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 GLP2R 9340 broad.mit.edu 37 17 9792853 9792853 + Missense_Mutation SNP A A G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr17:9792853A>G ENST00000262441.5 + 13 2006 c.1493A>G c.(1492-1494)aAc>aGc p.N498S GLP2R_ENST00000574745.1_Missense_Mutation_p.N318S NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 498 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane p.N498S(1) endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) CCCTCACTTAACAGTGGGCGG 0.622000 8 50 0 0 0.006214 0 0 C3orf14 57415 broad.mit.edu 37 3 62317051 62317051 + Missense_Mutation SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr3:62317051C>T ENST00000494481.1 + 5 543 c.229C>T c.(229-231)Cgg>Tgg p.R77W C3orf14_ENST00000462069.1_Missense_Mutation_p.R77W|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000542214.1_Missense_Mutation_p.R77W|C3orf14_ENST00000232519.5_Missense_Mutation_p.R77W Q9HBI5 CC014_HUMAN chromosome 3 open reading frame 14 77 p.R77W(1) central_nervous_system(1)|large_intestine(1)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101) CCCACTTCCACGGCCTGAGGT 0.388000 30 142 0 0 0.003755 0 0 FRG1B 284802 broad.mit.edu 37 20 29614328 29614328 + Splice_Site SNP G G A rs137860963 by1000genomes TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr20:29614328G>A ENST00000278882.3 + 2 320 c.e2+1 FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGATACGTTGGTGAGTCAGTT 0.289000 5 59 0 0 0.000602 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136323143 136323143 + Missense_Mutation SNP C C G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr9:136323143C>G ENST00000371929.3 + 28 4448 c.4004C>G c.(4003-4005)gCa>gGa p.A1335G ADAMTS13_ENST00000356589.2_Missense_Mutation_p.A1248G|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.A1279G|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.A131G NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1335 CUB 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding p.A1335G(1) central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GCTCCGCACGCACGGATTGCC 0.622000 4 33 0 0 0.009096 0 0 USH2A 7399 broad.mit.edu 37 1 215956216 215956216 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:215956216C>T ENST00000366943.2 - 53 10835 c.10449G>A c.(10447-10449)ggG>ggA p.G3483G USH2A_ENST00000307340.3_Silent_p.G3483G O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3483 Fibronectin type-III 19. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.G3483G(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGAGTCCTCGCCCATAGCTGT 0.443000 HNSCC(13;0.011) 8 68 0 0 0.004482 0 0 LPCAT4 254531 broad.mit.edu 37 15 34653713 34653713 + Missense_Mutation SNP T T C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr15:34653713T>C ENST00000314891.6 - 11 1208 c.1031A>G c.(1030-1032)gAc>gGc p.D344G NM_153613.2 NP_705841.2 Q643R3 LPCT4_HUMAN lysophosphatidylcholine acyltransferase 4 344 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding p.D344G(1) NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1) 10 TGCCCCAGCGTCCACATAGCC 0.577000 7 41 0 0 0.004482 0 0 ATXN1 6310 broad.mit.edu 37 6 16327605 16327605 + Missense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr6:16327605G>A ENST00000244769.4 - 8 1873 c.937C>T c.(937-939)Cgg>Tgg p.R313W ATXN1_ENST00000436367.1_Missense_Mutation_p.R313W NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 313 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association p.R313W(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) TGCTGCAGCCGGCTGCTCTCA 0.677000 16 77 0 0 0.006122 0 0 VANGL1 81839 broad.mit.edu 37 1 116233804 116233804 + Missense_Mutation SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:116233804C>T ENST00000355485.2 + 8 1650 c.1379C>T c.(1378-1380)tCt>tTt p.S460F VANGL1_ENST00000369509.1_Missense_Mutation_p.S460F|VANGL1_ENST00000369510.3_Missense_Mutation_p.S458F|VANGL1_ENST00000310260.3_Missense_Mutation_p.S460F NM_001172411.1|NM_138959.2 NP_001165882.1|NP_620409.1 Q8TAA9 VANG1_HUMAN VANGL planar cell polarity protein 1 460 multicellular organismal development integral to membrane protein binding p.S460F(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1) 27 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CGCTGGCTCTCTACACAGTGG 0.522000 15 38 0 0 0.002450 0 0 PREX1 57580 broad.mit.edu 37 20 47296209 47296209 + Missense_Mutation SNP G G C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr20:47296209G>C ENST00000396220.1 - 12 1541 c.1519C>G c.(1519-1521)Ctg>Gtg p.L507V PREX1_ENST00000371941.3_Missense_Mutation_p.L507V Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 507 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.L507V(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) ATGTCCTCCAGCTCACTTCGG 0.592000 25 70 0 0 0.007291 0 0 KAT6B 23522 broad.mit.edu 37 10 76790413 76790413 + Missense_Mutation SNP A A G rs143966521 TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr10:76790413A>G ENST00000287239.4 + 18 6320 c.5831A>G c.(5830-5832)tAt>tGt p.Y1944C KAT6B_ENST00000372725.1_Missense_Mutation_p.Y1652C|KAT6B_ENST00000372724.1_Missense_Mutation_p.Y1652C|KAT6B_ENST00000372711.1_Missense_Mutation_p.Y1761C|KAT6B_ENST00000372714.1_Missense_Mutation_p.Y1652C NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1944 Interaction with RUNX1 and RUNX2. 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 p.Y1944C(1) TCACAAATCTATGGGCGCTCC 0.552000 21 107 0 0 0.012319 0 0 ARMC4 55130 broad.mit.edu 37 10 28233185 28233185 + Missense_Mutation SNP C C T rs140569195 byFrequency TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr10:28233185C>T ENST00000305242.5 - 12 1801 c.1709G>A c.(1708-1710)cGg>cAg p.R570Q ARMC4_ENST00000545014.1_Missense_Mutation_p.R95Q|ARMC4_ENST00000537576.1_Missense_Mutation_p.R262Q NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 570 binding p.R570Q(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CCTCACCACCCGCCGTGCTCT 0.498000 12 36 0 0 0.013537 0 0 PLXNA4 91584 broad.mit.edu 37 7 131859563 131859563 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr7:131859563C>A ENST00000359827.3 - 21 4953 c.3991G>T c.(3991-3993)Gac>Tac p.D1331Y PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1331Y Q9HCM2 PLXA4_HUMAN plexin A4 1331 integral to membrane|intracellular|plasma membrane p.D1331Y(2) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 ACAGGGTGGTCTTCAATTCCT 0.557000 34 64 1.04352e-10 2.25226e-10 0.003755 1 0 SPEF2 79925 broad.mit.edu 37 5 35740120 35740120 + Missense_Mutation SNP A A G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:35740120A>G ENST00000440995.2 + 22 3148 c.3148A>G c.(3148-3150)Act>Gct p.T1050A SPEF2_ENST00000356031.3_Missense_Mutation_p.T1055A|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 1055 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity p.T1055A(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGACCAGCATACTGTGCTTGC 0.333000 16 83 0 0 0.004990 0 0 PDE6A 5145 broad.mit.edu 37 5 149286942 149286942 + Splice_Site SNP C C G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:149286942C>G ENST00000255266.5 - 7 1118 c.e7-1 NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.?(1) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AGGTGGATTCCTGTGAAGGCC 0.498000 11 71 0 0 0.008291 0 0 GNL2 29889 broad.mit.edu 37 1 38059394 38059394 + Missense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:38059394G>A ENST00000373062.3 - 2 216 c.118C>T c.(118-120)Cgc>Tgc p.R40C NM_013285.2 NP_037417.1 Q13823 NOG2_HUMAN guanine nucleotide binding protein-like 2 (nucleolar) 40 ribosome biogenesis nucleolus GTP binding|GTPase activity|protein binding p.R40C(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 30 Myeloproliferative disorder(586;0.0393) ATATTCAGGCGCCGGATGGTG 0.512000 6 136 0 0 0.003080 0 0 TRMT13 54482 broad.mit.edu 37 1 100614308 100614308 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:100614308G>T ENST00000370141.2 + 11 1384 c.1378G>T c.(1378-1380)Gtg>Ttg p.V460L NM_019083.2 NP_061956.2 tRNA methyltransferase 13 homolog (S. cerevisiae) p.V460L(1) AGACCCTCTGGTGTCTTTGGA 0.393000 7 45 8.12818e-05 0.000137595 0.001984 1 0 WDR33 55339 broad.mit.edu 37 2 128481960 128481960 + Silent SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:128481960C>A ENST00000322313.4 - 11 1301 c.1143G>T c.(1141-1143)ctG>ctT p.L381L NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 381 postreplication repair|spermatogenesis collagen|nucleus protein binding p.L381L(1) NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GATGCCAAGCCAGACTCCAGA 0.448000 13 87 1.5842e-08 3.13212e-08 0.001855 1 0 OR10G2 26534 broad.mit.edu 37 14 22102089 22102089 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr14:22102089G>T ENST00000542433.1 - 1 1007 c.910C>A c.(910-912)Ctg>Atg p.L304M NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L304M(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) ATCCTCTTCAGGGCAGACTTC 0.473000 21 143 2.44723e-14 5.81498e-14 0.004656 1 0 STX12 23673 broad.mit.edu 37 1 28144414 28144414 + Missense_Mutation SNP A A C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:28144414A>C ENST00000373943.4 + 7 754 c.629A>C c.(628-630)cAt>cCt p.H210P NM_177424.2 NP_803173.1 Q86Y82 STX12_HUMAN syntaxin 12 210 t-SNARE coiled-coil homology. cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle SNAP receptor activity p.H210P(1) breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3) 8 Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649) ATGATGATCCATGACCAGGGT 0.363000 9 45 0 0 0.008291 0 0 STK32C 282974 broad.mit.edu 37 10 134038741 134038741 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr10:134038741C>A ENST00000368622.1 - 7 902 c.521G>T c.(520-522)gGa>gTa p.G174V STK32C_ENST00000368625.4_Missense_Mutation_p.G304V Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 291 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity p.G291V(1)|p.G304V(1) breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1) 23 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) CCATACCCATCCTCGCAGCAG 0.667000 5 14 0.000602214 0.000987174 0.000602 1 0 CADM3 57863 broad.mit.edu 37 1 159170598 159170598 + Silent SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:159170598C>A ENST00000368125.4 + 9 1240 c.1083C>A c.(1081-1083)acC>acA p.T361T CADM3_ENST00000368124.4_Silent_p.T395T|CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 361 adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity p.T395T(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) ACACAGGAACCTACCTGACAC 0.582000 35 61 1.26612e-14 3.03634e-14 0.003271 1 0 LCP1 3936 broad.mit.edu 37 13 46716467 46716467 + Missense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr13:46716467G>A ENST00000398576.2 - 16 1850 c.1462C>T c.(1462-1464)Cgc>Tgc p.R488C LCP1_ENST00000435666.2_Missense_Mutation_p.R57C|LCP1_ENST00000323076.2_Missense_Mutation_p.R488C P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 488 Actin-binding 2.|CH 3. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding p.R488C(1) breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.39e-05) GTGAGAGTGCGGTTTCCTTCA 0.413000 T BCL6 NHL 6 118 0 0 0.001168 0 0 CD163L1 283316 broad.mit.edu 37 12 7548699 7548699 + Missense_Mutation SNP A A G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:7548699A>G ENST00000313599.3 - 8 2099 c.2042T>C c.(2041-2043)aTc>aCc p.I681T CD163L1_ENST00000396630.1_Missense_Mutation_p.I681T|CD163L1_ENST00000416109.2_Missense_Mutation_p.I691T Q9NR16 C163B_HUMAN CD163 molecule-like 1 681 SRCR 6. extracellular region|integral to membrane|plasma membrane scavenger receptor activity p.I681T(1) breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 ACCAGAACAGATCACTCCAAC 0.443000 4 44 0 0 0.001168 0 0 TJP1 7082 broad.mit.edu 37 15 30092877 30092877 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr15:30092877C>A ENST00000346128.6 - 2 530 c.56G>T c.(55-57)tGg>tTg p.W19L TJP1_ENST00000400011.2_Missense_Mutation_p.W23L|TJP1_ENST00000356107.6_Missense_Mutation_p.W19L|TJP1_ENST00000545208.2_Missense_Mutation_p.W19L|TJP1_ENST00000495972.2_Missense_Mutation_p.W19L NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 19 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction p.W19L(1) breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) ATGTTGTTCCCATATAGCTGT 0.368000 5 95 1.024e-07 1.96456e-07 0.000602 1 0 TTC37 9652 broad.mit.edu 37 5 94865853 94865853 + Missense_Mutation SNP A A C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:94865853A>C ENST00000358746.2 - 11 1130 c.832T>G c.(832-834)Tta>Gta p.L278V NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 278 binding p.L278V(1) breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 TTAATGCCTAAGCCAATGAGG 0.378000 20 47 0 0 0.010504 0 0 TNR 7143 broad.mit.edu 37 1 175375611 175375611 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:175375611G>T ENST00000367674.1 - 3 948 c.240C>A c.(238-240)tcC>tcA p.S80S TNR_ENST00000263525.2_Silent_p.S80S NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 80 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.S80S(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CTAGCCCTGAGGAGCAGAGGT 0.562000 39 79 1.90571e-15 4.61288e-15 0.004289 1 0 DNAH5 1767 broad.mit.edu 37 5 13721350 13721350 + Missense_Mutation SNP C C G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:13721350C>G ENST00000265104.4 - 71 12142 c.12038G>C c.(12037-12039)cGc>cCc p.R4013P NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4013 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R4013P(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GATGTACTTGCGGGCCTGCCA 0.413000 Kartagener syndrome 6 64 0 0 0.001168 0 0 DNAH7 56171 broad.mit.edu 37 2 196636407 196636407 + Missense_Mutation SNP C C A rs113133988 TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:196636407C>A ENST00000312428.6 - 61 11510 c.11410G>T c.(11410-11412)Gta>Tta p.V3804L DNAH7_ENST00000409063.1_Missense_Mutation_p.V287L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3804 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.V3804L(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TGAATATTTACGCACGAATCT 0.353000 21 138 1.10513e-12 2.533e-12 0.014323 1 0 ADAMTS18 170692 broad.mit.edu 37 16 77369710 77369710 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr16:77369710C>A ENST00000282849.5 - 12 2220 c.1802G>T c.(1801-1803)tGt>tTt p.C601F NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 601 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.C601F(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TGTCCGGGAACATTCTGACCA 0.562000 88 138 4.64247e-43 1.2929e-42 0.014410 1 0 CCKBR 887 broad.mit.edu 37 11 6292297 6292297 + Missense_Mutation SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:6292297A>T ENST00000525462.1 + 4 1078 c.1075A>T c.(1075-1077)Agc>Tgc p.S359C CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000334619.2_Missense_Mutation_p.S290C|CCKBR_ENST00000532715.1_Missense_Mutation_p.S206C P32239 GASR_HUMAN cholecystokinin B receptor 290 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding p.S359C(1)|p.S290C(1) NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) TGGCGAAGACAGCGATGGCTG 0.687000 13 65 0 0 0.004007 0 0 LAMA1 284217 broad.mit.edu 37 18 6959354 6959354 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr18:6959354C>A ENST00000389658.3 - 54 7857 c.7764G>T c.(7762-7764)ttG>ttT p.L2588F NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2588 Laminin G-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding p.L2588F(1) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GATTCCTGACCAAGGAGATGG 0.582000 20 90 8.10497e-08 1.56656e-07 0.010504 1 0 TAS1R2 80834 broad.mit.edu 37 1 19168239 19168239 + Silent SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:19168239G>A ENST00000375371.3 - 5 1596 c.1575C>T c.(1573-1575)ttC>ttT p.F525F NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 525 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity p.F525F(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TGTGGTTGAGGAAGGTGCCGG 0.597000 13 52 0 0 0.013537 0 0 ITLN1 55600 broad.mit.edu 37 1 160850401 160850401 + Missense_Mutation SNP G G C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:160850401G>C ENST00000326245.3 - 6 777 c.662C>G c.(661-663)tCt>tGt p.S221C ITLN1_ENST00000487531.1_5'UTR NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 221 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding p.S221C(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TGAGTAATAAGATGCTGTTTT 0.448000 65 257 0 0 0.014410 0 0 HAGH 3029 broad.mit.edu 37 16 1859417 1859417 + Silent SNP C C G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr16:1859417C>G ENST00000566709.1 - 9 998 c.714G>C c.(712-714)tcG>tcC p.S238S HAGH_ENST00000397353.2_Intron|HAGH_ENST00000397356.3_Intron|HAGH_ENST00000567398.1_Intron|HAGH_ENST00000455446.2_Intron Q16775 GLO2_HUMAN hydroxyacylglutathione hydrolase 0 glutathione biosynthetic process cytoplasm|mitochondrial matrix hydroxyacylglutathione hydrolase activity|zinc ion binding kidney(2)|lung(1)|ovary(1)|skin(1) 5 Hepatocellular(780;0.00335) Glutathione(DB00143) CAGGCTGTGCCGAGCCACGCC 0.731000 3 21 0 0 0.004672 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178552041 178552041 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:178552041G>T ENST00000251582.7 - 19 2992 c.2891C>A c.(2890-2892)cCc>cAc p.P964H NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 964 TSP type-1 3. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.P964H(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GCGGCTCTCGGGCCGGGCGTC 0.706000 28 72 8.88839e-20 2.2793e-19 0.010818 1 0 HIST1H3G 8355 broad.mit.edu 37 6 26271476 26271476 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr6:26271476G>T ENST00000305910.3 - 1 136 c.137C>A c.(136-138)aCc>aAc p.T46N NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 46 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding p.T46N(1) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 CAGAGCCACGGTGCCGGGACG 0.637000 14 69 2.23348e-06 4.07375e-06 0.004007 1 0 THUMPD2 80745 broad.mit.edu 37 2 39988520 39988520 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:39988520C>A ENST00000505747.1 - 6 869 c.842G>T c.(841-843)gGa>gTa p.G281V THUMPD2_ENST00000454352.2_3'UTR|THUMPD2_ENST00000260619.6_Missense_Mutation_p.G251V NM_025264.4 NP_079540.2 Q9BTF0 THUM2_HUMAN THUMP domain containing 2 281 methyltransferase activity p.G251V(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1) 17 all_hematologic(82;0.248) AGATCGCAGTCCAGCTGTCTT 0.363000 25 233 1.12875e-08 2.26625e-08 0.006320 1 0 SYNGR1 9145 broad.mit.edu 37 22 39770447 39770447 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr22:39770447G>T ENST00000328933.5 + 2 241 c.226G>T c.(226-228)Gtg>Ttg p.V76L SYNGR1_ENST00000406293.3_Missense_Mutation_p.V76L|SYNGR1_ENST00000381535.4_Missense_Mutation_p.V77L|SYNGR1_ENST00000216155.7_Missense_Mutation_p.V76L|SYNGR1_ENST00000318801.4_Missense_Mutation_p.V76L NM_004711.4 NP_004702.2 synaptogyrin 1 p.V76L(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 7 Melanoma(58;0.04) GGCCGTGGGCGTGCTCGCCTT 0.627000 8 56 0.000157383 0.000262982 0.003080 1 0 TRBV28 28559 broad.mit.edu 37 7 142428727 142428727 + RNA SNP T T C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr7:142428727T>C ENST00000390400.2 + 0 107 GCTCGAGATATCTAGTCAAAA 0.468000 5 35 0 0 0.000602 0 0 CSMD2 114784 broad.mit.edu 37 1 34092172 34092172 + Missense_Mutation SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:34092172A>T ENST00000373381.4 - 33 5386 c.5210T>A c.(5209-5211)cTg>cAg p.L1737Q CSMD2_ENST00000373380.1_Missense_Mutation_p.L610Q|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_5'UTR NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1697 Sushi 10. integral to membrane|plasma membrane protein binding p.L1697Q(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGCCAAGGGCAGTGATTCTCC 0.557000 6 18 0 0 0.001984 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138713008 138713008 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr9:138713008C>A ENST00000389532.4 - 11 3563 c.3499G>T c.(3499-3501)Gac>Tac p.D1167Y CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.D1178Y|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.D889Y NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 1167 cytoplasm|microtubule p.D1167Y(1) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CTGTAACTGTCGAAGAGACAC 0.567000 17 118 1.56452e-12 3.55449e-12 0.007413 1 0 WDR90 197335 broad.mit.edu 37 16 716793 716793 + Splice_Site SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr16:716793G>T ENST00000549091.1 + 39 5102 c.e39+1 WDR90_ENST00000293879.4_Splice_Site|WDR90_ENST00000315764.4_Splice_Site|WDR90_ENST00000547944.1_Splice_Site NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 p.?(1) endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) CCAGAAGCAGGTACACGCAGC 0.657000 24 55 2.24059e-21 5.92157e-21 0.006320 1 0 OR10A3 26496 broad.mit.edu 37 11 7960402 7960402 + Silent SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:7960402C>A ENST00000360759.3 - 1 739 c.666G>T c.(664-666)ctG>ctT p.L222L NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L222L(1) endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGATGGCAAACAGAACTCGAA 0.453000 8 40 0.00307968 0.00489348 0.003080 1 0 CASC10 399726 broad.mit.edu 37 10 21784774 21784774 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr10:21784774G>T ENST00000377113.5 - 2 613 c.166C>A c.(166-168)Ccg>Acg p.P56T NM_001010911.2 NP_001010911.1 cancer susceptibility candidate 10 p.P56T(1) GAGGCGCCCGGCACCTGCAGG 0.786000 OREG0020066 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 8 5.18039e-06 9.31751e-06 0.003080 1 0 RYR2 6262 broad.mit.edu 37 1 237880622 237880622 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:237880622C>A ENST00000366574.2 + 72 10765 c.10448C>A c.(10447-10449)cCt>cAt p.P3483H RYR2_ENST00000542537.1_Missense_Mutation_p.P3467H|RYR2_ENST00000360064.6_Missense_Mutation_p.P3481H NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3483 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.P3481H(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATCTGTGCCCCTGGGGACCAG 0.498000 21 25 1.28384e-07 2.40952e-07 0.012319 1 0 KIF3C 3797 broad.mit.edu 37 2 26151869 26151869 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:26151869G>T ENST00000264712.3 - 8 2939 c.2360C>A c.(2359-2361)gCa>gAa p.A787E KIF3C_ENST00000405914.1_Missense_Mutation_p.A787E NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 787 Globular (Potential). blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity p.A787E(1) breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGCCACTGTTGCAGGGCGCAG 0.622000 12 95 1.99824e-07 3.72333e-07 0.004990 1 0 OR5K1 26339 broad.mit.edu 37 3 98188897 98188897 + Missense_Mutation SNP T T A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr3:98188897T>A ENST00000332650.5 + 1 574 c.477T>A c.(475-477)caT>caA p.H159Q NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H159Q(1) breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CCATGATTCATGTAGGGCTTG 0.423000 32 252 0 0 0.012213 0 0 NLRP6 171389 broad.mit.edu 37 11 280512 280512 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:280512C>A ENST00000534750.1 + 4 983 c.778C>A c.(778-780)Cgc>Agc p.R260S NLRP6_ENST00000312165.5_Missense_Mutation_p.R260S NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 260 NACHT. cytoplasm ATP binding p.R260S(1) 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) GTGCCCCGACCGCGGCGCGCC 0.751000 3 9 0.004672 0.00733362 0.004672 1 0 ESRRG 2104 broad.mit.edu 37 1 216850479 216850479 + Silent SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:216850479C>A ENST00000391890.3 - 4 859 c.342G>T c.(340-342)ggG>ggT p.G114G ESRRG_ENST00000366938.2_Silent_p.G114G|ESRRG_ENST00000408911.3_Silent_p.G137G|ESRRG_ENST00000359162.2_Silent_p.G114G|ESRRG_ENST00000361395.2_Silent_p.G114G|ESRRG_ENST00000361525.3_Silent_p.G114G|ESRRG_ENST00000493603.1_Silent_p.G114G|ESRRG_ENST00000360012.3_Silent_p.G114G|ESRRG_ENST00000463665.1_Silent_p.G114G|ESRRG_ENST00000366940.2_Silent_p.G114G|ESRRG_ENST00000366937.1_Silent_p.G142G|ESRRG_ENST00000487276.1_Silent_p.G114G|ESRRG_ENST00000493748.1_Silent_p.G114G NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 137 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.G137G(2) endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CATAGTGGTACCCAGAAGCGA 0.498000 21 117 1.28384e-07 2.40952e-07 0.012319 1 0 LOC440040 440040 broad.mit.edu 37 11 49805552 49805552 + RNA SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:49805552G>A ENST00000527477.1 + 0 1240 TTCTGTGAGGGCATGACGGTG 0.517000 4 75 0 0 0.009096 0 0 NPAP1 23742 broad.mit.edu 37 15 24924482 24924482 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr15:24924482G>T ENST00000329468.2 + 1 3942 c.3468G>T c.(3466-3468)ccG>ccT p.P1156P NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.P1156P(1) TCCAACTTCCGTAAGAGCACC 0.423000 7 51 5.18039e-06 9.31751e-06 0.003080 1 0 SYT16 83851 broad.mit.edu 37 14 62567300 62567300 + Nonsense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr14:62567300G>T ENST00000430451.2 + 6 2010 c.1813G>T c.(1813-1815)Gag>Tag p.E605* NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 605 C2 2. p.E585*(1)|p.E605*(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GAAGCGTAAAGAGATGATTGG 0.488000 7 30 0.00307968 0.00489348 0.003080 1 0 ATM 472 broad.mit.edu 37 11 108205768 108205768 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:108205768G>T ENST00000278616.4 + 55 8468 c.8083G>T c.(8083-8085)Ggt>Tgt p.G2695C ATM_ENST00000452508.2_Missense_Mutation_p.G2695C|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2695 G -> A (in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.G2695S(4)|p.G2695C(2) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CTTAGCAGGAGGTGTAAATTT 0.398000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 31 58 3.00307e-07 5.51627e-07 0.008361 1 0 TMEM177 80775 broad.mit.edu 37 2 120438630 120438630 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:120438630G>T ENST00000424086.1 + 2 674 c.201G>T c.(199-201)gaG>gaT p.E67D TMEM177_ENST00000409951.1_Missense_Mutation_p.E67D|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.E67D|TMEM177_ENST00000272521.6_Missense_Mutation_p.E67D NM_001105198.1 NP_001098668.1 Q53S58 TM177_HUMAN transmembrane protein 177 67 integral to membrane p.E67D(1) breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(110;0.196) TCTTCCAAGAGGTGCTACAGG 0.592000 65 150 1.34159e-35 3.69652e-35 0.014410 1 0 GGN 199720 broad.mit.edu 37 19 38876275 38876275 + Missense_Mutation SNP A A C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:38876275A>C ENST00000334928.6 - 3 1759 c.1627T>G c.(1627-1629)Ttg>Gtg p.L543V GGN_ENST00000591809.1_Intron|AC005789.9_ENST00000585411.1_RNA NM_152657.3 NP_689870.3 Q86UU5 GGN_HUMAN gametogenetin 543 Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity). cell differentiation|multicellular organismal development|spermatogenesis p.L543V(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCTCCATGCAAGCCATCCTTA 0.687000 6 52 0 0 0.001984 0 0 MTNR1A 4543 broad.mit.edu 37 4 187454987 187454987 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr4:187454987C>A ENST00000307161.5 - 2 1110 c.909G>T c.(907-909)agG>agT p.R303S RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 303 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity p.R303S(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) TGTATTCCTTCCTGAAATTTT 0.473000 11 153 6.94344e-10 1.48624e-09 0.006122 1 0 SSPO 23145 broad.mit.edu 37 7 149503133 149503133 + RNA SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr7:149503133G>T ENST00000378016.2 + 0 8637 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACTGCAACACGCAGCCCTGCA 0.637000 7 42 8.12818e-05 0.000137595 0.001984 1 0 POLR3D 661 broad.mit.edu 37 8 22105494 22105494 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr8:22105494G>T ENST00000397802.4 + 3 549 c.334G>T c.(334-336)Ggc>Tgc p.G112C POLR3D_ENST00000306433.4_Missense_Mutation_p.G112C P05423 RPC4_HUMAN polymerase (RNA) III (DNA directed) polypeptide D, 44kDa 112 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity p.G112C(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 13 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) CTTTGAGCAGGGCCCAGCTGA 0.522000 24 38 1.85244e-09 3.83826e-09 0.003330 1 0 RPS6KC1 26750 broad.mit.edu 37 1 213415205 213415205 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:213415205G>T ENST00000366960.3 + 11 2536 c.2386G>T c.(2386-2388)Gat>Tat p.D796Y RPS6KC1_ENST00000543354.1_Missense_Mutation_p.D499Y|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.D784Y|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.D584Y NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 796 Protein kinase 2. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity p.D796Y(1) breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) ACCCAGCTCAGATCCTAAGTT 0.418000 54 79 4.88482e-21 1.27795e-20 0.014410 1 0 TENM4 26011 broad.mit.edu 37 11 78433921 78433921 + Nonsense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:78433921G>A ENST00000278550.7 - 24 4054 c.3592C>T c.(3592-3594)Cag>Tag p.Q1198* NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 p.Q1198*(2) GGAGGCTGCTGAGACACAAAC 0.562000 10 37 0 0 0.006214 0 0 RYR1 6261 broad.mit.edu 37 19 38976748 38976748 + Missense_Mutation SNP C C G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:38976748C>G ENST00000355481.4 + 34 5584 c.5453C>G c.(5452-5454)gCg>gGg p.A1818G RYR1_ENST00000359596.3_Missense_Mutation_p.A1818G|RYR1_ENST00000360985.3_Missense_Mutation_p.A1818G NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1818 6 X approximate repeats. 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 p.A1818G(1) 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) CTGGGGGAGGCGGTGCGCGAC 0.706000 35 74 0 0 0.003755 0 0 FAM179B 23116 broad.mit.edu 37 14 45433416 45433416 + Missense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr14:45433416G>A ENST00000361462.2 + 1 1975 c.1792G>A c.(1792-1794)Ggg>Agg p.G598R FAM179B_ENST00000361577.3_Missense_Mutation_p.G598R|FAM179B_ENST00000382233.2_Missense_Mutation_p.G598R|KLHL28_ENST00000553817.1_Intron Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 598 binding p.G598R(1) endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 ATCTTCTGCCGGGGGTAGGTC 0.512000 42 65 0 0 0.010771 0 0 MPV17 4358 broad.mit.edu 37 2 27535444 27535444 + Missense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:27535444G>A ENST00000357186.6 - 3 1353 c.124C>T c.(124-126)Ccg>Tcg p.P42S MPV17_ENST00000405076.1_Intron|MPV17_ENST00000403262.2_Missense_Mutation_p.P98S|MPV17_ENST00000402310.1_Missense_Mutation_p.P98S|MPV17_ENST00000405983.1_Missense_Mutation_p.P113S|MPV17_ENST00000402722.1_Missense_Mutation_p.P86L|MPV17_ENST00000380044.1_Missense_Mutation_p.P98S|MPV17_ENST00000233545.2_Missense_Mutation_p.P98S P39210 MPV17_HUMAN MpV17 mitochondrial inner membrane protein 98 cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process integral to peroxisomal membrane|mitochondrial inner membrane p.P113S(1)|p.P98S(1) lung(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAAAACACGGGGCAAAGCCC 0.562000 8 104 0 0 0.004482 0 0 SSBP2 23635 broad.mit.edu 37 5 80724479 80724479 + Silent SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:80724479C>A ENST00000320672.4 - 16 1191 c.981G>T c.(979-981)ctG>ctT p.L327L SSBP2_ENST00000509053.1_Intron|SSBP2_ENST00000515395.1_Silent_p.L305L|SSBP2_ENST00000505980.1_Silent_p.L307L|SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000514493.1_Silent_p.L297L NM_001256732.1|NM_001256733.1|NM_012446.3 NP_001243661.1|NP_001243662.1|NP_036578.2 P81877 SSBP2_HUMAN single-stranded DNA binding protein 2 327 regulation of transcription, DNA-dependent cytoplasm|nucleus single-stranded DNA binding p.L327L(1) SSBP2/JAK2(4) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338) OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29) GTTGATTACTCAGGCTCATAT 0.368000 22 49 1.5548e-18 3.90964e-18 0.005443 1 0 KIAA1551 55196 broad.mit.edu 37 12 32135902 32135902 + Silent SNP A A G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:32135902A>G ENST00000312561.4 + 4 2427 c.2013A>G c.(2011-2013)gaA>gaG p.E671E KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 p.E671E(1) GTTCCATGGAAGTGCTAGCAA 0.428000 10 37 0 0 0.013537 0 0 POLR3A 11128 broad.mit.edu 37 10 79745855 79745855 + Silent SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr10:79745855G>A ENST00000372371.3 - 22 3101 c.2964C>T c.(2962-2964)ggC>ggT p.G988G NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 988 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding p.G988G(1) breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) TATCATTGATGCCATATTTAT 0.418000 52 112 0 0 0.014410 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356236 37356236 + Nonsense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr20:37356236G>T ENST00000217420.1 + 2 795 c.532G>T c.(532-534)Gag>Tag p.E178* NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 178 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity p.E178*(1) breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TGAAGACGGCGAGGTGGTGCG 0.637000 7 37 1.06961e-07 2.03698e-07 0.003080 1 0 IGHV6-1 28385 broad.mit.edu 37 14 106405763 106405763 + RNA SNP C C G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr14:106405763C>G ENST00000390593.2 - 0 262 TATGTCCTTCCCAGCCACTCA 0.507000 44 87 0 0 0.014410 0 0 GPR142 350383 broad.mit.edu 37 17 72368582 72368582 + Missense_Mutation SNP T T A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr17:72368582T>A ENST00000335666.4 + 4 1280 c.1232T>A c.(1231-1233)tTc>tAc p.F411Y NM_181790.1 NP_861455.1 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 411 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity p.F411Y(1) central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 GCAGCCAACTTCGGCCTCTAC 0.607000 23 61 0 0 0.003954 0 0 CHRNB2 1141 broad.mit.edu 37 1 154544242 154544242 + Missense_Mutation SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:154544242A>T ENST00000368476.3 + 5 1207 c.943A>T c.(943-945)Agc>Tgc p.S315C NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) 315 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.S315C(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) CATCGTCACCAGCGTGTGCGT 0.627000 29 38 0 0 0.008361 0 0 CACNA1A 773 broad.mit.edu 37 19 13339571 13339571 + Missense_Mutation SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:13339571C>T ENST00000573710.2 - 37 5848 c.5570G>A c.(5569-5571)cGa>cAa p.R1857Q CACNA1A_ENST00000360228.5_Intron NM_001127221.1 NP_001120693.1 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1857 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding p.R1857Q(2)|p.R1857L(2) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) AGATATTACTCGTAATAAACT 0.478000 18 30 0 0 0.003330 0 0 GPX8 493869 broad.mit.edu 37 5 54456928 54456928 + Nonsense_Mutation SNP T T A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:54456928T>A ENST00000503787.1 + 2 386 c.311T>A c.(310-312)tTg>tAg p.L104* GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000381375.2_Intron|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000515370.1_Nonsense_Mutation_p.L53*|CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000296734.6_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000322374.6_Intron NM_001008397.2 NP_001008398.2 Q8TED1 GPX8_HUMAN glutathione peroxidase 8 (putative) 104 response to oxidative stress integral to membrane glutathione peroxidase activity p.L104*(1)|p.L104W(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1) 11 Glutathione(DB00143) TTCAGCGTGTTGGCTTTTCCC 0.473000 13 77 0 0 0.001855 0 0 GATA5 140628 broad.mit.edu 37 20 61039900 61039900 + Missense_Mutation SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr20:61039900A>T ENST00000252997.2 - 7 1247 c.1186T>A c.(1186-1188)Ttg>Atg p.L396M NM_080473.4 NP_536721.1 Q9BWX5 GATA5_HUMAN GATA binding protein 5 396 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding p.L396M(1) kidney(1)|lung(3)|ovary(1)|stomach(1) 6 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) ACCTAGGCCAAGGCCAGCGCA 0.662000 8 50 0 0 0.006214 0 0 KCNQ2 3785 broad.mit.edu 37 20 62046267 62046267 + Missense_Mutation SNP T T A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr20:62046267T>A ENST00000354587.3 - 11 1606 c.1430A>T c.(1429-1431)cAg>cTg p.Q477L KCNQ2_ENST00000430658.1_Missense_Mutation_p.Q475L|KCNQ2_ENST00000370222.3_Missense_Mutation_p.Q477L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.Q477L|KCNQ2_ENST00000359125.2_Missense_Mutation_p.Q505L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.Q477L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.Q505L|KCNQ2_ENST00000370226.1_Missense_Mutation_p.Q475L|KCNQ2_ENST00000357249.2_Missense_Mutation_p.Q487L|KCNQ2_ENST00000344462.3_Missense_Mutation_p.Q465L O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 505 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.Q505L(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) TTCTGAGTTCTGCCGTGACGC 0.672000 35 64 0 0 0.006230 0 0 SELPLG 6404 broad.mit.edu 37 12 109017390 109017390 + Missense_Mutation SNP G G T rs113452057 TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:109017390G>T ENST00000388962.3 - 3 823 c.664C>A c.(664-666)Cag>Aag p.Q222K SELPLG_ENST00000228463.6_Missense_Mutation_p.Q248K|SELPLG_ENST00000550948.1_Missense_Mutation_p.Q232K NM_003006.4 NP_002997.2 Q14242 SELPL_HUMAN selectin P ligand 232 12 X 10 AA tandem repeats. blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding p.Q232K(1)|p.Q222K(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 GCAGTGGTCTGTGCCTCCATG 0.617000 31 166 2.68265e-12 6.0418e-12 0.013726 1 0 ZNF160 90338 broad.mit.edu 37 19 53572754 53572754 + Missense_Mutation SNP C C G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:53572754C>G ENST00000601421.1 - 3 1801 c.925G>C c.(925-927)Gag>Cag p.E309Q ZNF160_ENST00000429604.1_Missense_Mutation_p.E345Q|ZNF160_ENST00000599056.1_Missense_Mutation_p.E345Q|ZNF160_ENST00000418871.1_Missense_Mutation_p.E345Q Q9HCG1 ZN160_HUMAN zinc finger protein 160 345 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E345Q(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) TTTCCACACTCATTACACTTG 0.403000 9 75 0 0 0.004482 0 0 WDR90 197335 broad.mit.edu 37 16 716792 716792 + Splice_Site SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr16:716792G>T ENST00000549091.1 + 39 5102 c.5010_splice c.e39+1 p.Q1670_splice WDR90_ENST00000293879.4_Splice_Site_p.Q1668_splice|WDR90_ENST00000315764.4_Splice_Site_p.Q219_splice|WDR90_ENST00000547944.1_Splice_Site_p.Q267_splice NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1668 p.?(1) endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GCCAGAAGCAGGTACACGCAG 0.657000 24 54 2.24059e-21 5.92157e-21 0.006320 1 0 FMO4 2329 broad.mit.edu 37 1 171303751 171303751 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:171303751C>T ENST00000367749.3 + 8 1359 c.1029C>T c.(1027-1029)agC>agT p.S343S NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 343 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding p.S343S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CTCTTAAAAGCCTCTGTACAA 0.383000 12 121 0 0 0.010729 0 0 ZNF560 147741 broad.mit.edu 37 19 9577542 9577542 + Missense_Mutation SNP C C T rs148650284 TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:9577542C>T ENST00000301480.4 - 10 2294 c.2081G>A c.(2080-2082)cGa>cAa p.R694Q NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 694 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R694Q(1) NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 CATGGAATTTCGAAAGGAATT 0.378000 39 153 0 0 0.006230 0 0 LRRN3 54674 broad.mit.edu 37 7 110764827 110764827 + Missense_Mutation SNP C C G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr7:110764827C>G ENST00000451085.1 + 4 3045 c.1999C>G c.(1999-2001)Cag>Gag p.Q667E IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.Q667E|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.Q667E|IMMP2L_ENST00000331762.3_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 667 integral to membrane p.Q667E(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) GAATTACTTACAGAAACCAAC 0.418000 25 94 0 0 0.007291 0 0 POTEA 340441 broad.mit.edu 37 8 43171053 43171053 + RNA SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr8:43171053A>T ENST00000522175.2 + 0 788 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A p.T308T(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TAAAGCTGACATCAGAGGAAG 0.279000 30 62 0 0 0.003271 0 0 ITFG2 55846 broad.mit.edu 37 12 2932973 2932973 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:2932973C>T ENST00000228799.2 + 11 1243 c.1104C>T c.(1102-1104)tgC>tgT p.C368C ITFG2_ENST00000542548.1_Silent_p.C256C|ITFG2_ENST00000419778.2_Silent_p.C191C NM_018463.3 NP_060933.3 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 368 p.C368C(1) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(31;0.000818) ACAGCCCCTGCCTCGTATATG 0.552000 19 238 0 0 0.007413 0 0 FOXN4 121643 broad.mit.edu 37 12 109719546 109719546 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:109719546C>T ENST00000299162.5 - 9 1064 c.960G>A c.(958-960)ccG>ccA p.P320P FOXN4_ENST00000355216.1_Silent_p.P140P NM_213596.2 NP_998761.2 Q96NZ1 FOXN4_HUMAN forkhead box N4 320 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.P320P(1)|p.P140P(1) large_intestine(5)|lung(9)|ovary(2) 16 CTGGTTCCCCCGGTTTGCCGG 0.672000 4 25 0 0 0.009096 0 0 GABRA5 2558 broad.mit.edu 37 15 27160003 27160003 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr15:27160003C>A ENST00000335625.5 + 7 1439 c.551C>A c.(550-552)gCg>gAg p.A184E GABRA5_ENST00000400081.3_Missense_Mutation_p.A184E|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.A184E NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 184 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.A184E(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCGATGGATGCGCACGCTTGC 0.443000 12 59 9.31168e-06 1.62954e-05 0.001855 1 0 BOLL 66037 broad.mit.edu 37 2 198646540 198646540 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:198646540G>T ENST00000321801.7 - 2 641 c.71C>A c.(70-72)cCt>cAt p.P24H BOLL_ENST00000430004.1_Missense_Mutation_p.P12H|BOLL_ENST00000392296.4_Missense_Mutation_p.P12H|BOLL_ENST00000282278.8_De_novo_Start_InFrame|BOLL_ENST00000433157.1_Missense_Mutation_p.P12H NM_197970.2 NP_932074.1 Q8N9W6 BOLL_HUMAN boule-like RNA-binding protein 12 cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity p.P24N(1)|p.P12N(1) central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1) 13 AGGTGACACAGGATTAGGGGA 0.393000 17 104 1.02788e-11 2.25612e-11 0.004990 1 0 OR51B5 282763 broad.mit.edu 37 11 5363838 5363838 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:5363838G>T ENST00000300773.2 - 1 971 c.917C>A c.(916-918)aCt>aAt p.T306N AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T306N(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTATGGGTAGTAAAAAGGTG 0.368000 12 44 9.31168e-06 1.62954e-05 0.001855 1 0 C7 730 broad.mit.edu 37 5 40964946 40964946 + Missense_Mutation SNP G G C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:40964946G>C ENST00000313164.9 + 14 2212 c.1853G>C c.(1852-1854)cGg>cCg p.R618P NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 618 Sushi 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex p.R618L(1)|p.R618P(1) Ovarian(839;0.0112) GAAGATTTACGGTGGCTTGTT 0.393000 54 126 0 0 0.014410 0 0 HTR1E 3354 broad.mit.edu 37 6 87725649 87725649 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr6:87725649G>T ENST00000305344.4 + 2 1300 c.597G>T c.(595-597)ctG>ctT p.L199L HTR1E_ENST00000369584.1_Silent_p.L199L NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 199 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.P194fs*20(1)|p.L199L(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CTTTGATACTGATTCTCTATT 0.478000 6 38 3.59834e-05 6.21313e-05 0.001168 1 0 SYT6 148281 broad.mit.edu 37 1 114640500 114640500 + Splice_Site SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:114640500C>A ENST00000393296.1 - 6 1442 c.e6-1 SYT6_ENST00000369547.1_Splice_Site Q5T7P8 SYT6_HUMAN synaptotagmin VI acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity p.?(1) central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTGGCCCACTCTGAGGGAGAA 0.577000 8 42 0.000442599 0.000734828 0.006214 1 0 EPHA7 2045 broad.mit.edu 37 6 93956606 93956606 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr6:93956606C>A ENST00000369303.4 - 15 2814 c.2630G>T c.(2629-2631)cGt>cTt p.R877L NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 877 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.R877L(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CCTTTCAGCACGCTCCTTTTG 0.423000 12 60 1.05317e-09 2.21765e-09 0.002450 1 0 PAPLN 89932 broad.mit.edu 37 14 73720461 73720461 + Splice_Site SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr14:73720461G>T ENST00000427855.1 + 12 1196 c.e12-1 PAPLN_ENST00000555445.1_Splice_Site|PAPLN_ENST00000381166.3_Splice_Site|PAPLN_ENST00000554301.1_Splice_Site|PAPLN_ENST00000340738.5_Splice_Site O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding p.?(2) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CCTCCTGCCAGCTGGAAGGCA 0.662000 13 41 0.00244969 0.00394081 0.002450 1 0 AP3B2 8120 broad.mit.edu 37 15 83333169 83333169 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr15:83333169G>T ENST00000261722.3 - 18 2361 c.2154C>A c.(2152-2154)tcC>tcA p.S718S RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Silent_p.S737S|AP3B2_ENST00000535348.1_Silent_p.S686S NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 718 Glu/Ser-rich. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity p.S717S(1) breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) CTTCATTGTCGGACTCACTGC 0.567000 4 48 0.000602214 0.000987174 0.000602 1 0 PTPRK 5796 broad.mit.edu 37 6 128306976 128306976 + Silent SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr6:128306976C>A ENST00000368227.3 - 23 3558 c.3192G>T c.(3190-3192)acG>acT p.T1064T PTPRK_ENST00000368210.3_Silent_p.T1065T|PTPRK_ENST00000532331.1_Silent_p.T1069T|PTPRK_ENST00000368213.5_Silent_p.T1053T|PTPRK_ENST00000368207.3_Silent_p.T1079T|PTPRK_ENST00000368215.3_Silent_p.T1046T|PTPRK_ENST00000368226.4_Silent_p.T1047T Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1046 Tyrosine-protein phosphatase 1. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity p.T1047T(1) PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CAGGCCAGCCCGTGAAATGGA 0.473000 13 53 4.93089e-13 1.14027e-12 0.002450 1 0 CSAG4 100130935 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 5 145 8.12818e-05 0.000137595 0.001984 1 0 TMC6 11322 broad.mit.edu 37 17 76117707 76117707 + Missense_Mutation SNP C C G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr17:76117707C>G ENST00000590602.1 - 11 1472 c.1313G>C c.(1312-1314)tGg>tCg p.W438S TMC6_ENST00000392467.3_Missense_Mutation_p.W438S|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000591436.1_Missense_Mutation_p.W77S|TMC6_ENST00000322914.3_Missense_Mutation_p.W438S|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322933.4_Missense_Mutation_p.W77S|TMC6_ENST00000589553.1_Missense_Mutation_p.W211S Q7Z403 TMC6_HUMAN transmembrane channel-like 6 438 endoplasmic reticulum membrane|integral to membrane p.W438S(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 14 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) ACACAGCAGCCACACAAGCCC 0.721000 3 16 0 0 0.001168 0 0 TEP1 7011 broad.mit.edu 37 14 20854332 20854332 + Nonsense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr14:20854332C>A ENST00000262715.5 - 20 2924 c.2884G>T c.(2884-2886)Gag>Tag p.E962* TEP1_ENST00000556935.1_Nonsense_Mutation_p.E854* NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 962 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding p.E962*(1) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TTCTCCACCTCCCCAAGGCAC 0.552000 19 129 5.3912e-06 9.62981e-06 0.006122 1 0 LRTM2 654429 broad.mit.edu 37 12 1943635 1943635 + Silent SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:1943635G>A ENST00000543818.1 + 5 1703 c.861G>A c.(859-861)ccG>ccA p.P287P CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000543730.1_3'UTR|LRTM2_ENST00000299194.1_Silent_p.P287P|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Silent_p.P287P NM_001039029.2|NM_001163925.1|NM_001163926.1 NP_001034118.1|NP_001157397.1|NP_001157398.1 Q8N967 LRTM2_HUMAN leucine-rich repeats and transmembrane domains 2 287 integral to membrane p.P287P(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) AGCCGGAGCCGGAGCCCAGCA 0.677000 11 35 0 0 0.013537 0 0 CCDC41 51134 broad.mit.edu 37 12 94806266 94806266 + Translation_Start_Site SNP T T C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:94806266T>C ENST00000397809.5 - 3 550 c.1A>G c.(1-3)Atg>Gtg p.M1V CCDC41_ENST00000397807.2_5'UTR|CCDC41_ENST00000547575.1_Start_Codon_SNP_p.M1V|CCDC41_ENST00000339839.5_Start_Codon_SNP_p.M1V NM_016122.2 NP_057206.2 Q9Y592 CCD41_HUMAN coiled-coil domain containing 41 0 p.M1V(1) breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2) 27 CTGACAACCATGTAAAAATAA 0.393000 19 57 0 0 0.012319 0 0 SP100 6672 broad.mit.edu 37 2 231327148 231327148 + Splice_Site SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:231327148A>T ENST00000264052.5 + 10 1328 c.e10-1 SP100_ENST00000409112.1_Splice_Site|SP100_ENST00000409341.1_Splice_Site|SP100_ENST00000340126.4_Splice_Site|SP100_ENST00000409897.1_Splice_Site|SP100_ENST00000409824.1_Splice_Site|SP100_ENST00000341950.4_Splice_Site|SP100_ENST00000427101.2_Splice_Site NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding p.?(2) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TCCTTTGTGCAGTCATCAGCA 0.498000 16 51 0 0 0.004990 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1818201 1818201 + Splice_Site SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr16:1818201C>A ENST00000250894.4 + 30 3718 c.3559_splice c.e30-1 p.A1187_splice MAPK8IP3_ENST00000356010.5_Splice_Site_p.A1181_splice NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 1187 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding p.A1193A(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 TCCCTGCAGCCAATAAGACAT 0.657000 5 95 0.00116845 0.00190332 0.001168 1 0 USP33 23032 broad.mit.edu 37 1 78207102 78207102 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:78207102C>A ENST00000370793.1 - 4 533 c.187G>T c.(187-189)Gat>Tat p.D63Y USP33_ENST00000357428.1_Missense_Mutation_p.D63Y|USP33_ENST00000370794.3_Missense_Mutation_p.D32Y|USP33_ENST00000528150.1_5'UTR|USP33_ENST00000370792.3_Missense_Mutation_p.D63Y NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 63 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding p.D63Y(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 ACTTTACAATCCTGACAAGTA 0.303000 28 155 1.16021e-09 2.42334e-09 0.007291 1 0 SLC24A4 123041 broad.mit.edu 37 14 92915520 92915520 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr14:92915520C>T ENST00000532405.1 + 10 1066 c.840C>T c.(838-840)gaC>gaT p.D280D SLC24A4_ENST00000298877.1_Silent_p.D263D|SLC24A4_ENST00000531433.1_Intron|SLC24A4_ENST00000351924.5_Intron|SLC24A4_ENST00000393265.2_Silent_p.D216D Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 280 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity p.D263D(1) breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) ATTTCTATGACGGTAGCTATG 0.493000 6 54 0 0 0.001984 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725310 140725310 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:140725310C>T ENST00000253812.6 + 1 1710 c.1710C>T c.(1708-1710)gaC>gaT p.D570D PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 p.D570D(1) breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCCACAGACGGTTCCACTG 0.672000 28 176 0 0 0.008361 0 0 C4orf27 54969 broad.mit.edu 37 4 170652978 170652978 + Missense_Mutation SNP C C A rs1047673 TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr4:170652978C>A ENST00000393381.2 - 7 861 c.786G>T c.(784-786)gaG>gaT p.E262D NM_017867.2 NP_060337.2 Q9NWY4 CD027_HUMAN chromosome 4 open reading frame 27 262 nucleus p.E262D(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 12 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116) TTAGTCTCTCCTCATCACTTG 0.363000 5 61 0.00136819 0.00221476 0.013537 1 0 ZNF462 58499 broad.mit.edu 37 9 109701363 109701363 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr9:109701363G>T ENST00000277225.5 + 7 6691 c.6402G>T c.(6400-6402)ccG>ccT p.P2134P ZNF462_ENST00000457913.1_Silent_p.P2194P|ZNF462_ENST00000542028.1_Silent_p.P91P|ZNF462_ENST00000441147.2_Silent_p.P1040P Q96JM2 ZN462_HUMAN zinc finger protein 462 2134 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P2134P(1) NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 AAGCTACCCCGGCTGAAGAAG 0.532000 20 116 2.37509e-13 5.54188e-13 0.010504 1 0 DHRS7C 201140 broad.mit.edu 37 17 9694562 9694562 + Silent SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr17:9694562G>A ENST00000330255.4 - 1 52 c.40C>T c.(40-42)Ctg>Ttg p.L14L DHRS7C_ENST00000571134.1_Silent_p.L14L NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 14 extracellular region binding|oxidoreductase activity p.L14L(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 CTGATTCCCAGCAGCAGCAGG 0.542000 5 9 0 0 0.001168 0 0 SHANK1 50944 broad.mit.edu 37 19 51215303 51215303 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:51215303C>T ENST00000293441.1 - 6 879 c.861G>A c.(859-861)acG>acA p.T287T SHANK1_ENST00000391814.1_Silent_p.T287T|SHANK1_ENST00000359082.3_Silent_p.T287T NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 287 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding p.T287T(1) breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CCACCATGGCCGTGTGGAACA 0.617000 5 56 0 0 0.000602 0 0 DCLRE1A 9937 broad.mit.edu 37 10 115609681 115609681 + Missense_Mutation SNP T T C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr10:115609681T>C ENST00000361384.2 - 2 2100 c.1183A>G c.(1183-1185)Act>Gct p.T395A DCLRE1A_ENST00000369305.1_Missense_Mutation_p.T395A NM_014881.3 NP_055696.3 Q6PJP8 DCR1A_HUMAN DNA cross-link repair 1A 395 cell division|mitosis nucleus hydrolase activity p.T395A(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1) 31 Epithelial(162;0.0157)|all cancers(201;0.0171) TAAGGCAAAGTACTCTCATTA 0.393000 Other identified genes with known or suspected DNA repair function 7 75 0 0 0.001984 0 0 STX12 23673 broad.mit.edu 37 1 28144412 28144412 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:28144412C>T ENST00000373943.4 + 7 752 c.627C>T c.(625-627)atC>atT p.I209I NM_177424.2 NP_803173.1 Q86Y82 STX12_HUMAN syntaxin 12 209 t-SNARE coiled-coil homology. cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle SNAP receptor activity p.I209I(1) breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3) 8 Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649) CCATGATGATCCATGACCAGG 0.358000 10 45 0 0 0.013537 0 0 ODF2 4957 broad.mit.edu 37 9 131231471 131231471 + Missense_Mutation SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr9:131231471C>T ENST00000303890.5 + 7 772 c.187C>T c.(187-189)Cat>Tat p.H63Y ODF2_ENST00000448249.3_Intron|ODF2_ENST00000351030.3_Missense_Mutation_p.H82Y|ODF2_ENST00000444119.2_Missense_Mutation_p.H63Y|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372791.3_Missense_Mutation_p.H68Y|ODF2_ENST00000393533.2_Missense_Mutation_p.H87Y|ODF2_ENST00000372796.4_Missense_Mutation_p.H87Y|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372814.3_Missense_Mutation_p.H131Y|ODF2_ENST00000546203.1_Missense_Mutation_p.H68Y|ODF2_ENST00000372807.5_Missense_Mutation_p.H82Y|ODF2_ENST00000434106.2_Missense_Mutation_p.H87Y NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 87 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity p.H87Y(1)|p.H63Y(1)|p.H131Y(1) autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 GAATCCACCTCATTGCCTGGA 0.473000 21 96 0 0 0.014323 0 0 TNN 63923 broad.mit.edu 37 1 175092548 175092548 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:175092548C>A ENST00000239462.4 + 12 2776 c.2663C>A c.(2662-2664)cCc>cAc p.P888H NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 888 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.P888H(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ATTGACGGCCCCAAAAACCTA 0.473000 29 62 3.73148e-12 8.33149e-12 0.007291 1 0 CYP24A1 1591 broad.mit.edu 37 20 52782307 52782307 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr20:52782307C>A ENST00000216862.3 - 5 1099 c.706G>T c.(706-708)Gtg>Ttg p.V236L CYP24A1_ENST00000395955.3_Missense_Mutation_p.V236L|CYP24A1_ENST00000395954.3_Missense_Mutation_p.V94L NM_000782.4 NP_000773.2 Q07973 CP24A_HUMAN cytochrome P450, family 24, subfamily A, polypeptide 1 236 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen p.V236L(1) breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) ATGAAGTTCACAGCTTCATCC 0.383000 25 63 5.61819e-17 1.37275e-16 0.005443 1 0 GABRA2 2555 broad.mit.edu 37 4 46252550 46252550 + Missense_Mutation SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr4:46252550A>T ENST00000510861.1 - 10 1304 c.1131T>A c.(1129-1131)aaT>aaA p.N377K GABRA2_ENST00000540012.1_Missense_Mutation_p.N382K|GABRA2_ENST00000381620.4_Missense_Mutation_p.N377K|GABRA2_ENST00000514090.1_Missense_Mutation_p.N377K|GABRA2_ENST00000356504.1_Missense_Mutation_p.N377K|GABRA2_ENST00000507069.1_Missense_Mutation_p.N437K P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 377 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.N377K(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTTTTGAAAGATTCGGGGCAT 0.408000 45 176 0 0 0.010771 0 0 PCDHB2 56133 broad.mit.edu 37 5 140476407 140476407 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:140476407C>A ENST00000194155.4 + 1 2181 c.2033C>A c.(2032-2034)gCg>gAg p.A678E NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 678 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.A678E(1)|p.A678V(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCCCGGAGGCGGCACCGGCC 0.682000 47 137 6.08268e-21 1.57541e-20 0.014410 1 0 ABCC1 4363 broad.mit.edu 37 16 16218667 16218667 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr16:16218667G>T ENST00000399408.2 + 26 3817 c.3642G>T c.(3640-3642)gaG>gaT p.E1214D ABCC1_ENST00000351154.5_Missense_Mutation_p.E1145D|ABCC1_ENST00000345148.5_Missense_Mutation_p.E1204D|ABCC1_ENST00000349029.5_Missense_Mutation_p.E1089D|ABCC1_ENST00000399410.3_Missense_Mutation_p.E1204D|ABCC1_ENST00000346370.5_Missense_Mutation_p.E1148D P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1204 ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances p.E1204D(1) breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGCGGCTGGAGTGTGTGGGCA 0.582000 20 52 4.96729e-08 9.67314e-08 0.008871 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 8 19 0.00448238 0.00707888 0.004482 1 0 C6orf118 168090 broad.mit.edu 37 6 165715464 165715464 + Missense_Mutation SNP G G T rs150870882 byFrequency TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr6:165715464G>T ENST00000543069.1 - 2 616 c.35C>A c.(34-36)aCg>aAg p.T12K C6orf118_ENST00000230301.8_Missense_Mutation_p.T116K Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 116 p.T116K(1) breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) GACCAGGGCCGTGTGGATGGT 0.667000 12 72 9.31168e-06 1.62954e-05 0.001855 1 0 LRP5 4041 broad.mit.edu 37 11 68191071 68191071 + Missense_Mutation SNP A A G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:68191071A>G ENST00000294304.7 + 14 3248 c.3142A>G c.(3142-3144)Atc>Gtc p.I1048V NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1048 Beta-propeller 4. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity p.I1048V(1) autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CACCAATACCATCAACGTCCA 0.637000 12 104 0 0 0.013537 0 0 CNGA3 1261 broad.mit.edu 37 2 99012411 99012411 + Missense_Mutation SNP G G C TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:99012411G>C ENST00000393504.1 + 8 1195 c.778G>C c.(778-780)Gac>Cac p.D260H CNGA3_ENST00000409937.1_Missense_Mutation_p.D264H|CNGA3_ENST00000436404.2_Missense_Mutation_p.D242H|CNGA3_ENST00000272602.2_Missense_Mutation_p.D260H NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 260 D -> N (in ACHM2). signal transduction|visual perception integral to membrane cGMP binding p.D260H(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GGTCCCCACCGACCTGGCTTA 0.517000 12 76 0 0 0.002450 0 0 ZNF547 284306 broad.mit.edu 37 19 57883173 57883173 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:57883173G>T ENST00000282282.3 + 3 198 c.48G>T c.(46-48)gtG>gtT p.V16V AC003002.4_ENST00000597658.1_Silent_p.V16V NM_173631.2 NP_775902.2 Q8IVP9 ZN547_HUMAN zinc finger protein 547 16 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A17S(1) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTGAAGACGTGGCCATATATT 0.433000 35 226 6.00712e-18 1.496e-17 0.012213 1 0 PDE6A 5145 broad.mit.edu 37 5 149286941 149286941 + Splice_Site SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:149286941C>A ENST00000255266.5 - 7 1118 c.998_splice c.e7-1 p.P333_splice NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 333 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.?(1) breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GAGGTGGATTCCTGTGAAGGC 0.502000 10 72 2.17888e-05 3.78744e-05 0.006214 1 0 ZNF679 168417 broad.mit.edu 37 7 63720641 63720641 + Nonsense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr7:63720641G>T ENST00000421025.1 + 3 351 c.82G>T c.(82-84)Gag>Tag p.E28* ZNF679_ENST00000255746.4_Nonsense_Mutation_p.E28* NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 28 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E28*(1) endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 ATTCTCTCTGGAGGAGTGGCA 0.398000 13 89 7.03913e-09 1.42432e-08 0.013537 1 0 GAL3ST4 79690 broad.mit.edu 37 7 99758491 99758491 + Missense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr7:99758491G>A ENST00000360039.4 - 4 913 c.521C>T c.(520-522)tCc>tTc p.S174F GAL3ST4_ENST00000423751.1_Missense_Mutation_p.P73S|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.S112F|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S174F|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.P73S NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 174 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity p.S174F(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGATGAGGTGGATTTATAGTA 0.572000 9 65 0 0 0.006214 0 0 SSR4 6748 broad.mit.edu 37 X 153060161 153060161 + Missense_Mutation SNP C C G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chrX:153060161C>G ENST00000320857.3 + 2 1103 c.19C>G c.(19-21)Ctc>Gtc p.L7V SSR4_ENST00000370086.3_Missense_Mutation_p.L7V|SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370085.3_Missense_Mutation_p.L7V|SSR4_ENST00000370087.1_Missense_Mutation_p.L7V NM_001204526.1 NP_001191455.1 P51571 SSRD_HUMAN signal sequence receptor, delta 7 intracellular protein transport integral to membrane|Sec61 translocon complex calcium ion binding|protein binding p.L7V(1) central_nervous_system(1)|endometrium(1)|lung(2) 4 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GATGGCATCTCTCGGCGCCCT 0.637000 18 14 0 0 0.007413 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905997 144905997 + Missense_Mutation SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chrX:144905997A>T ENST00000370490.1 + 1 6309 c.2054A>T c.(2053-2055)tAc>tTc p.Y685F SLITRK2_ENST00000428560.2_Missense_Mutation_p.Y685F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.Y685F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.Y685F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.Y685F Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 685 integral to membrane p.Y685F(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) GGCCATGTCTACAACTATATC 0.473000 38 41 0 0 0.006999 0 0 CD19 930 broad.mit.edu 37 16 28947911 28947911 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr16:28947911C>T ENST00000538922.1 + 7 1136 c.1074C>T c.(1072-1074)acC>acT p.T358T CD19_ENST00000567541.1_Silent_p.T358T|CD19_ENST00000324662.3_Silent_p.T358T NM_001178098.1|NM_001770.5 NP_001171569.1|NP_001761.3 P15391 CD19_HUMAN CD19 molecule 358 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity p.T358T(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 CCACACCCACCTCAGGCCTCG 0.652000 7 26 0 0 0.003080 0 0 SLC4A10 57282 broad.mit.edu 37 2 162807357 162807357 + Splice_Site SNP A A T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:162807357A>T ENST00000375514.5 + 19 2770 c.2484_splice c.e19+1 p.K828_splice SLC4A10_ENST00000446997.1_Splice_Site_p.K847_splice|SLC4A10_ENST00000272716.5_Splice_Site_p.K817_splice|SLC4A10_ENST00000415876.2_Splice_Site_p.K817_splice|SLC4A10_ENST00000421911.1_Splice_Site_p.K847_splice NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 847 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity p.K847M(1)|p.K817M(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CATAAGCTAAAGGTATATTTT 0.308000 6 13 0 0 0.001984 0 0 BOLL 66037 broad.mit.edu 37 2 198646541 198646541 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr2:198646541G>T ENST00000321801.7 - 2 640 c.70C>A c.(70-72)Cct>Act p.P24T BOLL_ENST00000430004.1_Missense_Mutation_p.P12T|BOLL_ENST00000392296.4_Missense_Mutation_p.P12T|BOLL_ENST00000282278.8_5'UTR|BOLL_ENST00000433157.1_Missense_Mutation_p.P12T NM_197970.2 NP_932074.1 Q8N9W6 BOLL_HUMAN boule-like RNA-binding protein 12 cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity p.P24N(1)|p.P12N(1) central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1) 13 GGTGACACAGGATTAGGGGAT 0.398000 16 106 4.14922e-12 9.18502e-12 0.004007 1 0 ZC3H12C 85463 broad.mit.edu 37 11 110035384 110035384 + Missense_Mutation SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:110035384C>T ENST00000453089.2 + 5 2362 c.1481C>T c.(1480-1482)cCa>cTa p.P494L ZC3H12C_ENST00000528673.1_Missense_Mutation_p.P526L|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.P525L Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 525 endonuclease activity|nucleic acid binding|zinc ion binding p.P525L(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) GTTAGCATCCCAGCTACTTCT 0.448000 27 63 0 0 0.004656 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 6 57 0 0 0.004482 0 0 SOWAHB 345079 broad.mit.edu 37 4 77817780 77817780 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr4:77817780C>A ENST00000334306.2 - 1 1222 c.1223G>T c.(1222-1224)aGc>aTc p.S408I NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 408 p.S408I(1) CCCACTGCTGCTCTCCTCACT 0.582000 18 75 4.96729e-08 9.67314e-08 0.008871 1 0 RAB20 55647 broad.mit.edu 37 13 111176305 111176305 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr13:111176305C>A ENST00000267328.3 - 2 625 c.412G>T c.(412-414)Ggg>Tgg p.G138W NM_017817.1 NP_060287.1 Q9NX57 RAB20_HUMAN RAB20, member RAS oncogene family 138 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding p.G138W(2) endometrium(2)|large_intestine(2)|lung(3) 7 all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197) ACACGGTCCCCAGCGTCCATA 0.572000 8 44 0.000157383 0.000262982 0.003080 1 0 RABEP1 9135 broad.mit.edu 37 17 5235390 5235390 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr17:5235390G>T ENST00000262477.6 + 3 534 c.310G>T c.(310-312)Gat>Tat p.D104Y RABEP1_ENST00000341923.6_Missense_Mutation_p.D104Y|RABEP1_ENST00000408982.2_Missense_Mutation_p.D104Y|RABEP1_ENST00000570487.1_3'UTR|RABEP1_ENST00000537505.1_Missense_Mutation_p.D61Y|RABEP1_ENST00000546142.2_Missense_Mutation_p.D104Y NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 104 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity p.D104Y(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 AGAAGCTATAGATGAAGTGAA 0.418000 15 51 2.32078e-09 4.7705e-09 0.003163 1 0 MS4A6A 64231 broad.mit.edu 37 11 59949055 59949055 + Splice_Site SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:59949055C>A ENST00000528851.1 - 2 286 c.147_splice c.e2+1 p.G49_splice MS4A6A_ENST00000323961.3_Splice_Site_p.G49_splice|MS4A6A_ENST00000529054.1_Splice_Site_p.G77_splice|MS4A6A_ENST00000533023.1_Splice_Site_p.G49_splice|MS4A6A_ENST00000420732.2_Splice_Site_p.G49_splice|MS4A6A_ENST00000426738.2_Splice_Site_p.G49_splice|MS4A6A_ENST00000530839.1_Splice_Site_p.G49_splice|MS4A6A_ENST00000532169.1_Splice_Site_p.G49_splice|MS4A6A_ENST00000412309.2_Splice_Site_p.G77_splice Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 6A 49 integral to membrane receptor activity p.G49V(1)|p.G77V(1) endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TAGATTTACCCCAATAACTTT 0.478000 14 100 2.61681e-11 5.69542e-11 0.002450 1 0 LCE3E 353145 broad.mit.edu 37 1 152538635 152538635 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:152538635G>T ENST00000368789.1 - 2 105 c.50C>A c.(49-51)cCc>cAc p.P17H NM_178435.2 NP_848522.1 Q5T5B0 LCE3E_HUMAN late cornified envelope 3E 17 keratinization p.P17H(1) lung(6)|ovary(1) 7 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153) CTTGGGTGAGGGGCACTTGGG 0.592000 12 114 2.27111e-07 4.20155e-07 0.013537 1 0 CRY1 1407 broad.mit.edu 37 12 107391114 107391114 + Missense_Mutation SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:107391114C>T ENST00000008527.5 - 10 2410 c.1543G>A c.(1543-1545)Gga>Aga p.G515R NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 515 DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding p.G515R(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 GCAGAATATCCCATGAAGCCT 0.333000 18 276 0 0 0.012319 0 0 SETD5 55209 broad.mit.edu 37 3 9488802 9488802 + Silent SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr3:9488802G>A ENST00000402466.1 + 15 2067 c.1299G>A c.(1297-1299)cgG>cgA p.R433R SETD5_ENST00000402198.1_Silent_p.R531R|SETD5_ENST00000302463.6_Silent_p.R433R|SETD5_ENST00000407969.1_Silent_p.R550R|SETD5_ENST00000406341.1_Silent_p.R531R Q9C0A6 SETD5_HUMAN SET domain containing 5 531 p.R531R(1)|p.R433R(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GAAAGAAGCGGCGGGATCAGC 0.443000 37 37 0 0 0.003755 0 0 ZIM3 114026 broad.mit.edu 37 19 57647012 57647012 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:57647012G>T ENST00000269834.1 - 5 1078 c.693C>A c.(691-693)gcC>gcA p.A231A NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 231 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A231A(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCTGCTTGTAGGCATTTCCAC 0.408000 28 136 1.75199e-13 4.12513e-13 0.007291 1 0 NLRP10 338322 broad.mit.edu 37 11 7981827 7981827 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:7981827G>T ENST00000328600.2 - 2 1493 c.1332C>A c.(1330-1332)gcC>gcA p.A444A NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 444 NACHT. ATP binding p.A444A(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCAGGAAAGCGGCAAGCCTGG 0.488000 19 144 1.22574e-08 2.44205e-08 0.014323 1 0 STPG2 285555 broad.mit.edu 37 4 99055589 99055589 + Missense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr4:99055589G>A ENST00000295268.3 - 2 220 c.131C>T c.(130-132)tCt>tTt p.S44F NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 p.S44F(1) GGCAGTCAAAGAAAGAAATGG 0.353000 9 99 0 0 0.006214 0 0 OR4C46 119749 broad.mit.edu 37 11 51515433 51515433 + Missense_Mutation SNP C C A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:51515433C>A ENST00000328188.1 + 1 152 c.152C>A c.(151-153)cCa>cAa p.P51Q NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P51Q(2) endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 ACTGCCAGCCCATCACTGGGG 0.448000 41 238 1.8453e-21 4.97846e-21 0.010771 1 0 AGL 178 broad.mit.edu 37 1 100343333 100343333 + Silent SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:100343333C>T ENST00000294724.4 + 12 2038 c.1560C>T c.(1558-1560)ttC>ttT p.F520F AGL_ENST00000361522.4_Silent_p.F503F|AGL_ENST00000361915.3_Silent_p.F520F|AGL_ENST00000370165.3_Silent_p.F520F|AGL_ENST00000370163.3_Silent_p.F520F|AGL_ENST00000370161.2_Silent_p.F504F|AGL_ENST00000361302.3_Silent_p.F504F NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 520 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding p.F520F(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CAACTTATTTCCAGGGAGTAC 0.393000 16 67 0 0 0.006122 0 0 ZNF630 57232 broad.mit.edu 37 X 47918714 47918714 + Missense_Mutation SNP T T G TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chrX:47918714T>G ENST00000276054.4 - 5 1679 c.745A>C c.(745-747)Aag>Cag p.K249Q ZNF630_ENST00000442455.3_Missense_Mutation_p.K359Q|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000409324.3_Missense_Mutation_p.K373Q Q2M218 ZN630_HUMAN zinc finger protein 630 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K373Q(1) endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 TCAAAGGGCTTCTCTCTGGTA 0.418000 28 19 0 0 0.009535 0 0 IGHV3-13 28449 broad.mit.edu 37 14 106586415 106586415 + RNA SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr14:106586415C>T ENST00000390602.2 - 0 149 CCAGACTCCACCAGCTGCACC 0.547000 31 166 0 0 0.003271 0 0 PKD2L1 9033 broad.mit.edu 37 10 102057200 102057200 + Nonsense_Mutation SNP G G A TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr10:102057200G>A ENST00000318222.3 - 5 1277 c.895C>T c.(895-897)Cga>Tga p.R299* PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Nonsense_Mutation_p.R299* NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 299 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding p.R299*(1) NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) AACACCACTCGAGTGCCCCTG 0.572000 15 74 0 0 0.006122 0 0 MAN1A2 10905 broad.mit.edu 37 1 118003128 118003128 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:118003128G>T ENST00000356554.3 + 7 1703 c.968G>T c.(967-969)tGg>tTg p.W323L NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 323 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.W323L(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) GGGCGAAACTGGGGCTGGGCA 0.423000 32 94 9.65963e-10 2.05069e-09 0.003271 1 0 CYP2S1 29785 broad.mit.edu 37 19 41703808 41703808 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:41703808G>T ENST00000310054.4 + 3 684 c.468G>T c.(466-468)ctG>ctT p.L156L CYP2S1_ENST00000542619.1_Intron NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 156 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity p.L156L(1) breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 CCCGGTGTCTGGTGGAGACAT 0.632000 6 33 4.096e-09 8.35326e-09 0.001168 1 0 ZNF547 284306 broad.mit.edu 37 19 57883174 57883174 + Missense_Mutation SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:57883174G>T ENST00000282282.3 + 3 199 c.49G>T c.(49-51)Gcc>Tcc p.A17S AC003002.4_ENST00000597658.1_Missense_Mutation_p.A17S NM_173631.2 NP_775902.2 Q8IVP9 ZN547_HUMAN zinc finger protein 547 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A17S(1) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGAAGACGTGGCCATATATTT 0.433000 35 227 1.22384e-17 3.01879e-17 0.013726 1 0 ATM 472 broad.mit.edu 37 11 108123623 108123623 + Nonsense_Mutation SNP C C T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr11:108123623C>T ENST00000278616.4 + 12 2267 c.1882C>T c.(1882-1884)Caa>Taa p.Q628* ATM_ENST00000452508.2_Nonsense_Mutation_p.Q628* NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 628 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.Q628*(2) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GAATTTTTTCCAAAGCGTGCC 0.318000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 7 59 0 0 0.003080 0 0 TXNIP 10628 broad.mit.edu 37 1 145438883 145438883 + Silent SNP G G T TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:145438883G>T ENST00000369317.4 + 1 415 c.81G>T c.(79-81)gtG>gtT p.V27V TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 27 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding p.V27V(1) breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCGAGAAGGTGGCTGGCCGGG 0.507000 60 65 1.14385e-22 3.11851e-22 0.014410 1 0 KCNN3 3782 broad.mit.edu 37 1 154842199 154842200 + In_Frame_Ins INS - - GCTGCT rs58327065 TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr1:154842199_154842200insGCTGCT ENST00000271915.3 - 1 556_557 c.241_242insAGCAGC c.(241-243)acc>AGCAGCacc p.80_81insSS NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 80 Poly-Gln. integral to membrane calmodulin binding p.Q80_P81insQQ(2) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGGATGCGGTGgctgctgctgc 0.698 2 4 --- --- --- --- MSH3 4437 broad.mit.edu 37 5 79950742 79950750 + In_Frame_Del DEL CCCCCAGCT CCCCCAGCT - rs3045983 TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr5:79950742_79950750delCCCCCAGCT ENST00000265081.6 + 1 276_284 c.196_204delCCCCCAGCT c.(196-204)del p.PPA66del DHFR_ENST00000439211.2_5'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 66 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) gCCCCCAGCGCCCCCAGCTCCCGCCTTCC 0.732 Mismatch excision repair (MMR) 4 9 --- --- --- --- HOXA5 3202 broad.mit.edu 37 7 27182704 27182704 + Frame_Shift_Del DEL G G - TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr7:27182704delG ENST00000222726.3 - 1 583 c.523delC c.(523-525)agfs p.Q175fs HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA NM_019102.3 NP_061975.2 P20719 HXA5_HUMAN homeobox A5 175 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1) 16 GGGTAGATCTGGGGTTGGGCG 0.692 36 278 --- --- --- --- SMARCD1 6602 broad.mit.edu 37 12 50479213 50479213 + Frame_Shift_Del DEL G G - TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr12:50479213delG ENST00000394963.4 + 1 459 c.61delG c.(61-63)ggfs p.G21fs SMARCD1_ENST00000381513.4_Frame_Shift_Del_p.G21fs NM_003076.4 NP_003067.3 Q96GM5 SMRD1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 21 chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex protein complex scaffold|transcription coactivator activity NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 18 AGCCTCAGGAGGGGCGGGCGC 0.736 2 4 --- --- --- --- FBN1 2200 broad.mit.edu 37 15 48757810 48757811 + In_Frame_Ins INS - - GCG TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr15:48757810_48757811insGCG ENST00000316623.5 - 40 5351_5352 c.4896_4897insCGC c.(4894-4899)cggtcc>cgCGCgtcc p.1632_1633RS>RAS NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 1632 EGF-like 27; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CCGGTTGGACAGCGGCACTGGA 0.460 7 120 --- --- --- --- ABCC11 85320 broad.mit.edu 37 16 48244967 48244967 + Frame_Shift_Del DEL G G - TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr16:48244967delG ENST00000394747.1 - 10 1849 c.1500delC c.(1498-1500)aafs p.N500fs ABCC11_ENST00000537808.1_Frame_Shift_Del_p.N500fs|ABCC11_ENST00000356608.2_Frame_Shift_Del_p.N500fs|ABCC11_ENST00000394748.1_Frame_Shift_Del_p.N500fs|ABCC11_ENST00000353782.5_Frame_Shift_Del_p.N500fs NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 500 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) AAGCATGCCCGTTCCTCTCCA 0.592 16 60 --- --- --- --- IGFLR1 79713 broad.mit.edu 37 19 36231408 36231408 + Frame_Shift_Del DEL G G - TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:36231408delG ENST00000592537.1 - 3 315 c.215delC c.(214-216)cgfs p.P72fs AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000246532.1_Frame_Shift_Del_p.P72fs|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000344990.3_Intron|IGFLR1_ENST00000587101.1_5'UTR Q9H665 IGFR1_HUMAN IGF-like family receptor 1 72 integral to membrane|plasma membrane protein binding|receptor activity endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1) 15 CTTTCGGAACGGGGGCGTTAC 0.672 7 53 --- --- --- --- PEG3 5178 broad.mit.edu 37 19 57327542 57327542 + Frame_Shift_Del DEL G G - TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chr19:57327542delG ENST00000326441.9 - 10 2631 c.2268delC c.(2266-2268)ccfs p.P756fs ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Frame_Shift_Del_p.P630fs|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Frame_Shift_Del_p.P756fs|PEG3_ENST00000598410.1_Frame_Shift_Del_p.P632fs|ZIM2_ENST00000391708.3_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 756 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGTTTTCATAGGGGTTAGAGC 0.408 37 203 --- --- --- --- MID1IP1 58526 broad.mit.edu 37 X 38664680 38664681 + Frame_Shift_Del DEL CT CT - TCGA-55-6642-01A-11D-1855-08 TCGA-55-6642-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3c756f7c-d1f0-4ab1-9c9f-41d2282af3bf 27666212-a211-4433-9589-528f3108ef48 g.chrX:38664680_38664681delCT ENST00000336949.6 + 2 1426_1427 c.481_482delCT c.(481-483)cfs p.L161fs MID1IP1_ENST00000378474.3_Frame_Shift_Del_p.L161fs|MID1IP1_ENST00000457894.1_Frame_Shift_Del_p.L161fs NM_021242.4 NP_067065.1 Q9NPA3 M1IP1_HUMAN MID1 interacting protein 1 161 lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization cytosol|microtubule|nucleus kidney(1)|large_intestine(3)|lung(2)|prostate(1) 7 GCTCTCGAAACTCACGCGCAAA 0.624 7 10 --- --- --- ---