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 FBLN7 129804 broad.mit.edu 37 2 112940404 112940404 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr2:112940404G>A ENST00000331203.2 + 6 978 c.707G>A c.(706-708)cGc>cAc p.R236H FBLN7_ENST00000409903.1_Missense_Mutation_p.R236H|FBLN7_ENST00000409450.3_Missense_Mutation_p.R190H|FBLN7_ENST00000409667.3_Intron NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 236 EGF-like 2; calcium-binding (Potential). cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CAGGAGGGGCGCCCCCGGCTC 0.622000 4 99 0 0 1 0 0 HELQ 113510 broad.mit.edu 37 4 84370065 84370065 + Missense_Mutation SNP A A T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr4:84370065A>T ENST00000295488.3 - 3 1224 c.1062T>A c.(1060-1062)aaT>aaA p.N354K HELQ_ENST00000510985.1_Missense_Mutation_p.N354K NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 354 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 AATATATTAAATTTTTTCTTT 0.338000 Other identified genes with known or suspected DNA repair function 3 31 0 0 1 0 0 DPEP3 64180 broad.mit.edu 37 16 68010634 68010634 + Missense_Mutation SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr16:68010634C>T ENST00000268793.4 - 8 1511 c.1138G>A c.(1138-1140)Ggg>Agg p.G380R NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 355 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) CCACCAATCCCGATGAACTCA 0.552000 7 46 0 0 1 0 0 ZCCHC3 85364 broad.mit.edu 37 20 279150 279150 + Missense_Mutation SNP A A G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr20:279150A>G ENST00000382352.3 + 1 1414 c.923A>G c.(922-924)gAg>gGg p.E308G NM_033089.6 NP_149080.2 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 308 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CGCCAGGGGGAGGGCGGGGTC 0.632000 3 111 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36333346 36333346 + Missense_Mutation SNP T T G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr19:36333346T>G ENST00000378910.5 - 18 2440 c.2441A>C c.(2440-2442)tAc>tCc p.Y814S NPHS1_ENST00000353632.6_Missense_Mutation_p.Y814S NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 814 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AATGCACTGGTAAGCGCCAGC 0.582000 19 103 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25255780 25255780 + Missense_Mutation SNP G G T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr13:25255780G>T ENST00000218548.6 + 2 423 c.90G>T c.(88-90)aaG>aaT p.K30N ATP12A_ENST00000381946.3_Missense_Mutation_p.K30N NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 30 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GCAAGGAGAAGTATAGGGGTC 0.473000 9 67 0.38729 0.392823 1 1 0 MIR520F 0 broad.mit.edu 37 19 54185442 54185442 + RNA SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr19:54185442G>A ENST00000384824.1 + 0 30 NR_030186.1 AAAGGGAAGCGCTTTCTGTGG 0.428000 12 75 0 0 1 0 0 WIF1 11197 broad.mit.edu 37 12 65514270 65514270 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr12:65514270T>C ENST00000286574.4 - 2 589 c.215A>G c.(214-216)aAa>aGa p.K72R NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 72 WIF. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity p.K72I(2) cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) CTGTTGTGCTTTTCTGAAATC 0.378000 T HMGA2 pleomorphic salivary gland adenoma 5 109 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5427648 5427648 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr7:5427648G>A ENST00000399537.4 - 5 2155 c.1807C>T c.(1807-1809)Cgc>Tgc p.R603C TNRC18_ENST00000430969.1_Missense_Mutation_p.R603C O15417 TNC18_HUMAN trinucleotide repeat containing 18 603 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CCACCAGGGCGCACGGCCACG 0.672000 3 9 0 0 1 0 0 TFDP1 7027 broad.mit.edu 37 13 114240088 114240088 + Splice_Site SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr13:114240088G>A ENST00000375370.5 + 2 148 c.e2-1 TFDP1_ENST00000544902.1_Splice_Site|TFDP1_ENST00000538138.1_Splice_Site|TFDP1_ENST00000465174.1_Splice_Site NM_007111.4 NP_009042.1 Q14186 TFDP1_HUMAN transcription factor Dp-1 cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) ttttttACCAGAAAAATCATT 0.333000 TSP Lung(29;0.18) 6 41 0 0 1 0 0 USP45 85015 broad.mit.edu 37 6 99955361 99955361 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr6:99955361T>C ENST00000327681.6 - 4 852 c.320A>G c.(319-321)aAg>aGg p.K107R USP45_ENST00000392738.2_5'UTR|USP45_ENST00000472914.2_Missense_Mutation_p.K107R|USP45_ENST00000369233.2_Missense_Mutation_p.K107R|USP45_ENST00000369231.3_Missense_Mutation_p.K107R|USP45_ENST00000369232.2_5'UTR|USP45_ENST00000500704.2_Missense_Mutation_p.K107R|USP45_ENST00000329966.5_Missense_Mutation_p.K107R NM_001080481.1 NP_001073950.1 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 107 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) TCTGGAACTCTTAAAGTGCTT 0.333000 3 70 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702748 27702748 + Silent SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr10:27702748C>T ENST00000438700.3 - 1 549 c.432G>A c.(430-432)gcG>gcA p.A144A NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 144 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GCATCAAGGGCGCCAGCAGGA 0.667000 12 78 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544783 23544783 + Missense_Mutation SNP C C T rs410211 TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr19:23544783C>T ENST00000300619.7 - 4 1203 c.998G>A c.(997-999)cGt>cAt p.R333H ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 333 R -> H (in Ref. 1; AAA59469). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R333H(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAACGGCTAAAAGC 0.393000 4 108 0 0 1 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97380889 97380889 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr10:97380889G>A ENST00000371224.2 - 12 1503 c.1366C>T c.(1366-1368)Cgc>Tgc p.R456C ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R454C NM_002860.3 NP_002851.2 P54886 P5CS_HUMAN aldehyde dehydrogenase 18 family, member A1 456 Gamma-glutamyl phosphate reductase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) CGGGTGCGGCGCAAAACACGT 0.537000 13 67 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52200821 52200821 + Missense_Mutation SNP T T G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr12:52200821T>G ENST00000354534.5 + 27 5729 c.5551T>G c.(5551-5553)Ttc>Gtc p.F1851V SCN8A_ENST00000545061.1_Missense_Mutation_p.F1810V NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1851 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CCTTTTTGCCTTCACCAAGCG 0.557000 26 117 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92139267 92139267 + Silent SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr14:92139267G>A ENST00000256343.3 - 13 1228 c.1072C>T c.(1072-1074)Cta>Tta p.L358L NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 358 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) AGAAATGTTAGCACAGTTGGA 0.368000 4 135 0 0 1 0 0 PCDHB18 0 broad.mit.edu 37 5 140615983 140615983 + RNA SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr5:140615983G>A ENST00000526308.1 + 0 2046 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 GCGTGTGGGCGCACAATGGCG 0.701000 4 145 0 0 1 0 0 FOXA1 3169 broad.mit.edu 37 14 38061231 38061231 + Missense_Mutation SNP A A G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr14:38061231A>G ENST00000250448.2 - 2 819 c.758T>C c.(757-759)aTg>aCg p.M253T FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.M220T NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 253 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding p.M253R(2)|p.M253K(2) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) GTTCTCGAACATGTTGCCGGA 0.687000 4 28 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696424 47696424 + Missense_Mutation SNP G G T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr17:47696424G>T ENST00000393331.3 - 7 869 c.399C>A c.(397-399)ttC>ttA p.F133L SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133L(7) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TGAATTTCTTGAATCCCCAGT 0.448000 Prostate(2;0.17) 15 135 1.15919e-05 1.247e-05 1 1 0 AGA 175 broad.mit.edu 37 4 178360790 178360790 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr4:178360790T>C ENST00000264595.2 - 3 461 c.334A>G c.(334-336)Att>Gtt p.I112V AGA_ENST00000506853.1_5'UTR NM_000027.3|NM_001171988.1 NP_000018.2|NP_001165459.1 P20933 ASPG_HUMAN aspartylglucosaminidase 112 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity p.I112V(1) endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2) 16 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) GCCACACCAATAGCATTTTTA 0.368000 38 271 0 0 1 0 0 AAED1 195827 broad.mit.edu 37 9 99404081 99404081 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr9:99404081T>C ENST00000375234.3 - 6 640 c.641A>G c.(640-642)cAt>cGt p.H214R NM_153698.1 NP_714542.1 Q7RTV5 CI021_HUMAN AhpC/TSA antioxidant enzyme domain containing 1 214 antioxidant activity|oxidoreductase activity AAAGTTCACATGCTGAACTCC 0.403000 16 93 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50607643 50607643 + Silent SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr7:50607643G>A ENST00000444124.2 - 3 485 c.285C>T c.(283-285)tgC>tgT p.C95C DDC_ENST00000357936.5_Silent_p.C95C|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000426377.1_Intron|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000380984.4_Silent_p.C95C|DDC_ENST00000431062.1_Silent_p.C95C NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 95 2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CAATGGCCCCGCACAGCATGT 0.657000 16 29 0 0 1 0 0 IL20RA 53832 broad.mit.edu 37 6 137329811 137329811 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr6:137329811G>A ENST00000367748.1 - 4 902 c.316C>T c.(316-318)Cac>Tac p.H106Y IL20RA_ENST00000541547.1_Missense_Mutation_p.H168Y|IL20RA_ENST00000316649.5_Missense_Mutation_p.H217Y|IL20RA_ENST00000468393.1_5'UTR Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 217 Fibronectin type-III 1. integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) GACTCCACGTGTACGCAGTAA 0.532000 4 118 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 94482577 94482577 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr13:94482577T>C ENST00000377047.4 + 3 1105 c.490T>C c.(490-492)Ttt>Ctt p.F164L GPC6-AS2_ENST00000445540.1_RNA NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 164 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GCTCAATGACTTTTGGGCTCG 0.468000 4 68 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728254 20728254 + Missense_Mutation SNP C C G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr19:20728254C>G ENST00000427401.4 - 4 849 c.755G>C c.(754-756)aGt>aCt p.S252T NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 252 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TTTCTCTCCACTATGAATTAT 0.403000 3 41 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 169953739 169953739 + Silent SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr1:169953739T>C ENST00000367765.1 - 12 2758 c.1257A>G c.(1255-1257)gtA>gtG p.V419V KIFAP3_ENST00000367767.1_Silent_p.V415V|KIFAP3_ENST00000538366.1_Silent_p.V381V|KIFAP3_ENST00000361580.2_Silent_p.V459V|KIFAP3_ENST00000540905.1_Silent_p.V161V NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 459 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGATAAGCTGTACATTTCTTT 0.328000 8 58 0 0 1 0 0 KCTD14 65987 broad.mit.edu 37 11 77728307 77728307 + Missense_Mutation SNP C C G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr11:77728307C>G ENST00000353172.5 - 2 144 c.100G>C c.(100-102)Gtt>Ctt p.V34L KCTD14_ENST00000533144.1_Missense_Mutation_p.V4L|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.C107S|NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.C59S NM_001203260.1|NM_001203262.1|NM_023930.3 NP_001190189.1|NP_001190191.1|NP_076419.2 Q9BQ13 KCD14_HUMAN potassium channel tetramerization domain containing 14 34 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 15 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) AGCTCCACAACAGTAGACATC 0.502000 8 46 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65005959 65005959 + Missense_Mutation SNP G G T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr16:65005959G>T ENST00000394156.3 - 10 1852 c.1399C>A c.(1399-1401)Cat>Aat p.H467N CDH11_ENST00000268603.4_Missense_Mutation_p.H467N|CDH11_ENST00000566827.1_Missense_Mutation_p.H341N P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 467 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GCTTCCTGATGCCGATTGTCT 0.478000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 6 47 0.00307968 0.00326354 1 1 0 CAND1 55832 broad.mit.edu 37 12 67700301 67700301 + Silent SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr12:67700301T>C ENST00000545606.1 + 10 3290 c.2853T>C c.(2851-2853)gtT>gtC p.V951V NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 951 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GAAATGTTGTTGCTGAATGTC 0.423000 12 75 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16378219 16378219 + Missense_Mutation SNP C C T rs121909133 TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr1:16378219C>T ENST00000375679.4 + 14 1423 c.1312C>T c.(1312-1314)Cgc>Tgc p.R438C CLCNKB_ENST00000375667.3_Missense_Mutation_p.R269C NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb p.R438C(1) 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) TGCTATCGGGCGCCTCTTTGG 0.617000 9 260 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580552 40580552 + Missense_Mutation SNP T T G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr19:40580552T>G ENST00000450241.2 - 6 2006 c.1695A>C c.(1693-1695)caA>caC p.Q565H ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H O75290 Z780A_HUMAN zinc finger protein 780A 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCGAATAAGTTGCATATGAA 0.403000 4 148 0 0 1 0 0 BMP7 655 broad.mit.edu 37 20 55746142 55746142 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr20:55746142G>A ENST00000395863.3 - 7 1674 c.1169C>T c.(1168-1170)aCg>aTg p.T390M BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Missense_Mutation_p.T324M NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 390 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) CTTGGGCACCGTTTCCGGGTT 0.517000 4 70 0 0 1 0 0 CDK13 8621 broad.mit.edu 37 7 40085626 40085626 + Splice_Site SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr7:40085626T>C ENST00000181839.4 + 6 3148 c.e6+2 CDK13_ENST00000340829.5_Splice_Site|CDK13_ENST00000484589.1_Splice_Site NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 AAATAATAGGTATGGGTATGA 0.373000 31 101 0 0 1 0 0 RYBP 23429 broad.mit.edu 37 3 72428400 72428400 + Splice_Site SNP A A T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr3:72428400A>T ENST00000477973.1 - 2 600 c.e2+1 NM_012234.5 NP_036366.3 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) CCAGAAACTTACTTGGTTTTC 0.328000 28 99 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 156192555 156192555 + Nonsense_Mutation SNP G G T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr3:156192555G>T ENST00000302490.8 + 8 1421 c.550G>T c.(550-552)Gag>Tag p.E184* KCNAB1_ENST00000490337.1_Nonsense_Mutation_p.E202*|KCNAB1_ENST00000389634.5_Intron|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.E191*|KCNAB1_ENST00000389636.5_Intron NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 202 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GCTGCAGCTCGAGTATGTGGA 0.433000 14 128 4.7546e-09 5.27464e-09 1 1 0 PCDH1 5097 broad.mit.edu 37 5 141242917 141242917 + Silent SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr5:141242917C>T ENST00000287008.3 - 3 3126 c.2979G>A c.(2977-2979)gtG>gtA p.V993V PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000394536.3_Silent_p.V993V|PCDH1_ENST00000456271.1_Silent_p.V981V|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.V971V NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 993 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GGTCCTGTACCACCTGGTGCT 0.637000 3 24 0 0 1 0 0 CRISP2 7180 broad.mit.edu 37 6 49665572 49665572 + Splice_Site SNP C C T rs147611117 TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr6:49665572C>T ENST00000339139.4 - 8 752 c.e8+1 NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) AGTCTACTTACGCAGGACAAT 0.328000 22 138 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43815432 43815432 + Silent SNP A A G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr15:43815432A>G ENST00000382031.1 + 5 2506 c.2475A>G c.(2473-2475)gaA>gaG p.E825E MAP1A_ENST00000300231.5_Silent_p.E587E|MAP1A_ENST00000399453.1_Silent_p.E587E P78559 MAP1A_HUMAN microtubule-associated protein 1A 587 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GACAAGAAGAACATGTGATGA 0.537000 6 22 0 0 1 0 0 C1QTNF9B 387911 broad.mit.edu 37 13 24465562 24465562 + Missense_Mutation SNP T T C rs41286068 by1000genomes TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr13:24465562T>C ENST00000382137.3 - 3 936 c.868A>G c.(868-870)Agc>Ggc p.S290G C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.S290G|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B_ENST00000382145.1_3'UTR|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 290 C1q. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 AGGACAATGCTGCCAGAGGCC 0.507000 4 73 0 0 1 0 0 TRIM29 23650 broad.mit.edu 37 11 120008138 120008138 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr11:120008138G>A ENST00000341846.5 - 1 1023 c.602C>T c.(601-603)cCc>cTc p.P201L NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 201 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) CTCCAGGTGGGGCTTGAGATG 0.647000 7 35 0 0 1 0 0 RPP38 10557 broad.mit.edu 37 10 15145358 15145358 + Silent SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr10:15145358G>A ENST00000378197.4 + 3 559 c.45G>A c.(43-45)aaG>aaA p.K15K RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000378202.5_Silent_p.K15K NM_183005.4 NP_892117.1 P78345 RPP38_HUMAN ribonuclease P/MRP 38kDa subunit 15 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1) 8 CTCTCCGTAAGACGAGACCTC 0.498000 13 74 0 0 1 0 0 CDC37 11140 broad.mit.edu 37 19 10506785 10506785 + Missense_Mutation SNP C C G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr19:10506785C>G ENST00000222005.2 - 2 250 c.197G>C c.(196-198)aGg>aCg p.R66T NM_007065.3 NP_008996.1 Q16543 CDC37_HUMAN cell division cycle 37 66 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) CTTCAGTTTCCTCTGGCACTC 0.677000 27 122 0 0 1 0 0 PRR25 388199 broad.mit.edu 37 16 857600 857600 + Missense_Mutation SNP A A C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr16:857600A>C ENST00000301698.1 + 2 597 c.597A>C c.(595-597)ttA>ttC p.L199F NM_001013638.1 NP_001013660.1 Q96S07 PRR25_HUMAN proline rich 25 199 large_intestine(1)|lung(1)|skin(1) 3 CCCTGCATTTAGAGAAGGGGG 0.701000 5 52 0 0 1 0 0 ENO1 2023 broad.mit.edu 37 1 8923006 8923006 + Splice_Site SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr1:8923006T>C ENST00000234590.4 - 11 1296 c.e11-2 NM_001428.3 NP_001419.1 P06733 ENOA_HUMAN enolase 1, (alpha) gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) AGTCTTGATCTAGGAGAAAAG 0.532000 OREG0013068 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 29 0 0 1 0 0 EPB41L5 57669 broad.mit.edu 37 2 120932465 120932465 + Missense_Mutation SNP A A G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr2:120932465A>G ENST00000443902.2 + 24 2195 c.2053A>G c.(2053-2055)Act>Gct p.T685A AC012363.4_ENST00000455707.1_RNA|EPB41L5_ENST00000452780.1_Silent_p.L727L|EPB41L5_ENST00000263713.5_Silent_p.L728L NM_001184937.1 NP_001171866.1 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 0 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 AGAAGTGTTTACTGACCACTG 0.512000 27 157 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48934221 48934221 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr13:48934221T>C ENST00000267163.4 + 7 814 c.676T>C c.(676-678)Ttt>Ctt p.F226L NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 226 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCTTGACTATTTTATTAAACT 0.313000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 19 91 0 0 1 0 0 THRA 7067 broad.mit.edu 37 17 38233836 38233836 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr17:38233836G>A ENST00000450525.2 + 4 688 c.197G>A c.(196-198)cGc>cAc p.R66H THRA_ENST00000584985.1_Missense_Mutation_p.R66H|THRA_ENST00000394121.4_Missense_Mutation_p.R66H|THRA_ENST00000264637.4_Missense_Mutation_p.R66H|THRA_ENST00000546243.1_Missense_Mutation_p.R66H NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 66 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) TATCACTACCGCTGTATCACT 0.552000 20 154 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87645021 87645021 + Missense_Mutation SNP A A C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr8:87645021A>C ENST00000320005.5 - 11 1326 c.1279T>G c.(1279-1281)Ttt>Gtt p.F427V NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 427 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 CCAGAAAAAAAATTCAAGAGT 0.358000 4 24 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167420049 167420049 + Missense_Mutation SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr5:167420049C>T ENST00000519204.1 + 4 803 c.685C>T c.(685-687)Cgc>Tgc p.R229C TENM2_ENST00000520394.1_Missense_Mutation_p.R159C|TENM2_ENST00000545108.1_Missense_Mutation_p.R350C|TENM2_ENST00000403607.2_Missense_Mutation_p.R183C|TENM2_ENST00000518659.1_Missense_Mutation_p.R350C teneurin transmembrane protein 2 GCCCCCGCCCCGCCTGCTGCC 0.587000 4 88 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196673406 196673406 + Splice_Site SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr2:196673406C>T ENST00000312428.6 - 53 10183 c.10083_splice c.e53+1 p.L3361_splice NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3361 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.L3361F(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TAAAACATACCAAACTATCAT 0.318000 7 83 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20676275 20676275 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr11:20676275G>A ENST00000525748.1 + 16 2528 c.2255G>A c.(2254-2256)tGc>tAc p.C752Y SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 752 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) AAGTTGGTGTGCTCGCCACAG 0.557000 4 112 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68315610 68315610 + Missense_Mutation SNP G G T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr11:68315610G>T ENST00000393799.2 + 5 757 c.490G>T c.(490-492)Gat>Tat p.D164Y PPP6R3_ENST00000529710.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D164Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.D73Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.D164Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D164Y Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 164 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TGCTATCATGGATTTGTTGCT 0.428000 4 114 0.150653 0.15502 1 1 0 ZNF92 168374 broad.mit.edu 37 7 64864202 64864202 + Missense_Mutation SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr7:64864202C>T ENST00000328747.7 + 4 1374 c.1175C>T c.(1174-1176)aCg>aTg p.T392M ZNF92_ENST00000450302.2_Missense_Mutation_p.T323M|ZNF92_ENST00000431504.1_Missense_Mutation_p.T316M|ZNF92_ENST00000357512.2_Missense_Mutation_p.T360M NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 392 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) AGAATTCATACGGGAGAAAAA 0.373000 13 82 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94693450 94693450 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr4:94693450G>A ENST00000282020.4 + 16 3083 c.2825G>A c.(2824-2826)cGc>cAc p.R942H GRID2_ENST00000510992.1_Missense_Mutation_p.R847H NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 942 Interaction with AP4M1 (By similarity). 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) ACTCTTAGCCGCACACTGTCA 0.493000 3 54 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81058166 81058166 + Missense_Mutation SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr10:81058166C>T ENST00000334512.5 + 15 2067 c.1495C>T c.(1495-1497)Ccc>Tcc p.P499S NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 499 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CCTCCAGCCTCCCAGGCCGGT 0.602000 41 257 0 0 1 0 0 AHI1 54806 broad.mit.edu 37 6 135787164 135787164 + Missense_Mutation SNP C C A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr6:135787164C>A ENST00000367800.4 - 5 753 c.537G>T c.(535-537)gaG>gaT p.E179D AHI1_ENST00000327035.6_Missense_Mutation_p.E179D|AHI1_ENST00000457866.2_Missense_Mutation_p.E179D NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 179 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) CTAAATCAGTCTCTTCTCTTC 0.393000 9 55 0.00621372 0.00648785 1 1 0 ANGPT4 51378 broad.mit.edu 37 20 861826 861826 + Silent SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr20:861826C>T ENST00000381922.3 - 5 1041 c.939G>A c.(937-939)acG>acA p.T313T ANGPT4_ENST00000546022.1_Silent_p.T313T NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 313 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 TCCTGGGCTTCGTTGCATTGG 0.597000 9 32 0 0 1 0 0 IQCF3 401067 broad.mit.edu 37 3 51864455 51864455 + Nonsense_Mutation SNP A A T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr3:51864455A>T ENST00000456080.1 + 8 1268 c.103A>T c.(103-105)Aag>Tag p.K35* IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Nonsense_Mutation_p.K35*|IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000440739.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000437810.2_Nonsense_Mutation_p.K35* P0C7M6 IQCF3_HUMAN IQ motif containing F3 35 endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AAAAAGGGTGAAGGCAGCTGG 0.567000 15 43 0 0 1 0 0 OR4X2 119764 broad.mit.edu 37 11 48266787 48266787 + Missense_Mutation SNP C C A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr11:48266787C>A ENST00000302329.3 + 1 180 c.132C>A c.(130-132)agC>agA p.S44R NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TCATGACCAGCAGAAGCCTTG 0.502000 14 117 1.15088e-07 1.25711e-07 1 1 0 HAPLN3 145864 broad.mit.edu 37 15 89424631 89424631 + Silent SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr15:89424631G>A ENST00000359595.3 - 3 664 c.450C>T c.(448-450)gaC>gaT p.D150D HAPLN3_ENST00000562889.1_Silent_p.D212D NM_178232.2 NP_839946.1 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 150 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 17 Lung NSC(78;0.0392)|all_lung(78;0.077) CCTCCAGCCCGTCAATGACCT 0.627000 30 98 0 0 1 0 0 GATS 0 broad.mit.edu 37 7 99821642 99821642 + Missense_Mutation SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr7:99821642C>T ENST00000436886.2 - 3 522 c.274G>A c.(274-276)Gtg>Atg p.V92M GATS_ENST00000543273.1_RNA NM_178831.6 NP_849153.3 Q8NAP1 GATS_HUMAN 92 endometrium(2)|large_intestine(2)|lung(4) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCGGACACCACGTTCAGGGCC 0.622000 18 124 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2380266 2380266 + Silent SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr20:2380266C>T ENST00000202625.2 + 6 793 c.732C>T c.(730-732)ggC>ggT p.G244G TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.G244G NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 244 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) AGTACGGCGGCGGCACCAGCC 0.647000 6 71 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111088622 111088622 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr13:111088622G>A ENST00000360467.5 + 13 1039 c.733G>A c.(733-735)Gta>Ata p.V245I NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 245 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GCAGGGTGACGTAGGGCAGCC 0.478000 7 53 0 0 1 0 0 FBLN7 129804 broad.mit.edu 37 2 112940404 112940404 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr2:112940404G>A ENST00000331203.2 + 6 978 c.707G>A c.(706-708)cGc>cAc p.R236H FBLN7_ENST00000409450.3_Missense_Mutation_p.R190H|FBLN7_ENST00000409667.3_Intron|FBLN7_ENST00000409903.1_Missense_Mutation_p.R236H NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 236 EGF-like 2; calcium-binding (Potential). cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 CAGGAGGGGCGCCCCCGGCTC 0.622000 4 99 0 0 1 0 0 HELQ 113510 broad.mit.edu 37 4 84370065 84370065 + Missense_Mutation SNP A A T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr4:84370065A>T ENST00000295488.3 - 3 1224 c.1062T>A c.(1060-1062)aaT>aaA p.N354K HELQ_ENST00000510985.1_Missense_Mutation_p.N354K NM_133636.2 NP_598375.2 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 354 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 AATATATTAAATTTTTTCTTT 0.338000 Other identified genes with known or suspected DNA repair function 3 31 0 0 1 0 0 DPEP3 64180 broad.mit.edu 37 16 68010634 68010634 + Missense_Mutation SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr16:68010634C>T ENST00000268793.4 - 8 1511 c.1138G>A c.(1138-1140)Ggg>Agg p.G380R NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 355 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) CCACCAATCCCGATGAACTCA 0.552000 7 46 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36333346 36333346 + Missense_Mutation SNP T T G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr19:36333346T>G ENST00000378910.5 - 18 2440 c.2441A>C c.(2440-2442)tAc>tCc p.Y814S NPHS1_ENST00000353632.6_Missense_Mutation_p.Y814S NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 814 Ig-like C2-type 7. cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AATGCACTGGTAAGCGCCAGC 0.582000 19 103 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25255780 25255780 + Missense_Mutation SNP G G T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr13:25255780G>T ENST00000218548.6 + 2 423 c.90G>T c.(88-90)aaG>aaT p.K30N ATP12A_ENST00000381946.3_Missense_Mutation_p.K30N NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 30 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GCAAGGAGAAGTATAGGGGTC 0.473000 9 67 0.38729 0.393158 1 1 0 MIR520F 0 broad.mit.edu 37 19 54185442 54185442 + RNA SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr19:54185442G>A ENST00000384824.1 + 0 30 NR_030186.1 AAAGGGAAGCGCTTTCTGTGG 0.428000 12 75 0 0 1 0 0 WIF1 11197 broad.mit.edu 37 12 65514270 65514270 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr12:65514270T>C ENST00000286574.4 - 2 589 c.215A>G c.(214-216)aAa>aGa p.K72R NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 72 WIF. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity p.K72I(2) cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) CTGTTGTGCTTTTCTGAAATC 0.378000 T HMGA2 pleomorphic salivary gland adenoma 5 109 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5427648 5427648 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr7:5427648G>A ENST00000399537.4 - 5 2155 c.1807C>T c.(1807-1809)Cgc>Tgc p.R603C TNRC18_ENST00000430969.1_Missense_Mutation_p.R603C O15417 TNC18_HUMAN trinucleotide repeat containing 18 603 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CCACCAGGGCGCACGGCCACG 0.672000 3 9 0 0 1 0 0 TFDP1 7027 broad.mit.edu 37 13 114240088 114240088 + Splice_Site SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr13:114240088G>A ENST00000375370.5 + 2 148 c.e2-1 TFDP1_ENST00000544902.1_Splice_Site|TFDP1_ENST00000538138.1_Splice_Site|TFDP1_ENST00000465174.1_Splice_Site NM_007111.4 NP_009042.1 Q14186 TFDP1_HUMAN transcription factor Dp-1 cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) ttttttACCAGAAAAATCATT 0.333000 TSP Lung(29;0.18) 6 41 0 0 1 0 0 USP45 85015 broad.mit.edu 37 6 99955361 99955361 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr6:99955361T>C ENST00000327681.6 - 4 852 c.320A>G c.(319-321)aAg>aGg p.K107R USP45_ENST00000392738.2_5'UTR|USP45_ENST00000369233.2_Missense_Mutation_p.K107R|USP45_ENST00000369231.3_Missense_Mutation_p.K107R|USP45_ENST00000472914.2_Missense_Mutation_p.K107R|USP45_ENST00000369232.2_5'UTR|USP45_ENST00000500704.2_Missense_Mutation_p.K107R|USP45_ENST00000329966.5_Missense_Mutation_p.K107R NM_001080481.1 NP_001073950.1 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 107 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) TCTGGAACTCTTAAAGTGCTT 0.333000 3 70 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702748 27702748 + Silent SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr10:27702748C>T ENST00000438700.3 - 1 549 c.432G>A c.(430-432)gcG>gcA p.A144A NM_001034842.3 NP_001030014.2 Q3KNS1 PTHD3_HUMAN patched domain containing 3 144 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GCATCAAGGGCGCCAGCAGGA 0.667000 12 78 0 0 1 0 0 ALDH18A1 5832 broad.mit.edu 37 10 97380889 97380889 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr10:97380889G>A ENST00000371224.2 - 12 1503 c.1366C>T c.(1366-1368)Cgc>Tgc p.R456C ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R454C NM_002860.3 NP_002851.2 P54886 P5CS_HUMAN aldehyde dehydrogenase 18 family, member A1 456 Gamma-glutamyl phosphate reductase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) CGGGTGCGGCGCAAAACACGT 0.537000 13 67 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52200821 52200821 + Missense_Mutation SNP T T G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr12:52200821T>G ENST00000354534.5 + 27 5729 c.5551T>G c.(5551-5553)Ttc>Gtc p.F1851V SCN8A_ENST00000545061.1_Missense_Mutation_p.F1810V NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1851 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CCTTTTTGCCTTCACCAAGCG 0.557000 26 117 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92139267 92139267 + Silent SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr14:92139267G>A ENST00000256343.3 - 13 1228 c.1072C>T c.(1072-1074)Cta>Tta p.L358L NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 358 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) AGAAATGTTAGCACAGTTGGA 0.368000 4 135 0 0 1 0 0 PCDHB18 0 broad.mit.edu 37 5 140615983 140615983 + RNA SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr5:140615983G>A ENST00000526308.1 + 0 2046 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 GCGTGTGGGCGCACAATGGCG 0.701000 4 145 0 0 1 0 0 FOXA1 3169 broad.mit.edu 37 14 38061231 38061231 + Missense_Mutation SNP A A G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr14:38061231A>G ENST00000250448.2 - 2 819 c.758T>C c.(757-759)aTg>aCg p.M253T FOXA1_ENST00000540786.1_Missense_Mutation_p.M220T|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 253 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding p.M253R(2)|p.M253K(2) breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) GTTCTCGAACATGTTGCCGGA 0.687000 4 28 0 0 1 0 0 SPOP 8405 broad.mit.edu 37 17 47696424 47696424 + Missense_Mutation SNP G G T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr17:47696424G>T ENST00000393331.3 - 7 869 c.399C>A c.(397-399)ttC>ttA p.F133L SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133L(7) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TGAATTTCTTGAATCCCCAGT 0.448000 Prostate(2;0.17) 15 135 1.15919e-05 1.2732e-05 1 1 0 AGA 175 broad.mit.edu 37 4 178360790 178360790 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr4:178360790T>C ENST00000264595.2 - 3 461 c.334A>G c.(334-336)Att>Gtt p.I112V AGA_ENST00000506853.1_5'UTR NM_000027.3|NM_001171988.1 NP_000018.2|NP_001165459.1 P20933 ASPG_HUMAN aspartylglucosaminidase 112 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity p.I112V(1) endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2) 16 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) GCCACACCAATAGCATTTTTA 0.368000 38 271 0 0 1 0 0 AAED1 195827 broad.mit.edu 37 9 99404081 99404081 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr9:99404081T>C ENST00000375234.3 - 6 640 c.641A>G c.(640-642)cAt>cGt p.H214R NM_153698.1 NP_714542.1 Q7RTV5 CI021_HUMAN AhpC/TSA antioxidant enzyme domain containing 1 214 antioxidant activity|oxidoreductase activity AAAGTTCACATGCTGAACTCC 0.403000 16 93 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50607643 50607643 + Silent SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr7:50607643G>A ENST00000444124.2 - 3 485 c.285C>T c.(283-285)tgC>tgT p.C95C DDC_ENST00000357936.5_Silent_p.C95C|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000380984.4_Silent_p.C95C|DDC_ENST00000426377.1_Intron|DDC_ENST00000431062.1_Silent_p.C95C NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 95 2 X approximate tandem repeats. cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CAATGGCCCCGCACAGCATGT 0.657000 16 29 0 0 1 0 0 IL20RA 53832 broad.mit.edu 37 6 137329811 137329811 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr6:137329811G>A ENST00000367748.1 - 4 902 c.316C>T c.(316-318)Cac>Tac p.H106Y IL20RA_ENST00000541547.1_Missense_Mutation_p.H168Y|IL20RA_ENST00000316649.5_Missense_Mutation_p.H217Y|IL20RA_ENST00000468393.1_5'UTR Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 217 Fibronectin type-III 1. integral to membrane receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) GACTCCACGTGTACGCAGTAA 0.532000 4 118 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 94482577 94482577 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr13:94482577T>C ENST00000377047.4 + 3 1105 c.490T>C c.(490-492)Ttt>Ctt p.F164L GPC6-AS2_ENST00000445540.1_RNA NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 164 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) GCTCAATGACTTTTGGGCTCG 0.468000 4 68 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728254 20728254 + Missense_Mutation SNP C C G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr19:20728254C>G ENST00000427401.4 - 4 849 c.755G>C c.(754-756)aGt>aCt p.S252T NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 252 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 TTTCTCTCCACTATGAATTAT 0.403000 3 41 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 169953739 169953739 + Silent SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr1:169953739T>C ENST00000367765.1 - 12 2758 c.1257A>G c.(1255-1257)gtA>gtG p.V419V KIFAP3_ENST00000361580.2_Silent_p.V459V|KIFAP3_ENST00000538366.1_Silent_p.V381V|KIFAP3_ENST00000367767.1_Silent_p.V415V|KIFAP3_ENST00000540905.1_Silent_p.V161V NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 459 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGATAAGCTGTACATTTCTTT 0.328000 8 58 0 0 1 0 0 KCTD14 65987 broad.mit.edu 37 11 77728307 77728307 + Missense_Mutation SNP C C G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr11:77728307C>G ENST00000353172.5 - 2 144 c.100G>C c.(100-102)Gtt>Ctt p.V34L KCTD14_ENST00000533144.1_Missense_Mutation_p.V4L|NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.C59S|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.C107S NM_001203260.1|NM_001203262.1|NM_023930.3 NP_001190189.1|NP_001190191.1|NP_076419.2 Q9BQ13 KCD14_HUMAN potassium channel tetramerization domain containing 14 34 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 15 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1e-24) AGCTCCACAACAGTAGACATC 0.502000 8 46 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65005959 65005959 + Missense_Mutation SNP G G T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr16:65005959G>T ENST00000394156.3 - 10 1852 c.1399C>A c.(1399-1401)Cat>Aat p.H467N CDH11_ENST00000566827.1_Missense_Mutation_p.H341N|CDH11_ENST00000268603.4_Missense_Mutation_p.H467N P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 467 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) GCTTCCTGATGCCGATTGTCT 0.478000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 6 47 0.00307968 0.00332804 1 1 0 CAND1 55832 broad.mit.edu 37 12 67700301 67700301 + Silent SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr12:67700301T>C ENST00000545606.1 + 10 3290 c.2853T>C c.(2851-2853)gtT>gtC p.V951V NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 951 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) GAAATGTTGTTGCTGAATGTC 0.423000 12 75 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16378219 16378219 + Missense_Mutation SNP C C T rs121909133 TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr1:16378219C>T ENST00000375679.4 + 14 1423 c.1312C>T c.(1312-1314)Cgc>Tgc p.R438C CLCNKB_ENST00000375667.3_Missense_Mutation_p.R269C NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb p.R438C(1) 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) TGCTATCGGGCGCCTCTTTGG 0.617000 9 260 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580552 40580552 + Missense_Mutation SNP T T G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr19:40580552T>G ENST00000450241.2 - 6 2006 c.1695A>C c.(1693-1695)caA>caC p.Q565H ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|AC005614.5_ENST00000595508.1_RNA O75290 Z780A_HUMAN zinc finger protein 780A 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCGAATAAGTTGCATATGAA 0.403000 4 148 0 0 1 0 0 BMP7 655 broad.mit.edu 37 20 55746142 55746142 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr20:55746142G>A ENST00000395863.3 - 7 1674 c.1169C>T c.(1168-1170)aCg>aTg p.T390M BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Missense_Mutation_p.T324M NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 390 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) CTTGGGCACCGTTTCCGGGTT 0.517000 4 70 0 0 1 0 0 CDK13 8621 broad.mit.edu 37 7 40085626 40085626 + Splice_Site SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr7:40085626T>C ENST00000181839.4 + 6 3148 c.e6+2 CDK13_ENST00000340829.5_Splice_Site|CDK13_ENST00000484589.1_Splice_Site NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 AAATAATAGGTATGGGTATGA 0.373000 31 101 0 0 1 0 0 RYBP 23429 broad.mit.edu 37 3 72428400 72428400 + Splice_Site SNP A A T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr3:72428400A>T ENST00000477973.1 - 2 600 c.e2+1 NM_012234.5 NP_036366.3 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) CCAGAAACTTACTTGGTTTTC 0.328000 28 99 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 156192555 156192555 + Nonsense_Mutation SNP G G T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr3:156192555G>T ENST00000302490.8 + 8 1421 c.550G>T c.(550-552)Gag>Tag p.E184* KCNAB1_ENST00000389634.5_Intron|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Nonsense_Mutation_p.E202*|KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.E191* NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 202 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GCTGCAGCTCGAGTATGTGGA 0.433000 14 128 4.7546e-09 5.3993e-09 1 1 0 PCDH1 5097 broad.mit.edu 37 5 141242917 141242917 + Silent SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr5:141242917C>T ENST00000287008.3 - 3 3126 c.2979G>A c.(2977-2979)gtG>gtA p.V993V PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Silent_p.V981V|PCDH1_ENST00000536585.1_Silent_p.V971V|PCDH1_ENST00000394536.3_Silent_p.V993V NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 993 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GGTCCTGTACCACCTGGTGCT 0.637000 3 24 0 0 1 0 0 CRISP2 7180 broad.mit.edu 37 6 49665572 49665572 + Splice_Site SNP C C T rs147611117 TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr6:49665572C>T ENST00000339139.4 - 8 752 c.e8+1 NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) AGTCTACTTACGCAGGACAAT 0.328000 22 138 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43815432 43815432 + Silent SNP A A G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr15:43815432A>G ENST00000382031.1 + 5 2506 c.2475A>G c.(2473-2475)gaA>gaG p.E825E MAP1A_ENST00000300231.5_Silent_p.E587E|MAP1A_ENST00000399453.1_Silent_p.E587E P78559 MAP1A_HUMAN microtubule-associated protein 1A 587 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GACAAGAAGAACATGTGATGA 0.537000 6 22 0 0 1 0 0 TRIM29 23650 broad.mit.edu 37 11 120008138 120008138 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr11:120008138G>A ENST00000341846.5 - 1 1023 c.602C>T c.(601-603)cCc>cTc p.P201L NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 201 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) CTCCAGGTGGGGCTTGAGATG 0.647000 7 35 0 0 1 0 0 RPP38 10557 broad.mit.edu 37 10 15145358 15145358 + Silent SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr10:15145358G>A ENST00000378197.4 + 3 559 c.45G>A c.(43-45)aaG>aaA p.K15K NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000378202.5_Silent_p.K15K|RPP38_ENST00000451677.1_Intron NM_183005.4 NP_892117.1 P78345 RPP38_HUMAN ribonuclease P/MRP 38kDa subunit 15 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1) 8 CTCTCCGTAAGACGAGACCTC 0.498000 13 74 0 0 1 0 0 CDC37 11140 broad.mit.edu 37 19 10506785 10506785 + Missense_Mutation SNP C C G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr19:10506785C>G ENST00000222005.2 - 2 250 c.197G>C c.(196-198)aGg>aCg p.R66T NM_007065.3 NP_008996.1 Q16543 CDC37_HUMAN cell division cycle 37 66 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) CTTCAGTTTCCTCTGGCACTC 0.677000 27 122 0 0 1 0 0 PRR25 388199 broad.mit.edu 37 16 857600 857600 + Missense_Mutation SNP A A C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr16:857600A>C ENST00000301698.1 + 2 597 c.597A>C c.(595-597)ttA>ttC p.L199F NM_001013638.1 NP_001013660.1 Q96S07 PRR25_HUMAN proline rich 25 199 large_intestine(1)|lung(1)|skin(1) 3 CCCTGCATTTAGAGAAGGGGG 0.701000 5 52 0 0 1 0 0 ENO1 2023 broad.mit.edu 37 1 8923006 8923006 + Splice_Site SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr1:8923006T>C ENST00000234590.4 - 11 1296 c.e11-2 NM_001428.3 NP_001419.1 P06733 ENOA_HUMAN enolase 1, (alpha) gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) AGTCTTGATCTAGGAGAAAAG 0.532000 OREG0013068 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 29 0 0 1 0 0 EPB41L5 57669 broad.mit.edu 37 2 120932465 120932465 + Missense_Mutation SNP A A G TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr2:120932465A>G ENST00000443902.2 + 24 2195 c.2053A>G c.(2053-2055)Act>Gct p.T685A AC012363.4_ENST00000455707.1_RNA|EPB41L5_ENST00000263713.5_Silent_p.L728L|EPB41L5_ENST00000452780.1_Silent_p.L727L NM_001184937.1 NP_001171866.1 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 0 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 AGAAGTGTTTACTGACCACTG 0.512000 27 157 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48934221 48934221 + Missense_Mutation SNP T T C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr13:48934221T>C ENST00000267163.4 + 7 814 c.676T>C c.(676-678)Ttt>Ctt p.F226L NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 226 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCTTGACTATTTTATTAAACT 0.313000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 19 91 0 0 1 0 0 THRA 7067 broad.mit.edu 37 17 38233836 38233836 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr17:38233836G>A ENST00000450525.2 + 4 688 c.197G>A c.(196-198)cGc>cAc p.R66H THRA_ENST00000264637.4_Missense_Mutation_p.R66H|THRA_ENST00000546243.1_Missense_Mutation_p.R66H|THRA_ENST00000584985.1_Missense_Mutation_p.R66H|THRA_ENST00000394121.4_Missense_Mutation_p.R66H NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 66 negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) TATCACTACCGCTGTATCACT 0.552000 20 154 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87645021 87645021 + Missense_Mutation SNP A A C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr8:87645021A>C ENST00000320005.5 - 11 1326 c.1279T>G c.(1279-1281)Ttt>Gtt p.F427V NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 427 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 CCAGAAAAAAAATTCAAGAGT 0.358000 4 24 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167420049 167420049 + Missense_Mutation SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr5:167420049C>T ENST00000519204.1 + 4 803 c.685C>T c.(685-687)Cgc>Tgc p.R229C TENM2_ENST00000520394.1_Missense_Mutation_p.R159C|TENM2_ENST00000545108.1_Missense_Mutation_p.R350C|TENM2_ENST00000403607.2_Missense_Mutation_p.R183C|TENM2_ENST00000518659.1_Missense_Mutation_p.R350C teneurin transmembrane protein 2 GCCCCCGCCCCGCCTGCTGCC 0.587000 4 88 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196673406 196673406 + Splice_Site SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr2:196673406C>T ENST00000312428.6 - 53 10183 c.10083_splice c.e53+1 p.L3361_splice NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3361 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.L3361F(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TAAAACATACCAAACTATCAT 0.318000 7 83 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20676275 20676275 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr11:20676275G>A ENST00000525748.1 + 16 2528 c.2255G>A c.(2254-2256)tGc>tAc p.C752Y SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 752 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) AAGTTGGTGTGCTCGCCACAG 0.557000 4 112 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68315610 68315610 + Missense_Mutation SNP G G T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr11:68315610G>T ENST00000393799.2 + 5 757 c.490G>T c.(490-492)Gat>Tat p.D164Y PPP6R3_ENST00000534534.1_Missense_Mutation_p.D73Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.D164Y Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 164 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TGCTATCATGGATTTGTTGCT 0.428000 4 114 0.150653 0.155289 1 1 0 ZNF92 168374 broad.mit.edu 37 7 64864202 64864202 + Missense_Mutation SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr7:64864202C>T ENST00000328747.7 + 4 1374 c.1175C>T c.(1174-1176)aCg>aTg p.T392M ZNF92_ENST00000450302.2_Missense_Mutation_p.T323M|ZNF92_ENST00000431504.1_Missense_Mutation_p.T316M|ZNF92_ENST00000357512.2_Missense_Mutation_p.T360M NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 392 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) AGAATTCATACGGGAGAAAAA 0.373000 13 82 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94693450 94693450 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr4:94693450G>A ENST00000282020.4 + 16 3083 c.2825G>A c.(2824-2826)cGc>cAc p.R942H GRID2_ENST00000510992.1_Missense_Mutation_p.R847H NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 942 Interaction with AP4M1 (By similarity). 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) ACTCTTAGCCGCACACTGTCA 0.493000 3 54 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81058166 81058166 + Missense_Mutation SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr10:81058166C>T ENST00000334512.5 + 15 2067 c.1495C>T c.(1495-1497)Ccc>Tcc p.P499S NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 499 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CCTCCAGCCTCCCAGGCCGGT 0.602000 41 257 0 0 1 0 0 AHI1 54806 broad.mit.edu 37 6 135787164 135787164 + Missense_Mutation SNP C C A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr6:135787164C>A ENST00000367800.4 - 5 753 c.537G>T c.(535-537)gaG>gaT p.E179D AHI1_ENST00000457866.2_Missense_Mutation_p.E179D|AHI1_ENST00000327035.6_Missense_Mutation_p.E179D NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 179 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) CTAAATCAGTCTCTTCTCTTC 0.393000 9 55 0.00621372 0.00650498 1 1 0 ANGPT4 51378 broad.mit.edu 37 20 861826 861826 + Silent SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr20:861826C>T ENST00000381922.3 - 5 1041 c.939G>A c.(937-939)acG>acA p.T313T ANGPT4_ENST00000546022.1_Silent_p.T313T NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 313 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 TCCTGGGCTTCGTTGCATTGG 0.597000 9 32 0 0 1 0 0 IQCF3 401067 broad.mit.edu 37 3 51864455 51864455 + Nonsense_Mutation SNP A A T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr3:51864455A>T ENST00000456080.1 + 8 1268 c.103A>T c.(103-105)Aag>Tag p.K35* IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Nonsense_Mutation_p.K35*|IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000440739.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000437810.2_Nonsense_Mutation_p.K35* P0C7M6 IQCF3_HUMAN IQ motif containing F3 35 endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AAAAAGGGTGAAGGCAGCTGG 0.567000 15 43 0 0 1 0 0 OR4X2 119764 broad.mit.edu 37 11 48266787 48266787 + Missense_Mutation SNP C C A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr11:48266787C>A ENST00000302329.3 + 1 180 c.132C>A c.(130-132)agC>agA p.S44R NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TCATGACCAGCAGAAGCCTTG 0.502000 14 117 1.15088e-07 1.28515e-07 1 1 0 HAPLN3 145864 broad.mit.edu 37 15 89424631 89424631 + Silent SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr15:89424631G>A ENST00000359595.3 - 3 664 c.450C>T c.(448-450)gaC>gaT p.D150D HAPLN3_ENST00000562889.1_Silent_p.D212D NM_178232.2 NP_839946.1 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 150 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 17 Lung NSC(78;0.0392)|all_lung(78;0.077) CCTCCAGCCCGTCAATGACCT 0.627000 30 98 0 0 1 0 0 GATS 0 broad.mit.edu 37 7 99821642 99821642 + Missense_Mutation SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr7:99821642C>T ENST00000436886.2 - 3 522 c.274G>A c.(274-276)Gtg>Atg p.V92M GATS_ENST00000543273.1_RNA NM_178831.6 NP_849153.3 Q8NAP1 GATS_HUMAN 92 endometrium(2)|large_intestine(2)|lung(4) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCGGACACCACGTTCAGGGCC 0.622000 18 124 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2380266 2380266 + Silent SNP C C T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr20:2380266C>T ENST00000202625.2 + 6 793 c.732C>T c.(730-732)ggC>ggT p.G244G TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.G244G NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 244 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) AGTACGGCGGCGGCACCAGCC 0.647000 6 71 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111088622 111088622 + Missense_Mutation SNP G G A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr13:111088622G>A ENST00000360467.5 + 13 1039 c.733G>A c.(733-735)Gta>Ata p.V245I NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 245 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GCAGGGTGACGTAGGGCAGCC 0.478000 7 53 0 0 1 0 0 CELA3A 10136 broad.mit.edu 37 1 22332001 22332001 + Frame_Shift_Del DEL C C - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr1:22332001delC ENST00000290122.3 + 3 210 c.191delC c.(190-192)gcfs p.A64fs CELA3A_ENST00000374663.1_Frame_Shift_Del_p.A64fs NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AGCCTCATCGCCCCCGATTGG 0.627 OREG0013211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 207 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 11 395 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 3 5 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708854 180708854 + RNA DEL A A - rs60396213 TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr5:180708854delA ENST00000412295.2 + 0 238 GAGCGGTAGGAGGGGGGCTGG 0.692 3 5 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5352528 5352530 + In_Frame_Del DEL GAG GAG - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr7:5352528_5352530delGAG ENST00000399537.4 - 27 8340_8342 c.7992_7994delCTC c.(7990-7995)tct>tc p.SS2670del TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del O15417 TNC18_HUMAN trinucleotide repeat containing 18 2670 Ser-rich. DNA binding p.S2671delS(2)|p.P1177delP(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) agaggaggaagaggaggaggagg 0.640 3 6 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 10 169 --- --- --- --- RP11-509J21.1 0 broad.mit.edu 37 9 3661724 3661726 + RNA DEL CTG CTG - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr9:3661724_3661726delCTG ENST00000423112.2 + 0 394 gctgttatcactgctgctgctgc 0.507 2 4 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57605740 57605742 + In_Frame_Del DEL TGC TGC - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e 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 7 263 --- --- --- --- CARS2 79587 broad.mit.edu 37 13 111358330 111358330 + Frame_Shift_Del DEL C C - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr13:111358330delC ENST00000257347.4 - 1 174 c.111delG c.(109-111)ggfs p.G37fs CARS2_ENST00000535398.1_Intron NM_024537.2 NP_078813.1 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial (putative) 37 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) cccgcccgcgccccccgctcg 0.781 2 4 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 8 143 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691799 106691801 + RNA DEL ACT ACT - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr14:106691799_106691801delACT ENST00000390607.2 - 0 301_303 AGTATATGTAACTACTACTACTA 0.517 7 276 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93540315 93540316 + Frame_Shift_Ins INS - - A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr15:93540315_93540316insA ENST00000394196.4 + 29 4792_4793 c.3724_3725insA c.(3724-3726)aaafs p.K1242fs CHD2_ENST00000557381.1_Frame_Shift_Ins_p.K1242fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1242 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GGACCCTGAAGAAAAAAAAAAG 0.347 7 66 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1824298 1824300 + In_Frame_Del DEL TGC TGC - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr16:1824298_1824300delTGC ENST00000307394.7 + 3 422_424 c.422_424delTGC c.(421-426)ttg>t p.LL143del EME2_ENST00000568449.1_In_Frame_Del_p.LL143del A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 143 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 GAACAGGAATTGCTGCTGCTGCT 0.655 Direct reversal of damage;Homologous recombination 8 205 --- --- --- --- CCDC101 112869 broad.mit.edu 37 16 28597027 28597027 + Frame_Shift_Del DEL A A - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr16:28597027delA ENST00000317058.3 + 4 397 c.210delA c.(208-210)gcfs p.A70fs NM_138414.2 NP_612423.1 Q96ES7 SGF29_HUMAN coiled-coil domain containing 101 70 establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex methylated histone residue binding central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 AGGCCGATGCAGAGGCTGAGT 0.607 21 93 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 7 83 --- --- --- --- CCDC144B 0 broad.mit.edu 37 17 18498497 18498498 + RNA INS - - A rs72195768 TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr17:18498497_18498498insA ENST00000442583.1 - 0 749 NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 36 CTGCAGGCCTGAAAAAAAAAAA 0.243 4 2 --- --- --- --- OSBPL1A 114876 broad.mit.edu 37 18 21750331 21750331 + Frame_Shift_Del DEL T T - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 30f84a45-9998-47d3-87da-030f357d928e g.chr18:21750331delT ENST00000319481.3 - 24 2584 c.2378delA c.(2377-2379)atfs p.N793fs OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.N280fs|OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.N411fs NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 793 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TTTCTTATCATTTTTTTTGTA 0.393 7 95 --- --- --- --- CELA3A 10136 broad.mit.edu 37 1 22332001 22332001 + Frame_Shift_Del DEL C C - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr1:22332001delC ENST00000290122.3 + 3 210 c.191delC c.(190-192)gcfs p.A64fs CELA3A_ENST00000374663.1_Frame_Shift_Del_p.A64fs NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AGCCTCATCGCCCCCGATTGG 0.627 OREG0013211 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 207 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27023376 27023377 + In_Frame_Ins INS - - CGC TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr1:27023376_27023377insCGC ENST00000324856.7 + 1 853_854 c.482_483insCGC c.(481-483)ggc>gCGCgc p.161_161G>AR ARID1A_ENST00000457599.2_In_Frame_Ins_p.161_161G>AR NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 161 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.P158fs*236(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCGTCTGCCGTCGCCGCCGCCG 0.752 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 5 5 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 3 5 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 124079813 124079815 + In_Frame_Del DEL CTC CTC - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr5:124079813_124079815delCTC ENST00000306315.5 - 1 1303_1305 c.868_870delGAG c.(868-870)del p.E290del ZNF608_ENST00000504926.1_Intron NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 290 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCTGTGGCTCTCCTCCTCCTCC 0.522 7 262 --- --- --- --- RBM27 54439 broad.mit.edu 37 5 145647319 145647320 + Frame_Shift_Ins INS - - A TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr5:145647319_145647320insA ENST00000265271.5 + 15 2605_2606 c.2439_2440insA c.(2437-2442)ctaaaafs p.LK813fs RBM27_ENST00000506502.1_Frame_Shift_Ins_p.LK758fs NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 813 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding p.K816fs*5(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGAAGTGCTTAAAAAAAAACA 0.351 7 76 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5352528 5352530 + In_Frame_Del DEL GAG GAG - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr7:5352528_5352530delGAG ENST00000399537.4 - 27 8340_8342 c.7992_7994delCTC c.(7990-7995)tct>tc p.SS2670del TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del O15417 TNC18_HUMAN trinucleotide repeat containing 18 2670 Ser-rich. DNA binding p.S2671delS(2)|p.P1177delP(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) agaggaggaagaggaggaggagg 0.640 3 6 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142459777 142459778 + RNA INS - - A rs144781370 by1000genomes TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr8:142459777_142459778insA ENST00000430863.1 - 0 2629_2630 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 GCAGACAGGCCAGCAGTGTGGT 0.678 2 4 --- --- --- --- CARS2 79587 broad.mit.edu 37 13 111358330 111358330 + Frame_Shift_Del DEL C C - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr13:111358330delC ENST00000257347.4 - 1 174 c.111delG c.(109-111)ggfs p.G37fs CARS2_ENST00000535398.1_Intron NM_024537.2 NP_078813.1 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial (putative) 37 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) cccgcccgcgccccccgctcg 0.781 2 4 --- --- --- --- CCDC101 112869 broad.mit.edu 37 16 28597027 28597027 + Frame_Shift_Del DEL A A - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr16:28597027delA ENST00000317058.3 + 4 397 c.210delA c.(208-210)gcfs p.A70fs NM_138414.2 NP_612423.1 Q96ES7 SGF29_HUMAN coiled-coil domain containing 101 70 establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex methylated histone residue binding central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 10 AGGCCGATGCAGAGGCTGAGT 0.607 21 93 --- --- --- --- OSBPL1A 114876 broad.mit.edu 37 18 21750331 21750331 + Frame_Shift_Del DEL T T - TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx 478b235e-7e7f-4dbb-810b-44a50240b359 d2a35e27-301b-4cd6-8246-bd0ac6c2e023 g.chr18:21750331delT ENST00000319481.3 - 24 2584 c.2378delA c.(2377-2379)atfs p.N793fs OSBPL1A_ENST00000357041.4_Frame_Shift_Del_p.N411fs|OSBPL1A_ENST00000399443.3_Frame_Shift_Del_p.N280fs NM_080597.3 NP_542164.2 Q9BXW6 OSBL1_HUMAN oxysterol binding protein-like 1A 793 cholesterol metabolic process|lipid transport|vesicle-mediated transport phospholipid binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17) TTTCTTATCATTTTTTTTGTA 0.393 7 95 --- --- --- ---