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 TTN 7273 broad.mit.edu 37 2 179500746 179500746 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr2:179500746G>A ENST00000589042.1 - 226 41776 c.41552C>T c.(41551-41553)aCa>aTa p.T13851I TTN_ENST00000342992.6_Missense_Mutation_p.T11283I|TTN_ENST00000342175.6_Missense_Mutation_p.T4978I|TTN_ENST00000460472.2_Missense_Mutation_p.T4786I|TTN_ENST00000359218.5_Missense_Mutation_p.T4911I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T12210I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12210 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACAGTAACTGTGTATGTTCC 0.468000 16 163 0 0 0.520397 0 0 TMEM82 388595 broad.mit.edu 37 1 16074093 16074093 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:16074093C>T ENST00000375782.1 + 6 1136 c.998C>T c.(997-999)tCg>tTg p.S333L RP11-169K16.4_ENST00000418525.1_RNA NM_001013641.1 NP_001013663.1 A0PJX8 TMM82_HUMAN transmembrane protein 82 333 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1) 13 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCCCTGCCCTCGGCACCCCAG 0.607000 12 133 0 0 0.520397 0 0 COG7 91949 broad.mit.edu 37 16 23428348 23428348 + Missense_Mutation SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr16:23428348C>G ENST00000307149.5 - 9 1417 c.1232G>C c.(1231-1233)aGa>aCa p.R411T NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 411 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) ATTGGTGAATCTGACGCATCT 0.582000 7 109 0 0 0.307466 0 0 C6orf165 154313 broad.mit.edu 37 6 88127960 88127960 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr6:88127960C>T ENST00000507897.1 + 7 749 c.666C>T c.(664-666)acC>acT p.T222T C6ORF165_ENST00000369562.4_Silent_p.T222T Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 222 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TCCCAGCCACCATGCAGCATA 0.493000 11 89 0 0 0.387290 0 0 UGGT1 56886 broad.mit.edu 37 2 128865573 128865573 + Silent SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr2:128865573C>G ENST00000375990.3 + 4 670 c.267C>G c.(265-267)ctC>ctG p.L89L UGGT1_ENST00000259253.6_Silent_p.L113L Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 113 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TGTCACCCCTCCAGCAGAATT 0.418000 26 192 0 0 0.681144 0 0 LIPI 149998 broad.mit.edu 37 21 15537706 15537706 + Missense_Mutation SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr21:15537706G>C ENST00000344577.2 - 6 827 c.802C>G c.(802-804)Caa>Gaa p.Q268E LIPI_ENST00000536861.1_Missense_Mutation_p.Q247E NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 247 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TTAATGAATTGAATTCCTTAA 0.303000 8 105 0 0 0.387290 0 0 PTPRN 5798 broad.mit.edu 37 2 220161532 220161532 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr2:220161532C>T ENST00000295718.2 - 16 2489 c.2249G>A c.(2248-2250)cGc>cAc p.R750H PTPRN_ENST00000409251.3_Missense_Mutation_p.R721H|PTPRN_ENST00000423636.2_Missense_Mutation_p.R660H NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 750 Tyrosine-protein phosphatase. response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CAGTTTTATGCGGGCATGGTC 0.617000 3 46 0 0 0.150653 0 0 CCDC88A 55704 broad.mit.edu 37 2 55589533 55589533 + Missense_Mutation SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr2:55589533C>G ENST00000436346.1 - 7 1379 c.538G>C c.(538-540)Gat>Cat p.D180H CCDC88A_ENST00000413716.2_Missense_Mutation_p.D180H|CCDC88A_ENST00000336838.6_Missense_Mutation_p.D180H|CCDC88A_ENST00000263630.8_Missense_Mutation_p.D180H NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 180 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TGCGACATATCAGTCACTTCC 0.348000 5 54 0 0 0.184627 0 0 VPS39 23339 broad.mit.edu 37 15 42457994 42457994 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr15:42457994C>T ENST00000318006.5 - 17 1863 c.1701G>A c.(1699-1701)ccG>ccA p.P567P VPS39_ENST00000348544.4_Silent_p.P578P NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 578 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) ACTCCACTTCCGGGAGATCTT 0.473000 14 140 0 0 0.435327 0 0 ANGPTL3 27329 broad.mit.edu 37 1 63063358 63063358 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:63063358G>A ENST00000371129.3 + 1 201 c.121G>A c.(121-123)Gac>Aac p.D41N DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000340370.5_Intron NM_014495.2 NP_055310.1 Q9Y5C1 ANGL3_HUMAN angiopoietin-like 3 41 acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis extracellular space cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1) 13 TGCTATGTTAGACGATGTAAA 0.348000 16 95 0 0 0.557998 0 0 RBMS2 5939 broad.mit.edu 37 12 56975652 56975652 + Silent SNP T T C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr12:56975652T>C ENST00000262031.5 + 8 863 c.768T>C c.(766-768)gcT>gcC p.A256A RBMS2_ENST00000552247.2_Silent_p.A256A|RBMS2_ENST00000542360.1_Silent_p.A111A|RBMS2_ENST00000550726.1_Silent_p.A131A NM_002898.3 NP_002889.1 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting protein 2 256 RNA processing nucleus nucleotide binding|RNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1) 18 CCACCACAGCTCTTCAGAATG 0.433000 51 264 0 0 0.870114 0 0 MBTPS1 8720 broad.mit.edu 37 16 84093017 84093017 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr16:84093017C>T ENST00000343411.3 - 21 3216 c.2721G>A c.(2719-2721)cgG>cgA p.R907R NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 907 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CCTTGGAGTACCGATGAAGAT 0.468000 3 52 0 0 0.184627 0 0 TUT1 64852 broad.mit.edu 37 11 62358968 62358968 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr11:62358968C>T ENST00000308436.7 - 1 141 c.104G>A c.(103-105)aGg>aAg p.R35K TUT1_ENST00000476907.1_5'UTR|MIR3654_ENST00000496634.2_5'UTR NM_022830.2 NP_073741.2 Q9H6E5 STPAP_HUMAN terminal uridylyl transferase 1, U6 snRNA-specific 0 mRNA cleavage|mRNA polyadenylation|snRNA processing nuclear speck|nucleolus ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 AGCGACTCTCCTGTACCGACA 0.602000 11 29 0 0 0.654019 0 0 COL14A1 7373 broad.mit.edu 37 8 121228727 121228727 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr8:121228727G>A ENST00000297848.3 + 14 2005 c.1735G>A c.(1735-1737)Gag>Aag p.E579K COL14A1_ENST00000247781.3_Missense_Mutation_p.E484K|COL14A1_ENST00000309791.4_Missense_Mutation_p.E579K|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 579 Fibronectin type-III 4. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging p.E579K(1) NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TGAAATCAATGAGGTAAGTTC 0.383000 8 211 0 0 0.278610 0 0 CEP350 9857 broad.mit.edu 37 1 180064865 180064865 + Missense_Mutation SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:180064865C>G ENST00000367607.3 + 35 9137 c.8719C>G c.(8719-8721)Caa>Gaa p.Q2907E CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2907 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 AAGAGTAACCCAACAACCATG 0.383000 8 89 0 0 0.307466 0 0 COL23A1 91522 broad.mit.edu 37 5 177697340 177697340 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr5:177697340G>A ENST00000390654.3 - 6 823 c.466C>T c.(466-468)Ccc>Tcc p.P156S COL23A1_ENST00000407622.1_Missense_Mutation_p.P120S NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 156 Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) TCACTTACGGGCTTGCCATCC 0.597000 6 39 0 0 0.278610 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059182 79059182 + Missense_Mutation SNP T T C rs143974743 TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr15:79059182T>C ENST00000388820.4 - 19 3281 c.3071A>G c.(3070-3072)cAc>cGc p.H1024R ADAMTS7_ENST00000566303.1_5'UTR NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1024 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.H1024R(2) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GGCCAGGTGGTGCGGGATGAA 0.682000 3 32 0 0 0.115264 0 0 WNT6 7475 broad.mit.edu 37 2 219736445 219736445 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr2:219736445C>T ENST00000233948.3 + 3 757 c.540C>T c.(538-540)gaC>gaT p.D180D WNT6_ENST00000486233.1_3'UTR NM_006522.3 NP_006513.1 Q9Y6F9 WNT6_HUMAN wingless-type MMTV integration site family, member 6 180 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity large_intestine(1)|ovary(2)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTTCGGGGACGAGAAGTCGA 0.726000 3 23 0 0 0.115264 0 0 NFRKB 4798 broad.mit.edu 37 11 129758675 129758675 + Missense_Mutation SNP C C A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr11:129758675C>A ENST00000446488.3 - 3 254 c.151G>T c.(151-153)Gat>Tat p.D51Y NFRKB_ENST00000524794.1_Missense_Mutation_p.D64Y|NFRKB_ENST00000524746.1_Missense_Mutation_p.D51Y|NFRKB_ENST00000304521.5_Missense_Mutation_p.D51Y|NFRKB_ENST00000526940.1_Missense_Mutation_p.D51Y NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 51 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) CTGACAACATCAAAGAAGATC 0.373000 3 45 0.150653 0.153393 0.150653 1 0 TENM2 57451 broad.mit.edu 37 5 167674088 167674088 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr5:167674088C>T ENST00000519204.1 + 26 5899 c.5781C>T c.(5779-5781)gtC>gtT p.V1927V TENM2_ENST00000518659.1_Silent_p.V2048V|TENM2_ENST00000520394.1_Silent_p.V1809V|TENM2_ENST00000403607.2_Silent_p.V1872V|TENM2_ENST00000545108.1_Silent_p.V2047V teneurin transmembrane protein 2 CCACTGGTGTCTTGAAGATGG 0.537000 17 152 0 0 0.539581 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325563 150325563 + Silent SNP C C A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr7:150325563C>A ENST00000328902.5 - 3 339 c.123G>T c.(121-123)ctG>ctT p.L41L GIMAP6_ENST00000493969.1_Intron NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 41 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAATGAGCCTCAGTCTCCTTG 0.517000 70 740 5.96624e-29 6.88886e-29 0.870114 1 0 ANKRD26 22852 broad.mit.edu 37 10 27323939 27323939 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr10:27323939C>T ENST00000376087.4 - 24 3605 c.3440G>A c.(3439-3441)cGa>cAa p.R1147Q ANKRD26_ENST00000376070.3_Missense_Mutation_p.R704Q|ANKRD26_ENST00000436985.2_Missense_Mutation_p.R1163Q NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1146 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 CAGTTGTTGTCGAAGCAACAT 0.368000 29 311 0 0 0.760397 0 0 TAF6 6878 broad.mit.edu 37 7 99711749 99711749 + Silent SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr7:99711749G>A ENST00000344095.4 - 2 609 c.84C>T c.(82-84)atC>atT p.I28I TAF6_ENST00000472509.1_Silent_p.I85I|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000453269.2_Silent_p.I28I|TAF6_ENST00000452041.1_Silent_p.I28I|TAF6_ENST00000437822.2_Silent_p.I65I NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 28 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAATCTGGGCGATGCCCATGG 0.567000 31 173 0 0 0.750413 0 0 PARPBP 55010 broad.mit.edu 37 12 102572458 102572458 + Missense_Mutation SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr12:102572458C>G ENST00000327680.2 + 9 1314 c.851C>G c.(850-852)gCt>gGt p.A284G PARPBP_ENST00000541394.1_Missense_Mutation_p.A442G|PARPBP_ENST00000392911.2_Missense_Mutation_p.A284G|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000358383.5_Missense_Mutation_p.A365G NM_017915.3 NP_060385.3 Q9NWS1 PR1BP_HUMAN PARP1 binding protein 365 response to DNA damage stimulus cytoplasm|nucleus DNA binding endometrium(1)|lung(8)|urinary_tract(2) 11 GAAGAAGCAGCTAATGCTCCT 0.378000 11 79 0 0 0.387290 0 0 LRRC7 57554 broad.mit.edu 37 1 70504158 70504158 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:70504158C>T ENST00000310961.5 + 22 2970 c.2552C>T c.(2551-2553)aCc>aTc p.T851I LRRC7_ENST00000035383.5_Missense_Mutation_p.T846I|LRRC7_ENST00000415775.2_Missense_Mutation_p.T130I Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 846 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CAGAATTGGACCAGAACCCCT 0.488000 13 150 0 0 0.411799 0 0 TTN 7273 broad.mit.edu 37 2 179497064 179497064 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr2:179497064C>T ENST00000589042.1 - 236 43781 c.43557G>A c.(43555-43557)gaG>gaA p.E14519E TTN_ENST00000342992.6_Silent_p.E11951E|TTN_ENST00000342175.6_Silent_p.E5646E|TTN_ENST00000460472.2_Silent_p.E5454E|TTN_ENST00000359218.5_Silent_p.E5579E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.E12878E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12878 Fibronectin type-III 5. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATGAGATAACTCCACAGTAA 0.428000 3 16 0 0 0.115264 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140810927 140810927 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr5:140810927G>A ENST00000252085.3 + 1 743 c.601G>A c.(601-603)Gac>Aac p.D201N PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCGCCCTGGACCGCGAAGA 0.627000 46 179 0 0 0.870114 0 0 RBL1 5933 broad.mit.edu 37 20 35696492 35696492 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr20:35696492C>T ENST00000373664.3 - 3 454 c.388G>A c.(388-390)Gag>Aag p.E130K RBL1_ENST00000344359.3_Missense_Mutation_p.E130K NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 130 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) GTAGACACCTCAAAATTTCTC 0.313000 8 69 0 0 0.278610 0 0 LINC00969 440993 broad.mit.edu 37 3 195404651 195404651 + RNA SNP C C G rs1996904 by1000genomes TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr3:195404651C>G ENST00000445430.1 + 0 1508 TGTCACGAATCTTGACAAATT 0.418000 3 69 0 0 0.150653 0 0 RBM17 84991 broad.mit.edu 37 10 6139143 6139143 + Nonsense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr10:6139143C>T ENST00000446108.1 + 2 759 c.115C>T c.(115-117)Cag>Tag p.Q39* RBM17_ENST00000379888.4_Nonsense_Mutation_p.Q39* NM_001145547.1 NP_001139019.1 Q96I25 SPF45_HUMAN RNA binding motif protein 17 39 mRNA processing|RNA splicing spliceosomal complex nucleotide binding|protein binding|RNA binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 19 AGCTCTCACTCAGGCAAAGGT 0.493000 12 112 0 0 0.411799 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20190890 20190890 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chrX:20190890C>T ENST00000379565.3 - 15 1534 c.1327G>A c.(1327-1329)Gct>Act p.A443T RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.A413T|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.A415T|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.A414T NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 443 Protein kinase 2. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 ATGTTTGTAGCTTTATGTATA 0.333000 11 33 0 0 0.361761 0 0 PLEC 5339 broad.mit.edu 37 8 144991144 144991144 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr8:144991144C>T ENST00000322810.4 - 32 13425 c.13256G>A c.(13255-13257)gGc>gAc p.G4419D PLEC_ENST00000357649.2_Missense_Mutation_p.G4286D|PLEC_ENST00000436759.2_Missense_Mutation_p.G4309D|PLEC_ENST00000527096.1_Missense_Mutation_p.G4305D|PLEC_ENST00000345136.3_Missense_Mutation_p.G4282D|PLEC_ENST00000354589.3_Missense_Mutation_p.G4282D|PLEC_ENST00000356346.3_Missense_Mutation_p.G4268D|PLEC_ENST00000354958.2_Missense_Mutation_p.G4260D|PLEC_ENST00000398774.2_Missense_Mutation_p.G4250D NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4419 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GTCCAGGATGCCAGCCACGGG 0.672000 4 110 0 0 0.150653 0 0 UCP2 7351 broad.mit.edu 37 11 73689376 73689376 + Missense_Mutation SNP C C A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr11:73689376C>A ENST00000310473.3 - 3 890 c.48G>T c.(46-48)aaG>aaT p.K16N UCP2_ENST00000536983.1_Missense_Mutation_p.K16N NM_003355.2 NP_003346.2 P55851 UCP2_HUMAN uncoupling protein 2 (mitochondrial, proton carrier) 16 proton transport|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|prostate(1) 5 Breast(11;0.000112) CCCCAAGAAACTTCACAGTGG 0.547000 19 63 1.96292e-10 2.18754e-10 0.592651 1 0 ALPK2 115701 broad.mit.edu 37 18 56203584 56203584 + Silent SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr18:56203584G>A ENST00000361673.3 - 5 4048 c.3835C>T c.(3835-3837)Cta>Tta p.L1279L RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1279 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TCTGCCTTTAGACTATCAGGT 0.502000 29 237 0 0 0.750413 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717278 222717278 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:222717278C>T ENST00000343410.6 - 2 633 c.575G>A c.(574-576)cGc>cAc p.R192H NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 192 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding p.R192L(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) GCCCAGGTGGCGGTTGAGATA 0.602000 10 117 0 0 0.335167 0 0 ERLIN1 10613 broad.mit.edu 37 10 101914691 101914691 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr10:101914691C>T ENST00000421367.2 - 10 3458 c.751G>A c.(751-753)Gca>Aca p.A251T ERLIN1_ENST00000407654.3_Missense_Mutation_p.A251T NM_001100626.1|NM_006459.3 NP_001094096.1|NP_006450.2 O75477 ERLN1_HUMAN ER lipid raft associated 1 249 ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding Colorectal(252;0.234) Epithelial(162;3.85e-10)|all cancers(201;3.25e-08) GCCAGGAATGCAGCATCTAGC 0.453000 6 53 0 0 0.217242 0 0 ATP11C 286410 broad.mit.edu 37 X 138880468 138880468 + Missense_Mutation SNP T T C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chrX:138880468T>C ENST00000370557.1 - 10 1848 c.821A>G c.(820-822)tAc>tGc p.Y274C ATP11C_ENST00000327569.3_Missense_Mutation_p.Y277C|ATP11C_ENST00000370543.1_Missense_Mutation_p.Y277C|ATP11C_ENST00000361648.2_Missense_Mutation_p.Y277C|ATP11C_ENST00000359686.2_Missense_Mutation_p.Y277C Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 277 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) TTTCCCTTGGTAGTTCAAAGC 0.338000 27 116 0 0 0.693898 0 0 CRMP1 1400 broad.mit.edu 37 4 5862865 5862865 + Silent SNP G G A rs145307270 TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr4:5862865G>A ENST00000324989.7 - 3 631 c.543C>T c.(541-543)ccC>ccT p.P181P CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Silent_p.P67P|CRMP1_ENST00000512574.1_Silent_p.P65P NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 67 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) CAATACCTCCGGGAATAACCA 0.552000 5 219 0 0 0.248553 0 0 NME8 51314 broad.mit.edu 37 7 37916515 37916515 + Missense_Mutation SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr7:37916515G>C ENST00000199447.4 + 12 1272 c.900G>C c.(898-900)atG>atC p.M300I EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.M300I NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 300 cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity CTAAGTTCATGGATGCTTTCT 0.353000 7 72 0 0 0.248553 0 0 TRPM5 29850 broad.mit.edu 37 11 2434717 2434717 + Silent SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr11:2434717G>A ENST00000452833.1 - 13 2006 c.1998C>T c.(1996-1998)ctC>ctT p.L666L TRPM5_ENST00000533060.1_Silent_p.L664L|TRPM5_ENST00000155858.6_Silent_p.L664L|TRPM5_ENST00000528453.1_Silent_p.L664L Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 664 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) TGAAGGTGATGAGGTTGGTAT 0.682000 5 17 0 0 0.184627 0 0 TAF6 6878 broad.mit.edu 37 7 99711299 99711299 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr7:99711299C>T ENST00000344095.4 - 4 862 c.337G>A c.(337-339)Gat>Aat p.D113N TAF6_ENST00000472509.1_Missense_Mutation_p.D170N|TAF6_ENST00000418432.2_Missense_Mutation_p.D56N|TAF6_ENST00000453269.2_Missense_Mutation_p.D113N|TAF6_ENST00000452041.1_Missense_Mutation_p.D113N|TAF6_ENST00000437822.2_Missense_Mutation_p.D150N NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 113 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCGCTCAGATCAACCTCCTTC 0.607000 24 177 0 0 0.667858 0 0 NPAS3 64067 broad.mit.edu 37 14 34145431 34145431 + Silent SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr14:34145431C>G ENST00000346562.2 + 5 551 c.477C>G c.(475-477)ggC>ggG p.G159G NPAS3_ENST00000547068.1_Silent_p.G87G|NPAS3_ENST00000551492.1_Silent_p.G196G|NPAS3_ENST00000548645.1_Silent_p.G161G|NPAS3_ENST00000357798.5_Silent_p.G178G|NPAS3_ENST00000341321.4_Silent_p.G191G|NPAS3_ENST00000356141.4_Silent_p.G191G|NPAS3_ENST00000551008.1_Silent_p.G89G NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 191 PAS 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) AGCTGACAGGCAGCAGTGTCT 0.537000 35 167 0 0 0.853193 0 0 ABCA10 10349 broad.mit.edu 37 17 67149444 67149444 + Splice_Site SNP A A T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr17:67149444A>T ENST00000269081.4 - 35 5046 c.e35+1 ABCA10_ENST00000519732.1_Splice_Site|ABCA10_ENST00000416101.2_Splice_Site NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) CACTCTCCTTACCACATTTGC 0.453000 15 161 0 0 0.500413 0 0 OR14I1 401994 broad.mit.edu 37 1 248845518 248845518 + Missense_Mutation SNP G G T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:248845518G>T ENST00000342623.3 - 1 111 c.88C>A c.(88-90)Ctg>Atg p.L30M NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 TAAATCAGCAGAAACAGCCCG 0.493000 4 66 0.248553 0.251927 0.248553 1 0 PCDHB6 56130 broad.mit.edu 37 5 140530481 140530481 + Missense_Mutation SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr5:140530481G>C ENST00000231136.1 + 1 643 c.643G>C c.(643-645)Gat>Cat p.D215H PCDHB6_ENST00000543635.1_Missense_Mutation_p.D79H NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 215 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GATCGCGCTGGATGGCGGGTC 0.602000 6 92 0 0 0.248553 0 0 GLI1 2735 broad.mit.edu 37 12 57858619 57858619 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr12:57858619C>T ENST00000228682.2 + 4 448 c.357C>T c.(355-357)ggC>ggT p.G119G GLI1_ENST00000546141.1_Silent_p.G78G|GLI1_ENST00000543426.1_5'UTR NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 119 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CTCCAGGAGGCTCCTACGGTC 0.587000 22 123 0 0 0.681144 0 0 KIAA1614 57710 broad.mit.edu 37 1 180885439 180885439 + Missense_Mutation SNP C C A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:180885439C>A ENST00000367588.4 + 2 255 c.200C>A c.(199-201)cCc>cAc p.P67H NM_020950.1 NP_066001.1 Q5VZ46 K1614_HUMAN KIAA1614 67 NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 33 CTGATGGCCCCCCAGCCTCCC 0.602000 8 68 0.000157383 0.000166292 0.278610 1 0 OR8H1 219469 broad.mit.edu 37 11 56058044 56058044 + Silent SNP C C A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr11:56058044C>A ENST00000313022.2 - 1 522 c.495G>T c.(493-495)ctG>ctT p.L165L NM_001005199.1 NP_001005199.1 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, member 1 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L165L(3) NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) CGCAGAAATGCAGTCTGCTCA 0.433000 5 145 0.014758 0.0151642 0.184627 1 0 SCLT1 132320 broad.mit.edu 37 4 129864201 129864201 + Missense_Mutation SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr4:129864201C>G ENST00000281142.5 - 17 2085 c.1582G>C c.(1582-1584)Gag>Cag p.E528Q SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 528 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 CTTAAACTCTCAGTCTCTTTC 0.363000 13 240 0 0 0.479597 0 0 RGS3 5998 broad.mit.edu 37 9 116276859 116276859 + Silent SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr9:116276859G>A ENST00000374140.2 + 16 1808 c.1599G>A c.(1597-1599)ccG>ccA p.P533P RGS3_ENST00000343817.5_Silent_p.P252P|RGS3_ENST00000350696.5_Silent_p.P533P|RGS3_ENST00000374136.1_Silent_p.P159P|RGS3_ENST00000317613.6_Silent_p.P421P|RGS3_ENST00000394646.3_Silent_p.P252P NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 533 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 TTGTGAGGCCGCATGCCACGC 0.587000 4 129 0 0 0.184627 0 0 ALPK3 57538 broad.mit.edu 37 15 85384080 85384080 + Missense_Mutation SNP G G T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr15:85384080G>T ENST00000258888.5 + 5 2343 c.2176G>T c.(2176-2178)Gtg>Ttg p.V726L NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 726 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTCTGTGCAGGTGCCGACGCC 0.637000 18 52 1.02788e-11 1.15701e-11 0.520397 1 0 NAGA 4668 broad.mit.edu 37 22 42456988 42456988 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr22:42456988C>T ENST00000396398.3 - 8 1573 c.1041G>A c.(1039-1041)atG>atA p.M347I NAGA_ENST00000402937.1_Missense_Mutation_p.M347I|NAGA_ENST00000403363.1_Missense_Mutation_p.M347I NM_000262.2 NP_000253.1 P17050 NAGAB_HUMAN N-acetylgalactosaminidase, alpha- 347 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 AGCGATAAGGCATATCGGTCC 0.567000 15 116 0 0 0.479597 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42116702 42116702 + Nonsense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr15:42116702C>T ENST00000457542.2 + 30 4520 c.4234C>T c.(4234-4236)Cag>Tag p.Q1412* MAPKBP1_ENST00000456763.2_Nonsense_Mutation_p.Q1418*|MAPKBP1_ENST00000260357.7_Nonsense_Mutation_p.Q1251*|MAPKBP1_ENST00000514566.1_Nonsense_Mutation_p.Q1135*|MAPKBP1_ENST00000221214.6_Nonsense_Mutation_p.Q1295* NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 1418 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GAGCCTGGAGCAGTGTGAGCA 0.652000 5 22 0 0 0.184627 0 0 NRG2 9542 broad.mit.edu 37 5 139422017 139422017 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr5:139422017G>A ENST00000541337.1 - 1 867 c.638C>T c.(637-639)cCc>cTc p.P213L NRG2_ENST00000394770.1_Missense_Mutation_p.P213L|NRG2_ENST00000545385.1_Missense_Mutation_p.P213L|NRG2_ENST00000289409.4_Missense_Mutation_p.P213L|NRG2_ENST00000361474.1_Missense_Mutation_p.P213L|NRG2_ENST00000358522.3_Missense_Mutation_p.P213L|NRG2_ENST00000289422.7_Missense_Mutation_p.P213L NM_001184935.1 NP_001171864.1 O14511 NRG2_HUMAN neuregulin 2 213 embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTATCGAGGGGGGCAAAGGC 0.572000 3 8 0 0 0.115264 0 0 SCN1A 6323 broad.mit.edu 37 2 166868758 166868758 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr2:166868758G>A ENST00000423058.2 - 19 3757 c.3740C>T c.(3739-3741)aCg>aTg p.T1247M AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.T1247M|SCN1A_ENST00000409050.1_Missense_Mutation_p.T1219M|SCN1A_ENST00000375405.3_Missense_Mutation_p.T1236M|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1247 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CGTCTTAATCGTCTTTCGCTG 0.294000 12 42 0 0 0.435327 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543116 182543116 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr2:182543116G>A ENST00000295108.3 - 2 929 c.472C>T c.(472-474)Cgc>Tgc p.R158C NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 158 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) TTGCCTGAGCGCAGGATCTCC 0.562000 8 130 0 0 0.278610 0 0 TRRAP 8295 broad.mit.edu 37 7 98608706 98608706 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr7:98608706G>A ENST00000359863.4 + 70 11137 c.10928G>A c.(10927-10929)aGt>aAt p.S3643N TRRAP_ENST00000446306.3_Missense_Mutation_p.S3632N|TRRAP_ENST00000355540.3_Missense_Mutation_p.S3614N NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3643 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GAGGTTCAGAGTAACATGGTG 0.527000 24 50 0 0 0.639603 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28333970 28333970 + Nonsense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr6:28333970C>T ENST00000377255.3 + 7 1822 c.1525C>T c.(1525-1527)Cag>Tag p.Q509* ZKSCAN3_ENST00000341464.5_Nonsense_Mutation_p.Q361*|ZKSCAN3_ENST00000252211.2_Nonsense_Mutation_p.Q509* NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 509 positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 GAAACCCTATCAGTGTAATGC 0.413000 7 78 0 0 0.248553 0 0 WDR62 284403 broad.mit.edu 37 19 36562559 36562559 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr19:36562559C>T ENST00000401500.2 + 8 1019 c.984C>T c.(982-984)ctC>ctT p.L328L WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000270301.7_Silent_p.L328L|WDR62_ENST00000388999.3_Silent_p.L328L NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 328 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TGCACTACCTCGCCAACCTGC 0.622000 10 93 0 0 0.361761 0 0 ADORA1 134 broad.mit.edu 37 1 203134708 203134708 + Missense_Mutation SNP G G T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:203134708G>T ENST00000367236.4 + 3 1582 c.661G>T c.(661-663)Gac>Tac p.D221Y ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.D221Y|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.D221Y NM_001048230.1 NP_001041695.1 P30542 AA1R_HUMAN adenosine A1 receptor 221 induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) CTCCTCCGGCGACCCGCAGAA 0.582000 17 157 2.37509e-13 2.68697e-13 0.592651 1 0 TAF6 6878 broad.mit.edu 37 7 99711569 99711569 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr7:99711569C>T ENST00000344095.4 - 3 690 c.165G>A c.(163-165)ttG>ttA p.L55L TAF6_ENST00000472509.1_Silent_p.L112L|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000453269.2_Silent_p.L55L|TAF6_ENST00000452041.1_Silent_p.L55L|TAF6_ENST00000437822.2_Silent_p.L92L NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 55 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCATGAACTTCAAGGCATCCT 0.557000 19 117 0 0 0.557998 0 0 KRI1 65095 broad.mit.edu 37 19 10665764 10665764 + Splice_Site SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr19:10665764C>G ENST00000312962.6 - 18 1817 c.1799_splice c.e18+1 p.E600_splice KRI1_ENST00000361821.5_Splice_Site_p.E596_splice NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 600 NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) actgcttactcttctCGGCAG 0.592000 7 83 0 0 0.248553 0 0 SKA3 221150 broad.mit.edu 37 13 21742409 21742409 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr13:21742409C>T ENST00000314759.5 - 4 585 c.461G>A c.(460-462)cGt>cAt p.R154H SKA3_ENST00000400018.3_Missense_Mutation_p.R154H NM_145061.5 NP_659498.4 Q8IX90 SKA3_HUMAN spindle and kinetochore associated complex subunit 3 154 cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytoplasm|spindle microtubule protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 TTGTGGACTACGTGGAGACTT 0.433000 21 167 0 0 0.639603 0 0 ALPK2 115701 broad.mit.edu 37 18 56203904 56203904 + Missense_Mutation SNP G G A rs140868694 byFrequency TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr18:56203904G>A ENST00000361673.3 - 5 3728 c.3515C>T c.(3514-3516)aCg>aTg p.T1172M RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1172 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TGAGTGGGCCGTGGGCACCAA 0.577000 6 131 0 0 0.654019 0 0 SMG8 55181 broad.mit.edu 37 17 57290700 57290700 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr17:57290700G>A ENST00000543872.2 + 4 2780 c.2516G>A c.(2515-2517)cGa>cAa p.R839Q CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.R839Q Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 839 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 GGAAGACGGCGAGATGACATA 0.463000 26 208 0 0 0.706142 0 0 PTPRT 11122 broad.mit.edu 37 20 41408885 41408885 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr20:41408885C>T ENST00000373198.3 - 4 776 c.541G>A c.(541-543)Gag>Aag p.E181K PTPRT_ENST00000373190.1_Missense_Mutation_p.E181K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E181K|PTPRT_ENST00000373201.1_Missense_Mutation_p.E181K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E181K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E181K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E181K NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 181 MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ACCCGGACCTCGTCCACGGCG 0.527000 12 156 0 0 0.479597 0 0 TMEM8A 58986 broad.mit.edu 37 16 426741 426741 + Missense_Mutation SNP C C A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr16:426741C>A ENST00000431232.2 - 5 867 c.707G>T c.(706-708)gGc>gTc p.G236V TMEM8A_ENST00000250930.3_Missense_Mutation_p.G43V NM_021259.2 NP_067082.2 Q9HCN3 TMM8A_HUMAN transmembrane protein 8A 236 cell adhesion integral to plasma membrane central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1) 14 CACGGGGCAGCCCAGGCTCCC 0.682000 13 29 3.27435e-08 3.59537e-08 0.457914 1 0 ZNF286A 57335 broad.mit.edu 37 17 15611559 15611559 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr17:15611559C>T ENST00000464847.2 + 4 885 c.332C>T c.(331-333)tCa>tTa p.S111L ZNF286A_ENST00000583566.1_Missense_Mutation_p.S111L|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.S111L|ZNF286A_ENST00000580259.1_3'UTR|ZNF286A_ENST00000395893.2_Missense_Mutation_p.S111L|ZNF286A_ENST00000395894.2_Missense_Mutation_p.S111L|ZNF286A_ENST00000472486.1_Missense_Mutation_p.S101L|ZNF286A_ENST00000413242.2_Missense_Mutation_p.S111L|ZNF286A_ENST00000593105.1_Missense_Mutation_p.S101L|ZNF286A_ENST00000585171.1_3'UTR|ZNF286A_ENST00000585194.1_Missense_Mutation_p.S111L Q9HBT8 Z286A_HUMAN zinc finger protein 286A 111 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781) AGCAGCTATTCAGGTGAGCCA 0.423000 11 57 0 0 0.411799 0 0 CRYBG3 131544 broad.mit.edu 37 3 97596124 97596124 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr3:97596124C>T ENST00000182096.4 + 1 306 c.242C>T c.(241-243)aCg>aTg p.T81M NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 TTTCATGATACGTCCGCTGAC 0.423000 12 100 0 0 0.457914 0 0 C17orf97 400566 broad.mit.edu 37 17 263456 263456 + Silent SNP T T C rs71369086 TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr17:263456T>C ENST00000360127.6 + 2 838 c.822T>C c.(820-822)ggT>ggC p.G274G AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 304 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 CCCTCAAGGGTTTCCACACTG 0.682000 4 97 0 0 0.184627 0 0 ENAM 10117 broad.mit.edu 37 4 71507743 71507743 + Silent SNP T T C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr4:71507743T>C ENST00000396073.3 + 9 881 c.600T>C c.(598-600)ttT>ttC p.F200F ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 200 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) ATCCTTACTTTGGATATTTTG 0.353000 70 300 0 0 0.870114 0 0 UBAP2L 9898 broad.mit.edu 37 1 154227358 154227358 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:154227358C>T ENST00000428931.1 + 16 2068 c.1901C>T c.(1900-1902)tCt>tTt p.S634F UBAP2L_ENST00000361546.2_Missense_Mutation_p.S634F|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S634F|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S645F NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 634 binding of sperm to zona pellucida protein binding p.S634C(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACCACACAATCTGTTGAAGGT 0.398000 11 96 0 0 0.457914 0 0 CELSR1 9620 broad.mit.edu 37 22 46787152 46787152 + Missense_Mutation SNP C C A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr22:46787152C>A ENST00000262738.3 - 16 6180 c.6181G>T c.(6181-6183)Gcc>Tcc p.A2061S NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2061 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CAGATGCCGGCCTCAAATGCT 0.607000 OREG0026656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 55 0.27861 0.28112 0.278610 1 0 THAP9 79725 broad.mit.edu 37 4 83839109 83839109 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr4:83839109G>A ENST00000302236.5 + 5 1795 c.1744G>A c.(1744-1746)Gag>Aag p.E582K LIN54_ENST00000505905.1_Intron NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 582 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) GCTCAATGCTGAGAGCTTAAA 0.333000 5 90 0 0 0.184627 0 0 GRXCR1 389207 broad.mit.edu 37 4 42895345 42895345 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr4:42895345C>T ENST00000399770.2 + 1 62 c.62C>T c.(61-63)gCg>gTg p.A21V NM_001080476.2 NP_001073945.1 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 21 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity p.A21V(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1) 32 TTTCGGATCGCGTCCTCTCAC 0.507000 5 181 0 0 0.217242 0 0 RPS5 6193 broad.mit.edu 37 19 58899511 58899511 + Missense_Mutation SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr19:58899511G>C ENST00000596046.1 + 1 856 c.7G>C c.(7-9)Gag>Cag p.E3Q RPS5_ENST00000196551.3_Missense_Mutation_p.E3Q|RPS5_ENST00000601521.1_Missense_Mutation_p.E3Q|RPS5_ENST00000598098.1_Missense_Mutation_p.E3Q|RPS5_ENST00000598495.1_Missense_Mutation_p.E3Q P46782 RS5_HUMAN ribosomal protein S5 3 endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit mRNA binding|structural constituent of ribosome cervix(1)|large_intestine(1)|lung(1)|prostate(1) 4 all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176) CAGGATGACCGAGTGGGAGAC 0.552000 5 35 0 0 0.217242 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 3 92 0 0 0.115264 0 0 GIF 2694 broad.mit.edu 37 11 59603454 59603454 + Missense_Mutation SNP G G T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr11:59603454G>T ENST00000541311.1 - 7 1059 c.825C>A c.(823-825)agC>agA p.S275R GIF_ENST00000257248.2_Missense_Mutation_p.S300R P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 300 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 17 GGCCAGGGTTGCTGGGTAGAG 0.473000 23 245 7.07758e-08 7.73355e-08 0.681144 1 0 ZBTB45 84878 broad.mit.edu 37 19 59028386 59028386 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr19:59028386C>T ENST00000594051.1 - 2 1135 c.655G>A c.(655-657)Gat>Aat p.D219N ZBTB45_ENST00000600990.1_Missense_Mutation_p.D219N|ZBTB45_ENST00000354590.3_Missense_Mutation_p.D219N Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 219 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) TCCTCGCCATCGGTCTCATCG 0.647000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 61 529 0 0 0.870114 0 0 PCDHB6 56130 broad.mit.edu 37 5 140530097 140530097 + Nonsense_Mutation SNP G G T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr5:140530097G>T ENST00000231136.1 + 1 259 c.259G>T c.(259-261)Gaa>Taa p.E87* PCDHB6_ENST00000543635.1_5'UTR NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 87 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTGCTAAATGAAAAACTGGA 0.517000 22 170 2.39556e-15 2.72389e-15 0.639603 1 0 KRI1 65095 broad.mit.edu 37 19 10664771 10664771 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr19:10664771C>T ENST00000312962.6 - 19 2005 c.1986G>A c.(1984-1986)cgG>cgA p.R662R KRI1_ENST00000361821.5_Silent_p.R658R NM_023008.3 NP_075384.3 Q8N9T8 KRI1_HUMAN KRI1 homolog (S. cerevisiae) 662 NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 26 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) GGCCCAGCAGCCGTGCCTTCT 0.647000 16 187 0 0 0.592651 0 0 ASIC5 51802 broad.mit.edu 37 4 156784677 156784677 + Nonsense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr4:156784677C>T ENST00000537611.2 - 2 316 c.270G>A c.(268-270)tgG>tgA p.W90* TDO2_ENST00000506181.1_Intron NM_017419.2 NP_059115.1 Q9NY37 ACCN5_HUMAN acid-sensing (proton-gated) ion channel family member 5 90 integral to membrane|plasma membrane TTGTGGTTGGCCATGTGAAGT 0.428000 4 102 0 0 0.184627 0 0 TMTC2 160335 broad.mit.edu 37 12 83359345 83359345 + Missense_Mutation SNP A A G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr12:83359345A>G ENST00000549919.1 + 7 3478 c.1673A>G c.(1672-1674)tAt>tGt p.Y558C TMTC2_ENST00000321196.3_Missense_Mutation_p.Y564C|TMTC2_ENST00000548305.1_Missense_Mutation_p.Y564C Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 564 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 TCAGCTGCATATTTAAATACC 0.368000 14 108 0 0 0.539581 0 0 RPGR 6103 broad.mit.edu 37 X 38156556 38156556 + Silent SNP G G T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chrX:38156556G>T ENST00000378505.2 - 11 1571 c.1395C>A c.(1393-1395)ctC>ctA p.L465L RPGR_ENST00000309513.3_Silent_p.L403L|RPGR_ENST00000342811.3_Silent_p.L465L|RPGR_ENST00000339363.3_Silent_p.L465L|RPGR_ENST00000338898.3_Silent_p.L465L|RPGR_ENST00000318842.7_Silent_p.L465L|TM4SF2_ENST00000465127.1_Intron NM_001034853.1 NP_001030025.1 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 465 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 CTGGCTGCATGAGGTCCTGTT 0.418000 9 103 3.86212e-05 4.10007e-05 0.361761 1 0 CXorf21 80231 broad.mit.edu 37 X 30578442 30578442 + Missense_Mutation SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chrX:30578442C>G ENST00000378962.3 - 3 353 c.31G>C c.(31-33)Gag>Cag p.E11Q NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 11 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 TTCCAGTACTCAAGTCCACTG 0.418000 13 95 0 0 0.457914 0 0 ECE1 1889 broad.mit.edu 37 1 21560052 21560052 + Splice_Site SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:21560052G>A ENST00000415912.2 - 14 1746 c.1622_splice c.e14+1 p.Q541_splice ECE1_ENST00000436918.2_Splice_Site_p.Q557_splice|ECE1_ENST00000374893.6_Splice_Site_p.Q557_splice|ECE1_ENST00000264205.6_Splice_Site_p.Q554_splice|ECE1_ENST00000357071.4_Splice_Site_p.Q545_splice NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 557 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) GGAACTCACTGATCTCTGTTG 0.577000 10 55 0 0 0.335167 0 0 CD209 30835 broad.mit.edu 37 19 7809920 7809920 + Silent SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr19:7809920G>A ENST00000315599.7 - 5 829 c.807C>T c.(805-807)ttC>ttT p.F269F CD209_ENST00000593660.1_Silent_p.F199F|CD209_ENST00000601256.1_Silent_p.F245F|CD209_ENST00000301357.8_Silent_p.F133F|CD209_ENST00000602261.1_Silent_p.F177F|CD209_ENST00000315591.8_Silent_p.F245F|CD209_ENST00000354397.6_Silent_p.F269F|CD209_ENST00000204801.8_Silent_p.F225F|CD209_ENST00000394161.5_Intron|CD209_ENST00000394173.4_Silent_p.F108F|CD209_ENST00000601951.1_Silent_p.F245F|CD209_ENST00000593821.1_Silent_p.F133F NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 269 C-type lectin. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 AGTTAGACATGAAGTAACAGT 0.562000 20 124 0 0 0.592651 0 0 ACTR3C 653857 broad.mit.edu 37 7 149981865 149981865 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr7:149981865C>T ENST00000539352.1 - 6 792 c.541G>A c.(541-543)Gat>Aat p.D181N ACTR3C_ENST00000252071.4_Missense_Mutation_p.D181N NM_001164458.1 NP_001157930.1 Q9C0K3 ARP3C_HUMAN ARP3 actin-related protein 3 homolog C (yeast) 181 regulation of actin filament polymerization cytoskeleton actin binding|ATP binding CGCCGCACATCGATGGGGCAG 0.398000 6 45 0 0 0.248553 0 0 KIF21A 55605 broad.mit.edu 37 12 39696848 39696848 + Silent SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr12:39696848G>A ENST00000395670.3 - 35 5072 c.4653C>T c.(4651-4653)acC>acT p.T1551T KIF21A_ENST00000361961.3_Silent_p.T1537T|KIF21A_ENST00000361418.5_Silent_p.T1550T|KIF21A_ENST00000541463.2_Silent_p.T1497T|KIF21A_ENST00000544797.2_Silent_p.T1513T Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1550 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) CCCCTTGAATGGTTAGTGCTT 0.403000 5 172 0 0 0.217242 0 0 IGF1R 3480 broad.mit.edu 37 15 99500474 99500474 + Missense_Mutation SNP G G A rs45475702 TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr15:99500474G>A ENST00000268035.6 + 21 4518 c.3907G>A c.(3907-3909)Gtc>Atc p.V1303I IGF1R_ENST00000558762.1_Missense_Mutation_p.V1302I|RP11-654A16.3_ENST00000559468.1_RNA NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 1303 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CATGGAGAGCGTCCCCCTGGA 0.667000 11 54 0 0 0.435327 0 0 ARID4A 5926 broad.mit.edu 37 14 58831004 58831004 + Missense_Mutation SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr14:58831004G>C ENST00000355431.3 + 20 2570 c.2197G>C c.(2197-2199)Gat>Cat p.D733H ARID4A_ENST00000431317.2_Missense_Mutation_p.D733H|ARID4A_ENST00000395168.3_Missense_Mutation_p.D733H|ARID4A_ENST00000348476.3_Missense_Mutation_p.D733H NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 733 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TGATAAGCTAGATGAAGAAAA 0.289000 15 140 0 0 0.479597 0 0 ESYT3 83850 broad.mit.edu 37 3 138178826 138178826 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr3:138178826G>A ENST00000389567.4 + 6 874 c.688G>A c.(688-690)Gtg>Atg p.V230M ESYT3_ENST00000289135.4_Missense_Mutation_p.V230M NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 230 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 GCCCCTCCTAGTGGACAAGCC 0.632000 24 122 0 0 0.667858 0 0 AGBL5 60509 broad.mit.edu 37 2 27279594 27279594 + Missense_Mutation SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr2:27279594G>C ENST00000360131.4 + 8 1628 c.1469G>C c.(1468-1470)aGa>aCa p.R490T AGBL5_ENST00000323064.8_Missense_Mutation_p.R490T NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 490 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGAGACCGTAGAGATGGCCAG 0.463000 28 229 0 0 0.717897 0 0 PCDH7 5099 broad.mit.edu 37 4 30724332 30724332 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr4:30724332G>A ENST00000361762.2 + 1 2296 c.1288G>A c.(1288-1290)Gcc>Acc p.A430T PCDH7_ENST00000543491.1_Missense_Mutation_p.A430T NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 430 Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 GGACGGGGTGGCCAACGTGGC 0.617000 3 58 0 0 0.115264 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045748 26045748 + Missense_Mutation SNP A A T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr6:26045748A>T ENST00000540144.1 + 1 110 c.110A>T c.(109-111)aAg>aTg p.K37M NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 37 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 GGTGGCGTGAAGAAACCTCAT 0.632000 16 80 0 0 0.520397 0 0 C7 730 broad.mit.edu 37 5 40972634 40972634 + Missense_Mutation SNP T T G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr5:40972634T>G ENST00000313164.9 + 15 2371 c.2012T>G c.(2011-2013)tTt>tGt p.F671C C7_ENST00000494960.1_3'UTR NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 671 Sushi 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) CCTTCAGCATTTCTCTGTGGC 0.488000 21 205 0 0 0.639603 0 0 SMG8 55181 broad.mit.edu 37 17 57289009 57289009 + Missense_Mutation SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr17:57289009C>G ENST00000543872.2 + 2 1861 c.1597C>G c.(1597-1599)Cga>Gga p.R533G CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.R533G|SMG8_ENST00000300917.5_Missense_Mutation_p.R533G|SMG8_ENST00000580498.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 533 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding p.R533*(1) NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 CCAGGCTCTTCGAGTGTACAG 0.458000 9 100 0 0 0.335167 0 0 FMOD 2331 broad.mit.edu 37 1 203311480 203311480 + Silent SNP G G A rs141336017 byFrequency TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:203311480G>A ENST00000354955.4 - 3 1585 c.1122C>T c.(1120-1122)atC>atT p.I374I FMOD_ENST00000464898.1_5'UTR NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 374 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) CTCAGATCTCGATGAGGCTGG 0.637000 OREG0014119 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 83 0 0 0.435327 0 0 MFSD9 84804 broad.mit.edu 37 2 103353179 103353179 + Missense_Mutation SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr2:103353179C>G ENST00000258436.5 - 1 134 c.91G>C c.(91-93)Gag>Cag p.E31Q NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 31 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 GCCTCCGCCTCGGTTCCTGTC 0.672000 6 58 0 0 0.217242 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5200364 5200364 + Missense_Mutation SNP A A G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr5:5200364A>G ENST00000274181.7 + 9 1571 c.1433A>G c.(1432-1434)tAt>tGt p.Y478C ADAMTS16_ENST00000511368.1_Missense_Mutation_p.Y478C NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 478 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 AGCCGCCAGTATCTACACAAA 0.517000 12 111 0 0 0.457914 0 0 NUTM2A 728118 broad.mit.edu 37 10 88988216 88988216 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr10:88988216C>T ENST00000381689.4 + 2 910 c.579C>T c.(577-579)tgC>tgT p.C193C NUTM2A_ENST00000381707.2_Silent_p.C193C|NUTM2A-AS1_ENST00000451940.2_RNA NUT family member 2A AGGATGGCTGCGGCCCGAGTG 0.657000 17 171 0 0 0.592651 0 0 SSH2 85464 broad.mit.edu 37 17 27958830 27958830 + Missense_Mutation SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr17:27958830C>G ENST00000269033.3 - 15 3452 c.3301G>C c.(3301-3303)Gaa>Caa p.E1101Q RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.E1128Q NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 1101 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTCTGTCTTCAGGGCTACTC 0.547000 12 116 0 0 0.457914 0 0 GAL3ST1 9514 broad.mit.edu 37 22 30953272 30953272 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr22:30953272C>T ENST00000402321.1 - 2 425 c.108G>A c.(106-108)ccG>ccA p.P36P GAL3ST1_ENST00000401975.1_Silent_p.P36P|GAL3ST1_ENST00000443111.2_Silent_p.P36P|GAL3ST1_ENST00000406361.1_Silent_p.P36P|GAL3ST1_ENST00000402369.1_Silent_p.P36P|GAL3ST1_ENST00000338911.5_Silent_p.P36P|GAL3ST1_ENST00000406955.1_Silent_p.P36P Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 36 protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 CGGCATGCAGCGGGGGCACGG 0.647000 9 116 0 0 0.335167 0 0 TNPO2 30000 broad.mit.edu 37 19 12817445 12817445 + Missense_Mutation SNP T T A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr19:12817445T>A ENST00000425528.1 - 14 1792 c.1435A>T c.(1435-1437)Atg>Ttg p.M479L TNPO2_ENST00000450764.2_Missense_Mutation_p.M479L|TNPO2_ENST00000356861.5_Missense_Mutation_p.M479L|TNPO2_ENST00000588216.1_Missense_Mutation_p.M479L|TNPO2_ENST00000441499.1_Missense_Mutation_p.M479L|TNPO2_ENST00000592287.1_Missense_Mutation_p.M479L O14787 TNPO2_HUMAN transportin 2 479 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AGCTCTGTCATCAGGGGCTTG 0.637000 14 54 0 0 0.457914 0 0 MED1 5469 broad.mit.edu 37 17 37563769 37563769 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr17:37563769C>T ENST00000300651.6 - 17 4928 c.4705G>A c.(4705-4707)Gaa>Aaa p.E1569K MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1569 androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) TCATCATCTTCCTCCCCAATC 0.413000 HNSCC(31;0.082) 28 96 0 0 0.729181 0 0 NCF2 4688 broad.mit.edu 37 1 183532571 183532571 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:183532571C>T ENST00000413720.1 - 11 1315 c.1041G>A c.(1039-1041)ctG>ctA p.L347L NCF2_ENST00000367535.3_Silent_p.L392L|NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000418089.1_Silent_p.L311L|NCF2_ENST00000367536.1_Silent_p.L392L NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 392 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 GAGCTCACCTCAGCTTAGTGT 0.557000 20 339 0 0 0.654019 0 0 KIFC3 3801 broad.mit.edu 37 16 57829031 57829031 + Silent SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr16:57829031G>C ENST00000379655.4 - 3 452 c.195C>G c.(193-195)gtC>gtG p.V65V KIFC3_ENST00000421376.2_5'UTR|KIFC3_ENST00000566975.1_5'UTR|KIFC3_ENST00000541240.1_Silent_p.V87V|KIFC3_ENST00000539578.1_5'UTR|KIFC3_ENST00000465878.2_5'UTR|KIFC3_ENST00000445690.2_Silent_p.V65V NM_005550.3 NP_005541.3 Q9BVG8 KIFC3_HUMAN kinesin family member C3 65 epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens ATP binding|microtubule motor activity breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(199;0.224) CGTCACCGCAGACTGGGGTAT 0.647000 6 53 0 0 0.217242 0 0 MRPL24 79590 broad.mit.edu 37 1 156708205 156708205 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:156708205G>A ENST00000361531.2 - 3 345 c.209C>T c.(208-210)gCc>gTc p.A70V MRPL24_ENST00000368211.4_Missense_Mutation_p.A70V Q96A35 RM24_HUMAN mitochondrial ribosomal protein L24 70 KOW. translation mitochondrion|ribosome structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(4) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTGCTTCCCGGCATCCTTGCC 0.567000 7 460 0 0 0.278610 0 0 TET2 54790 broad.mit.edu 37 4 106157315 106157315 + Missense_Mutation SNP C C A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr4:106157315C>A ENST00000513237.1 + 3 3076 c.2279C>A c.(2278-2280)cCt>cAt p.P760H TET2_ENST00000413648.2_Missense_Mutation_p.P739H|TET2_ENST00000305737.2_Missense_Mutation_p.P739H|TET2_ENST00000545826.1_Missense_Mutation_p.P739H|TET2_ENST00000380013.4_Missense_Mutation_p.P739H|TET2_ENST00000394764.1_Missense_Mutation_p.P739H|TET2_ENST00000540549.1_Missense_Mutation_p.P739H Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 739 Gln-rich. cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) TCACATCTCCCTCAAAACCAG 0.418000 """Mis N, F""" MDS 4 105 0.150653 0.153393 0.150653 1 0 RYR3 6263 broad.mit.edu 37 15 33936544 33936544 + Missense_Mutation SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr15:33936544C>G ENST00000389232.4 + 28 3659 c.3589C>G c.(3589-3591)Cag>Gag p.Q1197E RYR3_ENST00000415757.3_Missense_Mutation_p.Q1197E NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1197 4 X approximate repeats.|B30.2/SPRY 2. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGGTCTATCTCAGATCGGCCG 0.527000 9 32 0 0 0.335167 0 0 CSPG5 10675 broad.mit.edu 37 3 47619197 47619197 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr3:47619197C>T ENST00000383738.2 - 2 2417 c.319G>A c.(319-321)Ggc>Agc p.G107S CSPG5_ENST00000456150.1_5'UTR|CSPG5_ENST00000465441.1_5'UTR|CSPG5_ENST00000264723.4_Missense_Mutation_p.G107S NM_001206943.1|NM_001206945.1 NP_001193872.1|NP_001193874.1 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan C) 107 cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CCTCCCAGGCCTGGGCTGTCA 0.716000 10 76 0 0 0.387290 0 0 TEX13A 56157 broad.mit.edu 37 X 104464803 104464803 + Silent SNP C C A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chrX:104464803C>A ENST00000372578.3 - 2 390 c.279G>T c.(277-279)ctG>ctT p.L93L TEX13A_ENST00000372575.1_Silent_p.L93L|IL1RAPL2_ENST00000344799.4_Intron|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000413579.1_Silent_p.L93L NM_031274.3 NP_112564.1 Q9BXU3 TX13A_HUMAN testis expressed 13A 93 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 CGAAGCCGTGCAGCCACCGCA 0.632000 9 41 0.000274275 0.000287092 0.307466 1 0 FGFR1OP 11116 broad.mit.edu 37 6 167427050 167427050 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr6:167427050G>A ENST00000366847.3 + 7 805 c.574G>A c.(574-576)Gac>Aac p.D192N FGFR1OP_ENST00000349556.4_Intron NM_007045.2 NP_008976.1 O95684 FR1OP_HUMAN FGFR1 oncogene partner 192 G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation centrosome|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity large_intestine(2)|ovary(1)|stomach(1) 4 Breast(66;1.48e-05)|Ovarian(120;0.0607) OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231) GAAGGCTGGTGACAAGGTAAC 0.488000 T FGFR1 """MPD, NHL""" 6 97 0 0 0.278610 0 0 DNAH17 8632 broad.mit.edu 37 17 76570998 76570998 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr17:76570998C>T ENST00000389840.5 - 2 266 c.142G>A c.(142-144)Gac>Aac p.D48N DNAH17_ENST00000585328.1_Missense_Mutation_p.D48N dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ACCTGGACGTCGGGCTTTTCA 0.562000 14 67 0 0 0.435327 0 0 TAF6 6878 broad.mit.edu 37 7 99711776 99711776 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr7:99711776C>T ENST00000344095.4 - 2 582 c.57G>A c.(55-57)atG>atA p.M19I TAF6_ENST00000472509.1_Missense_Mutation_p.M76I|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000453269.2_Missense_Mutation_p.M19I|TAF6_ENST00000452041.1_Missense_Mutation_p.M19I|TAF6_ENST00000437822.2_Missense_Mutation_p.M56I NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 19 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCACCACCTTCATGGACTCCG 0.572000 29 181 0 0 0.740014 0 0 JAG1 182 broad.mit.edu 37 20 10625009 10625009 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr20:10625009G>A ENST00000254958.5 - 19 2883 c.2368C>T c.(2368-2370)Ccc>Tcc p.P790S JAG1_ENST00000423891.2_Missense_Mutation_p.P631S NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 790 EGF-like 15; calcium-binding (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 ACTTACCAGGGATGAGGGCTG 0.463000 Alagille Syndrome 4 41 0 0 0.184627 0 0 FECH 2235 broad.mit.edu 37 18 55218580 55218580 + Silent SNP A A G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr18:55218580A>G ENST00000262093.5 - 10 1255 c.1104T>C c.(1102-1104)gcT>gcC p.A368A FECH_ENST00000382873.3_Silent_p.A374A NM_000140.3|NM_001012515.2 NP_000131.2|NP_001012533.1 P22830 HEMH_HUMAN ferrochelatase 368 generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 15 Colorectal(73;0.227) TAAGAGACTCAGCTCTTCTGA 0.343000 6 75 0 0 0.217242 0 0 TAF6 6878 broad.mit.edu 37 7 99711834 99711834 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr7:99711834C>T ENST00000472509.1 - 1 347 c.170G>A c.(169-171)aGa>aAa p.R57K TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000453269.2_5'UTR|TAF6_ENST00000452041.1_5'UTR|TAF6_ENST00000344095.4_5'UTR|TAF6_ENST00000437822.2_Missense_Mutation_p.R37K P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 0 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTCAGCCATTCTGGAGTCCCT 0.572000 18 147 0 0 0.557998 0 0 RASSF9 9182 broad.mit.edu 37 12 86198832 86198832 + Missense_Mutation SNP T T G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr12:86198832T>G ENST00000361228.3 - 2 1324 c.956A>C c.(955-957)aAg>aCg p.K319T NM_005447.3 NP_005438.2 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 319 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CAAATCACACTTAACACTCTC 0.368000 39 363 0 0 0.827153 0 0 BAIAP2 10458 broad.mit.edu 37 17 79058642 79058642 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr17:79058642C>T ENST00000321300.6 + 4 321 c.228C>T c.(226-228)ctC>ctT p.L76L BAIAP2_ENST00000428708.2_Silent_p.L76L|BAIAP2_ENST00000321280.7_Silent_p.L76L|BAIAP2_ENST00000575245.1_Silent_p.L109L|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000575712.1_Silent_p.L76L|BAIAP2_ENST00000392411.3_5'UTR|BAIAP2_ENST00000435091.3_Silent_p.L76L NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 76 IMD. axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GAGACGTTCTCTTCCAGATGG 0.622000 35 298 0 0 0.769981 0 0 SWAP70 23075 broad.mit.edu 37 11 9750966 9750966 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr11:9750966C>T ENST00000318950.6 + 6 969 c.866C>T c.(865-867)tCa>tTa p.S289L SWAP70_ENST00000447399.2_Missense_Mutation_p.S231L NM_015055.2 NP_055870.2 Q9UH65 SWP70_HUMAN SWAP switching B-cell complex 70kDa subunit 289 PH. cytoplasm|lamellipodium|nucleus|plasma membrane calcium ion binding|DNA binding NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 11 all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649) ATCAGTGCTTCAGATAAGAAG 0.318000 7 75 0 0 0.248553 0 0 HYDIN 54768 broad.mit.edu 37 16 70841774 70841774 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr16:70841774C>T ENST00000393567.2 - 86 15225 c.15075G>A c.(15073-15075)aaG>aaA p.K5025K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 5025 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GACCTTGGGGCTTGGGAGGCA 0.542000 7 115 0 0 0.248553 0 0 STIL 6491 broad.mit.edu 37 1 47737808 47737808 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:47737808C>T ENST00000360380.3 - 14 2686 c.2323G>A c.(2323-2325)Gaa>Aaa p.E775K STIL_ENST00000337817.5_Missense_Mutation_p.E775K|STIL_ENST00000243182.6_Missense_Mutation_p.E775K|STIL_ENST00000396221.2_Missense_Mutation_p.E775K|STIL_ENST00000371877.3_Missense_Mutation_p.E775K Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 775 PIN1-binding (By similarity). cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) GACTGTGCTTCCACAGAAACC 0.433000 4 79 0 0 0.150653 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140812206 140812206 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr5:140812206G>A ENST00000252085.3 + 1 2022 c.1880G>A c.(1879-1881)cGc>cAc p.R627H PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGAGGTGCGCACGGCGCGA 0.687000 10 112 0 0 0.435327 0 0 MCF2L2 23101 broad.mit.edu 37 3 182925545 182925545 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr3:182925545C>T ENST00000328913.3 - 23 2860 c.2563G>A c.(2563-2565)Gat>Aat p.D855N MCF2L2_ENST00000473233.1_Missense_Mutation_p.D855N NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 855 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TTATAACGATCCTTGTGAATT 0.423000 20 84 0 0 0.592651 0 0 SLFN13 146857 broad.mit.edu 37 17 33770858 33770858 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr17:33770858G>A ENST00000285013.6 - 4 1423 c.1148C>T c.(1147-1149)tCt>tTt p.S383F SLFN13_ENST00000360502.2_Missense_Mutation_p.S65F|SLFN13_ENST00000533791.1_Missense_Mutation_p.S383F|SLFN13_ENST00000534689.1_Missense_Mutation_p.S65F|SLFN13_ENST00000526861.1_Missense_Mutation_p.S383F|SLFN13_ENST00000542635.1_Missense_Mutation_p.S383F NM_144682.5 NP_653283.3 Q68D06 SLN13_HUMAN schlafen family member 13 383 intracellular ATP binding NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 31 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) ACCTTTCTTAGAATACACTGG 0.398000 10 96 0 0 0.335167 0 0 PHOX2B 8929 broad.mit.edu 37 4 41748274 41748274 + Silent SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr4:41748274G>A ENST00000226382.2 - 3 854 c.495C>T c.(493-495)gcC>gcT p.A165A NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 165 Poly-Ala. positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 TCTTGGCCGCGGCCGCTGCGG 0.657000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 8 35 0 0 0.411799 0 0 SCP2D1 140856 broad.mit.edu 37 20 18794470 18794470 + Missense_Mutation SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr20:18794470G>C ENST00000377428.2 + 1 101 c.11G>C c.(10-12)aGa>aCa p.R4T C20orf78_ENST00000278779.4_Intron NM_178483.2 NP_848578.1 SCP2 sterol-binding domain containing 1 ATGTGGAAGAGAAGTGACCAT 0.512000 12 98 0 0 0.411799 0 0 EXTL2 2135 broad.mit.edu 37 1 101339860 101339860 + Missense_Mutation SNP C C A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:101339860C>A ENST00000370114.3 - 5 2067 c.631G>T c.(631-633)Gtg>Ttg p.V211L EXTL2_ENST00000535414.1_Missense_Mutation_p.V198L|EXTL2_ENST00000370113.3_Missense_Mutation_p.V211L NM_001033025.2|NM_001261440.1 NP_001028197.1|NP_001248369.1 Q9UBQ6 EXTL2_HUMAN exostosin-like glycosyltransferase 2 211 N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 14 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) CCAATCAGCACCATAGAGTAC 0.413000 10 94 2.17888e-05 2.33526e-05 0.335167 1 0 RELN 5649 broad.mit.edu 37 7 103191542 103191542 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr7:103191542C>T ENST00000428762.1 - 41 6433 c.6274G>A c.(6274-6276)Gtg>Atg p.V2092M RELN_ENST00000343529.5_Missense_Mutation_p.V2092M|RELN_ENST00000424685.2_Missense_Mutation_p.V2092M NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2092 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCAAAGTGCACGACCTCCCTC 0.552000 9 54 0 0 0.307466 0 0 GDA 9615 broad.mit.edu 37 9 74828816 74828816 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr9:74828816C>T ENST00000358399.3 + 5 580 c.487C>T c.(487-489)Cgg>Tgg p.R163W GDA_ENST00000376989.3_Missense_Mutation_p.R138W|GDA_ENST00000545168.1_Missense_Mutation_p.R89W|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000376986.1_Missense_Mutation_p.R121W|GDA_ENST00000238018.4_Missense_Mutation_p.R163W NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 163 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) ATTTGGACAGCGGGCATTTGT 0.348000 14 55 0 0 0.479597 0 0 EFEMP1 2202 broad.mit.edu 37 2 56144916 56144916 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr2:56144916C>T ENST00000394555.2 - 4 836 c.401G>A c.(400-402)cGa>cAa p.R134Q EFEMP1_ENST00000424836.2_Missense_Mutation_p.R76Q|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R134Q|EFEMP1_ENST00000394554.1_Missense_Mutation_p.R134Q NM_001039348.2|NM_001039349.2 NP_001034437.1|NP_001034438.1 Q12805 FBLN3_HUMAN EGF containing fibulin-like extracellular matrix protein 1 134 negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) AAAGTTATTTCGGCCAGTCTG 0.587000 17 109 0 0 0.520397 0 0 MAPK15 225689 broad.mit.edu 37 8 144803252 144803252 + Missense_Mutation SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr8:144803252G>C ENST00000338033.4 + 10 1119 c.1000G>C c.(1000-1002)Gag>Cag p.E334Q NM_139021.2 NP_620590.2 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 334 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CTCTGTGCCTGAGTACCGCAG 0.652000 4 32 0 0 0.150653 0 0 LZTR1 8216 broad.mit.edu 37 22 21347982 21347982 + Missense_Mutation SNP A A T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr22:21347982A>T ENST00000215739.8 + 12 1651 c.1292A>T c.(1291-1293)gAg>gTg p.E431V LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.E412V NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 431 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) ACGCTGCACGAGGACTACGGG 0.637000 11 43 0 0 0.435327 0 0 ATP10B 23120 broad.mit.edu 37 5 160097667 160097667 + Missense_Mutation SNP G G T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr5:160097667G>T ENST00000327245.5 - 7 1324 c.478C>A c.(478-480)Cag>Aag p.Q160K NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 160 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.Q160K(1) NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACATAGGTCTGCTCTTTTCTT 0.458000 24 164 9.80776e-20 1.12663e-19 0.706142 1 0 TMPRSS11D 9407 broad.mit.edu 37 4 68725342 68725342 + Silent SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr4:68725342G>A ENST00000283916.6 - 2 161 c.63C>T c.(61-63)ttC>ttT p.F21F TMPRSS11D_ENST00000509584.1_Intron|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Intron NM_004262.2 NP_004253.1 O60235 TM11D_HUMAN transmembrane protease, serine 11D 21 proteolysis|respiratory gaseous exchange extracellular region|integral to plasma membrane serine-type endopeptidase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 CGACGACAATGAAACATACTA 0.383000 5 97 0 0 0.184627 0 0 CDADC1 81602 broad.mit.edu 37 13 49833572 49833572 + Missense_Mutation SNP C C A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr13:49833572C>A ENST00000251108.6 + 4 456 c.343C>A c.(343-345)Ctt>Att p.L115I CDADC1_ENST00000444959.1_Intron|CDADC1_ENST00000538056.1_Missense_Mutation_p.L115I NM_001193478.1|NM_030911.3 NP_001180407.1|NP_112173.1 Q9BWV3 CDAC1_HUMAN cytidine and dCMP deaminase domain containing 1 115 hydrolase activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 16 Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216) GCAGATTGCTCTTATTAAACA 0.368000 47 107 6.21074e-16 7.09799e-16 0.859065 1 0 SUN5 140732 broad.mit.edu 37 20 31572920 31572920 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr20:31572920C>T ENST00000356173.3 - 12 1061 c.969G>A c.(967-969)caG>caA p.Q323Q SUN5_ENST00000375523.3_Silent_p.Q298Q NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 323 SUN. spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 GTGGGAACATCTGGATGATGT 0.577000 17 153 0 0 0.500413 0 0 SORBS2 8470 broad.mit.edu 37 4 186544853 186544853 + Missense_Mutation SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr4:186544853G>C ENST00000431808.1 - 14 2281 c.1718C>G c.(1717-1719)tCt>tGt p.S573C SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.S673C|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.S573C|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.S477C O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 573 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CAGGGCGTTAGACTGGCAGCC 0.592000 17 82 0 0 0.557998 0 0 RAD54L 8438 broad.mit.edu 37 1 46736347 46736347 + Missense_Mutation SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:46736347C>G ENST00000371975.4 + 10 1733 c.1059C>G c.(1057-1059)ttC>ttG p.F353L RAD54L_ENST00000442598.1_Missense_Mutation_p.F353L NM_003579.3 NP_003570.2 Q92698 RAD54_HUMAN RAD54-like (S. cerevisiae) 353 meiosis nucleus ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 25 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) CCCATGAATTCAAGAAGCATT 0.498000 Direct reversal of damage;Homologous recombination 10 149 0 0 0.335167 0 0 ATP1A3 478 broad.mit.edu 37 19 42471887 42471887 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr19:42471887C>T ENST00000545399.1 - 21 3040 c.2887G>A c.(2887-2889)Gag>Aag p.E963K ATP1A3_ENST00000602133.1_Missense_Mutation_p.E920K|ATP1A3_ENST00000543770.1_Missense_Mutation_p.E961K|ATP1A3_ENST00000302102.5_Missense_Mutation_p.E950K NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 950 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GCCGTCTCCTCAAACAGCCCG 0.667000 6 47 0 0 0.278610 0 0 TAF6 6878 broad.mit.edu 37 7 99707583 99707583 + Silent SNP C C T rs145206628 TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr7:99707583C>T ENST00000344095.4 - 12 1797 c.1272G>A c.(1270-1272)caG>caA p.Q424Q TAF6_ENST00000472509.1_Silent_p.Q481Q|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000418432.2_Silent_p.Q348Q|TAF6_ENST00000453269.2_Silent_p.Q424Q|TAF6_ENST00000452041.1_Silent_p.Q424Q|TAF6_ENST00000437822.2_Silent_p.Q461Q NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 424 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.Q424H(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCAGGAGGCTCTGCACATGGT 0.572000 19 166 0 0 0.592651 0 0 MSMO1 6307 broad.mit.edu 37 4 166254491 166254491 + Splice_Site SNP G G T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr4:166254491G>T ENST00000261507.6 + 2 142 c.e2-1 MSMO1_ENST00000504317.1_Splice_Site|MSMO1_ENST00000393766.2_Intron NM_006745.4 NP_006736.1 Q15800 ERG25_HUMAN methylsterol monooxygenase 1 cholesterol biosynthetic process|fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane C-4 methylsterol oxidase activity|iron ion binding NADH(DB00157) CATTTCTACAGAATTATAAGG 0.294000 6 104 3.59834e-05 3.83823e-05 0.217242 1 0 HK1 3098 broad.mit.edu 37 10 71142518 71142518 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr10:71142518C>T ENST00000448642.2 + 15 2035 c.1646C>T c.(1645-1647)tCc>tTc p.S549F HK1_ENST00000404387.2_Missense_Mutation_p.S518F|HK1_ENST00000360289.2_Missense_Mutation_p.S502F|HK1_ENST00000359426.6_Missense_Mutation_p.S514F|HK1_ENST00000298649.3_Missense_Mutation_p.S513F|HK1_ENST00000494253.1_3'UTR P19367 HXK1_HUMAN hexokinase 1 514 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 ATGCTGCCCTCCTTCGTCCGG 0.632000 3 28 0 0 0.115264 0 0 OR5J2 282775 broad.mit.edu 37 11 55944190 55944190 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr11:55944190G>A ENST00000312298.1 + 1 97 c.97G>A c.(97-99)Gtg>Atg p.V33M NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) GGTGTTCCTGGTGATTTACGC 0.403000 64 284 0 0 0.870114 0 0 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 3 98 0 0 0.115264 0 0 SHMT2 6472 broad.mit.edu 37 12 57626045 57626045 + Missense_Mutation SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr12:57626045C>G ENST00000328923.3 + 5 1016 c.564C>G c.(562-564)atC>atG p.I188M SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Missense_Mutation_p.I167M|SHMT2_ENST00000557487.1_Missense_Mutation_p.I188M|SHMT2_ENST00000414700.3_Missense_Mutation_p.I167M|SHMT2_ENST00000393827.4_Missense_Mutation_p.S83C|SHMT2_ENST00000553474.1_Missense_Mutation_p.I167M NM_001166356.1|NM_005412.5 NP_001159828.1|NP_005403.2 P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 (mitochondrial) 188 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CCACGTCCATCTTCTTCGAGT 0.592000 38 152 0 0 0.870114 0 0 FREM1 158326 broad.mit.edu 37 9 14824903 14824903 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr9:14824903C>T ENST00000380881.4 - 12 2787 c.1972G>A c.(1972-1974)Gag>Aag p.E658K FREM1_ENST00000380880.3_Missense_Mutation_p.E657K|FREM1_ENST00000422223.2_Missense_Mutation_p.E657K Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 657 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TAGGCCACCTCAGTTTCCTTG 0.408000 10 65 0 0 0.335167 0 0 BICC1 80114 broad.mit.edu 37 10 60558291 60558291 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr10:60558291C>T ENST00000373886.3 + 11 1503 c.1499C>T c.(1498-1500)cCc>cTc p.P500L BICC1_ENST00000263103.1_Missense_Mutation_p.P126L NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 500 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 TTATGGGCACCCCCACTTGCT 0.403000 14 183 0 0 0.500413 0 0 CREBBP 1387 broad.mit.edu 37 16 3820844 3820844 + Silent SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr16:3820844G>C ENST00000262367.5 - 14 3416 c.2607C>G c.(2605-2607)ctC>ctG p.L869L CREBBP_ENST00000382070.3_Silent_p.L831L NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 869 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TCGTGTGCTGGAGAGATGGCA 0.642000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 15 85 0 0 0.500413 0 0 SNHG14 104472715 broad.mit.edu 37 15 25514837 25514837 + RNA SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr15:25514837C>T ENST00000554726.1 + 0 4 SNHG14_ENST00000452731.1_RNA GAAAATGTGGCATCCAGTCCA 0.448000 3 8 0 0 0.115264 0 0 MAN2A2 4122 broad.mit.edu 37 15 91453879 91453879 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr15:91453879G>A ENST00000360468.3 + 10 1744 c.1726G>A c.(1726-1728)Gcc>Acc p.A576T MAN2A2_ENST00000559717.1_Missense_Mutation_p.A576T|MAN2A2_ENST00000431652.2_Missense_Mutation_p.A84T NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 576 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CACTGGCACGGCCAAGGAGGC 0.587000 4 131 0 0 0.184627 0 0 MDN1 23195 broad.mit.edu 37 6 90387317 90387317 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr6:90387317C>T ENST00000369393.3 - 76 12626 c.12511G>A c.(12511-12513)Gtc>Atc p.V4171I MDN1_ENST00000428876.1_Missense_Mutation_p.V4171I Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 4171 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GTGCTGCTGACGATGGACAAT 0.433000 19 113 0 0 0.557998 0 0 LAMB4 22798 broad.mit.edu 37 7 107710183 107710183 + Missense_Mutation SNP T T A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr7:107710183T>A ENST00000388781.3 - 18 2355 c.2272A>T c.(2272-2274)Atg>Ttg p.M758L LAMB4_ENST00000388780.3_Missense_Mutation_p.M758L|LAMB4_ENST00000205386.4_Missense_Mutation_p.M758L NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 758 Laminin IV type B. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TTGGCAGACATGCTGATGATC 0.478000 36 148 0 0 0.819951 0 0 WDHD1 11169 broad.mit.edu 37 14 55457985 55457985 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr14:55457985C>T ENST00000359167.4 - 1 115 c.26G>A c.(25-27)gGc>gAc p.G9D WDHD1_ENST00000421192.1_Silent_p.R306R|WDHD1_ENST00000360586.3_Silent_p.R429R|WDHD1_ENST00000420358.2_Silent_p.R306R O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 0 cytoplasm|nucleoplasm DNA binding breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2) 42 ATGGCTTTTGCCGGGGAGTTG 0.448000 4 108 0 0 0.184627 0 0 SMCHD1 23347 broad.mit.edu 37 18 2732357 2732357 + Missense_Mutation SNP A A T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr18:2732357A>T ENST00000320876.6 + 25 3481 c.3143A>T c.(3142-3144)aAg>aTg p.K1048M SMCHD1_ENST00000261598.8_Missense_Mutation_p.K1048M|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 1048 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 GAAGGACAAAAGGCAATTCAG 0.368000 18 121 0 0 0.520397 0 0 TP53 7157 broad.mit.edu 37 17 7579591 7579591 + Splice_Site SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr17:7579591C>T ENST00000420246.2 - 4 229 c.e4-1 TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCAAGGGGGACTGTAGATGGG 0.592000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 21 224 0 0 0.592651 0 0 GPR84 53831 broad.mit.edu 37 12 54757125 54757125 + Missense_Mutation SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr12:54757125C>G ENST00000551809.1 - 1 1146 c.511G>C c.(511-513)Gac>Cac p.D171H RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.D171H|RP11-753H16.5_ENST00000552785.1_RNA Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 171 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 CGGATGCGGTCAAAGCTGCAG 0.572000 3 80 0 0 0.115264 0 0 TSR1 55720 broad.mit.edu 37 17 2237843 2237843 + Missense_Mutation SNP T T C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr17:2237843T>C ENST00000301364.4 - 5 1983 c.904A>G c.(904-906)Ata>Gta p.I302V NM_018128.4 NP_060598.3 Q2NL82 TSR1_HUMAN TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 302 ribosome assembly nucleolus protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 20 GGGGCATCTATCTGTTTCATC 0.443000 84 290 0 0 0.870114 0 0 TP53 7157 broad.mit.edu 37 17 7578524 7578524 + Nonsense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr17:7578524G>A ENST00000420246.2 - 5 538 c.406C>T c.(406-408)Caa>Taa p.Q136* TP53_ENST00000269305.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q136* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 136 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTGGCCAGTTGGCAAAACATC 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 58 0 0 0.479597 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16812448 16812448 + Silent SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr11:16812448C>T ENST00000355661.3 - 21 2959 c.2949G>A c.(2947-2949)tcG>tcA p.S983S PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000531066.1_Silent_p.S983S|PLEKHA7_ENST00000448080.2_Silent_p.S984S|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 983 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 CACTGACATACGACCGCAGCT 0.642000 3 28 0 0 0.150653 0 0 KIAA1211 57482 broad.mit.edu 37 4 57190422 57190422 + Silent SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr4:57190422G>A ENST00000504228.1 + 8 3636 c.3531G>A c.(3529-3531)acG>acA p.T1177T KIAA1211_ENST00000541073.1_Silent_p.T1170T|KIAA1211_ENST00000264229.6_Silent_p.T1177T Q6ZU35 K1211_HUMAN KIAA1211 1177 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CTCTTCCTACGTCTGTGACAG 0.488000 24 63 0 0 0.667858 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 73 0 0 0.150653 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92838082 92838082 + Missense_Mutation SNP G G T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr7:92838082G>T ENST00000394468.2 - 4 900 c.823C>A c.(823-825)Cat>Aat p.H275N HEPACAM2_ENST00000341723.4_Missense_Mutation_p.H263N|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.H298N|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.H263N NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 275 Ig-like C2-type 2. integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 TTGGGGGGATGAGAATCAGCA 0.433000 18 412 1.99824e-07 2.17284e-07 0.520397 1 0 SEC23IP 11196 broad.mit.edu 37 10 121658241 121658241 + Missense_Mutation SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr10:121658241C>G ENST00000369075.3 + 2 538 c.466C>G c.(466-468)Ctg>Gtg p.L156V SEC23IP_ENST00000543134.1_Intron NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 156 Interaction with SEC23A.|Pro-rich. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) AAATTCTTATCTGCCTTCTCA 0.478000 21 208 0 0 0.575678 0 0 CECR2 27443 broad.mit.edu 37 22 18020172 18020172 + Missense_Mutation SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr22:18020172G>C ENST00000262608.8 + 13 1504 c.1504G>C c.(1504-1506)Gat>Cat p.D502H CECR2_ENST00000400573.4_Missense_Mutation_p.D501H|CECR2_ENST00000400585.2_Missense_Mutation_p.D360H NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 543 Bromo. chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) TCCTGGAGAAGATGGAGACAC 0.463000 7 14 0 0 0.248553 0 0 RGPD3 653489 broad.mit.edu 37 2 107042470 107042470 + Missense_Mutation SNP C C A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr2:107042470C>A ENST00000409886.3 - 19 2767 c.2680G>T c.(2680-2682)Gct>Tct p.A894S RGPD3_ENST00000304514.7_Missense_Mutation_p.A894S NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 894 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GTAACATTAGCTGCTGGTCTG 0.308000 5 163 0.014758 0.0151642 0.184627 1 0 DENND2D 79961 broad.mit.edu 37 1 111738609 111738609 + Nonsense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:111738609G>A ENST00000357640.4 - 6 803 c.574C>T c.(574-576)Cga>Tga p.R192* DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Nonsense_Mutation_p.R189* NM_024901.3 NP_079177.2 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 192 DENN. breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) GCTGCCTCTCGGAGGCCCTGC 0.567000 11 113 0 0 0.361761 0 0 COL14A1 7373 broad.mit.edu 37 8 121243789 121243789 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr8:121243789G>A ENST00000297848.3 + 19 2551 c.2281G>A c.(2281-2283)Gat>Aat p.D761N COL14A1_ENST00000247781.3_Missense_Mutation_p.D666N|COL14A1_ENST00000309791.4_Missense_Mutation_p.D761N|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 761 Fibronectin type-III 6. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TTCTGACAGCGATGTGCAGCA 0.453000 10 121 0 0 0.361761 0 0 TANGO2 128989 broad.mit.edu 37 22 20049075 20049075 + Silent SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr22:20049075G>A ENST00000327374.4 + 7 652 c.474G>A c.(472-474)gcG>gcA p.A158A TANGO2_ENST00000456048.1_Silent_p.A163A|TANGO2_ENST00000401886.1_Silent_p.A96A|TANGO2_ENST00000420290.2_Silent_p.A60A|TANGO2_ENST00000432883.1_Silent_p.A96A|TANGO2_ENST00000401833.1_Silent_p.A199A|TANGO2_ENST00000434570.2_Intron|TANGO2_ENST00000447208.2_Silent_p.A158A|TANGO2_ENST00000398042.2_Silent_p.A96A NM_152906.4 NP_690870.3 transport and golgi organization 2 homolog (Drosophila) TGAGCAACGCGCTGCTGGAGA 0.627000 3 17 0 0 0.115264 0 0 TP53I13 90313 broad.mit.edu 37 17 27896346 27896346 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr17:27896346G>A ENST00000301057.7 + 3 267 c.152G>A c.(151-153)aGa>aAa p.R51K RP11-68I3.2_ENST00000581474.1_RNA NM_138349.2 NP_612358.3 Q8NBR0 P5I13_HUMAN tumor protein p53 inducible protein 13 51 cytoplasm|integral to membrane|plasma membrane NS(1)|kidney(1)|lung(1)|urinary_tract(1) 4 READ - Rectum adenocarcinoma(3;0.236) GTGTCACCAAGAGTGACCTAC 0.632000 4 38 0 0 0.184627 0 0 VEPH1 79674 broad.mit.edu 37 3 157004456 157004456 + Missense_Mutation SNP T T A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr3:157004456T>A ENST00000362010.2 - 12 2325 c.2018A>T c.(2017-2019)gAc>gTc p.D673V VEPH1_ENST00000392833.2_Missense_Mutation_p.D628V|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000543418.1_Missense_Mutation_p.D628V|VEPH1_ENST00000392832.2_Missense_Mutation_p.D673V|RP11-550I24.2_ENST00000494885.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 673 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CTGTACCTGGTCCAGATCCTG 0.493000 10 125 0 0 0.361761 0 0 MACF1 23499 broad.mit.edu 37 1 39945527 39945527 + Missense_Mutation SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:39945527C>G ENST00000564288.1 + 98 22793 c.22016C>G c.(22015-22017)tCc>tGc p.S7339C MACF1_ENST00000372915.3_Missense_Mutation_p.S7209C|MACF1_ENST00000567887.1_Missense_Mutation_p.S7376C|MACF1_ENST00000317713.7_Missense_Mutation_p.S5251C|MACF1_ENST00000545844.1_Missense_Mutation_p.S5251C|MACF1_ENST00000289893.4_Missense_Mutation_p.S5759C|MACF1_ENST00000539005.1_Missense_Mutation_p.S5121C|MACF1_ENST00000361689.2_Missense_Mutation_p.S5251C Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 7209 C-terminal tail (By similarity).|Ser-rich. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAGGGAGCATCCCAGGGAATG 0.488000 4 93 0 0 0.150653 0 0 FLRT2 23768 broad.mit.edu 37 14 86089701 86089701 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr14:86089701G>A ENST00000330753.4 + 2 2610 c.1843G>A c.(1843-1845)Gat>Aat p.D615N FLRT2_ENST00000554746.1_Missense_Mutation_p.D615N NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 615 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CTTAAATAACGATCAACTCCT 0.473000 89 306 0 0 0.870114 0 0 SORBS2 8470 broad.mit.edu 37 4 186545169 186545169 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr4:186545169C>T ENST00000431808.1 - 14 1965 c.1402G>A c.(1402-1404)Gag>Aag p.E468K SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.E568K|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.E468K|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.E372K O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 468 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CAGATCACCTCGGAGTTCATC 0.587000 14 201 0 0 0.457914 0 0 S100PBP 64766 broad.mit.edu 37 1 33292423 33292423 + Silent SNP C C A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:33292423C>A ENST00000373475.5 + 3 977 c.723C>A c.(721-723)atC>atA p.I241I S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000398243.3_Silent_p.I241I|S100PBP_ENST00000373476.1_Silent_p.I241I NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 241 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TCTCTCGGATCTCAGACCATT 0.428000 16 74 2.23348e-06 2.41691e-06 0.500413 1 0 TMEM2 23670 broad.mit.edu 37 9 74365204 74365204 + Missense_Mutation SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr9:74365204G>A ENST00000377044.4 - 2 625 c.86C>T c.(85-87)cCa>cTa p.P29L TMEM2_ENST00000377066.5_Missense_Mutation_p.P29L NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 29 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) AACCTTCCCTGGAACATAGCC 0.517000 15 88 0 0 0.500413 0 0 MALAT1 378938 broad.mit.edu 37 11 65273274 65273274 + RNA SNP C C G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr11:65273274C>G ENST00000534336.1 + 0 8042 NR_002819.2 CTAAAACCAACTTAAACCAGT 0.373000 43 103 0 0 0.847076 0 0 DVL1 1855 broad.mit.edu 37 1 1277124 1277124 + Silent SNP G G A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:1277124G>A ENST00000378888.5 - 5 812 c.528C>T c.(526-528)gaC>gaT p.D176D DVL1_ENST00000378891.5_Silent_p.D176D O14640 DVL1_HUMAN dishevelled segment polarity protein 1 176 canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TGGACGCGCTGTCTGGGGGCA 0.677000 9 39 0 0 0.307466 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906692 13906692 + Missense_Mutation SNP A A G TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr12:13906692A>G ENST00000279593.3 - 3 778 c.569T>C c.(568-570)aTt>aCt p.I190T NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 190 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCTATTCTCAATGGTGCTGCG 0.463000 39 125 0 0 0.819951 0 0 BLM 641 broad.mit.edu 37 15 91347415 91347415 + Missense_Mutation SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr15:91347415G>C ENST00000355112.3 + 19 3695 c.3577G>C c.(3577-3579)Gaa>Caa p.E1193Q BLM_ENST00000560509.1_Intron|BLM_ENST00000560136.1_3'UTR NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 1193 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) TATGGAAACAGAAAATTCCAG 0.373000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 7 85 0 0 0.248553 0 0 PCDH18 54510 broad.mit.edu 37 4 138452188 138452188 + Missense_Mutation SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr4:138452188G>C ENST00000344876.4 - 1 1441 c.1055C>G c.(1054-1056)cCt>cGt p.P352R PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.P132R|PCDH18_ENST00000412923.2_Missense_Mutation_p.P352R NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 352 Cadherin 3. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GTTAATTTCAGGTTTATTGTC 0.358000 19 90 0 0 0.557998 0 0 SBF1 6305 broad.mit.edu 37 22 50898432 50898432 + Missense_Mutation SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr22:50898432G>C ENST00000380817.2 - 26 3623 c.3440C>G c.(3439-3441)tCt>tGt p.S1147C SBF1_ENST00000390679.3_Missense_Mutation_p.S1147C|SBF1_ENST00000348911.6_Missense_Mutation_p.S1148C NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1147 Myotubularin phosphatase. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GAAGGGCTCAGACTTGGCCCG 0.662000 15 105 0 0 0.479597 0 0 CTSG 1511 broad.mit.edu 37 14 25043576 25043576 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr14:25043576C>T ENST00000216336.2 - 4 505 c.469G>A c.(469-471)Gat>Aat p.D157N NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 157 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) CGGAGTGTATCTGTTCCCCTC 0.637000 20 139 0 0 0.624587 0 0 SSTR2 6752 broad.mit.edu 37 17 71166496 71166496 + Missense_Mutation SNP C C A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr17:71166496C>A ENST00000357585.2 + 2 1407 c.1038C>A c.(1036-1038)gaC>gaA p.D346E SSTR2_ENST00000315332.2_Intron|RP11-143K11.5_ENST00000580671.1_RNA NM_001050.2 NP_001041.1 P30874 SSR2_HUMAN somatostatin receptor 2 346 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) GTAAGCAGGACAAATCCCGGC 0.537000 37 99 6.84511e-11 7.66653e-11 0.779181 1 0 AGMO 392636 broad.mit.edu 37 7 15427042 15427042 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr7:15427042C>T ENST00000342526.3 - 9 1115 c.946G>A c.(946-948)Gaa>Aaa p.E316K NM_001004320.1 NP_001004320.1 Q6ZNB7 ALKMO_HUMAN alkylglycerol monooxygenase 316 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding p.E316*(1) breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 TCTGGAATTTCTTCACTGAGA 0.438000 17 256 0 0 0.575678 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332774 22332774 + RNA SNP C C A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr15:22332774C>A ENST00000558896.1 + 0 581 TGGCCTATGACAGGTATGTTG 0.488000 17 150 9.16793e-09 1.01163e-08 0.520397 1 0 PDE4B 5142 broad.mit.edu 37 1 66827468 66827468 + Missense_Mutation SNP C C A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:66827468C>A ENST00000423207.2 + 8 1452 c.967C>A c.(967-969)Ctg>Atg p.L323M PDE4B_ENST00000480109.2_Missense_Mutation_p.L105M|PDE4B_ENST00000329654.4_Missense_Mutation_p.L338M|PDE4B_ENST00000371045.5_Missense_Mutation_p.L166M|PDE4B_ENST00000371049.3_Missense_Mutation_p.L338M NM_001037340.1 NP_001032417.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 338 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) TGAAGATCACCTGGCCAAGGT 0.408000 4 72 0.00909568 0.00943256 0.150653 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3673302 3673302 + Missense_Mutation SNP C C T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr20:3673302C>T ENST00000344754.4 - 15 3895 c.3896G>A c.(3895-3897)cGt>cAt p.R1299H SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1299H NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1299 Ig-like C2-type 13. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CTGCAGCCAACGACCGTTGTG 0.657000 12 55 0 0 0.457914 0 0 HIST1H2AC 8334 broad.mit.edu 37 6 26124629 26124629 + Missense_Mutation SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr6:26124629G>C ENST00000602637.1 + 1 199 c.169G>C c.(169-171)Gag>Cag p.E57Q HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.E57Q Q93077 H2A1C_HUMAN histone cluster 1, H2ac 57 nucleosome assembly nucleosome|nucleus DNA binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5) 12 GGCGGTGTTAGAGTACCTGAC 0.662000 10 46 0 0 0.411799 0 0 AGRN 375790 broad.mit.edu 37 1 985677 985677 + Silent SNP G G C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:985677G>C ENST00000379370.2 + 28 4994 c.4944G>C c.(4942-4944)ctG>ctC p.L1648L NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1648 Laminin G-like 2. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) ACCTGGAGCTGAGAGGCCTGC 0.687000 18 147 0 0 0.520397 0 0 SEC22B 9554 broad.mit.edu 37 1 145109312 145109313 + RNA INS - - A rs148903206 TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr1:145109312_145109313insA ENST00000453618.1 + 0 512 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding aaaccaaaaacaaaAAAAAAAG 0.416 2 4 --- --- --- --- RNASEH1-AS1 100506054 broad.mit.edu 37 2 3608128 3608131 + RNA DEL TTCT TTCT - rs77904732 TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr2:3608128_3608131delTTCT ENST00000438436.1 + 0 789 AC108488.3_ENST00000426725.1_RNA NR_038429.1 ccttccttccttcttctttccttc 0.397 4 9 --- --- --- --- TFCP2L1 29842 broad.mit.edu 37 2 121989435 121989436 + Frame_Shift_Ins INS - - C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr2:121989435_121989436insC ENST00000263707.5 - 13 1404_1405 c.1307_1308insG c.(1306-1308)gccfs p.A436fs NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 436 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) TGCCCGTGGGGCCCTGCCGGTA 0.634 24 75 --- --- --- --- DOK7 285489 broad.mit.edu 37 4 3494670 3494671 + Frame_Shift_Ins INS - - A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr4:3494670_3494671insA ENST00000340083.5 + 7 1022_1023 c.957_958insA c.(955-960)ccagccfs p.A320fs DOK7_ENST00000389653.2_Frame_Shift_Ins_p.A320fs|DOK7_ENST00000507039.1_3'UTR|DOK7_ENST00000512714.1_3'UTR NM_173660.4 NP_775931.3 Q18PE1 DOK7_HUMAN docking protein 7 320 Ser-rich. positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GGCCACCCCCCAAGCCGCTGCG 0.688 5 5 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560450 147560451 + In_Frame_Ins INS - - TGG TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr4:147560450_147560451insTGG ENST00000281321.3 + 1 406_407 c.158_159insTGG c.(157-159)ggg>gTGGgg p.52_53insV AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 52 estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) TCGAGCAACGCTggtggtggcg 0.762 6 7 --- --- --- --- CTD-2023M8.1 0 broad.mit.edu 37 5 18730675 18730676 + RNA DEL AC AC - TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr5:18730675_18730676delAC ENST00000512978.1 - 0 176 AGAAAGATGTacacacacacac 0.426 3 3 --- --- --- --- AC006988.1 0 broad.mit.edu 37 7 88269891 88269891 + RNA DEL T T - TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr7:88269891delT ENST00000390184.1 + 0 57 GAAGGAGCACTTTTTTTTTTT 0.313 5 7 --- --- --- --- SRPK2 6733 broad.mit.edu 37 7 104782508 104782509 + Frame_Shift_Ins INS - - A rs56112661 TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr7:104782508_104782509insA ENST00000357311.3 - 10 1627_1628 c.1456_1457insT c.(1456-1458)ccafs p.P486fs SRPK2_ENST00000489828.1_Frame_Shift_Ins_p.P486fs|SRPK2_ENST00000393651.3_Frame_Shift_Ins_p.P497fs NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 486 Protein kinase. S -> F (in dbSNP:rs56112661). angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 TCTGTCATGGGATGGACTGCTC 0.520 29 131 --- --- --- --- RP11-1082L8.3 0 broad.mit.edu 37 8 125850042 125850043 + RNA INS - - T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr8:125850042_125850043insT ENST00000533496.1 - 0 293 tccttccttccttccttccttc 0.386 3 5 --- --- --- --- C9orf43 257169 broad.mit.edu 37 9 116187645 116187646 + In_Frame_Ins INS - - GCA TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr9:116187645_116187646insGCA ENST00000288462.4 + 10 1333_1334 c.887_888insGCA c.(886-888)cca>cGCAca p.296_296P>RT C9orf43_ENST00000374165.1_In_Frame_Ins_p.296_296P>RT NM_152786.1 NP_689999.1 Q8TAL5 CI043_HUMAN chromosome 9 open reading frame 43 296 Gln-rich. breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 cagcagcagcggcagcagcagc 0.550 9 85 --- --- --- --- MYOF 26509 broad.mit.edu 37 10 95134520 95134521 + Splice_Site INS - - T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr10:95134520_95134521insT ENST00000371501.4 - 23 2422_2423 c.2301_splice c.e23+1 p.A767_splice MYOF_ENST00000359263.4_Splice_Site_p.A767_splice|MYOF_ENST00000371502.4_Splice_Site_p.A767_splice|MYOF_ENST00000358334.5_Splice_Site_p.A754_splice Q9NZM1 MYOF_HUMAN myoferlin 767 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AAAGTCCTACCTCTTCAGTCAG 0.455 11 139 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651199 1651228 + In_Frame_Del DEL AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC AGGCTGTGGGGGCTGTGGCTCCGGCTGTGC - rs35089393 by1000genomes TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr11:1651199_1651228delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC ENST00000399676.2 + 1 167_196 c.129_158delAGGCTGTGGGGGCTGTGGCTCCGGCTGTGC c.(127-159)ggg>gg p.GGCGGCGSGCA43del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 43 G -> GGCGS (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ccggctgtggaggctgtgggggctgtggctccggctgtgcgggctgtggg 0.691 9 68 --- --- --- --- MYBPC3 4607 broad.mit.edu 37 11 47356642 47356644 + In_Frame_Del DEL AGG AGG - TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr11:47356642_47356644delAGG ENST00000545968.1 - 27 2908_2910 c.2854_2856delCCT c.(2854-2856)del p.P952del MYBPC3_ENST00000399249.2_In_Frame_Del_p.P952del|MYBPC3_ENST00000256993.4_In_Frame_Del_p.P951del NM_000256.3 NP_000247.2 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 951 Fibronectin type-III 2. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CAGGGGCTCCAGGCCCTGCCATA 0.640 14 29 --- --- --- --- SP1 6667 broad.mit.edu 37 12 53776257 53776258 + Frame_Shift_Del DEL AT AT - TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr12:53776257_53776258delAT ENST00000426431.2 + 3 565_566 c.505_506delAT c.(505-507)cfs p.I169fs SP1_ENST00000327443.4_Frame_Shift_Del_p.I176fs NM_003109.1 NP_003100.1 P08047 SP1_HUMAN Sp1 transcription factor 176 Transactivation domain A (Gln-rich). positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) GTATCAAGTAATCCCACAGTTC 0.515 20 228 --- --- --- --- SNORA70 26778 broad.mit.edu 37 12 76082936 76082937 + RNA INS - - T TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr12:76082936_76082937insT ENST00000552856.1 - 0 401 SNORA70_ENST00000516084.2_RNA TGTCTCCAAGGCCCTTTAGAGC 0.495 8 80 --- --- --- --- RP11-1082A3.1 0 broad.mit.edu 37 14 98965147 98965150 + RNA DEL AGGA AGGA - rs75300751 TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr14:98965147_98965150delAGGA ENST00000554515.1 + 0 107 AGATgaaaggaggaaggaaggaag 0.466 3 4 --- --- --- --- RP11-982M15.7 0 broad.mit.edu 37 14 105121584 105121585 + RNA INS - - GAT TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr14:105121584_105121585insGAT ENST00000553433.1 - 0 93 agggagggaagggaaggaagga 0.579 2 4 --- --- --- --- RP11-982M15.7 0 broad.mit.edu 37 14 105121600 105121601 + RNA INS - - GGAT rs71421878 TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr14:105121600_105121601insGGAT ENST00000553433.1 - 0 93 gaaggatggaaggaaggaagga 0.574 3 5 --- --- --- --- MSLNL 401827 broad.mit.edu 37 16 830765 830766 + In_Frame_Ins INS - - CAG TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr16:830765_830766insCAG ENST00000293892.3 - 3 234_235 c.235_236insCTG c.(235-237)cac>CTGcac p.78_79insL MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 CGGGTAGGTGACGGTGTGCACG 0.589 7 244 --- --- --- --- KAT2A 2648 broad.mit.edu 37 17 40272817 40272818 + Frame_Shift_Ins INS - - C TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr17:40272817_40272818insC ENST00000225916.5 - 2 422_423 c.369_370insG c.(367-372)tgaaaafs p.*123fs CTD-2132N18.3_ENST00000592574.1_Frame_Shift_Ins_p.*157fs NM_021078.2 NP_066564.2 Q92830 KAT2A_HUMAN K(lysine) acetyltransferase 2A 123 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity p.K124E(1) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 TTGGGGTTTTTCCAGCCATTAC 0.584 41 88 --- --- --- --- AKT2 208 broad.mit.edu 37 19 40741253 40741254 + Frame_Shift_Ins INS - - A TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chr19:40741253_40741254insA ENST00000392038.2 - 12 1477_1478 c.1179_1180insT c.(1177-1182)ctgtggfs p.W394fs AKT2_ENST00000311278.6_Frame_Shift_Ins_p.W351fs|AKT2_ENST00000579047.1_Frame_Shift_Ins_p.W332fs|AKT2_ENST00000424901.1_Frame_Shift_Ins_p.W394fs NM_001243027.1|NM_001243028.1|NM_001626.4 NP_001229956.1|NP_001229957.1|NP_001617.1 P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 394 Protein kinase. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) GGCCCCCCACCAAGCCTGTGCA 0.629 A """ovarian, pancreatic """ 8 107 --- --- --- --- GUCY2F 2986 broad.mit.edu 37 X 108619355 108619355 + Frame_Shift_Del DEL T T - TCGA-CN-4740-01A-01D-1434-08 TCGA-CN-4740-10A-01D-1434-08 Untested Somatic Phase_I WXS none Illumina GAIIx 40308868-8d79-484b-85a4-257142763d72 c3927691-3146-425b-90b5-efd060a18cb6 g.chrX:108619355delT ENST00000218006.2 - 18 3483 c.3192delA c.(3190-3192)aafs p.K1064fs NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 1064 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TCATGAAGCCTTTTTTCCCAA 0.418 7 537 --- --- --- ---