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 DTX2 113878 broad.mit.edu 37 7 76112193 76112193 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:76112193C>T ENST00000324432.5 + 5 1147 c.637C>T c.(637-639)Cgc>Tgc p.R213C DTX2_ENST00000446820.2_Missense_Mutation_p.R213C|DTX2_ENST00000413936.2_Missense_Mutation_p.R213C|DTX2_ENST00000307569.8_Missense_Mutation_p.R213C|DTX2_ENST00000446600.1_Missense_Mutation_p.R122C|DTX2_ENST00000430490.2_Missense_Mutation_p.R213C NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 213 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 CGTGTCAGGCCGCTACCGCCA 0.662000 30 642 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32774524 32774524 + Missense_Mutation SNP T T C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr2:32774524T>C ENST00000421745.2 + 65 13254 c.13120T>C c.(13120-13122)Tca>Cca p.S4374P NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4374 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CCCAGCCATGTCATCTTATCT 0.393000 38 314 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66434562 66434562 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr3:66434562C>T ENST00000383703.3 - 15 2599 c.1996G>A c.(1996-1998)Gct>Act p.A666T LRIG1_ENST00000273261.3_Missense_Mutation_p.A642T|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 642 Ig-like C2-type 2. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCACGGGCAGCGGGGAAATCC 0.562000 21 427 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24310294 24310294 + Missense_Mutation SNP T T G TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:24310294T>G ENST00000357002.4 + 4 1607 c.1492T>G c.(1492-1494)Tct>Gct p.S498A ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 498 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATGTGGCAAATCTTTTAGCCA 0.408000 8 470 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105410162 105410162 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr14:105410162C>T ENST00000333244.5 - 7 11745 c.11626G>A c.(11626-11628)Gtg>Atg p.V3876M AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3876 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCCTCGGGCACGTGGCCCTCC 0.592000 7 913 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578395 7578395 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr17:7578395G>A ENST00000420246.2 - 5 667 c.535C>T c.(535-537)Cat>Tat p.H179Y TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGCGCTCATGGTGGGGGCAG 0.642000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 20 213 0 0 1 0 0 CYP2A6 1548 broad.mit.edu 37 19 41351999 41351999 + Missense_Mutation SNP C C G rs58261757 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:41351999C>G ENST00000301141.5 - 6 855 c.835G>C c.(835-837)Gag>Cag p.E279Q CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753.3 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 279 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) GGGTTCTTCTCCTCCTGCAGG 0.557000 42 144 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 10 79 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53242653 53242653 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr12:53242653C>T ENST00000304620.4 - 1 125 c.62G>A c.(61-63)cGc>cAc p.R21H NM_173352.2 NP_775487.2 Q8N1N4 K2C78_HUMAN keratin 78 21 Gly-rich.|Head. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 GCCCCTTGAGCGAGCAGAACA 0.647000 13 103 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32850630 32850630 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr13:32850630C>T ENST00000380250.3 + 57 8812 c.8316C>T c.(8314-8316)ctC>ctT p.L2772L FRY_ENST00000542859.1_Silent_p.L142L NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2772 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TGGACAAGCTCAAGTTCAGTG 0.393000 39 306 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10465022 10465022 + Missense_Mutation SNP T T C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr8:10465022T>C ENST00000382483.3 - 4 6809 c.6586A>G c.(6586-6588)Ata>Gta p.I2196V NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 2196 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GGGGCCTCTATACCTTCTGAC 0.612000 7 976 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120801997 120801997 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr10:120801997G>A ENST00000369144.3 - 19 3162 c.3035C>T c.(3034-3036)gCg>gTg p.A1012V EIF3A_ENST00000541549.1_Missense_Mutation_p.A978V|EIF3A_ENST00000478852.1_Intron NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 1012 25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) GTCATCATCCGCATGACGCCA 0.572000 8 727 0 0 1 0 0 ZNF606 80095 broad.mit.edu 37 19 58491598 58491598 + Missense_Mutation SNP A A C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:58491598A>C ENST00000341164.4 - 7 1070 c.450T>G c.(448-450)atT>atG p.I150M ZNF606_ENST00000536132.1_Missense_Mutation_p.I60M NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) CTTCCTCAAAAATGCTCTGTG 0.383000 46 453 0 0 1 0 0 CCDC105 126402 broad.mit.edu 37 19 15121740 15121740 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:15121740C>T ENST00000292574.3 + 1 185 c.103C>T c.(103-105)Ctg>Ttg p.L35L NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 35 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 CGCGCACATTCTGACCGATCG 0.706000 3 38 0 0 1 0 0 EVC 2121 broad.mit.edu 37 4 5755572 5755572 + Missense_Mutation SNP C C T rs146028983 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr4:5755572C>T ENST00000382674.2 + 10 1560 c.1376C>T c.(1375-1377)aCg>aTg p.T459M EVC_ENST00000264956.6_Missense_Mutation_p.T459M|EVC_ENST00000509451.1_Missense_Mutation_p.T459M P57679 EVC_HUMAN Ellis van Creveld syndrome 459 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) GTGGAGGGAACGGCAAAACTC 0.567000 52 265 0 0 1 0 0 FADS3 3995 broad.mit.edu 37 11 61645989 61645989 + Missense_Mutation SNP C C T rs144099007 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr11:61645989C>T ENST00000540820.1 - 5 814 c.742G>A c.(742-744)Gtc>Atc p.V248I FADS3_ENST00000525588.1_Missense_Mutation_p.V220I|FADS3_ENST00000527697.1_Missense_Mutation_p.V124I|FADS3_ENST00000278829.2_Missense_Mutation_p.V248I Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 248 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CCCACCTCGACGGATGACTCC 0.647000 61 380 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105420979 105420979 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr3:105420979G>A ENST00000264122.4 - 12 2239 c.1918C>T c.(1918-1920)Cgg>Tgg p.R640W CBLB_ENST00000403724.1_Missense_Mutation_p.R640W|CBLB_ENST00000405772.1_Missense_Mutation_p.R640W|CBLB_ENST00000394027.3_Missense_Mutation_p.R662W NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 640 Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 CTGTGTTTCCGCATAAGCACT 0.473000 Mis S AML 6 501 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38119801 38119801 + Missense_Mutation SNP A A G rs71317064 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr22:38119801A>G ENST00000406386.3 + 7 1493 c.1238A>G c.(1237-1239)aAa>aGa p.K413R RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 413 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.K413R(2) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GACAATCCCAAAGCCTCCAGA 0.582000 5 399 0 0 1 0 0 EID2B 126272 broad.mit.edu 37 19 40023035 40023035 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:40023035G>A ENST00000326282.4 - 1 459 c.408C>T c.(406-408)ccC>ccT p.P136P EID2B_ENST00000601837.1_Intron NM_152361.1 NP_689574.1 Q96D98 EID2B_HUMAN EP300 interacting inhibitor of differentiation 2B 136 cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus endometrium(1)|lung(1)|urinary_tract(1) 3 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCATCTGCGGGGGATCCGCGT 0.597000 64 621 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35771762 35771762 + Missense_Mutation SNP C C A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:35771762C>A ENST00000440995.2 + 27 3838 c.3838C>A c.(3838-3840)Cca>Aca p.P1280T SPEF2_ENST00000356031.3_Missense_Mutation_p.P1285T|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 1285 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGAAAACCAGCCAGCAGACCC 0.383000 20 134 2.37509e-13 2.46586e-13 1 1 0 ZNF438 220929 broad.mit.edu 37 10 31137813 31137813 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr10:31137813G>A ENST00000538351.1 - 7 2128 c.1374C>T c.(1372-1374)caC>caT p.H458H ZNF438_ENST00000361310.3_Silent_p.H507H|ZNF438_ENST00000436087.2_Silent_p.H507H|ZNF438_ENST00000442986.1_Silent_p.H507H|ZNF438_ENST00000452305.1_Silent_p.H497H|ZNF438_ENST00000413025.1_Silent_p.H507H|ZNF438_ENST00000444692.2_Silent_p.H497H|ZNF438_ENST00000375311.1_Silent_p.H71H|ZNF438_ENST00000331737.6_Silent_p.H497H NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) CGTGACATCTGTGCCAAGGCT 0.483000 9 786 0 0 1 0 0 KLRC3 3823 broad.mit.edu 37 12 10568367 10568367 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr12:10568367C>T ENST00000396439.2 - 6 658 c.614G>A c.(613-615)cGt>cAt p.R205H NKG2-E_ENST00000539033.1_Missense_Mutation_p.R205H|KLRC3_ENST00000381904.2_Missense_Mutation_p.R205H|KLRC3_ENST00000381903.2_Missense_Mutation_p.R205H NM_002261.2 NP_002252.2 killer cell lectin-like receptor subfamily C, member 3 large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 TGCACAGTTACGTTCAGCATG 0.368000 29 210 0 0 1 0 0 GLO1 2739 broad.mit.edu 37 6 38650584 38650584 + Splice_Site SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr6:38650584C>T ENST00000373365.4 - 4 462 c.376_splice c.e4+1 p.G126_splice GLO1_ENST00000470973.1_5'UTR NM_006708.2 NP_006699.2 Q04760 LGUL_HUMAN glyoxalase I 126 anti-apoptosis|carbohydrate metabolic process cytoplasm lactoylglutathione lyase activity|metal ion binding lung(2)|ovary(2)|prostate(1)|urinary_tract(1) 6 Glutathione(DB00143) GCAAACTTACCGAATCCTCGA 0.338000 8 247 0 0 1 0 0 TEX101 83639 broad.mit.edu 37 19 43922079 43922079 + Silent SNP G G T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:43922079G>T ENST00000602198.1 + 7 937 c.495G>T c.(493-495)ggG>ggT p.G165G TEX101_ENST00000253435.7_Silent_p.G165G|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000598265.1_Silent_p.G147G NM_031451.4 NP_113639.4 Q9BY14 TX101_HUMAN testis expressed 101 147 anchored to membrane|plasma membrane p.G165G(1) large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) TGGCTTTGGGGACCTGTTTCA 0.493000 7 722 0.335167 0.335167 1 1 0 ZSCAN32 54925 broad.mit.edu 37 16 3434741 3434741 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr16:3434741G>A ENST00000396852.4 - 6 1259 c.952C>T c.(952-954)Cgc>Tgc p.R318C ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R106C|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R29C|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R318C|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R106C|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R318C|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R29C|LA16c-306E5.2_ENST00000575785.1_RNA zinc finger and SCAN domain containing 32 CTCACTTTGCGGTAACTCAAC 0.542000 6 866 0 0 1 0 0 VPS36 51028 broad.mit.edu 37 13 53013235 53013235 + Missense_Mutation SNP C C G TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr13:53013235C>G ENST00000378060.4 - 3 261 c.234G>C c.(232-234)aaG>aaC p.K78N VPS36_ENST00000480923.1_5'UTR NM_016075.2 NP_057159.2 Q86VN1 VPS36_HUMAN vacuolar protein sorting 36 homolog (S. cerevisiae) 78 GLUE N-terminal. cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|late endosome|membrane|nucleus lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.14e-08) AGACTTACCTCTTCCCAATTC 0.408000 33 214 0 0 1 0 0 CCT6P3 0 broad.mit.edu 37 7 64528850 64528850 + RNA SNP T T G rs2949472 by1000genomes TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:64528850T>G ENST00000426828.1 + 0 638 NR_033416.1 GAATTCTGGCTTTTTTTACAA 0.284000 6 84 0 0 1 0 0 ODF2 4957 broad.mit.edu 37 9 131246280 131246280 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr9:131246280G>A ENST00000303890.5 + 13 1564 c.979G>A c.(979-981)Gca>Aca p.A327T ODF2_ENST00000372796.4_Missense_Mutation_p.A351T|ODF2_ENST00000351030.3_Missense_Mutation_p.A346T|ODF2_ENST00000372807.5_Missense_Mutation_p.A346T|ODF2_ENST00000393533.2_Missense_Mutation_p.A351T|ODF2_ENST00000372791.3_Missense_Mutation_p.A332T|ODF2_ENST00000444119.2_Missense_Mutation_p.A327T|ODF2_ENST00000448249.3_Missense_Mutation_p.A270T|ODF2_ENST00000434106.2_Missense_Mutation_p.A351T|ODF2_ENST00000546203.1_Missense_Mutation_p.A332T|ODF2_ENST00000372814.3_Missense_Mutation_p.A395T NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 351 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity p.A327T(1)|p.A351T(1)|p.A395T(1) autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 GCATTTGCAGGCACAGCTTCG 0.532000 5 365 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156939813 156939813 + Missense_Mutation SNP T T C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:156939813T>C ENST00000368194.3 - 9 1764 c.725A>G c.(724-726)gAc>gGc p.D242G ARHGEF11_ENST00000361409.2_Missense_Mutation_p.D202G NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 202 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGGCTGGTGTCACCATATAG 0.507000 35 350 0 0 1 0 0 UBA2 10054 broad.mit.edu 37 19 34922781 34922781 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:34922781G>A ENST00000246548.4 + 3 308 c.238G>A c.(238-240)Gta>Ata p.V80I UBA2_ENST00000439527.2_5'UTR NM_005499.2 NP_005490.1 Q9UBT2 SAE2_HUMAN ubiquitin-like modifier activating enzyme 2 80 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 20 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) CAAGGAAAGTGTACTGCAGTT 0.368000 77 452 0 0 1 0 0 OPA1 4976 broad.mit.edu 37 3 193374974 193374974 + Missense_Mutation SNP G G C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr3:193374974G>C ENST00000361510.2 + 23 2518 c.2284G>C c.(2284-2286)Gaa>Caa p.E762Q OPA1_ENST00000361828.2_Missense_Mutation_p.E725Q|OPA1_ENST00000361908.3_Missense_Mutation_p.E744Q|OPA1_ENST00000392438.3_Missense_Mutation_p.E707Q|OPA1_ENST00000361150.2_Missense_Mutation_p.E708Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E726Q NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 707 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) TGTTAAGGAAGAAAGTATTAA 0.383000 60 477 0 0 1 0 0 PCDHA11 0 broad.mit.edu 37 5 140248986 140248986 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:140248986G>A ENST00000398640.2 + 1 298 c.298G>A c.(298-300)Gcg>Acg p.A100T PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGCAGAGCGCGGAGTGCAG 0.562000 127 1017 0 0 1 0 0 MB21D2 151963 broad.mit.edu 37 3 192517236 192517236 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr3:192517236G>A ENST00000392452.2 - 2 735 c.415C>T c.(415-417)Cgc>Tgc p.R139C NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 139 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 GCTGAGTGGCGCATGTCGAGT 0.507000 5 254 0 0 1 0 0 PCDHA6 0 broad.mit.edu 37 5 140209287 140209287 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:140209287G>A ENST00000529310.1 + 1 1725 c.1611G>A c.(1609-1611)gcG>gcA p.A537A PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGTGAGCGCGCGCGACGCGG 0.682000 86 559 0 0 1 0 0 RDH5 5959 broad.mit.edu 37 12 56118220 56118220 + Missense_Mutation SNP C C A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr12:56118220C>A ENST00000257895.5 + 5 1000 c.848C>A c.(847-849)cCa>cAa p.P283Q RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Missense_Mutation_p.P283Q|RDH5_ENST00000547072.1_Missense_Mutation_p.P186Q NM_001199771.1|NM_002905.3 NP_001186700.1|NP_002896.2 Q92781 RDH1_HUMAN retinol dehydrogenase 5 (11-cis/9-cis) 283 response to stimulus|visual perception membrane binding|retinol dehydrogenase activity p.Y281fs*>29(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1) 12 NADH(DB00157)|Vitamin A(DB00162) CGCTACAGCCCAGGTTGGGAT 0.632000 OREG0021908 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 83 695 5.25376e-55 5.59714e-55 1 1 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999841 45999841 + Silent SNP A A G TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr21:45999841A>G ENST00000400372.1 - 1 640 c.615T>C c.(613-615)tgT>tgC p.C205C TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 205 22 X 5 AA repeats of C-C-X(3). keratin filament p.C205C(2) endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 AAGCCGGCTGACAGCTAGACT 0.632000 7 860 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 64041124 64041124 + Missense_Mutation SNP A A G TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr12:64041124A>G ENST00000324472.4 - 5 793 c.610T>C c.(610-612)Tgc>Cgc p.C204R RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 204 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) ATGAATGTGCAATACCAGGAG 0.303000 7 506 0 0 1 0 0 MYOT 9499 broad.mit.edu 37 5 137217667 137217667 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:137217667G>A ENST00000239926.4 + 6 1063 c.689G>A c.(688-690)aGa>aAa p.R230K MYOT_ENST00000515645.1_Missense_Mutation_p.R115K|MYOT_ENST00000421631.2_Missense_Mutation_p.R46K|MYOT_ENST00000509812.1_Intron|RP11-381K20.2_ENST00000514616.1_RNA NM_006790.2 NP_006781.1 Q9UBF9 MYOTI_HUMAN myotilin 230 Necessary for interaction with ACTA1.|Necessary for interaction with FLNC. muscle contraction actin cytoskeleton|sarcolemma|sarcomere actin binding|structural constituent of muscle cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TGTAGAAGTAGATCAACCTCA 0.338000 46 234 0 0 1 0 0 TOMM22 56993 broad.mit.edu 37 22 39079827 39079827 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr22:39079827C>T ENST00000216034.4 + 4 441 c.410C>T c.(409-411)tCa>tTa p.S137L NM_020243.4 NP_064628.1 Q9NS69 TOM22_HUMAN translocase of outer mitochondrial membrane 22 homolog (yeast) 137 C-tail signal; necessary for mitochondrion outer membrane localization and integration in the TOM complex (By similarity). protein import into mitochondrial outer membrane integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity|receptor activity large_intestine(1)|lung(2) 3 Melanoma(58;0.04) GCTCTACCCTCACTTCCTGGA 0.433000 30 214 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 123953690 123953690 + Nonsense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr3:123953690C>T ENST00000360013.3 + 3 284 c.157C>T c.(157-159)Cga>Tga p.R53* KALRN_ENST00000240874.3_Nonsense_Mutation_p.R53*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.R53* NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 53 CRAL-TRIO. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TCGTGATAAGCGAGGCGGACC 0.507000 9 61 0 0 1 0 0 RUNX3 864 broad.mit.edu 37 1 25229012 25229012 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:25229012C>T ENST00000399916.1 - 6 1329 c.891G>A c.(889-891)acG>acA p.T297T RUNX3_ENST00000540420.1_Silent_p.T190T|RUNX3_ENST00000308873.6_Silent_p.T283T|RUNX3_ENST00000338888.3_Silent_p.T297T NM_001031680.2 NP_001026850.1 Q13761 RUNX3_HUMAN runt-related transcription factor 3 283 Pro/Ser/Thr-rich. MP -> IS (in Ref. 2; CAA56093). cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) TGCCCGAGGGCGTGGCGCTGT 0.701000 36 326 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704341 56704341 + Silent SNP C C A rs139794340 by1000genomes TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:56704341C>A ENST00000586855.2 - 2 394 c.81G>T c.(79-81)gcG>gcT p.A27A ZSCAN5B_ENST00000358992.3_Silent_p.A27A A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 27 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TTTCTGGGGACGCCACAGACC 0.537000 5 65 0.00198382 0.00200846 1 1 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 6 448 0 0 1 0 0 DUS3L 56931 broad.mit.edu 37 19 5789413 5789413 + Missense_Mutation SNP G G C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:5789413G>C ENST00000309061.7 - 3 801 c.705C>G c.(703-705)ttC>ttG p.F235L DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Intron NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 235 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding p.F235F(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 GGCCCTGGCTGAACCGGCGCA 0.726000 6 30 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147869372 147869372 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:147869372C>T ENST00000361727.3 + 18 3328 c.2812C>T c.(2812-2814)Cgc>Tgc p.R938C CNTNAP2_ENST00000538075.1_5'UTR NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 938 Laminin G-like 3. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGGCTGCATCCGCTCCTTGAG 0.542000 HNSCC(39;0.1) 57 233 0 0 1 0 0 PCDHGA4 0 broad.mit.edu 37 5 140734960 140734960 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:140734960C>T ENST00000571252.1 + 1 193 c.193C>T c.(193-195)Cgc>Tgc p.R65C PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGGAGTCCGCATCGTCTC 0.647000 19 462 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228547344 228547344 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:228547344C>T ENST00000284548.11 + 81 18825 c.18751C>T c.(18751-18753)Cgg>Tgg p.R6251W OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3370W|OBSCN_ENST00000570156.2_Intron Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6252 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGGCCAACGACGGTCCCCCAG 0.672000 6 54 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 6 151 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr4:146059041A>G ENST00000454497.2 - 21 2828 c.2691T>C c.(2689-2691)caT>caC p.H897H OTUD4_ENST00000447906.2_Silent_p.H962H|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 5 494 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204970416 204970416 + Splice_Site SNP T T A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:204970416T>A ENST00000367172.4 + 28 3785 c.e28+2 NFASC_ENST00000360049.4_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000401399.1_Splice_Site|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000495396.1_Intron O94856 NFASC_HUMAN neurofascin axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ACATCGACAGTAAGCATTGCT 0.577000 9 70 0 0 1 0 0 CCDC15 80071 broad.mit.edu 37 11 124857652 124857652 + Silent SNP G G A rs111966038 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr11:124857652G>A ENST00000529051.1 + 8 1789 c.1530G>A c.(1528-1530)ttG>ttA p.L510L CCDC15_ENST00000344762.5_Silent_p.L510L Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 510 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) AGAATTTTTTGTCTAGAGACC 0.388000 8 740 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71455320 71455320 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr14:71455320G>A ENST00000304743.2 + 7 2794 c.2348G>A c.(2347-2349)cGt>cAt p.R783H PCNX_ENST00000238570.5_Missense_Mutation_p.R783H|PCNX_ENST00000439984.3_Intron NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 783 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TCATTTCGCCGTGAACGCAGC 0.547000 5 529 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751261 19751261 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr13:19751261C>T ENST00000400113.3 - 4 966 c.862G>A c.(862-864)Gtg>Atg p.V288M NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 288 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) ATCTCAGCCACGGACAGCTGC 0.607000 77 619 0 0 1 0 0 TRUB1 142940 broad.mit.edu 37 10 116698211 116698211 + Missense_Mutation SNP T T C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr10:116698211T>C ENST00000298746.3 + 1 260 c.199T>C c.(199-201)Tcc>Ccc p.S67P TRUB1_ENST00000485065.1_3'UTR NM_139169.4 NP_631908.1 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase family member 1 67 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) CAAGCTGCTGTCCTTGAGCGG 0.662000 8 26 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276229 186276229 + Missense_Mutation SNP A A G TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:186276229A>G ENST00000445192.2 + 7 1423 c.1378A>G c.(1378-1380)Aca>Gca p.T460A PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 460 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T460A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGGAGCCTACACCCACCAC 0.657000 8 408 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79024983 79024983 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:79024983G>A ENST00000446378.2 + 2 426 c.395G>A c.(394-396)cGg>cAg p.R132Q NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 132 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AAAAAGGTTCGGAAAAGGACT 0.408000 6 395 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150656796 150656796 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:150656796C>T ENST00000392968.2 - 1 1168 c.48G>A c.(46-48)gtG>gtA p.V16V KCNH2_ENST00000262186.5_Silent_p.V112V|KCNH2_ENST00000430723.3_Silent_p.V112V Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 112 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) TCACGGGCACCACATCCACCA 0.582000 46 201 0 0 1 0 0 PYCRL 65263 broad.mit.edu 37 8 144688047 144688047 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr8:144688047C>T ENST00000220966.6 - 6 713 c.684G>A c.(682-684)acG>acA p.T228T PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_Silent_p.T79T NM_023078.3 NP_075566.2 Q53H96 P5CR3_HUMAN pyrroline-5-carboxylate reductase-like 216 proline biosynthetic process pyrroline-5-carboxylate reductase activity central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1) 5 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GCATCTTGGCCGTCCCCTGAG 0.687000 30 209 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966623 41966623 + Missense_Mutation SNP A A C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr12:41966623A>C ENST00000298919.7 + 10 1650 c.1262A>C c.(1261-1263)cAg>cCg p.Q421P PDZRN4_ENST00000539469.2_Missense_Mutation_p.Q423P|PDZRN4_ENST00000402685.2_Missense_Mutation_p.Q681P Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 681 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CTTGAGTGTCAGAATATCATG 0.453000 32 240 0 0 1 0 0 RPL23AP53 0 broad.mit.edu 37 8 163187 163187 + RNA SNP T T C rs143599805 by1000genomes TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr8:163187T>C ENST00000606975.1 - 0 734 TGAAAAACATTATTCTTTTAT 0.294000 6 109 0 0 1 0 0 DRD2 1813 broad.mit.edu 37 11 113295218 113295218 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr11:113295218G>A ENST00000362072.3 - 2 500 c.156C>T c.(154-156)aaC>aaT p.N52N DRD2_ENST00000544518.1_Silent_p.N52N|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Silent_p.N52N|DRD2_ENST00000538967.1_Silent_p.N52N|DRD2_ENST00000355319.2_Silent_p.N52N|DRD2_ENST00000346454.3_Silent_p.N52N NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 52 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding p.N52N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) ACACCAGCACGTTGCCGAAGA 0.627000 32 283 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27458194 27458194 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr2:27458194G>A ENST00000264705.4 + 24 4030 c.3868G>A c.(3868-3870)Ggc>Agc p.G1290S CAD_ENST00000403525.1_Missense_Mutation_p.G1227S NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1290 CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GGAGGTGGCCGGCTTTGGGGA 0.567000 7 412 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38493808 38493808 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:38493808G>A ENST00000263409.4 - 14 2127 c.1965C>T c.(1963-1965)tgC>tgT p.C655C LIFR_ENST00000453190.2_Silent_p.C655C|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 655 Fibronectin type-III 5. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TGACGTAGTCGCAAGTCATGT 0.443000 T PLAG1 salivary adenoma 43 398 0 0 1 0 0 ASB4 51666 broad.mit.edu 37 7 95115286 95115286 + Translation_Start_Site SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:95115286G>A ENST00000325885.5 + 1 74 c.3G>A c.(1-3)atG>atA p.M1I ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Start_Codon_SNP_p.M1I NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 1 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) GAGGAAGGATGGACGGCACCA 0.483000 27 110 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9887074 9887074 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr18:9887074G>A ENST00000306084.6 + 2 797 c.598G>A c.(598-600)Gaa>Aaa p.E200K TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 200 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAGAAGCCATCCA 0.577000 9 695 0 0 1 0 0 CSPP1 79848 broad.mit.edu 37 8 67998296 67998296 + Missense_Mutation SNP A A T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr8:67998296A>T ENST00000262210.5 + 4 393 c.362A>T c.(361-363)cAt>cTt p.H121L CSPP1_ENST00000412460.1_5'UTR NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 121 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) CGGAAGAAACATAAATTAAAA 0.313000 74 447 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12575498 12575498 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:12575498G>A ENST00000397732.3 - 4 1409 c.1238C>T c.(1237-1239)aCt>aTt p.T413I ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 413 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T413I(2) large_intestine(3)|upper_aerodigestive_tract(3) 6 TCCAGTGTGAGTTCTTTCATG 0.418000 8 722 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40411753 40411753 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:40411753G>A ENST00000221347.6 - 7 3882 c.3875C>T c.(3874-3876)gCc>gTc p.A1292V NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1292 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CTGCAGGACGGCAAACCGATG 0.632000 6 786 0 0 1 0 0 DLGAP5 9787 broad.mit.edu 37 14 55618581 55618581 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr14:55618581C>T ENST00000247191.2 - 17 2416 c.2200G>A c.(2200-2202)Gca>Aca p.A734T DLGAP5_ENST00000395425.2_Missense_Mutation_p.A734T NM_014750.4 NP_055565.3 Q15398 DLGP5_HUMAN discs, large (Drosophila) homolog-associated protein 5 734 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 ATATCATCTGCTACTCCACCA 0.358000 24 221 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44888457 44888457 + Missense_Mutation SNP T T A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr15:44888457T>A ENST00000261866.7 - 25 4274 c.4258A>T c.(4258-4260)Agc>Tgc p.S1420C SPG11_ENST00000427534.2_Missense_Mutation_p.S1420C|SPG11_ENST00000558319.1_Missense_Mutation_p.S1420C|SPG11_ENST00000535302.2_Missense_Mutation_p.S1420C NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1420 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) ACTTGATCGCTGTCCATTTTG 0.473000 44 493 0 0 1 0 0 CCDC80 151887 broad.mit.edu 37 3 112324405 112324405 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr3:112324405C>T ENST00000206423.3 - 8 3665 c.2712G>A c.(2710-2712)gcG>gcA p.A904A CCDC80_ENST00000439685.2_Silent_p.A904A NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 904 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 ACTGCTGAATCGCCATTTCCT 0.473000 33 232 0 0 1 0 0 PCDHB6 0 broad.mit.edu 37 5 140532201 140532201 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:140532201G>A ENST00000231136.1 + 1 2363 c.2363G>A c.(2362-2364)cGg>cAg p.R788Q PCDHB6_ENST00000543635.1_Missense_Mutation_p.R652Q NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 788 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCACCTCTCGGAATAGCTTC 0.418000 21 220 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 6 201 0.0215528 0.0216858 1 1 0 FOXI1 2299 broad.mit.edu 37 5 169533031 169533031 + Missense_Mutation SNP G G C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:169533031G>C ENST00000449804.2 + 1 115 c.70G>C c.(70-72)Gag>Cag p.E24Q FOXI1_ENST00000306268.6_Missense_Mutation_p.E24Q NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 24 Pro-rich. epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CATCGGCCAGGAGCCCCCCGA 0.701000 Pendred syndrome 10 122 0 0 1 0 0 OAS2 0 broad.mit.edu 37 12 113442853 113442853 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr12:113442853G>A ENST00000392583.2 + 7 1501 c.1294G>A c.(1294-1296)Gtc>Atc p.V432I OAS2_ENST00000342315.4_Missense_Mutation_p.V432I|RP1-71H24.1_ENST00000552784.1_RNA NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 432 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GCACAAAATCGTCAAGGAAAT 0.507000 23 141 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13766211 13766211 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:13766211G>A ENST00000265104.4 - 59 10079 c.9975C>T c.(9973-9975)tgC>tgT p.C3325C DNAH5_ENST00000504001.3_Intron NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3325 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCAGCAGTACGCAATCCATGA 0.517000 Kartagener syndrome 62 382 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19498557 19498557 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr16:19498557C>T ENST00000396229.2 + 17 3231 c.2482C>T c.(2482-2484)Cgg>Tgg p.R828W TMC5_ENST00000541464.1_Missense_Mutation_p.R776W|TMC5_ENST00000219821.5_Missense_Mutation_p.R582W|TMC5_ENST00000542583.2_Missense_Mutation_p.R828W|TMC5_ENST00000381414.4_Missense_Mutation_p.R828W|TMC5_ENST00000564959.1_Missense_Mutation_p.R511W|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Missense_Mutation_p.R469W NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 828 integral to membrane p.R828W(1)|p.R582W(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CAAAGCCTGGCGGGCCTCACA 0.567000 36 223 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 9 72 2.68362e-12 2.76854e-12 1 1 0 ZNF780A 284323 broad.mit.edu 37 19 40580666 40580666 + Silent SNP T T C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:40580666T>C ENST00000450241.2 - 6 1892 c.1581A>G c.(1579-1581)gaA>gaG p.E527E AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Silent_p.E561E|ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Silent_p.E561E|ZNF780A_ENST00000594395.1_Silent_p.E562E O75290 Z780A_HUMAN zinc finger protein 780A 561 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) CTTTCCCACATTCCTTACATT 0.388000 8 2157 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119106961 119106961 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr9:119106961C>T ENST00000328252.3 + 14 4120 c.3751C>T c.(3751-3753)Cgg>Tgg p.R1251W PAPPA_ENST00000534838.1_Missense_Mutation_p.R289W NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1251 Sushi 1. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GCTCCAGATACGGCGGGATGA 0.577000 19 152 0 0 1 0 0 GBP7 388646 broad.mit.edu 37 1 89599084 89599084 + Missense_Mutation SNP G G C rs79037912 by1000genomes TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:89599084G>C ENST00000294671.2 - 10 1657 c.1519C>G c.(1519-1521)Caa>Gaa p.Q507E NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 507 integral to membrane GTP binding|GTPase activity p.Q507E(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TTCTGTTTTTGTCTTAGCAGC 0.458000 6 445 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44839199 44839199 + Splice_Site SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr20:44839199G>A ENST00000372262.3 - 6 1433 c.1032_splice c.e6-1 p.R345_splice CDH22_ENST00000537909.1_Splice_Site_p.R345_splice|CDH22_ENST00000474438.1_5'UTR NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 345 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) AAGTCCAGGCGCTGCGGGAGG 0.672000 22 157 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24366270 24366270 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr16:24366270G>A ENST00000005284.3 + 3 1614 c.412G>A c.(412-414)Gcg>Acg p.A138T NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 138 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity p.A138T(1) NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) CATTCTCAGCGCGGGCATCTT 0.572000 38 201 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141051740 141051740 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr5:141051740G>A ENST00000239440.4 - 10 1579 c.1514C>T c.(1513-1515)gCg>gTg p.A505V ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V|ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 505 Arf-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CCCACAGTCCGCACACTGCCG 0.612000 9 966 0 0 1 0 0 C13orf35 400165 broad.mit.edu 37 13 113333852 113333852 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr13:113333852G>A ENST00000356049.1 + 2 917 c.159G>A c.(157-159)ccG>ccA p.P53P NM_207440.1 NP_997323.1 Q6ZP68 CM035_HUMAN chromosome 13 open reading frame 35 53 breast(1)|lung(2)|ovary(1)|prostate(1) 5 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all cancers(43;0.201) ATGAGCCGCCGATCCGAGCTC 0.607000 6 183 0 0 1 0 0 URI1 8725 broad.mit.edu 37 19 30500170 30500170 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:30500170C>T ENST00000392271.1 + 8 1242 c.717C>T c.(715-717)gaC>gaT p.D239D URI1_ENST00000542441.2_Silent_p.D315D|URI1_ENST00000312051.6_Silent_p.D275D|URI1_ENST00000360605.4_Silent_p.D297D NM_003796.3 NP_003787.2 O94763 RMP_HUMAN URI1, prefoldin-like chaperone 315 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding acattgacgacgatgatggtg 0.403000 15 322 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133353241 133353241 + Silent SNP T T C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr12:133353241T>C ENST00000204726.3 - 21 4515 c.3957A>G c.(3955-3957)gaA>gaG p.E1319E GOLGA3_ENST00000450791.2_Silent_p.E1319E|GOLGA3_ENST00000456883.2_Silent_p.E1319E NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1319 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCTGTAGCCCTTCCAGTTCCT 0.587000 5 330 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70152481 70152481 + Silent SNP A A G rs141618560 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr4:70152481A>G ENST00000335568.5 + 3 884 c.882A>G c.(880-882)gaA>gaG p.E294E UGT2B28_ENST00000511240.1_Silent_p.E294E NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 294 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.E294E(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AAATGGAGGAATTTGTACAGA 0.393000 5 315 0 0 1 0 0 MEN1 0 broad.mit.edu 37 11 64572244 64572244 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr11:64572244G>A ENST00000337652.1 - 10 1913 c.1410C>T c.(1408-1410)gcC>gcT p.A470A MEN1_ENST00000394376.1_Silent_p.A470A|MEN1_ENST00000394374.2_Silent_p.A470A|MEN1_ENST00000377313.1_Silent_p.A470A|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Silent_p.A465A|MEN1_ENST00000315422.4_Silent_p.A465A|MEN1_ENST00000377316.2_Silent_p.A410A|MEN1_ENST00000377321.1_Silent_p.A430A|MEN1_ENST00000443283.1_Silent_p.A470A|MEN1_ENST00000312049.6_Silent_p.A465A NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I 470 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 CCTCGGCCTCGGCCGCCTCGG 0.726000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated 27 174 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr22:42538870A>C ENST00000433992.1 - 0 475 CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 10 113 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42017203 42017203 + Missense_Mutation SNP T T G TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:42017203T>G ENST00000395925.3 - 12 1850 c.1766A>C c.(1765-1767)aAt>aCt p.N589T GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 589 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 ATCAGAGGCATTTGAGAAAGC 0.468000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly OREG0018015 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 182 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 16 204 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29910607 29910607 + Silent SNP G G C rs72555397 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr6:29910607G>C ENST00000396634.1 + 4 488 c.147G>C c.(145-147)gtG>gtC p.V49V HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V P30443 1A01_HUMAN major histocompatibility complex, class I, A 49 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.V49V(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCATCGCCGTGGGCTACGTGG 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 6 205 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73677492 73677492 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr2:73677492G>A ENST00000264448.6 + 8 3946 c.3835G>A c.(3835-3837)Gct>Act p.A1279T ALMS1_ENST00000377715.1_Missense_Mutation_p.A1279T|ALMS1_ENST00000409009.1_Missense_Mutation_p.A1237T NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1279 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.A1279T(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TGGCACACCAGCTGTAACCTC 0.433000 7 510 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100685064 100685064 + Missense_Mutation SNP G G C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:100685064G>C ENST00000306151.4 + 3 10431 c.10367G>C c.(10366-10368)gGa>gCa p.G3456A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3456 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACTAGTGAAGGAAGCACTCCA 0.512000 8 1413 0 0 1 0 0 PRSS38 339501 broad.mit.edu 37 1 228004950 228004950 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:228004950G>A ENST00000366757.3 + 3 376 c.352G>A c.(352-354)Gta>Ata p.V118I NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 118 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CGTAGGCCTCGTAAACCTCAG 0.552000 33 248 0 0 1 0 0 TOP2B 7155 broad.mit.edu 37 3 25641006 25641006 + Missense_Mutation SNP C C A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr3:25641006C>A ENST00000435706.2 - 35 4816 c.4615G>T c.(4615-4617)Gca>Tca p.A1539S TOP2B_ENST00000264331.4_Missense_Mutation_p.A1544S|TOP2B_ENST00000542520.1_Missense_Mutation_p.A396S|TOP2B_ENST00000540199.1_Missense_Mutation_p.A396S Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 1544 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 CTTTTCTTTGCCCCTCGGCCT 0.383000 20 88 3.5997e-14 3.78549e-14 1 1 0 ARHGAP18 93663 broad.mit.edu 37 6 129920398 129920398 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr6:129920398C>T ENST00000368149.2 - 12 1764 c.1676G>A c.(1675-1677)cGa>cAa p.R559Q NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 559 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) ATATTTTTCTCGGTCATAAGC 0.294000 16 197 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 6 566 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2054681 2054681 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr9:2054681C>T ENST00000382203.1 + 6 1340 c.1131C>T c.(1129-1131)acC>acT p.T377T SMARCA2_ENST00000382194.1_Silent_p.T377T|SMARCA2_ENST00000349721.2_Silent_p.T377T|SMARCA2_ENST00000357248.2_Silent_p.T377T P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 377 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CCAAAGCAACCGTGGAACTAA 0.403000 70 397 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042757 75042757 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr15:75042757C>T ENST00000343932.4 + 2 741 c.678C>T c.(676-678)ttC>ttT p.F226F NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 226 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding p.F226F(2) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CTCATGAGTTCGTGGAGACTG 0.572000 102 634 0 0 1 0 0 GDPGP1 390637 broad.mit.edu 37 15 90784172 90784172 + Missense_Mutation SNP C C A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr15:90784172C>A ENST00000558017.1 + 4 452 c.32C>A c.(31-33)tCc>tAc p.S11Y GDPGP1_ENST00000329600.6_Missense_Mutation_p.S11Y NM_001013657.2 NP_001013679.2 Q6ZNW5 VTC2_HUMAN GDP-D-glucose phosphorylase 1 11 glucose metabolic process cytoplasm GDP-D-glucose phosphorylase activity AACGAAACTTCCTATTTGCTG 0.453000 53 392 4.44712e-29 4.70702e-29 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274214 39274214 + Missense_Mutation SNP G G C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr17:39274214G>C ENST00000391413.2 - 1 392 c.354C>G c.(352-354)agC>agG p.S118R NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 118 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) gtctgcagcagctggacacac 0.652000 4 173 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 23 185 0 0 1 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76075521 76075521 + RNA SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr15:76075521G>A ENST00000395215.3 + 0 1161 gagaggctgcgaaagcaggaa 0.607000 9 1069 0 0 1 0 0 CFLAR 8837 broad.mit.edu 37 2 201994665 201994665 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr2:201994665G>A ENST00000395148.2 + 2 289 c.77G>A c.(76-78)cGg>cAg p.R26Q CFLAR_ENST00000457277.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000423241.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000355558.4_Missense_Mutation_p.R26Q|CFLAR_ENST00000440180.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000309955.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000340870.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000342795.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000341222.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000341582.6_Missense_Mutation_p.R26Q O15519 CFLAR_HUMAN CASP8 and FADD-like apoptosis regulator 26 DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition. anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 TTTTTGTGCCGGGATGTTGCT 0.478000 6 714 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23239043 23239043 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:23239043G>A ENST00000400191.3 + 15 2821 c.2803G>A c.(2803-2805)Gcc>Acc p.A935T EPHB2_ENST00000374627.1_Missense_Mutation_p.A930T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A936T|EPHB2_ENST00000374630.3_Missense_Mutation_p.A935T NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 935 SAM. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GGAGAGCTTCGCCAATGCCGG 0.592000 30 259 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 5 60 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285788 16285788 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr17:16285788C>T ENST00000302182.3 + 2 959 c.567C>T c.(565-567)ccC>ccT p.P189P UBB_ENST00000395837.1_Silent_p.P189P|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000578649.1_3'UTR|RP11-138I1.4_ENST00000583934.1_RNA NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 189 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.P189P(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCCCCCGACCAGC 0.552000 5 274 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78380090 78380090 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr11:78380090C>T ENST00000278550.7 - 32 7762 c.7300G>A c.(7300-7302)Gag>Aag p.E2434K NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TTCCACAGCTCGTGGTCTGGG 0.517000 13 160 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 11 293 0 0 1 0 0 NME9 347736 broad.mit.edu 37 3 138022470 138022470 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr3:138022470G>A ENST00000383180.2 - 11 861 c.624C>T c.(622-624)taC>taT p.Y208Y NME9_ENST00000341790.5_Silent_p.Y206Y|NME9_ENST00000317876.4_Silent_p.Y208Y|NME9_ENST00000536478.1_Silent_p.Y208Y|NME9_ENST00000484930.1_Silent_p.Y206Y|NME9_ENST00000333911.3_Silent_p.Y269Y NM_178130.2 NP_835231.1 Q86XW9 TXND6_HUMAN NME/NM23 family member 9 269 NDK. cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process cytoplasm|cytoskeleton ATP binding|nucleoside diphosphate kinase activity p.Y208Y(1) TTTCTGTGCCGTACTGAGCTC 0.438000 5 208 0 0 1 0 0 FGF13 2258 broad.mit.edu 37 X 137715118 137715118 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chrX:137715118C>T ENST00000315930.6 - 5 1292 c.631G>A c.(631-633)Gat>Aat p.D211N FGF13_ENST00000305414.4_Missense_Mutation_p.D158N|FGF13_ENST00000541469.1_Missense_Mutation_p.D165N|FGF13_ENST00000441825.2_Missense_Mutation_p.D192N|FGF13_ENST00000370603.3_Missense_Mutation_p.D221N NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 211 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) TCCGTGAGATCGTGCAGTGAT 0.483000 48 174 0 0 1 0 0 SURF2 6835 broad.mit.edu 37 9 136227975 136227975 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr9:136227975G>A ENST00000371964.4 + 6 772 c.731G>A c.(730-732)cGc>cAc p.R244H NM_017503.3 NP_059973.3 Q15527 SURF2_HUMAN surfeit 2 244 protein binding breast(1)|large_intestine(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05) AGTCATCACCGCAAACCCAAG 0.463000 6 930 0 0 1 0 0 TUBB8 347688 broad.mit.edu 37 10 93797 93797 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr10:93797C>T ENST00000447903.2 - 4 634 c.319G>A c.(319-321)Gtg>Atg p.V107M TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.V179M|TUBB8_ENST00000413237.3_5'UTR Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 179 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) GGCTCCACCACGGTGTCCGAC 0.522000 5 504 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207640107 207640107 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:207640107G>A ENST00000367057.3 + 2 484 c.295G>A c.(295-297)Gga>Aga p.G99R CR2_ENST00000458541.2_Missense_Mutation_p.G99R|CR2_ENST00000367059.3_Missense_Mutation_p.G99R|CR2_ENST00000367058.3_Missense_Mutation_p.G99R NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 99 Sushi 2. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.G99*(1) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 AGTACCAGGAGGATACAAAAT 0.408000 47 319 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82791717 82791717 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:82791717C>T ENST00000423517.2 - 1 529 c.192G>A c.(190-192)caG>caA p.Q64Q PCLO_ENST00000333891.8_Silent_p.Q64Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 64 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGGGCAGCCCCTGCGCCCTTG 0.632000 12 51 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133353247 133353247 + Silent SNP T T C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr12:133353247T>C ENST00000204726.3 - 21 4509 c.3951A>G c.(3949-3951)gaA>gaG p.E1317E GOLGA3_ENST00000450791.2_Silent_p.E1317E|GOLGA3_ENST00000456883.2_Silent_p.E1317E NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1317 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) GCCCTTCCAGTTCCTTCCTGC 0.567000 6 347 0 0 1 0 0 OR5A1 219982 broad.mit.edu 37 11 59211157 59211157 + Silent SNP C C T rs150991894 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr11:59211157C>T ENST00000302030.2 + 1 541 c.516C>T c.(514-516)tgC>tgT p.C172C NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 172 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C172C(2) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 TTCACTTTTGCGGACCCAACA 0.547000 8 1148 0 0 1 0 0 LCN1 3933 broad.mit.edu 37 9 138413373 138413373 + Silent SNP T T C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr9:138413373T>C ENST00000263598.2 + 1 90 c.30T>C c.(28-30)ctT>ctC p.L10L LCN1_ENST00000371781.3_Silent_p.L10L NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3 NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1 P31025 LCN1_HUMAN lipocalin 1 10 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity p.L10L(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5) 13 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) CCGTCAGCCTTGGCCTCATTG 0.667000 6 150 0 0 1 0 0 GSAP 54103 broad.mit.edu 37 7 77004376 77004376 + Splice_Site SNP T T C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:77004376T>C ENST00000257626.7 - 11 862 c.785_splice c.e11+1 p.K262_splice NM_017439.3 NP_059135.2 gamma-secretase activating protein ATAACTTACTTAAATCCTGAG 0.289000 4 261 0 0 1 0 0 GOLGA6L7P 0 broad.mit.edu 37 15 29092257 29092257 + RNA SNP C C T rs75388271 by1000genomes TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr15:29092257C>T ENST00000569815.1 - 0 258 NR_047567.1 TCAGGGTTAGCGCCATGATTT 0.547000 7 140 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848876 73848876 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr8:73848876G>A ENST00000523207.1 + 3 1874 c.1286G>A c.(1285-1287)cGc>cAc p.R429H NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 429 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GAGCAGAAACGCCAAGAGAAA 0.443000 40 262 0 0 1 0 0 TYW1B 441250 broad.mit.edu 37 7 72209576 72209576 + RNA SNP C C G rs147711959 by1000genomes TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:72209576C>G ENST00000438125.1 - 0 579 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CTCGGAGCATCGACTATGACA 0.413000 4 304 0 0 1 0 0 KRTAP12-3 386683 broad.mit.edu 37 21 46078062 46078062 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr21:46078062G>A ENST00000397907.1 + 1 214 c.166G>A c.(166-168)Gtg>Atg p.V56M TSPEAR_ENST00000323084.4_Intron NM_198697.2 NP_941970.2 P60328 KR123_HUMAN keratin associated protein 12-3 56 14 X 5 AA approximate repeats. intermediate filament central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CTCCGTGTGCGTGCCCGTGAG 0.642000 53 384 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 6 168 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70841641 70841641 + Missense_Mutation SNP G G A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr16:70841641G>A ENST00000393567.2 - 86 15358 c.15208C>T c.(15208-15210)Cgg>Tgg p.R5070W NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 5070 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTCTTGGGCCGCACAGACTCT 0.517000 5 402 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 10 167 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807796 20807796 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:20807796C>T ENST00000601440.1 - 4 1033 c.887G>A c.(886-888)cGg>cAg p.R296Q CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 296 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 GGTTGAGGACCGGTTGAAGGC 0.388000 6 598 0 0 1 0 0 GBA2 57704 broad.mit.edu 37 9 35738753 35738753 + Missense_Mutation SNP C C T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr9:35738753C>T ENST00000378094.4 - 12 2456 c.1943G>A c.(1942-1944)tGt>tAt p.C648Y GBA2_ENST00000378103.3_Missense_Mutation_p.C648Y|GBA2_ENST00000545786.1_Missense_Mutation_p.C654Y|GBA2_ENST00000467252.1_5'UTR Q9HCG7 GBA2_HUMAN glucosidase, beta (bile acid) 2 648 bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3) 21 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CCTTACTAGACACACAGGCCA 0.522000 25 281 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 7 498 0 0 1 0 0 ADC 113451 broad.mit.edu 37 1 33583674 33583675 + Frame_Shift_Ins INS - - C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:33583674_33583675insC ENST00000294517.6 + 11 1788_1789 c.1201_1202insC c.(1201-1203)ccafs p.P401fs ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Frame_Shift_Ins_p.P421fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.P401fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.P421fs NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 401 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) CTTTTGGGGGACCCAGGCCTGC 0.624 11 401 --- --- --- --- C1orf94 84970 broad.mit.edu 37 1 34666398 34666398 + Frame_Shift_Del DEL A A - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:34666398delA ENST00000488417.1 + 3 1155 c.1035delA c.(1033-1035)ccfs p.P345fs C1orf94_ENST00000373374.3_Frame_Shift_Del_p.P155fs NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 155 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) CCAAGGAGCCAAAAAAGGGTC 0.572 7 414 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137698 121137699 + RNA INS - - TT rs57730437 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:121137698_121137699insTT ENST00000437515.1 - 0 329 CTACTTACATCTTTTTGTCTTT 0.441 17 150 --- --- --- --- LINGO4 339398 broad.mit.edu 37 1 151773603 151773603 + Frame_Shift_Del DEL A A - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:151773603delA ENST00000368820.3 - 2 2515 c.1578delT c.(1576-1578)ttfs p.F526fs NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 526 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TGCTATCCAGAAAAAAAGGCC 0.582 8 968 --- --- --- --- TMCO1 54499 broad.mit.edu 37 1 165712550 165712551 + Splice_Site INS - - A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:165712550_165712551insA ENST00000367881.5 - 6 752 c.e6-2 TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCATCAAATCTAAAAGAAAAAA 0.381 7 343 --- --- --- --- SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - - A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr1:183515266_183515267insA ENST00000367537.3 + 18 2680_2681 c.2485_2486insA c.(2485-2487)aaafs p.K829fs SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 846 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding p.?(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 GCAGCCTCTAGAAAAAAAAATG 0.450 10 419 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710012 38710013 + RNA INS - - AAA rs71402229 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr2:38710012_38710013insAAA ENST00000417039.1 - 0 696 CTTACTTCTTtaaaaaataaat 0.252 12 49 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61575023 61575025 + In_Frame_Del DEL TGG TGG - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr2:61575023_61575025delTGG ENST00000398571.2 - 15 2341_2343 c.2265_2267delCCA c.(2263-2268)cat>ca p.HH759del NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 759 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) gtggtggtgatggtggtggtggt 0.389 8 264 --- --- --- --- AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 10 725 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 4 8 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 12 465 --- --- --- --- LINC00698 0 broad.mit.edu 37 3 63083094 63083096 + RNA DEL CTG CTG - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr3:63083094_63083096delCTG ENST00000468072.1 + 0 125 NR_027104.1 TCCGAGCCGTCTGCTGCTGCTGC 0.562 8 557 --- --- --- --- DHX36 170506 broad.mit.edu 37 3 154032977 154032978 + Frame_Shift_Ins INS - - T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr3:154032977_154032978insT ENST00000496811.1 - 3 540_541 c.460_461insA c.(460-462)gttfs p.V154fs DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 154 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GATTCTAAACATTTTTTTTTCT 0.337 7 272 --- --- --- --- MFI2 4241 broad.mit.edu 37 3 196733535 196733536 + Frame_Shift_Ins INS - - G TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr3:196733535_196733536insG ENST00000296350.5 - 14 1935_1936 c.1822_1823insC c.(1822-1824)agcfs p.S608fs NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 608 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding p.R608*(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) CACCTCGGCTCGGGCCCCGTTG 0.624 14 176 --- --- --- --- RIOK1 83732 broad.mit.edu 37 6 7393450 7393452 + In_Frame_Del DEL GAC GAC - rs2274212 byFrequency TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr6:7393450_7393452delGAC ENST00000379834.2 + 2 697_699 c.190_192delGAC c.(190-192)del p.D69del NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 69 ATP binding|protein serine/threonine kinase activity p.D57G(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) ggagggttatgacgatgatgatg 0.433 10 319 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989414 42989419 + In_Frame_Del DEL GCCGGG GCCGGG - rs60664426 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr6:42989414_42989419delGCCGGG ENST00000244496.5 + 1 32_37 c.22_27delGCCGGG c.(22-27)del p.AG14del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 14 ribosomal small subunit biogenesis|rRNA processing nucleolus p.A8_G9delAG(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 TAACTAccgcgccggggccggggccg 0.777 7 27 --- --- --- --- MYO6 4646 broad.mit.edu 37 6 76599857 76599858 + Frame_Shift_Ins INS - - A TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr6:76599857_76599858insA ENST00000369981.3 + 26 3021_3022 c.2742_2743insA c.(2740-2745)caaaaafs p.QK914fs MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs Q9UM54 MYO6_HUMAN myosin VI 914 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding p.K917fs*10(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GTGCATTACAGAAAAAAAAACA 0.381 14 373 --- --- --- --- NEUROD6 63974 broad.mit.edu 37 7 31378634 31378635 + Frame_Shift_Ins INS - - T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:31378634_31378635insT ENST00000297142.3 - 2 570_571 c.248_249insA c.(247-249)aacfs p.N83fs NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 83 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 GCTTTGTTGTCTTTTTTTTCCT 0.520 9 1151 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38284901 38284902 + RNA DEL TA TA - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:38284901_38284902delTA ENST00000436911.2 - 0 330 tgtgtgtgtgtatgtgtgtgtg 0.376 9 511 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150824 65150825 + RNA INS - - G TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:65150824_65150825insG ENST00000430126.2 + 0 757 TCACCCCCCCCCCCGTTAAAAT 0.470 8 55 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72683455 72683456 + RNA INS - - T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:72683455_72683456insT ENST00000425256.1 - 0 120 NR_002164.1 CGTTCTACCAgtttttttttgt 0.441 8 447 --- --- --- --- PHTF2 57157 broad.mit.edu 37 7 77569581 77569581 + Frame_Shift_Del DEL T T - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:77569581delT ENST00000416283.2 + 12 1726 c.1600delT c.(1600-1602)ttfs p.F535fs PHTF2_ENST00000422959.2_Frame_Shift_Del_p.F535fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.F531fs|PHTF2_ENST00000248550.7_Frame_Shift_Del_p.F569fs|PHTF2_ENST00000275575.7_Frame_Shift_Del_p.F531fs NM_001127357.1|NM_020432.4 NP_001120829.1|NP_065165.3 Q8N3S3 PHTF2_HUMAN putative homeodomain transcription factor 2 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent endoplasmic reticulum|nucleus DNA binding endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 19 GTGGATTTTCTTTTTTTTGCT 0.303 7 654 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099805 142099806 + RNA DEL AC AC - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr7:142099805_142099806delAC ENST00000390359.3 - 0 88 TAGTCATcatacacacacacac 0.441 11 232 --- --- --- --- ESCO2 157570 broad.mit.edu 37 8 27634576 27634577 + Frame_Shift_Ins INS - - A rs80359854 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr8:27634576_27634577insA ENST00000305188.8 + 3 989_990 c.751_752insA c.(751-753)aaafs p.K251fs ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 251 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) GACTGTCAGTGAAAAAAAAACT 0.396 SC Phocomelia syndrome 10 291 --- --- --- --- TSNARE1 203062 broad.mit.edu 37 8 143310866 143310868 + In_Frame_Del DEL GAT GAT - rs142964918 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr8:143310866_143310868delGAT ENST00000524325.1 - 13 1691_1693 c.1516_1518delATC c.(1516-1518)del p.I506del TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del|TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 507 Poly-Ile. vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGAGGTGGCGATGATGATGATG 0.512 7 314 --- --- --- --- KIF24 347240 broad.mit.edu 37 9 34257622 34257623 + Frame_Shift_Ins INS - - T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr9:34257622_34257623insT ENST00000379166.2 - 11 2101_2102 c.1982_1983insA c.(1981-1983)accfs p.T661fs KIF24_ENST00000379174.3_Frame_Shift_Ins_p.T527fs|KIF24_ENST00000345050.2_Frame_Shift_Ins_p.T527fs|KIF24_ENST00000402558.2_Frame_Shift_Ins_p.T661fs NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 661 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.K143fs*34(1)|p.K661fs*34(1) breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) ACTCTTCTGGCTTTTTTTTGGC 0.530 7 351 --- --- --- --- PPP1R26 9858 broad.mit.edu 37 9 138377977 138377977 + Frame_Shift_Del DEL T T - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr9:138377977delT ENST00000356818.2 + 4 2170 c.1621delT c.(1621-1623)ttfs p.F541fs PPP1R26_ENST00000605286.1_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000604351.1_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000401470.3_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000605660.1_Frame_Shift_Del_p.F541fs|PPP1R26_ENST00000602993.1_Intron NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 541 nucleolus protein binding AATCCGGACATTTTTGGCCCT 0.617 7 848 --- --- --- --- ERCC6 2074 broad.mit.edu 37 10 50732139 50732141 + In_Frame_Del DEL CCT CCT - rs4253047 byFrequency TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr10:50732139_50732141delCCT ENST00000355832.5 - 5 1413_1415 c.1335_1337delAGG c.(1333-1338)ggt>gg p.GG445del ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.GG445del|PGBD3_ENST00000603152.1_In_Frame_Del_p.GG445del|PGBD3_ENST00000374127.3_5'UTR|ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.GG445del NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 445 Gly-rich. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CACTTTCCGACCTCCTCCTCCTC 0.458 Direct reversal of damage;Nucleotide excision repair (NER) 7 572 --- --- --- --- A1CF 29974 broad.mit.edu 37 10 52569667 52569669 + In_Frame_Del DEL AGC AGC - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr10:52569667_52569669delAGC ENST00000395489.2 - 14 1993_1995 c.1597_1599delGCT c.(1597-1599)del p.A533del A1CF_ENST00000373993.1_In_Frame_Del_p.A540del|A1CF_ENST00000395495.1_In_Frame_Del_p.A485del|A1CF_ENST00000374001.1_In_Frame_Del_p.A532del|A1CF_ENST00000282641.2_In_Frame_Del_p.A540del|A1CF_ENST00000373995.3_In_Frame_Del_p.A540del|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_In_Frame_Del_p.A532del NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 540 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GGAAagcagtagcagcagcagca 0.512 7 357 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 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) CACAGTGGGGCTCCTCCTCCTCC 0.635 16 923 --- --- --- --- SLIT1 6585 broad.mit.edu 37 10 98799862 98799862 + Frame_Shift_Del DEL C C - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr10:98799862delC ENST00000266058.4 - 21 2425 c.2180delG c.(2179-2181)gcfs p.G727fs ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Frame_Shift_Del_p.G727fs NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 727 LRRNT 4. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding p.G727fs*65(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GGGCAGGCAGCCCCCCTCCTC 0.697 13 66 --- --- --- --- INA 9118 broad.mit.edu 37 10 105048271 105048273 + In_Frame_Del DEL GAG GAG - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr10:105048271_105048273delGAG ENST00000369849.4 + 3 1394_1396 c.1345_1347delGAG c.(1345-1347)del p.E454del NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 454 Poly-Glu.|Tail. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton p.E449_E450delEE(1) breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) ACTTAAGAAAGAGGAGGAGGAGG 0.458 7 446 --- --- --- --- SLK 9748 broad.mit.edu 37 10 105727547 105727549 + In_Frame_Del DEL AGA AGA - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr10:105727547_105727549delAGA ENST00000369755.3 + 1 589_591 c.44_46delAGA c.(43-48)gag>g p.EK15del SLK_ENST00000335753.4_In_Frame_Del_p.EK15del NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 15 apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TTGGGGAGCGAGAAGAAGAAGAA 0.448 7 446 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61183765 61183767 + In_Frame_Del DEL AGG AGG - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr11:61183765_61183767delAGG ENST00000340437.4 - 6 984_986 c.904_906delCCT c.(904-906)del p.P302del CPSF7_ENST00000394888.4_In_Frame_Del_p.P259del|CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del|CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 259 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 AGTGGATACCAGGAGGAGGAGGA 0.611 9 219 --- --- --- --- CORO1B 57175 broad.mit.edu 37 11 67209168 67209168 + Frame_Shift_Del DEL G G - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr11:67209168delG ENST00000545016.1 - 4 575 c.490delC c.(490-492)acfs p.H164fs CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000453768.2_Intron Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 0 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) AGGGGTCCGTGGGGGGGGGGA 0.657 7 62 --- --- --- --- OR6C65 403282 broad.mit.edu 37 12 55794610 55794610 + Frame_Shift_Del DEL T T - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr12:55794610delT ENST00000379665.2 + 1 397 c.298delT c.(298-300)ttfs p.F101fs NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L102fs*1(1) cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 GGCCCAAGTATTTTTTTTAAT 0.358 9 602 --- --- --- --- XPOT 11260 broad.mit.edu 37 12 64812755 64812755 + Frame_Shift_Del DEL T T - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr12:64812755delT ENST00000332707.5 + 6 899 c.370delT c.(370-372)ttfs p.F126fs NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 126 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.F126fs*6(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) GTGGCCCAAGTTTTTTTTTGA 0.443 8 495 --- --- --- --- POP5 51367 broad.mit.edu 37 12 121017154 121017156 + In_Frame_Del DEL CTC CTC - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr12:121017154_121017156delCTC ENST00000341039.2 - 4 323_325 c.307_309delGAG c.(307-309)del p.E103del POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del NM_198202.1 NP_937845.1 Q969H6 POP5_HUMAN processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 153 tRNA processing protein binding|ribonuclease P activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 all_neural(191;0.077)|Medulloblastoma(191;0.0922) CCTCACCTGACTCCTCCTCCTCC 0.517 7 646 --- --- --- --- SUPT20H 55578 broad.mit.edu 37 13 37598272 37598274 + In_Frame_Del DEL AGG AGG - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr13:37598272_37598274delAGG ENST00000360252.4 - 19 1739_1741 c.1492_1494delCCT c.(1492-1494)del p.P498del SUPT20H_ENST00000475892.1_In_Frame_Del_p.P497del|SUPT20H_ENST00000350612.6_In_Frame_Del_p.P497del|SUPT20H_ENST00000356185.3_In_Frame_Del_p.P498del|SUPT20H_ENST00000464744.1_In_Frame_Del_p.P498del|SUPT20H_ENST00000542180.1_In_Frame_Del_p.P461del NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) GCTTAGAAGAAGGAGGAGGAGTT 0.389 26 268 --- --- --- --- RNASEH2B 79621 broad.mit.edu 37 13 51530586 51530587 + Frame_Shift_Ins INS - - A rs75254367 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr13:51530586_51530587insA ENST00000336617.3 + 11 1314_1315 c.915_916insA c.(913-918)aaaaaafs p.KK305fs RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR NM_024570.3 NP_078846.2 Q5TBB1 RNH2B_HUMAN ribonuclease H2, subunit B 305 RNA catabolic process nucleus|ribonuclease H2 complex endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;9e-08) GGGTAAAAAATAAAAAAAAAAT 0.297 9 220 --- --- --- --- IRF9 10379 broad.mit.edu 37 14 24633132 24633134 + In_Frame_Del DEL AGC AGC - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr14:24633132_24633134delAGC ENST00000396864.3 + 5 828_830 c.541_543delAGC c.(541-543)del p.S187del IRF9_ENST00000557894.1_In_Frame_Del_p.S85del|RP11-468E2.4_ENST00000558468.1_3'UTR NM_006084.4 NP_006075.3 Q00978 IRF9_HUMAN interferon regulatory factor 9 187 Poly-Ser. interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) AGACATTGGGagcagcagcagca 0.567 8 280 --- --- --- --- DAAM1 23002 broad.mit.edu 37 14 59787235 59787237 + In_Frame_Del DEL GAA GAA - rs141935137 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr14:59787235_59787237delGAA ENST00000395125.1 + 4 396_398 c.373_375delGAA c.(373-375)del p.E129del DAAM1_ENST00000360909.3_In_Frame_Del_p.E129del|DAAM1_ENST00000351081.1_In_Frame_Del_p.E129del NM_014992.2 NP_055807.1 Q9Y4D1 DAAM1_HUMAN dishevelled associated activator of morphogenesis 1 129 GBD/FH3. actin cytoskeleton organization cytoplasm|plasma membrane actin binding|Rho GTPase binding breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.165) TTTAGAGAAGGAAGAAGAAGAAG 0.325 9 400 --- --- --- --- DDX24 57062 broad.mit.edu 37 14 94545821 94545823 + In_Frame_Del DEL CCT CCT - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr14:94545821_94545823delCCT ENST00000330836.5 - 2 397_399 c.266_268delAGG c.(265-270)gga>g p.EG89del DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 89 Poly-Glu. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CTAGACTTTCCCTCCTCCTCCTC 0.443 8 730 --- --- --- --- ATG2B 55102 broad.mit.edu 37 14 96783571 96783572 + Frame_Shift_Ins INS - - T TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr14:96783571_96783572insT ENST00000359933.4 - 20 4013_4014 c.3120_3121insA c.(3118-3123)aatagafs p.NR1040fs NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1040 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGAGAGTCTAATTTTTTTTTCC 0.371 8 374 --- --- --- --- RTL1 388015 broad.mit.edu 37 14 101350670 101350671 + In_Frame_Ins INS - - TCT rs55755518 by1000genomes TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr14:101350670_101350671insTCT ENST00000534062.1 - 1 513_514 c.455_456insAGA c.(454-456)gca>gAGAca p.152_152A>ET NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 152 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 TCTGGTTTTGCTCTTGAGGAGT 0.520 9 9 --- --- --- --- IGHV3-48 0 broad.mit.edu 37 14 106993939 106993941 + RNA DEL TAC TAC - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr14:106993939_106993941delTAC ENST00000390624.2 - 0 302_304 TAGTATATGGTACTACTACTACT 0.502 12 1716 --- --- --- --- NIPA2 81614 broad.mit.edu 37 15 23021238 23021239 + Frame_Shift_Ins INS - - T rs145147241 byFrequency TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr15:23021238_23021239insT ENST00000337451.3 - 4 710_711 c.98_99insA c.(97-99)aggfs p.R33fs NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.R33fs NM_030922.6 NP_112184.4 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 2 33 early endosome|integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) GAAGGAGGCCCTTTTTTTTCAA 0.450 8 564 --- --- --- --- SRP14 6727 broad.mit.edu 37 15 40328597 40328599 + In_Frame_Del DEL TGC TGC - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr15:40328597_40328599delTGC ENST00000267884.6 - 5 417_419 c.346_348delGCA c.(346-348)del p.A116del SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 116 Ala/Thr-rich. negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) ctgcggcaggtgctgctgctgct 0.478 8 268 --- --- --- --- C15orf52 388115 broad.mit.edu 37 15 40631781 40631782 + Frame_Shift_Ins INS - - C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr15:40631781_40631782insC ENST00000559313.1 - 3 309_310 c.294_295insG c.(292-297)ggtggcfs p.G99fs NM_207380.2 NP_997263.2 Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 99 p.M99fs*3(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) GTCACAGCCATCCCCCCCTGCT 0.649 7 537 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr16:30982809_30982811delTCC ENST00000262519.8 + 13 3813_3815 c.3127_3129delTCC c.(3127-3129)del p.S1058del NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1058 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CAGctcctcatcctcctcctcct 0.547 8 365 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81201441 81201441 + RNA DEL G G - rs35726804 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr16:81201441delG ENST00000525539.1 - 0 3093 PKD1L2_ENST00000533478.1_RNA NM_052892.3 NP_443124.3 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 tctgcaagatggggggggaaa 0.567 7 4 --- --- --- --- WDR81 124997 broad.mit.edu 37 17 1631341 1631343 + In_Frame_Del DEL GAG GAG - rs66598941 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr17:1631341_1631343delGAG ENST00000409644.1 + 1 3088_3090 c.3088_3090delGAG c.(3088-3090)del p.E1033del WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000309182.5_5'UTR|WDR81_ENST00000446363.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 305 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGGGGCTGCTGAGGAGGAGGAGA 0.695 11 18 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8415820 8415822 + In_Frame_Del DEL TTC TTC - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr17:8415820_8415822delTTC ENST00000360416.3 - 24 3037_3039 c.2899_2901delGAA c.(2899-2901)del p.E967del MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 936 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTTGGTTTCTTTCTTCTTCTTCT 0.350 8 338 --- --- --- --- MLLT6 4302 broad.mit.edu 37 17 36873776 36873777 + Frame_Shift_Ins INS - - C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr17:36873776_36873777insC ENST00000325718.7 + 11 1834_1835 c.1743_1744insC c.(1741-1746)ggccccfs p.GP581fs CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 581 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) GCCTCCTGGGGCCCCCAGGGAC 0.653 T MLL AL 7 332 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 7 129 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56387404 56387406 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr17:56387404_56387406delTCC ENST00000355701.3 - 21 4683_4685 c.3813_3815delGGA c.(3811-3816)gaa>ga p.EE1273del BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del|BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1273 Poly-Glu. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGctcctcttcctcctcctcct 0.586 12 374 --- --- --- --- BPTF 2186 broad.mit.edu 37 17 65940454 65940456 + In_Frame_Del DEL CAC CAC - rs143937013 TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr17:65940454_65940456delCAC ENST00000321892.4 + 22 7105_7107 c.7044_7046delCAC c.(7042-7047)agc>ag p.ST2348del BPTF_ENST00000306378.6_In_Frame_Del_p.ST2222del|BPTF_ENST00000335221.5_In_Frame_Del_p.ST2348del|BPTF_ENST00000424123.3_In_Frame_Del_p.ST2209del Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2348 Thr-rich. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) CCACAGCCAGCACCACCACCACC 0.542 7 448 --- --- --- --- HCN2 610 broad.mit.edu 37 19 615947 615949 + In_Frame_Del DEL CCG CCG - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:615947_615949delCCG ENST00000251287.2 + 8 2196_2198 c.2143_2145delCCG c.(2143-2145)del p.P721del AC005559.2_ENST00000591847.1_RNA NM_001194.3 NP_001185.3 Q9UL51 HCN2_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 2 721 Pro-rich. cell-cell signaling|muscle contraction voltage-gated potassium channel complex cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity endometrium(5)|lung(4) 9 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCCTCTTCccgccgccgccgc 0.704 8 89 --- --- --- --- ZSWIM4 65249 broad.mit.edu 37 19 13941586 13941587 + Frame_Shift_Ins INS - - C TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:13941586_13941587insC ENST00000254323.2 + 13 2881_2882 c.2692_2693insC c.(2692-2694)acgfs p.T898fs ZSWIM4_ENST00000440752.2_Frame_Shift_Ins_p.T732fs NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 898 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CCCCTTAGGGGCACGCCGGGCC 0.693 7 293 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:16640581_16640583delTGC ENST00000546361.2 - 8 1156_1158 c.1005_1007delGCA c.(1003-1008)caa>ca p.QQ339del CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 339 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ctgctgctgttgctgctgctgct 0.670 12 183 --- --- --- --- NUDT19 390916 broad.mit.edu 37 19 33200189 33200190 + Frame_Shift_Del DEL CT CT - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:33200189_33200190delCT ENST00000397061.3 + 2 813_814 c.813_814delCT c.(811-816)gcctfs p.AS271fs NM_001105570.1 NP_001099040.1 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 19 271 mitochondrion|peroxisome hydrolase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Esophageal squamous(110;0.137) CAAACTTTGCCTCTCTCTCTGA 0.450 7 941 --- --- --- --- ACTN4 81 broad.mit.edu 37 19 39207742 39207756 + In_Frame_Del DEL GGCGCACCATCCCCT GGCGCACCATCCCCT - rs112545413 byFrequency TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:39207742_39207756delGGCGCACCATCCCCT ENST00000252699.2 + 10 1005_1019 c.929_943delGGCGCACCATCCCCT c.(928-945)cgg>c p.RRTIPW310del ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_In_Frame_Del_p.RRTIPW91del NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 310 platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GAGTGGATCCGGCGCACCATCCCCTGGCTGGAGGA 0.647 11 158 --- --- --- --- DYRK1B 9149 broad.mit.edu 37 19 40316612 40316612 + Frame_Shift_Del DEL G G - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:40316612delG ENST00000593685.1 - 11 2101 c.1633delC c.(1633-1635)agfs p.Q545fs DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.Q545fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.Q505fs|DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.Q517fs Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 545 positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) TATCGGGGCTGGGGGGGTAAC 0.692 8 958 --- --- --- --- SERTAD1 29950 broad.mit.edu 37 19 40929409 40929411 + In_Frame_Del DEL CTC CTC - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr19:40929409_40929411delCTC ENST00000357949.4 - 2 201_203 c.43_45delGAG c.(43-45)del p.E15del NM_013376.3 NP_037508.2 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 15 positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(2)|lung(1)|prostate(1)|skin(1) 5 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGGTTCCTTCTCCTCCTCCTCC 0.557 8 889 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CATCATTtgttgctgctgctgct 0.576 11 431 --- --- --- --- YTHDF1 54915 broad.mit.edu 37 20 61833650 61833652 + In_Frame_Del DEL CCT CCT - TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr20:61833650_61833652delCCT ENST00000370339.3 - 4 1981_1983 c.1640_1642delAGG c.(1639-1644)gtg>g p.EV547del YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 547 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TTGCGCACCACCTCCTCCTCCTC 0.557 7 562 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11038813 11038814 + RNA INS - - T rs144107885 by1000genomes TCGA-IB-AAUQ-01A-22D-A40W-08 TCGA-IB-AAUQ-10A-01D-A40W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 837600db-3ffb-46b8-81d7-5492b8707ab4 de829b0b-8a4b-4798-8703-5098c0a43740 g.chr21:11038813_11038814insT ENST00000470054.1 - 0 1389_1390 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGACTGAGATGTAAGTTGTTGG 0.446 9 1551 --- --- --- ---