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 FRY 10129 broad.mit.edu 37 13 32841383 32841383 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr13:32841383G>A ENST00000380250.3 + 55 8519 c.8023G>A c.(8023-8025)Gca>Aca p.A2675T FRY_ENST00000542859.1_Missense_Mutation_p.A45T NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2675 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CTTTCAGCCCGCAGCCTGTGA 0.547000 7 865 0 0 1 0 0 LRRC42 115353 broad.mit.edu 37 1 54426130 54426130 + Missense_Mutation SNP C C A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr1:54426130C>A ENST00000371370.3 + 5 1228 c.707C>A c.(706-708)aCa>aAa p.T236K LRRC42_ENST00000319223.4_Missense_Mutation_p.T236K NM_001256409.1 NP_001243338.1 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 236 breast(2)|kidney(1)|large_intestine(1)|lung(5) 9 GAGAATCTAACATTATTAGAC 0.373000 76 130 1.7488e-33 1.9789e-33 1 1 0 FAM83G 644815 broad.mit.edu 37 17 18882872 18882872 + Missense_Mutation SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr17:18882872C>T ENST00000388995.6 - 4 1028 c.805G>A c.(805-807)Ggc>Agc p.G269S SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.G269S|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.G269S|SLC5A10_ENST00000395642.1_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 269 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 CTGTAGGAGCCGCACACAGCC 0.577000 4 240 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124298029 124298029 + Missense_Mutation SNP C C T rs138397621 byFrequency TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr12:124298029C>T ENST00000409039.3 + 19 3134 c.3109C>T c.(3109-3111)Cgc>Tgc p.R1037C NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1037 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.R1037C(1)|p.R855C(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGAGGTTATGCGCCACCCTCT 0.443000 5 474 0 0 1 0 0 EPC1 80314 broad.mit.edu 37 10 32561075 32561075 + Missense_Mutation SNP C C G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr10:32561075C>G ENST00000319778.6 - 12 2186 c.1884G>C c.(1882-1884)ttG>ttC p.L628F EPC1_ENST00000263062.8_Missense_Mutation_p.L651F|EPC1_ENST00000375110.2_Missense_Mutation_p.L578F NM_001272004.1|NM_001272019.1 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 651 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) TAGCAGAATCCAAAGTCTTAG 0.368000 114 19 0 0 1 0 0 KCNJ12 3768 broad.mit.edu 37 17 21319592 21319592 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr17:21319592G>A ENST00000583088.1 + 3 1833 c.938G>A c.(937-939)cGc>cAc p.R313H KCNJ12_ENST00000331718.5_Missense_Mutation_p.R313H NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) ACCCAGGCCCGCAGCTCCTAC 0.592000 Prostate(3;0.18) 5 627 0 0 1 0 0 ASS1 445 broad.mit.edu 37 9 133364801 133364801 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr9:133364801G>A ENST00000372394.1 + 13 1401 c.920G>A c.(919-921)cGc>cAc p.R307H ASS1_ENST00000352480.5_Missense_Mutation_p.R307H|ASS1_ENST00000372393.3_Missense_Mutation_p.R307H P00966 ASSY_HUMAN argininosuccinate synthase 1 307 R -> C (in CTLN1). arginine biosynthetic process|urea cycle cytosol argininosuccinate synthase activity|ATP binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(145;0.000514) Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) CGGGAAGTGCGCAAAATCAAA 0.532000 6 846 0 0 1 0 0 SRP9 6726 broad.mit.edu 37 1 225971060 225971060 + Missense_Mutation SNP A A T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr1:225971060A>T ENST00000366839.4 + 2 235 c.131A>T c.(130-132)gAt>gTt p.D44V SRP9_ENST00000304786.7_Missense_Mutation_p.D44V|SRP9_ENST00000366838.1_Missense_Mutation_p.D44V NM_001130440.1 NP_001123912.1 P49458 SRP09_HUMAN signal recognition particle 9kDa 44 negative regulation of translational elongation|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle receptor complex|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding endometrium(1)|kidney(1)|skin(1) 3 AAAGTAACAGATGATTTAGTT 0.279000 89 34 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16378296 16378296 + Silent SNP A A C TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr1:16378296A>C ENST00000375679.4 + 14 1500 c.1389A>C c.(1387-1389)ccA>ccC p.P463P CLCNKB_ENST00000375667.3_Silent_p.P294P NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CCATCATGCCAGGGGGGTATG 0.622000 9 207 0 0 1 0 0 LSS 4047 broad.mit.edu 37 21 47642587 47642587 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr21:47642587G>A ENST00000397728.3 - 4 463 c.385C>T c.(385-387)Cgg>Tgg p.R129W LSS_ENST00000356396.4_Missense_Mutation_p.R129W|LSS_ENST00000522411.1_Missense_Mutation_p.R129W|LSS_ENST00000464357.1_5'UTR|LSS_ENST00000457828.2_Missense_Mutation_p.R49W NM_001145436.1|NM_002340.5 NP_001138908.1|NP_002331.3 P48449 ERG7_HUMAN lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) 129 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 21 Breast(49;0.214) CGCAGGTACCGCACAATCTCT 0.592000 4 139 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7796784 7796784 + Silent SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr17:7796784G>A ENST00000380358.4 + 5 868 c.867G>A c.(865-867)tcG>tcA p.S289S CHD3_ENST00000358181.4_Silent_p.S230S|CHD3_ENST00000330494.7_Silent_p.S230S NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 230 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CTGTCTCGTCGGCCACCCCCA 0.657000 4 121 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228486354 228486354 + Silent SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr1:228486354G>A ENST00000570156.2 + 49 13220 c.13146G>A c.(13144-13146)gcG>gcA p.A4382A OBSCN_ENST00000422127.1_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Silent_p.A1072A|OBSCN_ENST00000366709.4_Intron NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3425 Ig-like 45. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGTCTGTGGCGGATGCTGGGG 0.562000 4 133 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72877251 72877251 + Splice_Site SNP C C A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr7:72877251C>A ENST00000339594.4 - 12 3588 c.e12+1 BAZ1B_ENST00000404251.1_Splice_Site NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) TATATTCCTACCCGGGCTTCA 0.418000 7 577 1.12685e-05 1.21136e-05 1 1 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 6 201 0 0 1 0 0 CABLES2 81928 broad.mit.edu 37 20 60970037 60970037 + Silent SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr20:60970037G>A ENST00000279101.5 - 4 569 c.561C>T c.(559-561)tgC>tgT p.C187C NM_031215.2 NP_112492.2 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 187 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1) 11 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) AGAAGGCCGCGCACAGGGACC 0.657000 4 222 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50805690 50805690 + Missense_Mutation SNP C C A rs80338914 TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr6:50805690C>A ENST00000263046.4 + 6 1017 c.851C>A c.(850-852)gCc>gAc p.A284D TFAP2B_ENST00000393655.3_Missense_Mutation_p.A275D Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 275 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) AATTTCAGAGCCAAATCGAAA 0.423000 5 356 1 1 1 1 0 SERPINA5 5104 broad.mit.edu 37 14 95058575 95058575 + Nonstop_Mutation SNP G G T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr14:95058575G>T ENST00000329597.7 + 6 1430 c.1220G>T c.(1219-1221)tGa>tTa p.*407L SERPINA5_ENST00000554276.1_Nonstop_Mutation_p.*407L|SERPINA5_ENST00000554866.1_Nonstop_Mutation_p.*407L|SERPINA5_ENST00000553780.1_Nonstop_Mutation_p.*407L|SERPINA3_ENST00000553947.1_Intron NM_000624.4 NP_000615.3 P05154 IPSP_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 0 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3) 36 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) AACCGCCCCTGAGGTGGGGCT 0.527000 12 1178 6.40141e-05 6.7687e-05 1 1 0 OR4C15 81309 broad.mit.edu 37 11 55322061 55322061 + Silent SNP C C A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr11:55322061C>A ENST00000314644.2 + 1 279 c.279C>A c.(277-279)ggC>ggA p.G93G NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 CTGTTGGGGGCAACATGCTAA 0.433000 HNSCC(20;0.049) 6 434 2.7689e-08 3.0792e-08 1 1 0 HNF1B 6928 broad.mit.edu 37 17 36065033 36065033 + Missense_Mutation SNP C C A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr17:36065033C>A ENST00000225893.4 - 6 1591 c.1230G>T c.(1228-1230)ttG>ttT p.L410F HNF1B_ENST00000427275.2_Missense_Mutation_p.L384F|HNF1B_ENST00000561193.1_Missense_Mutation_p.L384F|HNF1B_ENST00000560016.1_Missense_Mutation_p.L410F NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 410 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TGACTGGGGGCAAACCTCCTC 0.488000 9 197 0.000274275 0.000280805 1 1 0 PTGES 9536 broad.mit.edu 37 9 132502126 132502126 + Missense_Mutation SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr9:132502126C>T ENST00000340607.4 - 3 257 c.223G>A c.(223-225)Gac>Aac p.D75N PTGES_ENST00000481476.1_5'UTR NM_004878.4 NP_004869.1 O14684 PTGES_HUMAN prostaglandin E synthase 75 Glutathione binding. prostaglandin biosynthetic process|signal transduction integral to membrane|membrane fraction glutathione binding|prostaglandin-E synthase activity lung(1)|skin(1) 2 Ovarian(14;0.00556) GTCTCCATGTCGTTCCGGTGG 0.572000 17 16 0 0 1 0 0 EIF5A2 56648 broad.mit.edu 37 3 170612210 170612210 + Silent SNP C C A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr3:170612210C>A ENST00000295822.2 - 4 458 c.273G>T c.(271-273)ctG>ctT p.L91L EIF5A2_ENST00000487522.1_Intron|EIF5A2_ENST00000474096.1_Intron|EIF5A2_ENST00000460117.1_5'UTR NM_020390.5 NP_065123.1 Q9GZV4 IF5A2_HUMAN eukaryotic translation initiation factor 5A2 91 mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport cytosol|endoplasmic reticulum membrane|nuclear pore protein binding|ribosome binding|translation elongation factor activity large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 3 all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15) GAATGCATATCAGCTATTAGA 0.343000 4 199 0.00024832 0.000258333 1 1 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 5 231 0 0 1 0 0 KDM2A 22992 broad.mit.edu 37 11 67018081 67018081 + Silent SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr11:67018081G>A ENST00000529006.2 + 17 3026 c.2580G>A c.(2578-2580)gaG>gaA p.E860E KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_Silent_p.E421E|KDM2A_ENST00000308783.5_Silent_p.E318E NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 860 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 aggaggaagaggaggaggagg 0.657000 4 82 0 0 1 0 0 FSCN3 29999 broad.mit.edu 37 7 127235710 127235710 + Missense_Mutation SNP G G A rs143868079 by1000genomes TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr7:127235710G>A ENST00000265825.5 + 2 713 c.494G>A c.(493-495)cGc>cAc p.R165H FSCN3_ENST00000420086.2_Missense_Mutation_p.R31H NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 165 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 ACTATGGGCCGCATCTGGGTG 0.612000 6 388 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166946577 166946577 + Silent SNP G G T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr4:166946577G>T ENST00000061240.2 + 9 1799 c.1152G>T c.(1150-1152)ggG>ggT p.G384G TLL1_ENST00000513213.1_Silent_p.G384G|TLL1_ENST00000507499.1_Silent_p.G384G NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 384 CUB 1. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TGACCCCAGGGGAGAAGGTAG 0.388000 133 161 5.75948e-69 6.69346e-69 1 1 0 INSRR 3645 broad.mit.edu 37 1 156812204 156812204 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr1:156812204G>A ENST00000368195.3 - 18 3619 c.3223C>T c.(3223-3225)Cgg>Tgg p.R1075W NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1075 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCTCAGGCCGCAAAGATCGA 0.602000 5 277 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 6 182 0 0 1 0 0 MAMLD1 10046 broad.mit.edu 37 X 149639635 149639635 + Missense_Mutation SNP A A T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chrX:149639635A>T ENST00000370401.2 + 4 2100 c.1790A>T c.(1789-1791)cAg>cTg p.Q597L MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L Q13495 MAMD1_HUMAN mastermind-like domain containing 1 597 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) TTgcagctgcagcagcagcag 0.607000 4 243 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52598121 52598121 + Missense_Mutation SNP A A C TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr3:52598121A>C ENST00000356770.4 - 22 3726 c.3724T>G c.(3724-3726)Ttg>Gtg p.L1242V PBRM1_ENST00000409767.1_Missense_Mutation_p.L1289V|PBRM1_ENST00000409057.1_Missense_Mutation_p.L1274V|PBRM1_ENST00000337303.4_Missense_Mutation_p.L1274V|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Missense_Mutation_p.L1249V|PBRM1_ENST00000296302.7_Missense_Mutation_p.L1274V|PBRM1_ENST00000394830.3_Missense_Mutation_p.L1249V|PBRM1_ENST00000409114.3_Missense_Mutation_p.L1289V Q86U86 PB1_HUMAN polybromo 1 1274 BAH 2. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) AACCTCTTCAATCCTTTGAAT 0.393000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 63 205 0 0 1 0 0 TVP23C 201158 broad.mit.edu 37 17 15441469 15441469 + Splice_Site SNP C C T rs139351610 by1000genomes TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr17:15441469C>T ENST00000584811.1 - 7 1815 c.e7-2 TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) TCCAGTGTTCCGCAAAAGACA 0.393000 5 309 0 0 1 0 0 ZNF224 7767 broad.mit.edu 37 19 44611966 44611966 + Nonsense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr19:44611966G>A ENST00000336976.6 + 6 1907 c.1653G>A c.(1651-1653)tgG>tgA p.W551* AC084219.4_ENST00000592946.1_RNA NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 551 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) GTTTTGGCTGGGCCTCGTGTC 0.413000 121 390 0 0 1 0 0 FUT6 2528 broad.mit.edu 37 19 5831898 5831898 + Silent SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr19:5831898G>A ENST00000318336.4 - 3 1875 c.681C>T c.(679-681)ccC>ccT p.P227P FUT6_ENST00000592563.1_Silent_p.P227P|FUT6_ENST00000527106.1_Silent_p.P227P|FUT6_ENST00000524754.1_Silent_p.P227P|FUT6_ENST00000286955.5_Silent_p.P227P NM_000150.2 NP_000141.1 P51993 FUT6_HUMAN fucosyltransferase 6 (alpha (1,3) fucosyltransferase) 227 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(2) 6 CCTGGGGCAGGGGCTTGTGGG 0.612000 73 628 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70303923 70303923 + Missense_Mutation SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr1:70303923C>T ENST00000310961.5 + 8 923 c.505C>T c.(505-507)Cgg>Tgg p.R169W LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.R202W|LRRC7_ENST00000035383.5_Missense_Mutation_p.R164W Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 164 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TGTCAAATTGCGGATCTTGGA 0.299000 9 141 0 0 1 0 0 HSD17B7 51478 broad.mit.edu 37 1 162769621 162769621 + Missense_Mutation SNP T T G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr1:162769621T>G ENST00000367917.3 + 5 604 c.536T>G c.(535-537)tTc>tGc p.F179C HSD17B7_ENST00000254521.3_Missense_Mutation_p.F179C|HSD17B7_ENST00000485405.1_3'UTR P56937 DHB7_HUMAN hydroxysteroid (17-beta) dehydrogenase 7 179 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_hematologic(112;0.115) NADH(DB00157) AAATCTAATTTCAGCCTCGAG 0.488000 110 15 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 93511319 93511319 + Missense_Mutation SNP G G T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr4:93511319G>T ENST00000282020.4 + 2 384 c.126G>T c.(124-126)gaG>gaT p.E42D GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.E42D NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 42 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AGGATGATGAGGTATTTCGCA 0.378000 14 557 2.32078e-09 2.60331e-09 1 1 0 USP28 57646 broad.mit.edu 37 11 113679043 113679043 + Missense_Mutation SNP C C T rs143699311 TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr11:113679043C>T ENST00000003302.4 - 18 2349 c.2281G>A c.(2281-2283)Ggt>Agt p.G761S USP28_ENST00000545540.1_Missense_Mutation_p.G636S|USP28_ENST00000260188.5_Missense_Mutation_p.G761S|USP28_ENST00000544967.1_Missense_Mutation_p.G469S NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 761 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.G761S(1) breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) GCTTCTACACCGCTCTTCTCA 0.522000 427 94 0 0 1 0 0 PTPN13 0 broad.mit.edu 37 4 87680211 87680211 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr4:87680211G>A ENST00000436978.1 + 23 4018 c.3538G>A c.(3538-3540)Gaa>Aaa p.E1180K PTPN13_ENST00000427191.2_Missense_Mutation_p.E1161K|PTPN13_ENST00000411767.2_Missense_Mutation_p.E1180K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E989K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E1180K NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1180 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TCAGCCAAAAGAAAAGATATC 0.373000 6 191 0 0 1 0 0 SIRT2 22933 broad.mit.edu 37 19 39380781 39380781 + Missense_Mutation SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr19:39380781C>T ENST00000249396.7 - 5 531 c.230G>A c.(229-231)cGc>cAc p.R77H SIRT2_ENST00000358931.5_Missense_Mutation_p.R77H|SIRT2_ENST00000392081.2_Missense_Mutation_p.R40H NM_012237.3 NP_036369.2 Q8IXJ6 SIRT2_HUMAN sirtuin 2 77 Deacetylase sirtuin-type. cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state chromatin silencing complex|cytoplasm|microtubule histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(5)|skin(1) 9 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191) GATGACTCTGCGACCTGGAGG 0.557000 4 264 0 0 1 0 0 IKBIP 121457 broad.mit.edu 37 12 99007736 99007736 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr12:99007736G>A ENST00000342502.2 - 3 1091 c.680C>T c.(679-681)aCg>aTg p.T227M IKBIP_ENST00000420861.1_Missense_Mutation_p.T121M|IKBIP_ENST00000393042.3_3'UTR NM_201612.2 NP_963906.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 227 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 CTTTCGGAGCGTTGCTGTTCG 0.333000 19 416 0 0 1 0 0 ESRRB 2103 broad.mit.edu 37 14 76905998 76905998 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr14:76905998G>A ENST00000380887.2 + 2 374 c.302G>A c.(301-303)cGc>cAc p.R101H ESRRB_ENST00000509242.1_Missense_Mutation_p.R101H|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000556177.1_Missense_Mutation_p.R101H|ESRRB_ENST00000261532.7_Missense_Mutation_p.R101H A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 101 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) ATCCCCAAGCGCCTGTGCCTC 0.622000 101 100 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10084482 10084482 + Missense_Mutation SNP T T C TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr19:10084482T>C ENST00000264828.3 - 49 3647 c.3562A>G c.(3562-3564)Act>Gct p.T1188A NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 1188 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) AGCCCTGGAGTGCCCTGGAGA 0.597000 274 294 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr9:78790192C>G ENST00000376767.3 + 14 2559 c.2047C>G c.(2047-2049)Cga>Gga p.R683G PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_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 5 33 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10298537 10298537 + Silent SNP C C A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr17:10298537C>A ENST00000403437.2 - 34 4969 c.4875G>T c.(4873-4875)ctG>ctT p.L1625L CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1625 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CCATTTCATTCAGATCTCCTT 0.463000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 7 686 2.0095e-06 2.2156e-06 1 1 0 CACNA1B 774 broad.mit.edu 37 9 140880925 140880925 + Silent SNP C C A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr9:140880925C>A ENST00000371372.1 + 14 1975 c.1830C>A c.(1828-1830)atC>atA p.I610I CACNA1B_ENST00000371355.4_Silent_p.I611I|CACNA1B_ENST00000371357.1_Silent_p.I611I|CACNA1B_ENST00000277551.2_Silent_p.I610I|CACNA1B_ENST00000371363.1_Silent_p.I610I|CACNA1B_ENST00000277549.5_5'UTR NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 610 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) AGTCCATCATCAGCCTGCTCT 0.617000 60 83 3.00387e-57 3.45982e-57 1 1 0 DNMT1 1786 broad.mit.edu 37 19 10267152 10267152 + Silent SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr19:10267152G>A ENST00000340748.4 - 17 1501 c.1266C>T c.(1264-1266)atC>atT p.I422I DNMT1_ENST00000540357.1_Silent_p.I422I|DNMT1_ENST00000359526.4_Silent_p.I438I P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 422 DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GGCCGGTGTCGATGGGACACA 0.483000 5 351 0 0 1 0 0 NCOA5 57727 broad.mit.edu 37 20 44699006 44699006 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr20:44699006G>A ENST00000290231.6 - 3 372 c.208C>T c.(208-210)Cgg>Tgg p.R70W NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 70 Arg/Asp-rich (mixed charge).|Transcription repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding p.R70W(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) CTGTGATCCCGCAAATCTCTA 0.562000 6 766 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129828687 129828687 + Silent SNP T T A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr6:129828687T>A ENST00000421865.2 + 62 8806 c.8757T>A c.(8755-8757)ccT>ccA p.P2919P NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2919 Laminin G-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CAGAGGCCCCTGCCGATCTGG 0.478000 61 429 0 0 1 0 0 KLK10 5655 broad.mit.edu 37 19 51518155 51518155 + Silent SNP C C T rs138296032 TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr19:51518155C>T ENST00000309958.3 - 6 950 c.732G>A c.(730-732)tcG>tcA p.S244S KLK10_ENST00000391805.1_Silent_p.S244S|KLK10_ENST00000358789.3_Silent_p.S244S NM_002776.4 NP_002767.2 O43240 KLK10_HUMAN kallikrein-related peptidase 10 244 Peptidase S1. cell cycle|proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) AAACACCCCACGAGAGGATGC 0.537000 21 305 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48621345 48621345 + Missense_Mutation SNP C C G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr4:48621345C>G ENST00000358350.4 - 7 961 c.357G>C c.(355-357)agG>agC p.R119S FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.R119S|FRYL_ENST00000503238.1_Missense_Mutation_p.R119S|FRYL_ENST00000507711.1_Missense_Mutation_p.R119S NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 CTGCTAAGTCCCTCCTTTCAA 0.328000 13 276 0 0 1 0 0 SLMO2 51012 broad.mit.edu 37 20 57613539 57613539 + Silent SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr20:57613539C>T ENST00000355937.4 - 2 361 c.183G>A c.(181-183)ctG>ctA p.L61L SLMO2_ENST00000371033.5_Silent_p.L61L NM_016045.2 NP_057129.2 Q9Y3B1 SLMO2_HUMAN slowmo homolog 2 (Drosophila) 61 PRELI/MSF1. endometrium(1)|lung(2)|skin(2) 5 all_lung(29;0.00711) Colorectal(105;0.109) CAATGGAAGGCAGTCCCCACT 0.443000 6 513 0 0 1 0 0 RIN2 54453 broad.mit.edu 37 20 19955543 19955543 + Missense_Mutation SNP A A G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr20:19955543A>G ENST00000255006.6 + 8 1170 c.1021A>G c.(1021-1023)Agc>Ggc p.S341G RIN2_ENST00000440354.2_Intron|RIN2_ENST00000484638.1_3'UTR NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 292 endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 GAAACGGCCGAGCACAAGGAC 0.612000 36 187 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71101257 71101257 + Silent SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr16:71101257G>A ENST00000393567.2 - 15 2161 c.2011C>T c.(2011-2013)Ctg>Ttg p.L671L HYDIN_ENST00000321489.5_Silent_p.L671L|HYDIN_ENST00000538248.1_Silent_p.L698L|HYDIN_ENST00000448089.2_Silent_p.L671L|HYDIN_ENST00000448691.1_Silent_p.L671L|HYDIN_ENST00000393550.2_Silent_p.L686L|HYDIN_ENST00000288168.10_Silent_p.L688L|HYDIN_ENST00000541601.1_Silent_p.L688L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 671 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ACGAGTGCCAGCTCGTATTTC 0.532000 4 186 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104120022 104120022 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr10:104120022G>A ENST00000369983.3 + 12 1519 c.1259G>A c.(1258-1260)cGc>cAc p.R420H GBF1_ENST00000476019.1_Intron 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 1 420 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) CCACACGACCGCCATAACTCA 0.582000 7 750 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90857513 90857513 + Silent SNP T T A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr4:90857513T>A ENST00000394980.1 + 7 3001 c.2682T>A c.(2680-2682)ctT>ctA p.L894L MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Silent_p.L894L|MMRN1_ENST00000508372.1_Silent_p.L636L Q13201 MMRN1_HUMAN multimerin 1 894 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) ATCAGGCTCTTCAACTGCAAG 0.358000 7 402 0 0 1 0 0 APOL4 80832 broad.mit.edu 37 22 36587621 36587621 + Silent SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr22:36587621C>T ENST00000332987.1 - 7 968 c.546G>A c.(544-546)ggG>ggA p.G182G APOL4_ENST00000352371.1_Silent_p.G185G|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000429038.2_3'UTR Q9BPW4 APOL4_HUMAN apolipoprotein L, 4 186 lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding lung(1) 1 TGGAGGCGATCCCAGCCGTGG 0.552000 38 60 0 0 1 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77042773 77042773 + Missense_Mutation SNP A A G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr17:77042773A>G ENST00000339142.2 + 4 847 c.292A>G c.(292-294)Aaa>Gaa p.K98E C1QTNF1_ENST00000392445.2_Missense_Mutation_p.K98E|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.K16E|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.K16E|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.K108E|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.K98E|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.K98E NM_198593.3 NP_940995.1 Q9BXJ1 C1QT1_HUMAN C1q and tumor necrosis factor related protein 1 98 collagen breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) CACTATCTTGAAAGGTCAGAT 0.632000 OREG0024791 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 419 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167645603 167645603 + Silent SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr5:167645603G>A ENST00000519204.1 + 22 4462 c.4344G>A c.(4342-4344)gcG>gcA p.A1448A TENM2_ENST00000403607.2_Silent_p.A1393A|TENM2_ENST00000518659.1_Silent_p.A1569A|TENM2_ENST00000520394.1_Silent_p.A1330A|TENM2_ENST00000545108.1_Silent_p.A1568A teneurin transmembrane protein 2 GGATCAGGGCGGTCAGCAAGA 0.493000 6 942 0 0 1 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810717 65810717 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr11:65810717G>A ENST00000312006.4 - 3 838 c.557C>T c.(556-558)gCg>gTg p.A186V GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A186V NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 186 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 TGCCTCGGGCGCGCGCAGGAA 0.677000 5 121 0 0 1 0 0 KIF27 55582 broad.mit.edu 37 9 86518491 86518491 + Missense_Mutation SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr9:86518491C>T ENST00000297814.2 - 4 1085 c.942G>A c.(940-942)atG>atA p.M314I KIF27_ENST00000334204.2_Missense_Mutation_p.M314I|KIF27_ENST00000413982.1_Missense_Mutation_p.M314I NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 314 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 CACATGTGATCATGACAGTCT 0.448000 8 387 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123472826 123472826 + Silent SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr12:123472826C>T ENST00000280562.5 - 19 3139 c.2934G>A c.(2932-2934)aaG>aaA p.K978K PITPNM2_ENST00000542749.1_Silent_p.K984K|PITPNM2_ENST00000320201.4_Silent_p.K984K|PITPNM2_ENST00000392428.1_Silent_p.K705K Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 0 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TCTCCCTTGGCTTTGAGGGGG 0.642000 28 826 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414398 20414398 + Missense_Mutation SNP C C G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr9:20414398C>G ENST00000380338.4 - 5 732 c.446G>C c.(445-447)aGc>aCc p.S149T MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.S146T|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 149 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) gctgctgctgctgGTATGAAT 0.493000 T MLL ALL 6 339 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114275283 114275283 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr4:114275283G>A ENST00000357077.4 + 38 5562 c.5509G>A c.(5509-5511)Gca>Aca p.A1837T ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.A1804T|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1804 Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.A1837T(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTCCTCTTCCGCAAAAACTGA 0.507000 5 619 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120818809 120818809 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr10:120818809G>A ENST00000369144.3 - 11 1671 c.1544C>T c.(1543-1545)cCt>cTt p.P515L EIF3A_ENST00000478852.1_Intron|EIF3A_ENST00000541549.1_Missense_Mutation_p.P481L NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 515 formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CTGCTCTGAAGGCATGCTTTG 0.443000 76 284 0 0 1 0 0 MEN1 0 broad.mit.edu 37 11 64574572 64574572 + Splice_Site SNP T T C TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr11:64574572T>C ENST00000337652.1 - 6 1343 c.e6-2 MEN1_ENST00000377326.3_Splice_Site|MEN1_ENST00000394376.1_Splice_Site|MEN1_ENST00000315422.4_Splice_Site|MEN1_ENST00000377321.1_Splice_Site|MEN1_ENST00000394374.2_Splice_Site|MEN1_ENST00000443283.1_Splice_Site|MEN1_ENST00000312049.6_Splice_Site|MEN1_ENST00000377316.2_Splice_Site|MEN1_ENST00000377313.1_Splice_Site NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 ATGGGGTACCTAGGAAAGGAT 0.622000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 78 13 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33588098 33588098 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr20:33588098G>A ENST00000262873.7 + 37 5002 c.4910G>A c.(4909-4911)cGc>cAc p.R1637H NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1595 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) TCCCATAGGCGCAACCACCAG 0.582000 7 1218 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25671330 25671330 + Missense_Mutation SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr4:25671330C>T ENST00000382051.3 + 7 747 c.697C>T c.(697-699)Ccc>Tcc p.P233S SLC34A2_ENST00000504570.1_Missense_Mutation_p.P232S|SLC34A2_ENST00000503434.1_Missense_Mutation_p.P232S NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 233 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) GGTGCTCTTGCCCGTGGAGGT 0.512000 T ROS1 NSCLC 8 762 0 0 1 0 0 ORM1 5004 broad.mit.edu 37 9 117087391 117087391 + Missense_Mutation SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr9:117087391C>T ENST00000259396.8 + 5 577 c.499C>T c.(499-501)Cgc>Tgc p.R167C ORM1_ENST00000477456.1_3'UTR NM_000607.2 NP_000598.2 P02763 A1AG1_HUMAN orosomucoid 1 167 R -> C (in dbSNP:rs3182034). acute-phase response|regulation of immune system process|transport extracellular space protein binding endometrium(2)|large_intestine(4)|lung(2) 8 Myeloproliferative disorder(63;0.163) Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706) CGACTGCTTGCGCATTCCCAA 0.562000 5 399 0 0 1 0 0 CRNKL1 51340 broad.mit.edu 37 20 20018172 20018172 + Missense_Mutation SNP T T C rs111503447 TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr20:20018172T>C ENST00000377340.2 - 14 2205 c.2174A>G c.(2173-2175)gAa>gGa p.E725G CRNKL1_ENST00000377327.4_Missense_Mutation_p.E713G|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E564G|CRNKL1_ENST00000521379.1_5'UTR NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 725 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 CAAACTTCCTTCTTTTCCTGA 0.343000 212 224 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158262047 158262047 + Missense_Mutation SNP C C A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr1:158262047C>A ENST00000368170.3 + 3 781 c.502C>A c.(502-504)Cat>Aat p.H168N NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 168 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) TCTACTCAATCATCAGTATGA 0.448000 6 826 3.59834e-05 3.83624e-05 1 1 0 CIT 11113 broad.mit.edu 37 12 120159148 120159148 + Missense_Mutation SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr12:120159148C>T ENST00000392521.2 - 29 3753 c.3698G>A c.(3697-3699)aGa>aAa p.R1233K CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R1191K NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1191 Interaction with Rho/Rac. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CAAGTCACTTCTTTCTGTCTT 0.483000 5 286 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47676485 47676485 + Missense_Mutation SNP A A T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr4:47676485A>T ENST00000273857.4 - 10 1281 c.1282T>A c.(1282-1284)Tgc>Agc p.C428S CORIN_ENST00000508498.1_Missense_Mutation_p.C289S|CORIN_ENST00000504584.1_Missense_Mutation_p.C391S|CORIN_ENST00000502252.1_Missense_Mutation_p.C361S|CORIN_ENST00000505909.1_Missense_Mutation_p.C391S NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 428 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TTGTAGAGGCATCTTTGGTCT 0.428000 15 403 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123474421 123474421 + Missense_Mutation SNP T T G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr12:123474421T>G ENST00000320201.4 - 17 2782 c.2644A>C c.(2644-2646)Acc>Ccc p.T882P PITPNM2_ENST00000542749.1_Missense_Mutation_p.T882P|PITPNM2_ENST00000280562.5_Intron|PITPNM2_ENST00000392428.1_Missense_Mutation_p.T603P NM_020845.2 NP_065896.1 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 882 DDHD. metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CCAGGGGTGGTGGGGCTGGGG 0.687000 6 59 0 0 1 0 0 TMEM26 219623 broad.mit.edu 37 10 63170286 63170286 + Missense_Mutation SNP G G T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr10:63170286G>T ENST00000399298.3 - 6 1269 c.901C>A c.(901-903)Ctc>Atc p.L301I TMEM26_ENST00000507507.1_5'UTR NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 301 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) AAGCGGTAGAGTTGCAACACC 0.517000 7 213 0.000157383 0.000165061 1 1 0 GCC1 79571 broad.mit.edu 37 7 127222454 127222454 + Missense_Mutation SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr7:127222454C>T ENST00000321407.2 - 2 2366 c.1942G>A c.(1942-1944)Gcc>Acc p.A648T NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 648 Golgi membrane|plasma membrane protein binding breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GGCTCATTGGCCGCTGCAAGT 0.582000 7 502 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887463 9887463 + Silent SNP C C T rs111251988 TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr18:9887463C>T ENST00000306084.6 + 2 1186 c.987C>T c.(985-987)atC>atT p.I329I TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.I262I NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 329 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 AGGGTGACATCCCCAAGTCCC 0.592000 5 400 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123474427 123474427 + Missense_Mutation SNP T T G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr12:123474427T>G ENST00000320201.4 - 17 2776 c.2638A>C c.(2638-2640)Agc>Cgc p.S880R PITPNM2_ENST00000542749.1_Missense_Mutation_p.S880R|PITPNM2_ENST00000280562.5_Intron|PITPNM2_ENST00000392428.1_Missense_Mutation_p.S601R NM_020845.2 NP_065896.1 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 880 DDHD. metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) GTGGTGGGGCTGGGGGCGGGC 0.687000 6 36 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 12 320 0 0 1 0 0 IGSF1 3547 broad.mit.edu 37 X 130411066 130411066 + Missense_Mutation SNP A A G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chrX:130411066A>G ENST00000370904.1 - 20 3338 c.2428T>C c.(2428-2430)Tcc>Ccc p.S810P IGSF1_ENST00000370903.3_Missense_Mutation_p.S824P|IGSF1_ENST00000370910.1_Missense_Mutation_p.S810P|IGSF1_ENST00000361420.3_Missense_Mutation_p.S819P|IGSF1_ENST00000467244.1_5'UTR Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 819 Ig-like C2-type 8. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CTGTCACTGGATGCTATTTCA 0.517000 6 817 0 0 1 0 0 GEMIN2 8487 broad.mit.edu 37 14 39597482 39597482 + Splice_Site SNP A A T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr14:39597482A>T ENST00000308317.6 + 7 647 c.e7-1 GEMIN2_ENST00000396249.2_Splice_Site|GEMIN2_ENST00000250379.8_Splice_Site NM_003616.2 NP_003607.1 O14893 GEMI2_HUMAN gem (nuclear organelle) associated protein 2 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly Cajal body|cytosol|spliceosomal complex protein binding TTTTTTTTTTAGGCAACAGTA 0.308000 9 344 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24483551 24483551 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr22:24483551G>A ENST00000398319.2 + 23 3795 c.3410G>A c.(3409-3411)aGc>aAc p.S1137N CABIN1_ENST00000263119.5_Missense_Mutation_p.S1137N|CABIN1_ENST00000405822.2_Missense_Mutation_p.S1087N NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1137 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GAGATTGACAGCTCCAACTTG 0.552000 4 223 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65309380 65309380 + Silent SNP C C A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr5:65309380C>A ENST00000284037.5 + 6 779 c.390C>A c.(388-390)ctC>ctA p.L130L ERBB2IP_ENST00000416865.2_Silent_p.L130L|ERBB2IP_ENST00000380943.2_Silent_p.L130L|ERBB2IP_ENST00000511297.1_Silent_p.L130L|ERBB2IP_ENST00000380938.2_Silent_p.L130L|ERBB2IP_ENST00000380936.1_Silent_p.L130L|ERBB2IP_ENST00000508515.1_Silent_p.L130L|ERBB2IP_ENST00000380935.1_Silent_p.L130L|ERBB2IP_ENST00000380939.2_Silent_p.L130L|ERBB2IP_ENST00000506030.1_Silent_p.L130L NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 130 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TATGTAGGCTCCCTGATGGAT 0.338000 121 541 1.75003e-54 1.99782e-54 1 1 0 PVRL1 5818 broad.mit.edu 37 11 119535743 119535743 + Missense_Mutation SNP T T C TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr11:119535743T>C ENST00000264025.3 - 6 1798 c.1268A>G c.(1267-1269)gAc>gGc p.D423G PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 423 adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CTTCTCGTCGTCTGAGTCGTC 0.652000 8 180 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35095163 35095163 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr9:35095163G>A ENST00000378617.3 - 2 794 c.400C>T c.(400-402)Cgc>Tgc p.R134C PIGO_ENST00000298004.5_Missense_Mutation_p.R134C|PIGO_ENST00000492770.1_5'UTR|PIGO_ENST00000361778.2_Missense_Mutation_p.R134C|PIGO_ENST00000341666.3_Missense_Mutation_p.R134C NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 134 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GCCTTGAGGCGCTGCATGGTG 0.557000 5 437 0 0 1 0 0 KLHL38 340359 broad.mit.edu 37 8 124664364 124664364 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr8:124664364G>A ENST00000325995.7 - 1 826 c.803C>T c.(802-804)cCa>cTa p.P268L CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 268 p.P268Q(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 TTTGCAGTCTGGGACGGTGGT 0.552000 7 216 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 85969720 85969720 + Missense_Mutation SNP A A G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chrX:85969720A>G ENST00000373131.1 + 5 1225 c.1062A>G c.(1060-1062)atA>atG p.I354M DACH2_ENST00000373125.4_Missense_Mutation_p.I367M|DACH2_ENST00000510272.1_Missense_Mutation_p.I148M|DACH2_ENST00000508860.1_Missense_Mutation_p.I200M NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 367 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 CCTCTGTTATAAAGGTAAGAA 0.398000 34 208 0 0 1 0 0 ZFP64 55734 broad.mit.edu 37 20 50769153 50769153 + Missense_Mutation SNP C C G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr20:50769153C>G ENST00000216923.4 - 6 1927 c.1578G>C c.(1576-1578)ttG>ttC p.L526F ZFP64_ENST00000371515.4_Missense_Mutation_p.L524F|ZFP64_ENST00000346617.4_Missense_Mutation_p.L472F|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron NM_018197.2|NM_199426.1 NP_060667.2|NP_955458.1 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 526 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 TCTGGGCCACCAAGGCAGGCG 0.652000 7 171 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56688700 56688700 + Splice_Site SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr17:56688700G>A ENST00000389934.3 - 10 1123 c.1005_splice c.e10-1 p.R336_splice TEX14_ENST00000349033.5_Splice_Site_p.R336_splice|TEX14_ENST00000240361.8_Splice_Site_p.R342_splice NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 342 Protein kinase. cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) AACTGGGACCGCTGCAAGCAA 0.498000 5 351 0 0 1 0 0 AC005562.1 0 broad.mit.edu 37 17 28961033 28961033 + RNA SNP T T G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr17:28961033T>G ENST00000417404.1 + 0 1291 LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA AGTTCCAGGATATGACTATAA 0.264000 4 122 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35090130 35090130 + Missense_Mutation SNP G G A rs149391665 by1000genomes TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr9:35090130G>A ENST00000378617.3 - 9 3396 c.3002C>T c.(3001-3003)gCg>gTg p.A1001V PIGO_ENST00000298004.5_Missense_Mutation_p.A584V|PIGO_ENST00000361778.2_Missense_Mutation_p.A584V|PIGO_ENST00000341666.3_Missense_Mutation_p.A1001V NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 1001 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GTGCTGAGGCGCATCCCGGAG 0.582000 5 459 0 0 1 0 0 ZNF628 89887 broad.mit.edu 37 19 55994105 55994105 + Silent SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr19:55994105C>T ENST00000391718.2 + 3 2098 c.1533C>T c.(1531-1533)tgC>tgT p.C511C ZNF628_ENST00000598519.1_Silent_p.C515C Q5EBL2 ZN628_HUMAN zinc finger protein 628 511 nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|lung(2) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) GTGGCCAGTGCGGCCTCACCT 0.682000 5 337 0 0 1 0 0 MEPCE 56257 broad.mit.edu 37 7 100028427 100028427 + Silent SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr7:100028427G>A ENST00000310512.2 + 1 1174 c.786G>A c.(784-786)cgG>cgA p.R262R MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 262 methyltransferase activity p.R262R(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTCGGAAGCGGCATAGACACC 0.597000 8 1083 0 0 1 0 0 RPRD1A 55197 broad.mit.edu 37 18 33573139 33573139 + Missense_Mutation SNP G G A rs142715408 TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr18:33573139G>A ENST00000399022.4 - 7 1085 c.914C>T c.(913-915)gCg>gTg p.A305V RPRD1A_ENST00000357384.4_Missense_Mutation_p.A305V|RPRD1A_ENST00000588737.1_Missense_Mutation_p.A269V|RPRD1A_ENST00000590898.1_Missense_Mutation_p.A269V|RPRD1A_ENST00000337059.5_Missense_Mutation_p.A269V NM_018170.3 NP_060640.2 Q96P16 RPR1A_HUMAN regulation of nuclear pre-mRNA domain containing 1A 305 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2) 12 GATGTCTCCCGCAAAGGGCAG 0.532000 5 324 0 0 1 0 0 TSIX 0 broad.mit.edu 37 X 73046100 73046100 + RNA SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chrX:73046100G>A ENST00000604411.1 + 0 34061 XIST_ENST00000429829.1_lincRNA NR_003255.2 CCAACAACCTGACCATTTTAT 0.413000 15 367 0 0 1 0 0 CA5A 763 broad.mit.edu 37 16 87921837 87921837 + Missense_Mutation SNP T T G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr16:87921837T>G ENST00000309893.2 - 7 881 c.816A>C c.(814-816)gaA>gaC p.E272D NM_001739.1 NP_001730.1 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial 272 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(80;0.0513) TCTTCTCCTCTTCACCAAGTG 0.542000 58 8 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111688612 111688612 + Missense_Mutation SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr3:111688612C>T ENST00000431670.2 + 16 3802 c.3391C>T c.(3391-3393)Cac>Tac p.H1131Y PHLDB2_ENST00000393925.3_Missense_Mutation_p.H1131Y|PHLDB2_ENST00000393923.3_Missense_Mutation_p.H1115Y|PHLDB2_ENST00000495180.1_Missense_Mutation_p.H622Y|PHLDB2_ENST00000481953.1_Missense_Mutation_p.H1088Y|PHLDB2_ENST00000412622.1_Missense_Mutation_p.H1088Y NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 1131 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GACTGCTGGCCACAATATTGA 0.468000 26 221 0 0 1 0 0 GSX1 219409 broad.mit.edu 37 13 28367938 28367938 + Silent SNP C C G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr13:28367938C>G ENST00000302945.2 + 2 696 c.648C>G c.(646-648)ggC>ggG p.G216G NM_145657.1 NP_663632.1 Q9H4S2 GSX1_HUMAN GS homeobox 1 216 Poly-Gly. positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) gcggcggcggcgggggtgccg 0.627000 5 272 0 0 1 0 0 TOM1L1 10040 broad.mit.edu 37 17 53007467 53007467 + Missense_Mutation SNP A A T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr17:53007467A>T ENST00000575882.1 + 8 1107 c.754A>T c.(754-756)Agg>Tgg p.R252W TOM1L1_ENST00000445275.2_Missense_Mutation_p.R252W|TOM1L1_ENST00000570371.1_Missense_Mutation_p.R252W|TOM1L1_ENST00000536554.1_Missense_Mutation_p.R175W|TOM1L1_ENST00000575333.1_Missense_Mutation_p.R252W|TOM1L1_ENST00000540336.1_Missense_Mutation_p.R140W|TOM1L1_ENST00000572158.1_Missense_Mutation_p.R245W|TOM1L1_ENST00000348161.4_Missense_Mutation_p.R175W NM_005486.2 NP_005477.2 O75674 TM1L1_HUMAN target of myb1 (chicken)-like 1 252 GAT. intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway cytosol|endosome membrane|Golgi stack|lysosome SH3 domain binding|ubiquitin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 15 GATGCAGGAGAGGATCATGGA 0.418000 11 419 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 12 167 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38750805 38750805 + Missense_Mutation SNP C C A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr6:38750805C>A ENST00000359357.3 + 15 1888 c.1634C>A c.(1633-1635)cCg>cAg p.P545Q DNAH8_ENST00000441566.1_Missense_Mutation_p.P545Q|DNAH8_ENST00000449981.2_Missense_Mutation_p.P762Q 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 TTATCAAGTCCGGACGGTAAA 0.368000 107 16 2.18931e-77 2.56746e-77 1 1 0 GANAB 23193 broad.mit.edu 37 11 62406863 62406863 + Missense_Mutation SNP G G A rs143393884 byFrequency TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr11:62406863G>A ENST00000346178.4 - 3 235 c.220C>T c.(220-222)Ctc>Ttc p.L74F GANAB_ENST00000534779.1_Intron|GANAB_ENST00000540933.1_Intron|GANAB_ENST00000356638.3_Missense_Mutation_p.L74F|GANAB_ENST00000534422.1_5'UTR NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 74 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 TGGACCGTGAGGGAATCAGGA 0.567000 54 181 0 0 1 0 0 GNAQ 2776 broad.mit.edu 37 9 80646047 80646047 + Silent SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr9:80646047G>A ENST00000286548.4 - 1 327 c.105C>T c.(103-105)gaC>gaT p.D35D NM_002072.3 NP_002063.2 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), q polypeptide 35 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1) 302 CCCGGCGGGCGTCCCGCTTGT 0.716000 Mis uveal melanoma 3 51 0 0 1 0 0 FBXO21 23014 broad.mit.edu 37 12 117595774 117595774 + Missense_Mutation SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr12:117595774C>T ENST00000427718.2 - 10 1495 c.1421G>A c.(1420-1422)cGc>cAc p.R474H FBXO21_ENST00000330622.5_Missense_Mutation_p.R481H NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 481 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) CTCCTTTTTGCGCTCAATGTG 0.562000 8 1191 0 0 1 0 0 ZNF440 126070 broad.mit.edu 37 19 11943564 11943564 + Missense_Mutation SNP G G A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr19:11943564G>A ENST00000304060.5 + 4 1737 c.1573G>A c.(1573-1575)Gag>Aag p.E525K NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 525 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 AAAGCCTTCAGAGCTGTGTCA 0.463000 5 322 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654450 38654450 + RNA SNP T T G TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr10:38654450T>G ENST00000494540.1 + 0 617 NR_003086.1 AAATCTAATTTCAGCCTCGAG 0.478000 4 130 0 0 1 0 0 SLC2A14 144195 broad.mit.edu 37 12 7972131 7972131 + Missense_Mutation SNP G G T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr12:7972131G>T ENST00000543909.1 - 14 1846 c.1087C>A c.(1087-1089)Ctt>Att p.L363I SLC2A14_ENST00000542505.1_Missense_Mutation_p.L4I|SLC2A14_ENST00000396589.2_Missense_Mutation_p.L363I|SLC2A14_ENST00000539924.1_Missense_Mutation_p.L378I|SLC2A14_ENST00000340749.5_Missense_Mutation_p.L340I|SLC2A14_ENST00000431042.2_Missense_Mutation_p.L340I|SLC2A14_ENST00000542546.1_Missense_Mutation_p.L254I|SLC2A14_ENST00000535295.1_Missense_Mutation_p.L254I Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 363 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) ATCCCTCCAAGGCCTATCATA 0.428000 6 480 5.18039e-06 5.61572e-06 1 1 0 CDC42BPG 55561 broad.mit.edu 37 11 64595223 64595223 + Missense_Mutation SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr11:64595223C>T ENST00000342711.5 - 31 3999 c.4000G>A c.(4000-4002)Gag>Aag p.E1334K NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1334 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 ATGGAGTTCTCGCTGAACACT 0.637000 51 80 0 0 1 0 0 FKBP14 55033 broad.mit.edu 37 7 30066109 30066109 + Missense_Mutation SNP A A C TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr7:30066109A>C ENST00000222803.5 - 1 191 c.16T>G c.(16-18)Tgg>Ggg p.W6G NM_017946.3 NP_060416.1 Q9NWM8 FKB14_HUMAN FK506 binding protein 14, 22 kDa 6 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|large_intestine(2)|lung(2) 5 ACCGCGTTCCACAAGAAAAGC 0.448000 9 305 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 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 p.Q269Q(15) 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 gctgctgctgctgttgttgtt 0.537000 6 235 0 0 1 0 0 RAD23B 5887 broad.mit.edu 37 9 110087200 110087200 + Missense_Mutation SNP G G C TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr9:110087200G>C ENST00000358015.3 + 9 1382 c.1031G>C c.(1030-1032)gGt>gCt p.G344A RAD23B_ENST00000416373.2_Missense_Mutation_p.G272A NM_001244713.1|NM_002874.4 NP_001231642.1|NP_002865.1 P54727 RD23B_HUMAN RAD23 homolog B (S. cerevisiae) 344 Poly-Gly. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleoplasm|proteasome complex|XPC complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 GGAGGTGGAGGTGGCAGTGGA 0.423000 Direct reversal of damage;Nucleotide excision repair (NER) 4 333 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37029070 37029070 + Missense_Mutation SNP G G T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chrX:37029070G>T ENST00000358047.3 + 1 2639 c.2587G>T c.(2587-2589)Gtt>Ttt p.V863F NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 863 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 AGACCTAGGAGTTAATGAAGA 0.458000 6 357 0.0293803 0.0296099 1 1 0 SPEN 23013 broad.mit.edu 37 1 16257931 16257937 + Frame_Shift_Del DEL TGCCAAG TGCCAAG - rs142022144 TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr1:16257931_16257937delTGCCAAG ENST00000375759.3 + 11 5400_5406 c.5196_5202delTGCCAAG c.(5194-5202)gafs p.DAK1732fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1732 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CTTATCTGGATGCCAAGCCTCCAACTC 0.570 103 645 --- --- --- --- AMPD1 270 broad.mit.edu 37 1 115216566 115216585 + Frame_Shift_Del DEL CAGTGAGATCATTAGCCCTT CAGTGAGATCATTAGCCCTT - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr1:115216566_115216585delCAGTGAGATCATTAGCCCTT ENST00000369538.3 - 13 2053_2072 c.2006_2025delAAGGGCTAATGATCTCACTG c.(2005-2025)afs p.KGLMISL669fs AMPD1_ENST00000353928.6_Frame_Shift_Del_p.KGLMISL640fs|AMPD1_ENST00000520113.2_Frame_Shift_Del_p.KGLMISL673fs NM_001172626.1 NP_001166097.1 P23109 AMPD1_HUMAN adenosine monophosphate deaminase 1 640 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding p.G674W(1)|p.K673N(1)|p.K640N(1)|p.G641W(1) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) CATCTGTAGACAGTGAGATCATTAGCCCTTTCTGAAGGAA 0.395 47 32 --- --- --- --- ANKRD36BP2 0 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 8 14 --- --- --- --- LINC00971 0 broad.mit.edu 37 3 84741480 84741480 + RNA DEL A A - rs140144338 TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr3:84741480delA ENST00000484892.1 - 0 2354 NR_033860.1 CCTGTCCCAGAAAAAAAAAAA 0.388 6 8 --- --- --- --- TLR1 7096 broad.mit.edu 37 4 38798148 38798148 + Frame_Shift_Del DEL A A - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr4:38798148delA ENST00000308979.2 - 4 2578 c.2305delT c.(2305-2307)ggfs p.W769fs TLR1_ENST00000502213.2_Frame_Shift_Del_p.W769fs NM_003263.3 NP_003254.2 Q15399 TLR1_HUMAN toll-like receptor 1 769 TIR. cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 AAGTTAGCCCAAAAAAGGCCA 0.418 7 450 --- --- --- --- C4orf22 255119 broad.mit.edu 37 4 81791254 81791254 + Frame_Shift_Del DEL A A - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr4:81791254delA ENST00000358105.3 + 4 490 c.441delA c.(439-441)ggfs p.G147fs C4orf22_ENST00000508675.1_Frame_Shift_Del_p.G164fs NM_152770.2 NP_689983.2 Q6V702 CD022_HUMAN chromosome 4 open reading frame 22 147 NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5) 15 ACTTTACTGGAAAAAAAAGAC 0.373 7 588 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412094 105412096 + In_Frame_Del DEL GAG GAG - rs146939312 TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr4:105412094_105412096delGAG ENST00000394767.2 - 2 1314_1316 c.864_866delCTC c.(862-867)tcg>tc p.SS290del AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_In_Frame_Del_p.SS121del NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 121 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding p.S120A(1) kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGAGGAGGACGAGGAGGAGGAGG 0.606 7 486 --- --- --- --- ZSCAN16 80345 broad.mit.edu 37 6 28097476 28097480 + Frame_Shift_Del DEL ATGTG ATGTG - rs143274731 TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr6:28097476_28097480delATGTG ENST00000340487.4 + 4 944_948 c.795_799delATGTG c.(793-801)aaatfs p.KCD265fs RP1-265C24.9_ENST00000602810.1_RNA|RP1-265C24.9_ENST00000600652.1_RNA NM_025231.1 NP_079507.1 Q9H4T2 ZSC16_HUMAN zinc finger and SCAN domain containing 16 265 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 AGCCCTATAAATGTGATGAGTGTGG 0.405 139 48 --- --- --- --- PMS2CL 0 broad.mit.edu 37 7 6771663 6771664 + RNA INS - - T TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr7:6771663_6771664insT ENST00000486256.1 + 0 619 NR_002217.1 AGGATTCCTACttttttttttc 0.416 8 239 --- --- --- --- MPP6 51678 broad.mit.edu 37 7 24705666 24705666 + Frame_Shift_Del DEL A A - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr7:24705666delA ENST00000396475.2 + 9 1209 c.910delA c.(910-912)aafs p.K308fs MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs|MPP6_ENST00000222644.4_Frame_Shift_Del_p.K308fs NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 308 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TATAAGTAGCAAAAAAAAGAA 0.299 9 832 --- --- --- --- WNT2 7472 broad.mit.edu 37 7 116955171 116955175 + Frame_Shift_Del DEL TCCTT TCCTT - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr7:116955171_116955175delTCCTT ENST00000265441.3 - 3 837_841 c.538_542delAAGGA c.(538-543)tfs p.KD180fs AC002465.2_ENST00000436097.1_RNA NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 180 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) GGCTCTGGCAtcctttcctttcctt 0.463 7 659 --- --- --- --- TMEM38B 55151 broad.mit.edu 37 9 108456999 108456999 + Frame_Shift_Del DEL T T - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr9:108456999delT ENST00000374692.3 + 1 175 c.58delT c.(58-60)ttfs p.F21fs NM_018112.1 NP_060582.1 Q9NVV0 TM38B_HUMAN transmembrane protein 38B 21 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 13 CATGTTTCCCTTTTTTGACAT 0.627 7 712 --- --- --- --- RABL6 55684 broad.mit.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr9:139734633_139734635delAGA ENST00000371675.3 + 14 2498_2500 c.1613_1615delAGA c.(1612-1617)gag>g p.EK538del RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del RAB, member RAS oncogene family-like 6 CCCTCTaaggagaagaagaagaa 0.571 8 281 --- --- --- --- ACSM4 341392 broad.mit.edu 37 12 7456935 7456935 + Frame_Shift_Del DEL T T - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr12:7456935delT ENST00000399422.4 + 1 56 c.8delT c.(7-9)atfs p.I3fs NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 3 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 ACCATGAAGATTTTTTTCCGC 0.473 8 899 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546056 11546056 + Frame_Shift_Del DEL G G - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr12:11546056delG ENST00000389362.4 - 3 991 c.956delC c.(955-957)cafs p.P322fs PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGAGGAGGTGGGGGACCTTG 0.612 7 871 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57605740 57605742 + In_Frame_Del DEL TGC TGC - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr12:57605740_57605742delTGC ENST00000243077.3 + 87 13755_13757 c.13289_13291delTGC c.(13288-13293)ttg>t p.LL4432del NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4432 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCTCTGCTGTTGCTGCTGCTGCT 0.557 8 687 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 7 1226 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133220099 133220100 + Frame_Shift_Del DEL CA CA - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr12:133220099_133220100delCA ENST00000320574.5 - 34 4380_4381 c.4337_4338delTG c.(4336-4338)gfs p.V1447fs POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1447 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTTTATTGACCACACACACACA 0.604 DNA polymerases (catalytic subunits) 22 1308 --- --- --- --- ZMYM5 9205 broad.mit.edu 37 13 20426143 20426145 + In_Frame_Del DEL CAT CAT - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr13:20426143_20426145delCAT ENST00000337963.4 - 3 440_442 c.176_178delATG c.(175-180)gtt>g p.DV59del ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 59 Poly-Asp. nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) ATAAACACAAcatcatcatcatc 0.379 11 431 --- --- --- --- LIG4 3981 broad.mit.edu 37 13 108861737 108861737 + Frame_Shift_Del DEL T T - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr13:108861737delT ENST00000356922.4 - 2 2152 c.1880delA c.(1879-1881)agfs p.K627fs LIG4_ENST00000442234.1_Frame_Shift_Del_p.K627fs|LIG4_ENST00000405925.1_Frame_Shift_Del_p.K627fs NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 627 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) AGCTTTCCGCTTTTTTTCTTG 0.383 Non-homologous end-joining 8 497 --- --- --- --- HSP90AA1 3320 broad.mit.edu 37 14 102551161 102551163 + In_Frame_Del DEL TCT TCT - rs55793809 byFrequency TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr14:102551161_102551163delTCT ENST00000334701.7 - 6 1483_1485 c.1202_1204delAGA c.(1201-1206)att>a p.KI401del HSP90AA1_ENST00000441629.2_In_Frame_Del_p.KI100del|HSP90AA1_ENST00000216281.8_In_Frame_Del_p.KI279del NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 279 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) ttttccttaatcttcttcttctt 0.389 11 299 --- --- --- --- SLC6A10P 0 broad.mit.edu 37 16 32896136 32896137 + RNA DEL TG TG - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr16:32896136_32896137delTG ENST00000330048.5 - 0 233 NR_003083.2 agtggCCCATtgtgtgtgtgtg 0.678 3 4 --- --- --- --- TUBB8P7 0 broad.mit.edu 37 16 90161966 90161966 + RNA DEL T T - rs56265310 TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr16:90161966delT ENST00000564451.1 + 0 1319 TUBB8P7_ENST00000567960.1_RNA CTACCATGAGTTGGGGTCACC 0.542 6 10 --- --- --- --- TOB1 10140 broad.mit.edu 37 17 48940610 48940612 + In_Frame_Del DEL GTG GTG - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr17:48940610_48940612delGTG ENST00000499247.2 - 2 1200_1202 c.767_769delCAC c.(766-771)cag>c p.PQ256del TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del NM_001243885.1|NM_005749.3 NP_001230814.1|NP_005740.1 P50616 TOB1_HUMAN transducer of ERBB2, 1 256 Poly-Pro. negative regulation of cell proliferation SH3/SH2 adaptor activity breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) tgttgctgctgtggtggtggtgg 0.517 7 199 --- --- --- --- AC079210.1 0 broad.mit.edu 37 17 66539865 66539868 + Frame_Shift_Del DEL GGAA GGAA - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr17:66539865_66539868delGGAA ENST00000600820.1 + 1 497_500 c.124_127delGGAA c.(124-129)ggfs p.GR42fs PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000592554.1_Intron|FAM20A_ENST00000226094.5_Intron GCTGCTGTCTGGAAGGAAGGAAGG 0.510 7 321 --- --- --- --- SRP68 6730 broad.mit.edu 37 17 74068528 74068530 + In_Frame_Del DEL GCC GCC - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr17:74068528_74068530delGCC ENST00000307877.2 - 1 204_206 c.43_45delGGC c.(43-45)del p.G15del SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 15 Poly-Gly. Missing (in Ref. 1). response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 cgccgccactgccgccgccgccg 0.709 9 483 --- --- --- --- TGIF1 7050 broad.mit.edu 37 18 3452222 3452223 + Frame_Shift_Del DEL CT CT - rs11571510 by1000genomes TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr18:3452222_3452223delCT ENST00000330513.5 + 1 548_549 c.245_246delCT c.(244-246)cfs p.P85fs TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000407501.2_Intron NM_170695.2 NP_733796.2 Q15583 TGIF1_HUMAN TGFB-induced factor homeobox 1 85 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.P83fs*51(1) cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Esophageal squamous(4;0.0859) Colorectal(8;0.0104) TGCGCCCCCCCTCCTCCACCGG 0.762 7 147 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr19:38882864_38882866delCCT ENST00000587013.1 + 3 569_571 c.491_493delCCT c.(490-495)ccc>c p.PS164del SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 120 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.645 7 105 --- --- --- --- LPIN3 64900 broad.mit.edu 37 20 39981287 39981287 + Frame_Shift_Del DEL A A - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr20:39981287delA ENST00000373257.3 + 10 1496 c.1405delA c.(1405-1407)aafs p.K469fs NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 469 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) GGACCTCACCAAAAACCCCGG 0.562 7 1435 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 10 313 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000417227.1_In_Frame_Del_p.E203del O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agatgaagaggaagaagaagaag 0.394 TSP Lung(19;0.15) 8 389 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chrX:119694117_119694119delGAG ENST00000371322.5 - 1 436_438 c.375_377delCTC c.(373-378)tca>tc p.SS127del CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 145 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGGTGAAGATgaggaggaggagg 0.488 7 224 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-2L-AAQM-01A-11D-A397-08 TCGA-2L-AAQM-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9c95f04-6d9d-45bd-b94a-1c497a4107b3 8b8b0bf9-463b-4df5-9bb1-7d94a9dc5565 g.chrX:135585048_135585050delAAG ENST00000535601.1 + 6 1104_1106 c.682_684delAAG c.(682-684)del p.K232del HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 232 Poly-Lys. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TGATGCCTCAAAGAAGAAGAAGA 0.335 7 312 --- --- --- ---