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 AADACL3 126767 broad.mit.edu 37 1 12785441 12785441 + Silent SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr1:12785441G>A ENST00000332530.3 + 3 547 c.321G>A c.(319-321)tcG>tcA p.S107S AADACL3_ENST00000359318.5_Silent_p.S177S NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 177 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) AAACCCCTTCGTTTCAACAGA 0.488000 47 154 0 0 1 0 0 POGLUT1 56983 broad.mit.edu 37 3 119187888 119187888 + Missense_Mutation SNP C C G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr3:119187888C>G ENST00000295588.4 + 1 104 c.20C>G c.(19-21)tCg>tGg p.S7W NM_152305.2 NP_689518.1 Q8NBL1 PGLT1_HUMAN protein O-glucosyltransferase 1 7 endoplasmic reticulum lumen UDP-glucosyltransferase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1) 16 TGGGCTAGCTCGCCGCTTCGG 0.711000 12 18 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144991031 144991031 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr8:144991031C>T ENST00000322810.4 - 32 13538 c.13369G>A c.(13369-13371)Ggc>Agc p.G4457S PLEC_ENST00000527096.1_Missense_Mutation_p.G4343S|PLEC_ENST00000357649.2_Missense_Mutation_p.G4324S|PLEC_ENST00000398774.2_Missense_Mutation_p.G4288S|PLEC_ENST00000354589.3_Missense_Mutation_p.G4320S|PLEC_ENST00000356346.3_Missense_Mutation_p.G4306S|PLEC_ENST00000436759.2_Missense_Mutation_p.G4347S|PLEC_ENST00000354958.2_Missense_Mutation_p.G4298S|PLEC_ENST00000345136.3_Missense_Mutation_p.G4320S NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4457 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 TCGATGATGCCCCCGGTGCAG 0.652000 4 113 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238287314 238287314 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr2:238287314C>T ENST00000295550.4 - 6 2914 c.2462G>A c.(2461-2463)aGt>aAt p.S821N COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.S414N|COL6A3_ENST00000392004.3_Missense_Mutation_p.S615N|COL6A3_ENST00000347401.3_Missense_Mutation_p.S620N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S615N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S615N|COL6A3_ENST00000472056.1_Intron NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 821 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CACACCTCCACTAACATATGT 0.537000 6 175 0 0 1 0 0 RNF112 7732 broad.mit.edu 37 17 19316068 19316068 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr17:19316068C>T ENST00000461366.1 + 3 568 c.353C>T c.(352-354)cCg>cTg p.P118L RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA NM_007148.4 NP_009079.2 Q7Z5V9 Q7Z5V9_HUMAN ring finger protein 112 118 GTP binding|GTPase activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 12 AAGCTCCTGCCGCAGCGGCCG 0.642000 4 67 0 0 1 0 0 C12orf74 338809 broad.mit.edu 37 12 93100524 93100524 + Silent SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr12:93100524G>A ENST00000544406.2 + 2 383 c.117G>A c.(115-117)cgG>cgA p.R39R C12orf74_ENST00000397833.3_Silent_p.R39R Q32Q52 CL074_HUMAN chromosome 12 open reading frame 74 39 kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 10 AGTTTGACCGGCAAGCCCCAG 0.627000 4 103 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293269 145293269 + Splice_Site SNP G G A rs61350760 by1000genomes TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr1:145293269G>A ENST00000369338.1 + 1 155 c.e1+1 NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Splice_Site A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTTCACAACAGTAAGTTAAGA 0.423000 5 87 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42147675 42147675 + Splice_Site SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr8:42147675C>T ENST00000520810.1 + 4 388 c.200_splice c.e4-1 p.L68_splice IKBKB_ENST00000416505.2_Splice_Site_p.L9_splice|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Splice_Site_p.L66_splice|IKBKB_ENST00000519735.1_Splice_Site_p.L68_splice|IKBKB_ENST00000379708.3_Intron NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 68 Protein kinase. anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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 CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) TCCTCCTAGGCTGACCCACCC 0.627000 19 18 0 0 1 0 0 CUL5 8065 broad.mit.edu 37 11 107948957 107948957 + Missense_Mutation SNP A A G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr11:107948957A>G ENST00000393094.2 + 11 1784 c.1168A>G c.(1168-1170)Aag>Gag p.K390E NM_003478.3 NP_003469.2 Q93034 CUL5_HUMAN cullin 5 390 cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) ATTACCTTTGAAGCAGAAGGG 0.264000 47 180 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 5 69 0 0 1 0 0 SLC16A6 9120 broad.mit.edu 37 17 66267106 66267106 + Missense_Mutation SNP T T C TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr17:66267106T>C ENST00000327268.4 - 6 1359 c.1195A>G c.(1195-1197)Ata>Gta p.I399V SLC16A6_ENST00000580666.1_Missense_Mutation_p.I399V|ARSG_ENST00000448504.2_Intron NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 399 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) GTCCCTCCTATTGTTCCAACC 0.443000 35 143 0 0 1 0 0 SUZ12P 0 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 4 60 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18260436 18260436 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr19:18260436C>T ENST00000262811.5 + 27 3830 c.3830C>T c.(3829-3831)cCg>cTg p.P1277L AC007192.6_ENST00000600364.1_RNA NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 1277 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 TTCGATGAGCCGCAGGAGGAG 0.667000 4 48 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43944870 43944870 + Missense_Mutation SNP A A G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr12:43944870A>G ENST00000389420.3 - 2 294 c.295T>C c.(295-297)Ttt>Ctt p.F99L ADAMTS20_ENST00000553158.1_Missense_Mutation_p.F99L NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 99 proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GCGGCCAGAAAGGATGCATCG 0.672000 7 42 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103282539 103282539 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr13:103282539G>A ENST00000376052.3 + 10 1254 c.1238G>A c.(1237-1239)gGa>gAa p.G413E TPP2_ENST00000376065.4_Missense_Mutation_p.G413E P29144 TPP2_HUMAN tripeptidyl peptidase II 413 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCTTCTAGAGGACCTAGGTAG 0.408000 12 41 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227663384 227663384 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr2:227663384C>T ENST00000305123.4 - 1 1091 c.71G>A c.(70-72)aGc>aAc p.S24N NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 24 Mediates interaction with PHIP (By similarity).|PH. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TTTGTGCATGCTCTTGGGTTT 0.657000 4 99 0 0 1 0 0 VN1R2 317701 broad.mit.edu 37 19 53762633 53762633 + Silent SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr19:53762633C>T ENST00000341702.3 + 1 1089 c.1005C>T c.(1003-1005)taC>taT p.Y335Y VN1R2_ENST00000598458.1_Intron NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 335 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) TCATCACCTACGTTTATTTAG 0.443000 19 97 0 0 1 0 0 SLFN12 55106 broad.mit.edu 37 17 33738466 33738466 + Missense_Mutation SNP G G T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr17:33738466G>T ENST00000394562.1 - 6 2151 c.1628C>A c.(1627-1629)tCt>tAt p.S543Y SLFN12_ENST00000304905.5_Missense_Mutation_p.S543Y|SLFN12_ENST00000452764.3_Missense_Mutation_p.S543Y|SLFN12_ENST00000460530.1_5'UTR Q8IYM2 SLN12_HUMAN schlafen family member 12 543 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTCTCTCAGAGACTTGAGTCT 0.343000 29 40 4.87955e-14 4.87955e-14 1 1 0 JAG1 182 broad.mit.edu 37 20 10620233 10620233 + Silent SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr20:10620233C>T ENST00000254958.5 - 26 4085 c.3570G>A c.(3568-3570)ccG>ccA p.P1190P JAG1_ENST00000423891.2_Silent_p.P1031P NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 1190 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 GGTGTTTTGTCGGCGTGCCGT 0.542000 Alagille Syndrome 17 325 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 26 46 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15876277 15876277 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr16:15876277C>T ENST00000338282.6 - 6 797 c.691G>A c.(691-693)Gcc>Acc p.A231T MYH11_ENST00000576790.1_Missense_Mutation_p.A231T|MYH11_ENST00000396324.3_Missense_Mutation_p.A238T|MYH11_ENST00000452625.2_Missense_Mutation_p.A238T|MYH11_ENST00000300036.5_Missense_Mutation_p.A231T NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 231 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 ACTGTTTTGGCGTTGCCGAAA 0.468000 T CBFB AML 4 99 0 0 1 0 0 GNAT3 346562 broad.mit.edu 37 7 80108203 80108203 + Missense_Mutation SNP A A G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr7:80108203A>G ENST00000398291.3 - 4 508 c.415T>C c.(415-417)Tgc>Cgc p.C139R CD36_ENST00000435819.1_Intron NM_001102386.1 NP_001095856.1 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha transducing 3 139 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 9 CTTTCAAAGCAGGCCTGAATT 0.413000 65 107 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46285864 46285864 + Missense_Mutation SNP A A T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr12:46285864A>T ENST00000334344.6 + 18 5304 c.5132A>T c.(5131-5133)cAg>cTg p.Q1711L ARID2_ENST00000444670.1_Missense_Mutation_p.Q1321L|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.Q319L|ARID2_ENST00000422737.1_Missense_Mutation_p.Q1562L NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1711 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GCAGGAAGTCAGAAGTCTTCT 0.383000 """N, S, F""" hepatocellular carcinoma 6 41 0 0 1 0 0 F9 2158 broad.mit.edu 37 X 138643994 138643994 + Nonsense_Mutation SNP C C T rs137852261 TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chrX:138643994C>T ENST00000218099.2 + 8 1157 c.1150C>T c.(1150-1152)Cga>Tga p.R384* F9_ENST00000394090.2_Nonsense_Mutation_p.R346* NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 384 Peptidase S1. R -> L (in THR-FIX; factor IX Padua; higher specific activity than wild-type). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity p.R384*(3) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) CACATGTCTTCGATCTACAAA 0.463000 5 75 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32932723 32932723 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr3:32932723G>A ENST00000383763.4 + 4 2090 c.2027G>A c.(2026-2028)cGc>cAc p.R676H NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 676 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GACAATCATCGCATCCAGATC 0.592000 8 88 0 0 1 0 0 PAK6 56924 broad.mit.edu 37 15 40564820 40564820 + Silent SNP C C T rs149826022 byFrequency TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr15:40564820C>T ENST00000455577.2 + 6 2166 c.1254C>T c.(1252-1254)acC>acT p.T418T PAK6_ENST00000441369.1_Silent_p.T418T|PAK6_ENST00000560346.1_Silent_p.T418T|PAK6_ENST00000542403.2_Silent_p.T418T|PAK6_ENST00000260404.4_Silent_p.T418T|PAK6_ENST00000453867.1_Silent_p.T418T|RP11-133K1.2_ENST00000558658.1_3'UTR NM_001276718.1 NP_001263647.1 Q9NQU5 PAK6_HUMAN p21 protein (Cdc42/Rac)-activated kinase 6 418 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2) 24 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) AGGGCTCCACCGGCATCGTCT 0.637000 41 51 0 0 1 0 0 EGR4 1961 broad.mit.edu 37 2 73519641 73519641 + Silent SNP A A G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr2:73519641A>G ENST00000436467.2 - 2 792 c.405T>C c.(403-405)gaT>gaC p.D135D EGR4_ENST00000545030.1_Silent_p.D238D B7ZKU3 B7ZKU3_HUMAN early growth response 4 134 intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GCAGCAAGGCATCGGACCCCG 0.682000 5 15 0 0 1 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456174 5456174 + Silent SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr19:5456174C>T ENST00000222033.4 + 1 749 c.672C>T c.(670-672)gtC>gtT p.V224V NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 224 PA. integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) ACCTGCGGGTCATCCTGGGCT 0.677000 11 132 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173526563 173526563 + Nonsense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr1:173526563C>T ENST00000367714.3 - 10 1553 c.1131G>A c.(1129-1131)tgG>tgA p.W377* SLC9C2_ENST00000536496.1_Nonsense_Mutation_p.W275*|RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 377 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TAATTCCAGACCACGTGATTA 0.383000 92 111 0 0 1 0 0 OR6Q1 219952 broad.mit.edu 37 11 57798864 57798864 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr11:57798864G>A ENST00000302622.3 + 1 463 c.440G>A c.(439-441)cGt>cAt p.R147H OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) ACCTGCATCCGTCTGGCAGCT 0.507000 5 126 0 0 1 0 0 SLC5A11 115584 broad.mit.edu 37 16 24883542 24883542 + Splice_Site SNP T T G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr16:24883542T>G ENST00000347898.3 + 5 994 c.e5+2 SLC5A11_ENST00000424767.2_Splice_Site|SLC5A11_ENST00000565769.1_Splice_Site|SLC5A11_ENST00000539472.1_Splice_Site|SLC5A11_ENST00000569071.1_Splice_Site|SLC5A11_ENST00000449109.2_Splice_Site|SLC5A11_ENST00000545376.1_Splice_Site|SLC5A11_ENST00000567758.1_Splice_Site|SLC5A11_ENST00000568579.1_Splice_Site NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) GCTGGTCAGGTGAGTCGGGGG 0.552000 13 295 0 0 1 0 0 SREBF1 6720 broad.mit.edu 37 17 17723758 17723758 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr17:17723758C>T ENST00000355815.4 - 3 428 c.259G>A c.(259-261)Ggg>Agg p.G87R SREBF1_ENST00000435530.2_Missense_Mutation_p.G57R|SREBF1_ENST00000261646.5_Missense_Mutation_p.G57R|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000338854.5_Missense_Mutation_p.G57R NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 57 Pro/Ser-rich. cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 TCTGTGCCCCCTGCCCCACTC 0.587000 11 70 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14842610 14842610 + Missense_Mutation SNP A A G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr9:14842610A>G ENST00000380881.4 - 10 2260 c.1445T>C c.(1444-1446)gTt>gCt p.V482A FREM1_ENST00000380880.3_Missense_Mutation_p.V481A|FREM1_ENST00000422223.2_Missense_Mutation_p.V481A Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 481 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) ATGATAGCGAACAACTCCAGC 0.532000 130 11 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15561315 15561315 + Missense_Mutation SNP C C T rs150922478 TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr10:15561315C>T ENST00000378076.3 - 29 3432 c.3079G>A c.(3079-3081)Gcc>Acc p.A1027T NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 1027 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GTTAAAATGGCGAGAACCAAC 0.373000 10 215 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39125630 39125630 + Splice_Site SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr7:39125630C>T ENST00000518318.2 + 2 231 c.190_splice c.e2+1 p.F63_splice POU6F2_ENST00000403058.1_Splice_Site_p.F63_splice|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Splice_Site_p.F55_splice|POU6F2_ENST00000464276.2_Splice_Site_p.F55_splice P78424 PO6F2_HUMAN POU class 6 homeobox 2 63 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.F63F(1) NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 GCAAGCTCTTCGGTAAGTCTG 0.507000 5 42 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643289 1643289 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr11:1643289G>A ENST00000399682.1 - 1 79 c.35C>T c.(34-36)tCc>tTc p.S12F NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 12 keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) cccacagccggagccacagcc 0.682000 28 251 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717461 13717461 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr12:13717461G>A ENST00000279593.3 - 13 2920 c.2711C>T c.(2710-2712)aCg>aTg p.T904M NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 904 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) GTTCTTGGCCGTGCGCAGCAG 0.582000 9 290 0 0 1 0 0 R3HDM1 23518 broad.mit.edu 37 2 136467655 136467655 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr2:136467655G>A ENST00000264160.4 + 22 2855 c.2485G>A c.(2485-2487)Ggg>Agg p.G829R R3HDM1_ENST00000329971.3_Missense_Mutation_p.G700R|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G830R|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G774R|R3HDM1_ENST00000409478.1_Missense_Mutation_p.G701R NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 829 nucleic acid binding p.G829R(1) breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) ACCTGGTGGGGGGATGGTGAT 0.453000 OREG0014997 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 58 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154056037 154056037 + Silent SNP A A G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr3:154056037A>G ENST00000389740.2 - 4 1746 c.1647T>C c.(1645-1647)atT>atC p.I549I NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 549 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CACACAAGGGAATGGCAAGGG 0.428000 46 163 0 0 1 0 0 SPG20 23111 broad.mit.edu 37 13 36888512 36888512 + Silent SNP A A G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr13:36888512A>G ENST00000451493.1 - 6 1552 c.1335T>C c.(1333-1335)acT>acC p.T445T SPG20_ENST00000355182.4_Silent_p.T445T|SPG20_ENST00000438666.2_Silent_p.T445T|SPG20_ENST00000494062.2_Silent_p.T445T NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 445 cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) TTGCCTTACCAGTAATCTCAG 0.408000 22 54 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr9:78790192C>G ENST00000376767.3 + 14 2559 c.2047C>G c.(2047-2049)Cga>Gga p.R683G PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ggaatggaatcgaatcgaatc 0.373000 3 12 0 0 1 0 0 ZNF215 7762 broad.mit.edu 37 11 6977625 6977625 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr11:6977625C>T ENST00000278319.5 + 7 2005 c.1417C>T c.(1417-1419)Cgg>Tgg p.R473W ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.R473W NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 473 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) ATCCTTCAACCGGAGCTCCTC 0.388000 7 115 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31571808 31571808 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr2:31571808G>A ENST00000379416.3 - 27 3056 c.3008C>T c.(3007-3009)cCc>cTc p.P1003L NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1003 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AAACTTGGTGGGAATTATGCA 0.383000 4 58 0 0 1 0 0 TAGAP 117289 broad.mit.edu 37 6 159456923 159456923 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr6:159456923C>T ENST00000367066.3 - 10 2463 c.2132G>A c.(2131-2133)cGa>cAa p.R711Q RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R533Q|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 711 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) GCTACATCGTCGCACGAGACA 0.567000 6 64 0 0 1 0 0 ST3GAL3 6487 broad.mit.edu 37 1 44364853 44364853 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr1:44364853C>T ENST00000262915.3 + 9 859 c.682C>T c.(682-684)Cgc>Tgc p.R228C ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R158C|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R159C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R197C|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R128C|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R158C|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R228C|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R213C|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R143C|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R174C|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.R159C|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R213C|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R197C|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R128C|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R159C NM_174963.3 NP_777623.2 Q11203 SIAT6_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 3 159 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane N-acetyllactosaminide alpha-2,3-sialyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) CCGCTGCCGCCGCTGCATCAT 0.597000 47 6 0 0 1 0 0 AFTPH 54812 broad.mit.edu 37 2 64796313 64796313 + Silent SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr2:64796313G>A ENST00000422803.1 + 4 2489 c.2175G>A c.(2173-2175)aaG>aaA p.K725K AFTPH_ENST00000409933.1_Silent_p.K725K|AFTPH_ENST00000487769.1_Intron|AFTPH_ENST00000238856.4_Silent_p.K725K|AFTPH_ENST00000409183.1_Silent_p.K356K|AFTPH_ENST00000238855.7_Silent_p.K725K Q6ULP2 AFTIN_HUMAN aftiphilin 725 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 ATAGCAACAAGAAGCTTTTGT 0.433000 10 106 0 0 1 0 0 IGSF6 10261 broad.mit.edu 37 16 21655635 21655635 + Silent SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr16:21655635G>A ENST00000268389.4 - 3 571 c.510C>T c.(508-510)tgC>tgT p.C170C METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron NM_005849.3 NP_005840.2 O95976 IGSF6_HUMAN immunoglobulin superfamily, member 6 170 cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(48;0.066) TGAAGGCCACGCACACACCGG 0.413000 8 171 0 0 1 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18636782 18636782 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr11:18636782G>A ENST00000336349.5 - 3 1274 c.1039C>T c.(1039-1041)Cat>Tat p.H347Y NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 347 Ser-rich. breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 TGGCTAGGATGGGACAGAGAT 0.542000 34 258 0 0 1 0 0 SOX4 6659 broad.mit.edu 37 6 21595117 21595117 + Missense_Mutation SNP A A G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr6:21595117A>G ENST00000244745.1 + 1 1146 c.352A>G c.(352-354)Aag>Gag p.K118E SOX4_ENST00000543472.1_Missense_Mutation_p.K118E NM_003107.2 NP_003098.1 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 118 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) GCTGCGCCTCAAGCACATGGC 0.622000 9 25 0 0 1 0 0 LRRC3 81543 broad.mit.edu 37 21 45876948 45876948 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr21:45876948C>T ENST00000291592.4 + 2 738 c.421C>T c.(421-423)Cgc>Tgc p.R141C NM_030891.3 NP_112153.1 Q9BY71 LRRC3_HUMAN leucine rich repeat containing 3 141 integral to membrane protein binding endometrium(2)|kidney(1)|lung(1)|urinary_tract(1) 5 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) CGCCAAGATACGCCTGTCCCA 0.672000 9 76 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2591146 2591146 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr20:2591146C>T ENST00000358864.1 + 12 1510 c.1495C>T c.(1495-1497)Cgc>Tgc p.R499C TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 499 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTACCACCCACGCACTGGACT 0.532000 12 148 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72398486 72398486 + Nonsense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr11:72398486G>A ENST00000359373.5 - 32 5001 c.4150C>T c.(4150-4152)Cag>Tag p.Q1384* ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.Q1150*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.Q1384*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.Q1139*|ARAP1_ENST00000393609.3_Nonsense_Mutation_p.Q1395*|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.Q1155*|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.Q1078* Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 1395 PH 4. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CCTGGTACCTGCACAAACAGA 0.577000 5 183 0 0 1 0 0 CCDC22 28952 broad.mit.edu 37 X 49093692 49093692 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chrX:49093692C>T ENST00000376227.3 + 2 360 c.190C>T c.(190-192)Cgg>Tgg p.R64W CCDC22_ENST00000496651.1_3'UTR NM_014008.3 NP_054727.1 O60826 CCD22_HUMAN coiled-coil domain containing 22 64 NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 18 CATGTCTGCCCGGTTCCGCCT 0.592000 24 33 0 0 1 0 0 AQP3 360 broad.mit.edu 37 9 33442900 33442900 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr9:33442900C>T ENST00000297991.4 - 4 522 c.442G>A c.(442-444)Gct>Act p.A148T AQP3_ENST00000493581.1_5'UTR NM_004925.4 NP_004916.1 Q92482 AQP3_HUMAN aquaporin 3 (Gill blood group) 148 excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D basolateral plasma membrane|cell-cell junction|cytoplasm glycerol channel activity|water channel activity endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.0899) GGGTAGGTAGCAAAGATGCCG 0.562000 6 209 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625905 29625905 + Missense_Mutation SNP T T C rs137871677 by1000genomes TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr20:29625905T>C ENST00000278882.3 + 5 529 c.149T>C c.(148-150)cTt>cCt p.L50P FRG1B_ENST00000439954.2_Missense_Mutation_p.L55P|FRG1B_ENST00000358464.4_Missense_Mutation_p.L50P p.L50P(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGAAAATATCTTGGTATAAAT 0.333000 4 107 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1905410 1905410 + Splice_Site SNP A A G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr20:1905410A>G ENST00000358771.4 + 5 1240 c.1087_splice c.e5-1 p.E363_splice SIRPA_ENST00000400068.3_Splice_Site_p.E363_splice|SIRPA_ENST00000356025.3_Splice_Site_p.E363_splice NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 363 blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) TGGTCCCTAGAGAACACTGGA 0.488000 4 57 0 0 1 0 0 ARHGEF3 50650 broad.mit.edu 37 3 56771305 56771305 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr3:56771305G>A ENST00000413728.2 - 8 1510 c.967C>T c.(967-969)Ctt>Ttt p.L323F ARHGEF3_ENST00000296315.3_Missense_Mutation_p.L317F|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.L349F|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.L288F|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.L317F|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.L323F NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 317 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) AAGTAAAGAAGCCGCTCTTTA 0.428000 14 71 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345723 33345723 + Silent SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr20:33345723C>T ENST00000374796.2 - 8 3398 c.828G>A c.(826-828)caG>caA p.Q276Q NCOA6_ENST00000359003.2_Silent_p.Q276Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 276 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgttgttgctgctgctgct 0.537000 4 70 0 0 1 0 0 CBL 867 broad.mit.edu 37 11 119103190 119103190 + Silent SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr11:119103190G>A ENST00000264033.4 + 2 604 c.228G>A c.(226-228)gcG>gcA p.A76A NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 76 4H.|Cbl-PTB. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CAAAGCTGGCGCTAAAGAATA 0.433000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 11 87 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 5 68 0 0 1 0 0 KDM4E 390245 broad.mit.edu 37 11 94759275 94759275 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr11:94759275C>T ENST00000450979.2 + 1 854 c.554C>T c.(553-555)aCg>aTg p.T185M NM_001161630.1 NP_001155102.1 B2RXH2 KD4DL_HUMAN lysine (K)-specific demethylase 4E 185 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(7)|kidney(1)|lung(3) 12 TGGAAGACCACGTTTGCCTGG 0.537000 4 146 0 0 1 0 0 FAM86FP 0 broad.mit.edu 37 12 8386973 8386973 + RNA SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr12:8386973C>T ENST00000427893.2 - 0 793 AGCCAGCCTCCGCAGGACCCC 0.592000 5 165 0 0 1 0 0 UBE3C 9690 broad.mit.edu 37 7 157000121 157000121 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr7:157000121C>T ENST00000348165.5 + 12 1808 c.1448C>T c.(1447-1449)tCc>tTc p.S483F NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 483 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) CAGGTGATATCCAGGGGTTCT 0.338000 32 49 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1427358 1427358 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr3:1427358G>A ENST00000446702.2 + 20 3208 c.2581G>A c.(2581-2583)Gtc>Atc p.V861I CNTN6_ENST00000350110.2_Missense_Mutation_p.V861I|CNTN6_ENST00000539053.1_Missense_Mutation_p.V789I Q9UQ52 CNTN6_HUMAN contactin 6 861 Fibronectin type-III 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CAGTGGAAATGTCACAACCAA 0.418000 21 171 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6924761 6924761 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr19:6924761G>A ENST00000312053.4 + 15 1901 c.1864G>A c.(1864-1866)Gcc>Acc p.A622T EMR1_ENST00000450315.3_Missense_Mutation_p.A445T|EMR1_ENST00000381404.4_Missense_Mutation_p.A570T|EMR1_ENST00000381407.5_Missense_Mutation_p.A481T|EMR1_ENST00000250572.8_Intron NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 622 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CTTGGCCATCGCCACCTTTCT 0.527000 4 96 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 48 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42799051 42799051 + Missense_Mutation SNP G G T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr19:42799051G>T ENST00000572681.2 + 21 7321 c.7253G>T c.(7252-7254)cGt>cTt p.R2418L CIC_ENST00000160740.3_Missense_Mutation_p.R1510L|CIC_ENST00000575354.2_Missense_Mutation_p.R1512L Q96RK0 CIC_HUMAN capicua transcriptional repressor 1512 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) TTGAAGATCCGTGAGGTGCGC 0.627000 """Mis, F, S""" oligodendroglioma 62 6 5.82089e-37 5.87581e-37 1 1 0 DNAH8 1769 broad.mit.edu 37 6 38773314 38773314 + Missense_Mutation SNP A A G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr6:38773314A>G ENST00000359357.3 + 21 2695 c.2441A>G c.(2440-2442)tAt>tGt p.Y814C DNAH8_ENST00000449981.2_Missense_Mutation_p.Y1031C|DNAH8_ENST00000441566.1_Missense_Mutation_p.Y814C dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AACAATGACTATGAAGCTAAT 0.303000 4 75 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92083964 92083964 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr14:92083964C>T ENST00000256343.3 - 20 2533 c.2377G>A c.(2377-2379)Gca>Aca p.A793T NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 793 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TTGCTAGCTGCAGAAATTGTT 0.299000 3 36 0 0 1 0 0 TYSND1 219743 broad.mit.edu 37 10 71899723 71899723 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr10:71899723C>T ENST00000287078.6 - 4 1657 c.1658G>A c.(1657-1659)cGg>cAg p.R553Q TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_3'UTR NM_173555.2 NP_775826.2 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 553 proteolysis peroxisome serine-type endopeptidase activity endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1) 9 CCGCTGCAACCGCCACACCAC 0.627000 6 92 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293478 145293478 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr1:145293478C>T ENST00000342960.5 + 1 108 c.73C>T c.(73-75)Cgc>Tgc p.R25C NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Missense_Mutation_p.R25C|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 25 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CGAGACATTGCGCCCCCAGCT 0.502000 6 946 0 0 1 0 0 AADACL2 344752 broad.mit.edu 37 3 151475327 151475327 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr3:151475327G>A ENST00000356517.3 + 5 1260 c.1151G>A c.(1150-1152)cGt>cAt p.R384H RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_207365.3 NP_997248.2 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 384 extracellular region|integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2) 24 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) TTTTATTTACGTCTAGGTCTT 0.333000 41 46 0 0 1 0 0 POU4F3 5459 broad.mit.edu 37 5 145719841 145719841 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr5:145719841C>T ENST00000230732.4 + 2 940 c.851C>T c.(850-852)cCg>cTg p.P284L CTC-359M8.1_ENST00000515598.1_RNA NM_002700.2 NP_002691.1 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 284 sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATCGCGGCGCCGGAGAAGCGT 0.582000 11 80 0 0 1 0 0 OR52K1 390036 broad.mit.edu 37 11 4510367 4510367 + Silent SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr11:4510367G>A ENST00000307632.3 + 1 259 c.237G>A c.(235-237)acG>acA p.T79T NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) CTTCTACAACGCTGCCCAAAA 0.483000 5 81 0 0 1 0 0 CDKN1A 1026 broad.mit.edu 37 6 36653546 36653546 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr6:36653546G>A ENST00000405375.1 + 3 699 c.464G>A c.(463-465)cGc>cAc p.R155H CDKN1A_ENST00000373711.2_Missense_Mutation_p.R155H|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R155H|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R189H NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 155 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 CACTCCAAACGCCGGCTGATC 0.597000 43 317 0 0 1 0 0 SPATA13 221178 broad.mit.edu 37 13 24823639 24823639 + Nonsense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr13:24823639C>T ENST00000424834.2 + 5 2151 c.1678C>T c.(1678-1680)Cga>Tga p.R560* SPATA13_ENST00000382108.3_Nonsense_Mutation_p.R560*|SPATA13_ENST00000382095.4_5'UTR Q96N96 SPT13_HUMAN spermatogenesis associated 13 218 PH. cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction cytoplasm|filopodium|lamellipodium|ruffle membrane protein binding|Rac guanyl-nucleotide exchange factor activity breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2) 23 all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279) all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231) CCCCTGGAGGCGAAGCTCATC 0.537000 8 1 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70993483 70993483 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr6:70993483C>T ENST00000357250.6 - 6 895 c.737G>A c.(736-738)cGg>cAg p.R246Q COL9A1_ENST00000370496.3_Missense_Mutation_p.R246Q NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 246 Nonhelical region (NC4). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding p.R246Q(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 TCTCCTGGGCCGCAGGGGGTC 0.517000 4 16 0 0 1 0 0 HADHA 3030 broad.mit.edu 37 2 26435460 26435460 + Silent SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr2:26435460G>A ENST00000380649.3 - 10 1083 c.954C>T c.(952-954)gcC>gcT p.A318A HADHA_ENST00000457468.2_Silent_p.A231A NM_000182.4 NP_000173.2 P40939 ECHA_HUMAN hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit 318 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) AGAGATAACCGGCATCACTCC 0.358000 6 121 0 0 1 0 0 PHF8 23133 broad.mit.edu 37 X 53966856 53966856 + Missense_Mutation SNP G G C TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chrX:53966856G>C ENST00000338154.6 - 21 3247 c.2743C>G c.(2743-2745)Ctg>Gtg p.L915V PHF8_ENST00000338946.6_Missense_Mutation_p.L814V|PHF8_ENST00000357988.5_Missense_Mutation_p.L951V NM_015107.2 NP_055922.1 Q9UPP1 PHF8_HUMAN PHD finger protein 8 951 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 40 GGTACTGTCAGACTGAGATTG 0.532000 3 21 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75893744 75893744 + Missense_Mutation SNP T T C TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr6:75893744T>C ENST00000322507.8 - 9 1423 c.1114A>G c.(1114-1116)Act>Gct p.T372A COL12A1_ENST00000483888.2_Missense_Mutation_p.T372A|COL12A1_ENST00000416123.2_Missense_Mutation_p.T372A|COL12A1_ENST00000345356.6_Intron NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 372 Fibronectin type-III 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CTTCCTGCAGTCATTGGTGTG 0.478000 11 139 0 0 1 0 0 LHFPL1 340596 broad.mit.edu 37 X 111914413 111914413 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chrX:111914413C>T ENST00000371968.3 - 2 445 c.206G>A c.(205-207)cGc>cAc p.R69H LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69H NM_178175.3 NP_835469.1 Q86WI0 LHPL1_HUMAN lipoma HMGIC fusion partner-like 1 69 integral to membrane p.R69H(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6) 13 GCTGGCATAGCGCCCACATTC 0.592000 5 93 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34528987 34528987 + Silent SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr15:34528987G>A ENST00000354181.3 - 23 3456 c.2964C>T c.(2962-2964)taC>taT p.Y988Y SLC12A6_ENST00000451844.2_Silent_p.Y800Y|SLC12A6_ENST00000458406.2_Silent_p.Y929Y|SLC12A6_ENST00000397702.2_Silent_p.Y929Y|SLC12A6_ENST00000290209.5_Silent_p.Y937Y|SLC12A6_ENST00000558589.1_Silent_p.Y979Y|SLC12A6_ENST00000560611.1_Silent_p.Y988Y|SLC12A6_ENST00000397707.2_Silent_p.Y973Y|SLC12A6_ENST00000560164.1_Silent_p.Y800Y|SLC12A6_ENST00000558667.1_Silent_p.Y988Y Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 988 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) AAGTGCGCTCGTAAGTATATG 0.433000 48 63 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136320669 136320669 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr9:136320669C>T ENST00000371929.3 + 25 3956 c.3512C>T c.(3511-3513)cCg>cTg p.P1171L ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Intron NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1171 cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CTCTTCTCCCCGGCTCCCCAG 0.687000 17 127 0 0 1 0 0 TDP1 55775 broad.mit.edu 37 14 90509460 90509460 + Missense_Mutation SNP G G A rs75808917 byFrequency TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr14:90509460G>A ENST00000555880.1 + 14 1701 c.1691G>A c.(1690-1692)cGc>cAc p.R564H TDP1_ENST00000393454.2_Silent_p.T600T|TDP1_ENST00000335725.4_Silent_p.T600T|TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000357382.3_Silent_p.T361T Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 0 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) CACCGGATACGCATGGGAACA 0.418000 Repair of DNA-protein crosslinks 5 75 0 0 1 0 0 PLCXD1 55344 broad.mit.edu 37 X 205505 205505 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chrX:205505G>A ENST00000381657.2 + 3 747 c.233G>A c.(232-234)cGc>cAc p.R78H PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000399012.1_Missense_Mutation_p.R78H|PLCXD1_ENST00000381663.3_Missense_Mutation_p.R78H NM_018390.3 NP_060860.1 Q9NUJ7 PLCX1_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 1 78 PI-PLC X-box. intracellular signal transduction|lipid metabolic process phospholipase C activity endometrium(3)|large_intestine(1)|lung(7) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGCATCACGCGCCCTGTCGTG 0.637000 5 97 0 0 1 0 0 YEATS2 55689 broad.mit.edu 37 3 183495362 183495362 + Silent SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr3:183495362G>A ENST00000305135.5 + 19 2805 c.2610G>A c.(2608-2610)caG>caA p.Q870Q NM_018023.4 NP_060493.3 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 870 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3) 49 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CATCACCCCAGACTTCTGGAA 0.433000 8 57 0 0 1 0 0 YPEL3 83719 broad.mit.edu 37 16 30106634 30106634 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr16:30106634C>T ENST00000562641.1 - 1 699 c.170G>A c.(169-171)cGg>cAg p.R57Q YPEL3_ENST00000565479.1_5'UTR|YPEL3_ENST00000398838.4_Missense_Mutation_p.R19Q|YPEL3_ENST00000398841.1_Missense_Mutation_p.R57Q|YPEL3_ENST00000563788.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000566595.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000566134.1_Missense_Mutation_p.R19Q P61236 YPEL3_HUMAN yippee-like 3 (Drosophila) 19 nucleolus endometrium(1)|lung(2) 3 GCTATACCTCCGGTGACAATC 0.642000 72 96 0 0 1 0 0 TECRL 253017 broad.mit.edu 37 4 65274899 65274899 + Silent SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr4:65274899C>T ENST00000381210.3 - 1 281 c.171G>A c.(169-171)acG>acA p.T57T TECRL_ENST00000507440.1_Silent_p.T57T NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 57 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 CAAAGTGAGTCGTTTTTGAAT 0.328000 20 19 0 0 1 0 0 MAN1B1 11253 broad.mit.edu 37 9 140003035 140003035 + Missense_Mutation SNP C C T TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr9:140003035C>T ENST00000371589.4 + 13 2165 c.2092C>T c.(2092-2094)Cct>Tct p.P698S MAN1B1_ENST00000474902.1_Missense_Mutation_p.P401S|MAN1B1_ENST00000540391.1_3'UTR NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 698 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) TATCTGGACCCCTGCCTAGGG 0.597000 6 207 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525560 176525560 + Silent SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr1:176525560G>A ENST00000367662.3 + 2 1266 c.102G>A c.(100-102)ttG>ttA p.L34L PAPPA2_ENST00000367661.3_Silent_p.L34L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 34 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 AGAAATCCTTGGTTGAGAGGG 0.527000 41 111 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74347288 74347288 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr3:74347288G>A ENST00000263665.6 - 17 2248 c.2221C>T c.(2221-2223)Cgc>Tgc p.R741C NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 741 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CCAAGAGGGCGGAAAGCAACA 0.463000 14 86 0 0 1 0 0 CALCOCO2 10241 broad.mit.edu 37 17 46925765 46925765 + Missense_Mutation SNP C C G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr17:46925765C>G ENST00000258947.3 + 4 466 c.365C>G c.(364-366)cCt>cGt p.P122R CALCOCO2_ENST00000416445.2_Missense_Mutation_p.P122R|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.P146R|CALCOCO2_ENST00000509507.1_Missense_Mutation_p.P143R|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.P50R NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4 NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1 Q13137 CACO2_HUMAN calcium binding and coiled-coil domain 2 122 response to interferon-gamma|viral reproduction cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction protein homodimerization activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 15 GCAAGTATTCCTTTCCAATTC 0.448000 7 133 0 0 1 0 0 KCTD7 154881 broad.mit.edu 37 7 66104145 66104145 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr7:66104145G>A ENST00000275532.3 + 4 980 c.796G>A c.(796-798)Gtg>Atg p.V266M KCTD7_ENST00000443322.1_Missense_Mutation_p.V266M NM_001167961.2|NM_153033.4 NP_001161433.1|NP_694578.1 Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 266 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 GTGCATCGGGGTGTGTGACAA 0.597000 4 56 0 0 1 0 0 E4F1 1877 broad.mit.edu 37 16 2278405 2278405 + Missense_Mutation SNP C C G TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr16:2278405C>G ENST00000301727.4 + 2 238 c.190C>G c.(190-192)Cag>Gag p.Q64E E4F1_ENST00000564139.1_Missense_Mutation_p.Q64E|E4F1_ENST00000565090.1_Missense_Mutation_p.Q64E NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 64 Required for ubiquitin ligase activity. cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CGGCCGCTGCCAGGCAGAGTT 0.662000 27 30 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43318571 43318571 + Missense_Mutation SNP G G A TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr10:43318571G>A ENST00000374518.4 + 20 3201 c.3138G>A c.(3136-3138)atG>atA p.M1046I NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1046 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity p.M1046I(1) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGTAGGGAATGTTTAATTCTG 0.393000 4 198 0 0 1 0 0 AMZ2P1 0 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A A G rs138671696 by1000genomes TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr17:62968690A>G ENST00000430983.1 - 0 1554 NR_026903.1 AAAATTCCACAAGTCTCTTGG 0.373000 9 151 0 0 1 0 0 PLCXD2 257068 broad.mit.edu 37 3 111427010 111427010 + Frame_Shift_Del DEL T T - TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr3:111427010delT ENST00000393934.3 + 2 971 c.401delT c.(400-402)ctfs p.L134fs PLCXD2_ENST00000477665.1_Frame_Shift_Del_p.L134fs NM_153268.3 NP_695000.1 Q0VAA5 PLCX2_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 2 134 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 ATCCATGGGCTTTTTGGCATC 0.502 7 219 --- --- --- --- PRR23A 729627 broad.mit.edu 37 3 138724681 138724681 + Frame_Shift_Del DEL C C - TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr3:138724681delC ENST00000383163.2 - 1 429 c.430delG c.(430-432)cafs p.A144fs MRPS22_ENST00000495075.1_5'UTR NM_001134659.1 NP_001128131.1 A6NEV1 PR23A_HUMAN proline rich 23A 144 endometrium(3)|kidney(1)|lung(7) 11 GGGACAGATGCGCAGAAGACT 0.652 24 31 --- --- --- --- SOX4 6659 broad.mit.edu 37 6 21594934 21594934 + Frame_Shift_Del DEL G G - TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr6:21594934delG ENST00000244745.1 + 1 963 c.169delG c.(169-171)ggfs p.G57fs SOX4_ENST00000543472.1_Frame_Shift_Del_p.G57fs NM_003107.2 NP_003098.1 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 57 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 6 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) GACCCCGAGTGGGCACATCAA 0.677 13 12 --- --- --- --- RUFY2 55680 broad.mit.edu 37 10 70156583 70156583 + Frame_Shift_Del DEL T T - TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr10:70156583delT ENST00000388768.2 - 4 783 c.457delA c.(457-459)tgfs p.M153fs RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 167 RUN. nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 TAATCGGCCATTTTTTTTTGC 0.398 8 86 --- --- --- --- GBF1 8729 broad.mit.edu 37 10 104122359 104122361 + In_Frame_Del DEL AGA AGA - TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr10:104122359_104122361delAGA ENST00000369983.3 + 15 2071_2073 c.1811_1813delAGA c.(1810-1815)gag>g p.EK604del NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 604 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) ACCCAGCAAGAGAAGAAGGAGAC 0.483 9 125 --- --- --- --- DNM1L 10059 broad.mit.edu 37 12 32861134 32861135 + Frame_Shift_Del DEL AG AG - TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr12:32861134_32861135delAG ENST00000452533.2 + 4 509_510 c.345_346delAG c.(343-348)acaafs p.TE115fs DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000549701.1_Frame_Shift_Del_p.TE115fs|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.TE128fs|DNM1L_ENST00000547312.1_Frame_Shift_Del_p.TE115fs|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.TE128fs|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.TE115fs|DNM1L_ENST00000358214.5_Frame_Shift_Del_p.TE128fs NM_012062.3|NM_012063.2 NP_036192.2|NP_036193.2 O00429 DNM1L_HUMAN dynamin 1-like 115 GTPase domain. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 23 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) AAAATGAAACAGAAAGAATTTC 0.262 21 22 --- --- --- --- RP11-159L20.2 0 broad.mit.edu 37 14 31260614 31260614 + RNA DEL G G - TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr14:31260614delG ENST00000554665.1 - 0 208 CCCAGTCTGTGGGCTGCAATG 0.443 2 4 --- --- --- --- KTN1-AS1 0 broad.mit.edu 37 14 56014174 56014174 + RNA DEL G G - rs72015246 TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr14:56014174delG ENST00000554558.1 - 0 364 aaaaaaaaaagaaTTGGCACA 0.443 4 9 --- --- --- --- COL18A1 80781 broad.mit.edu 37 21 46925298 46925306 + In_Frame_Del DEL CCCCCTGGG CCCCCTGGG - TCGA-FG-A6IZ-01A-11D-A31L-08 TCGA-FG-A6IZ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 310777ef-0dea-4092-90a9-bc8610020383 a0d9c0c2-add8-47bf-8f42-9919f18f64c2 g.chr21:46925298_46925306delCCCCCTGGG ENST00000359759.4 + 35 4306_4314 c.4285_4293delCCCCCTGGG c.(4285-4293)del p.PPG1435del COL18A1_ENST00000355480.5_In_Frame_Del_p.PPG1200del|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_In_Frame_Del_p.PPG1020del P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 1435 Triple-helical region 10 (COL10). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CCCTCCGGGCccccctgggccccctgggc 0.713 12 45 --- --- --- ---