENST00000301067.7 - 48 15405_15406 c.15406_15407insGC c.(15406-15408)catfs p.H5136fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CTTGATCTTATGCATTGGACAC 0.520 53 76 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49447042 49447042 + Frame_Shift_Del DEL A A - TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr12:49447042delA ENST00000301067.7 - 7 901 c.902delT c.(901-903)ttcfs p.F301fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TTTTAGGCAGAAAGTATGGTA 0.488 92 117 --- --- --- --- KRT84 3890 broad.mit.edu 37 12 52771821 52771822 + Frame_Shift_Ins INS - - TA TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr12:52771821_52771822insTA ENST00000257951.3 - 9 1865_1866 c.1799_1800insTA c.(1798-1800)tacfs p.Y600fs NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 600 Tail. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TGGGCTCTCAGTACTTGGTCCG 0.688 4 7 --- --- --- --- HDC 3067 broad.mit.edu 37 15 50557790 50557791 + Splice_Site DEL CT CT - TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr15:50557790_50557791delCT ENST00000267845.3 - 1 432_433 c.30_31delAG c.(28-33)agaggg>aggg p.G11fs HDC_ENST00000543581.1_Splice_Site_p.G11fs NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 11 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CGTTGCTCACCTCTCTCTCTGT 0.599 8 80 --- --- --- --- ZNF598 90850 broad.mit.edu 37 16 2049881 2049883 + In_Frame_Del DEL CGT CGT - rs61746014 by1000genomes TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr16:2049881_2049883delCGT ENST00000563630.1 - 9 1744_1746 c.1502_1504delACG c.(1501-1506)gacggc>ggc p.D501del ZNF598_ENST00000431526.1_In_Frame_Del_p.D556del|ZNF598_ENST00000562103.1_In_Frame_Del_p.D501del Q86UK7 ZN598_HUMAN zinc finger protein 598 556 intracellular zinc ion binding p.E555_D556insE(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 GCCGGGCCGCCGTCCTCCTCCTC 0.700 2 4 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5472546 5472546 + RNA DEL C C - rs141469541 by1000genomes TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr16:5472546delC ENST00000569895.1 + 0 304 atgaggggggcagggaggggg 0.632 5 2 --- --- --- --- SMG1P7 100506060 broad.mit.edu 37 16 70255130 70255130 + RNA DEL A A - TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr16:70255130delA ENST00000581050.1 - 0 1436 NR_033959.1 TACACAATGTACATTTATCTC 0.358 2 4 --- --- --- --- GJD3 125111 broad.mit.edu 37 17 38519337 38519339 + In_Frame_Del DEL GGC GGC - TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:38519337_38519339delGGC ENST00000578774.1 + 2 486_488 c.149_151delGGC c.(148-153)tggcgg>tgg p.R55del GJD3_ENST00000337376.4_Splice_Site_p.243_244PP>P|GJD3_ENST00000578689.1_In_Frame_Del_p.243_244PP>P tggcggaggtggcggcggcggcg 0.803 2 4 --- --- --- --- GRIN2C 2905 broad.mit.edu 37 17 72839417 72839418 + Frame_Shift_Ins INS - - G TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr17:72839417_72839418insG ENST00000293190.5 - 13 3004_3005 c.2858_2859insC c.(2857-2859)ccafs p.P953fs NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 953 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) GGCTCGGCTCTGGGGGCGGGTC 0.817 2 4 --- --- --- --- LOC727993 727993 broad.mit.edu 37 20 1978465 1978466 + RNA DEL TC TC - TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr20:1978465_1978466delTC ENST00000446562.1 + 0 1216 GTGCTCATCAtctctctctctc 0.540 2 4 --- --- --- --- TMEM191A 84222 broad.mit.edu 37 22 21057064 21057076 + RNA DEL AGGATCCGGGGGT AGGATCCGGGGGT - TCGA-G2-A3IB-01A-11D-A20D-08 TCGA-G2-A3IB-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1325348c-64b8-4be6-a078-8fac1b3bb44f bbfeacc2-2b94-4c15-aa40-aa9c17508834 g.chr22:21057064_21057076delAGGATCCGGGGGT ENST00000450925.2 + 0 1317 NR_026815.1 ggaagggggcaggatccgggggtggggtgaggt 0.709 2 4 --- --- --- ---