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 PRMT8 56341 broad.mit.edu 37 12 3649787 3649787 + Missense_Mutation SNP T T C TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr12:3649787T>C ENST00000382622.3 + 2 481 c.91T>C c.(91-93)Tcc>Ccc p.S31P PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 31 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CAGCCCCCCCTCCCAGCCCCC 0.652000 26 546 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37618297 37618297 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr21:37618297G>A ENST00000399151.3 + 19 4104 c.4019G>A c.(4018-4020)gGc>gAc p.G1340D NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1340 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GACATTCTCGGCAACCGGGAC 0.552000 6 689 0 0 1 0 0 FBXO22 26263 broad.mit.edu 37 15 76196872 76196872 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr15:76196872C>T ENST00000308275.3 + 2 286 c.181C>T c.(181-183)Cgg>Tgg p.R61W FBXO22_ENST00000540507.1_Intron|FBXO22_ENST00000565131.1_3'UTR|FBXO22_ENST00000453211.2_Missense_Mutation_p.R61W NM_147188.2 NP_671717.1 Q8NEZ5 FBX22_HUMAN F-box protein 22 61 F-box. ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 CAGAGTATTGCGGACCCATCG 0.612000 5 667 0 0 1 0 0 KRT13 3860 broad.mit.edu 37 17 39661661 39661661 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:39661661C>T ENST00000246635.3 - 1 188 c.142G>A c.(142-144)Ggc>Agc p.G48S KRT13_ENST00000336861.3_Missense_Mutation_p.G48S|KRT13_ENST00000587544.1_Missense_Mutation_p.G48S NM_153490.2 NP_705694.2 P13646 K1C13_HUMAN keratin 13 48 Gly-rich.|Head. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) cAGCTCACGCCGCCTCCATAG 0.622000 9 356 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7810228 7810228 + Silent SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:7810228G>A ENST00000380358.4 + 30 4723 c.4722G>A c.(4720-4722)ccG>ccA p.P1574P CHD3_ENST00000358181.4_Silent_p.P1515P|CHD3_ENST00000330494.7_Silent_p.P1515P NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1515 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding p.P1515P(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) GGTCAATGCCGGAACTGATGC 0.587000 6 684 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248524937 248524937 + Missense_Mutation SNP A A T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:248524937A>T ENST00000366475.1 + 1 55 c.55A>T c.(55-57)Atg>Ttg p.M19L NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTTCATCCTGATGGGACTCTT 0.488000 6 382 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578550 7578550 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:7578550G>A ENST00000420246.2 - 5 512 c.380C>T c.(379-381)tCc>tTc p.S127F TP53_ENST00000269305.4_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000455263.2_Missense_Mutation_p.S127F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 127 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GAGGGCAGGGGAGTACTGTAG 0.552000 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) 58 104 0 0 1 0 0 SDHAP3 0 broad.mit.edu 37 5 1593264 1593264 + RNA SNP C C T rs111700178 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr5:1593264C>T ENST00000436493.2 - 0 361 AGGGCACATGCCTGACCAAAG 0.557000 23 193 0 0 1 0 0 RPL28 6158 broad.mit.edu 37 19 55899328 55899328 + Missense_Mutation SNP G G A rs34259396 byFrequency TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:55899328G>A ENST00000344063.2 + 4 865 c.236G>A c.(235-237)cGg>cAg p.R79Q RPL28_ENST00000558131.1_Missense_Mutation_p.G73R|RPL28_ENST00000560055.1_Missense_Mutation_p.R79Q|RPL28_ENST00000560583.1_Missense_Mutation_p.R79Q|RPL28_ENST00000558815.1_Missense_Mutation_p.R79Q|RPL28_ENST00000458349.2_Missense_Mutation_p.R79Q|RPL28_ENST00000559463.1_Missense_Mutation_p.R79Q P46779 RL28_HUMAN ribosomal protein L28 79 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome p.R79L(2) endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 Breast(117;0.191) Renal(1328;0.245) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) TCCTATGTGCGGACCACCATC 0.612000 7 709 0 0 1 0 0 GOLGA6B 55889 broad.mit.edu 37 15 72954612 72954612 + Silent SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr15:72954612G>A ENST00000421285.3 + 11 867 c.867G>A c.(865-867)gcG>gcA p.A289A NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B 289 p.A289A(1) NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 CATCCCTGGCGCCCCCAGCAG 0.537000 5 262 0 0 1 0 0 SEC14L1 6397 broad.mit.edu 37 17 75202351 75202351 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:75202351C>T ENST00000413679.2 + 12 1513 c.1210C>T c.(1210-1212)Cgc>Tgc p.R404C SEC14L1_ENST00000591437.1_Missense_Mutation_p.R370C|SEC14L1_ENST00000392476.2_Missense_Mutation_p.R404C|SEC14L1_ENST00000436233.4_Missense_Mutation_p.R404C|SEC14L1_ENST00000443798.4_Missense_Mutation_p.R404C|SEC14L1_ENST00000430767.4_Missense_Mutation_p.R404C|SEC14L1_ENST00000585618.1_Missense_Mutation_p.R404C|SEC14L1_ENST00000431431.2_Missense_Mutation_p.R370C NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 404 CRAL-TRIO. transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 GCTGAACATGCGCCACTTGTG 0.567000 5 302 0 0 1 0 0 RNF5 6048 broad.mit.edu 37 6 32147865 32147865 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr6:32147865C>T ENST00000427134.2 + 5 422 c.407C>T c.(406-408)aCc>aTc p.T136I RNF5_ENST00000375094.3_Missense_Mutation_p.T136I Q99942 RNF5_HUMAN ring finger protein 5, E3 ubiquitin protein ligase 136 ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding p.T136I(3) endometrium(1)|lung(7)|urinary_tract(2) 10 TTTTTCACCACCGTCTTCAAT 0.557000 7 1121 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187540378 187540378 + Silent SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr4:187540378C>T ENST00000441802.2 - 10 7571 c.7362G>A c.(7360-7362)cgG>cgA p.R2454R NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2454 Cadherin 22. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCAGGGCGTGCCGGTGCAGGT 0.433000 HNSCC(5;0.00058) 7 1032 0 0 1 0 0 GSS 2937 broad.mit.edu 37 20 33519827 33519827 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr20:33519827C>T ENST00000216951.2 - 10 1042 c.944G>A c.(943-945)gGc>gAc p.G315D GSS_ENST00000451957.2_Missense_Mutation_p.G204D|GSS_ENST00000541098.1_Missense_Mutation_p.G187D NM_000178.2 NP_000169.1 P48637 GSHB_HUMAN glutathione synthetase 315 nervous system development|response to oxidative stress|xenobiotic metabolic process cytosol ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(18;0.035) Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151) CTCCAGCATGCCCGGCCTGCT 0.632000 6 639 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7044806 7044806 + Silent SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr18:7044806G>A ENST00000389658.3 - 7 984 c.891C>T c.(889-891)tgC>tgT p.C297C NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 297 Laminin EGF-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGCTCTCCCCGCAAGTATTAT 0.448000 6 798 0 0 1 0 0 GTF2I 2969 broad.mit.edu 37 7 74148279 74148279 + Missense_Mutation SNP A A G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:74148279A>G ENST00000324896.4 + 16 1708 c.1319A>G c.(1318-1320)aAt>aGt p.N440S GTF2I_ENST00000346152.4_Missense_Mutation_p.N419S|GTF2I_ENST00000416070.1_Missense_Mutation_p.N399S|GTF2I_ENST00000353920.4_Missense_Mutation_p.N420S NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 440 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.N440S(7) NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 GAGCTTCTGAATTCAACACGT 0.358000 5 728 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151970855 151970855 + Missense_Mutation SNP G G C TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:151970855G>C ENST00000355193.2 - 7 1165 c.947C>G c.(946-948)aCc>aGc p.T316S KMT2C_ENST00000262189.6_Missense_Mutation_p.T316S lysine (K)-specific methyltransferase 2C p.T316S(2) ATCCTGAAAGGTGCCGGCTCC 0.433000 8 1291 0 0 1 0 0 LAS1L 81887 broad.mit.edu 37 X 64753566 64753566 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chrX:64753566G>A ENST00000374811.3 - 2 326 c.286C>T c.(286-288)Cgc>Tgc p.R96C LAS1L_ENST00000374804.5_Intron|LAS1L_ENST00000312391.8_Missense_Mutation_p.R96C|LAS1L_ENST00000374807.5_Missense_Mutation_p.R96C NM_031206.4 NP_112483.1 Q9Y4W2 LAS1L_HUMAN LAS1-like (S. cerevisiae) 96 MLL1 complex|nucleolus protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 33 AGCTTACAGCGTATCAGGTCA 0.527000 6 570 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144946416 144946416 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr8:144946416G>A ENST00000525985.1 - 2 1077 c.1006C>T c.(1006-1008)Cgg>Tgg p.R336W P58107 EPIPL_HUMAN epiplakin 1 336 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACCCACAGCCGCTGGCCTGTG 0.701000 6 353 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 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 17 205 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848238 73848238 + Silent SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr8:73848238G>A ENST00000523207.1 + 3 1236 c.648G>A c.(646-648)ccG>ccA p.P216P NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 216 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.P216P(1) 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) ATACGCTGCCGGAGCTGCAGG 0.473000 5 816 0 0 1 0 0 SLC7A2 6542 broad.mit.edu 37 8 17412559 17412559 + Missense_Mutation SNP T T G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr8:17412559T>G ENST00000470360.1 + 9 1397 c.1280T>G c.(1279-1281)gTt>gGt p.V427G SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000004531.10_Intron|SLC7A2_ENST00000398090.3_Missense_Mutation_p.V427G P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 388 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) CAGTCACCAGTTGCTGCCACG 0.458000 208 530 0 0 1 0 0 AJ003147.9 0 broad.mit.edu 37 16 3266138 3266138 + RNA SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr16:3266138C>T ENST00000576468.1 + 0 418 TCCCCCACATCTTCTGCGATG 0.532000 59 144 0 0 1 0 0 TSTA3 7264 broad.mit.edu 37 8 144696605 144696605 + Silent SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr8:144696605G>A ENST00000425753.2 - 6 586 c.483C>T c.(481-483)taC>taT p.Y161Y TSTA3_ENST00000529064.1_Silent_p.Y161Y NM_003313.3 NP_003304.1 Q13630 FCL_HUMAN tissue specific transplantation antigen P35B 161 'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1) 9 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) NADH(DB00157) AGGTGCAGCCGTACTGCTGGA 0.657000 5 291 0 0 1 0 0 EWSR1 2130 broad.mit.edu 37 22 29695624 29695624 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr22:29695624C>T ENST00000397938.2 + 16 2033 c.1714C>T c.(1714-1716)Cgg>Tgg p.R572W EWSR1_ENST00000332035.6_Missense_Mutation_p.R516W|EWSR1_ENST00000414183.2_Missense_Mutation_p.R577W|EWSR1_ENST00000332050.6_Missense_Mutation_p.R499W|EWSR1_ENST00000331029.7_Missense_Mutation_p.R534W|EWSR1_ENST00000406548.1_Missense_Mutation_p.R571W NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 572 Arg/Gly/Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding p.R572W(1) EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TGGTGGCATGCGGGGAGGAAG 0.632000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 4 191 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 5 242 0 0 1 0 0 SULT4A1 25830 broad.mit.edu 37 22 44237769 44237769 + Silent SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr22:44237769G>A ENST00000330884.4 - 2 333 c.213C>T c.(211-213)ggC>ggT p.G71G SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Silent_p.G71G NM_014351.3 NP_055166.1 Q9BR01 ST4A1_HUMAN sulfotransferase family 4A, member 1 71 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol sulfotransferase activity kidney(1)|large_intestine(3)|lung(4)|ovary(1) 9 Ovarian(80;0.024)|all_neural(38;0.0416) Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419) CGGGGTCAGCGCCCTGGCTCA 0.667000 46 279 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78683085 78683085 + Splice_Site SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr3:78683085C>T ENST00000436010.2 - 22 4361 c.3364_splice c.e22+1 p.G1122_splice ROBO1_ENST00000495273.1_Splice_Site_p.G1116_splice|ROBO1_ENST00000467549.1_Splice_Site_p.G1061_splice|ROBO1_ENST00000464233.1_Splice_Site_p.G1161_splice Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1161 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TCTTACTTACCAGATGTACTA 0.428000 4 286 0 0 1 0 0 DRP2 1821 broad.mit.edu 37 X 100506020 100506020 + Missense_Mutation SNP A A G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chrX:100506020A>G ENST00000395209.3 + 16 2340 c.1813A>G c.(1813-1815)Aag>Gag p.K605E DRP2_ENST00000538510.1_Missense_Mutation_p.K605E|DRP2_ENST00000541709.1_Missense_Mutation_p.K527E|DRP2_ENST00000402866.1_Missense_Mutation_p.K605E NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 605 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 TGAGCAAGTGAAGCATCAGAC 0.502000 202 661 0 0 1 0 0 SNX32 254122 broad.mit.edu 37 11 65618619 65618619 + Missense_Mutation SNP C C T rs147615662 byFrequency TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr11:65618619C>T ENST00000308342.6 + 7 1122 c.697C>T c.(697-699)Cgc>Tgc p.R233C NM_152760.2 NP_689973.2 Q86XE0 SNX32_HUMAN sorting nexin 32 233 cell communication|protein transport phosphatidylinositol binding p.R233C(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 READ - Rectum adenocarcinoma(159;0.171) CCGCGTCATGCGCGCCCACAA 0.632000 OREG0021087 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 913 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124377777 124377777 + Silent SNP T T C TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr10:124377777T>C ENST00000368909.3 + 38 4855 c.4749T>C c.(4747-4749)tcT>tcC p.S1583S DMBT1_ENST00000368956.2_Silent_p.S955S|DMBT1_ENST00000359586.6_Silent_p.S434S|DMBT1_ENST00000338354.3_Silent_p.S1583S|DMBT1_ENST00000368955.3_Silent_p.S1573S|DMBT1_ENST00000344338.3_Silent_p.S1573S|DMBT1_ENST00000330163.4_Silent_p.S955S NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1583 SRCR 12. S -> P (in Ref. 2; CAB56155). epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GACACGAGTCTTACCTGTGGA 0.592000 6 724 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:72413896A>G ENST00000395270.1 + 14 3610 c.2569A>G c.(2569-2571)Acc>Gcc p.T857A POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1122 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.T857A(8) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) AGGCTCCAGCACCACCACCGG 0.637000 7 331 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 7 415 0 0 1 0 0 BBC3 27113 broad.mit.edu 37 19 47725042 47725042 + Silent SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:47725042C>T ENST00000449228.1 - 4 865 c.702G>A c.(700-702)ccG>ccA p.P234P BBC3_ENST00000341983.4_3'UTR|BBC3_ENST00000300880.7_Silent_p.P74P|BBC3_ENST00000439096.2_3'UTR NM_001127240.2 NP_001120712.1 Q9BXH1 BBC3_HUMAN BCL2 binding component 3 0 activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol cytosol|mitochondrial outer membrane protein binding endometrium(1)|lung(2)|skin(1) 4 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234) TGACGTCCACCGGGCGGGTGC 0.657000 7 191 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78208916 78208916 + RNA SNP C C G rs56290535 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr15:78208916C>G ENST00000565869.1 + 0 53 TCCAGATGTTCTCCTCCATCT 0.627000 5 415 0 0 1 0 0 AKR7L 246181 broad.mit.edu 37 1 19595852 19595852 + RNA SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:19595852G>A ENST00000420396.2 - 0 507 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 TGTACTTGCCGGTCAGCAGGC 0.627000 4 274 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971111 21971111 + Missense_Mutation SNP G G A rs121913385 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr9:21971111G>A ENST00000579755.1 - 2 582 c.290C>T c.(289-291)gCa>gTa p.A97V CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.H83Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 L -> R (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCAGCGTCGTGCACGGGTCGG 0.741000 H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 38 84 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211648 78211648 + RNA SNP A A G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr15:78211648A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CGCCAGGGATAGGGGCTCAGC 0.522000 6 394 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 105011310 105011310 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chrX:105011310G>A ENST00000372582.1 + 11 2473 c.1717G>A c.(1717-1719)Gca>Aca p.A573T IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.A573T|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.A178T NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 573 central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TCTGGACTCCGCAGAACAAGG 0.433000 6 741 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32474685 32474685 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:32474685G>A ENST00000404025.2 - 5 2736 c.2248C>T c.(2248-2250)Cgg>Tgg p.R750W NLRC4_ENST00000360906.5_Missense_Mutation_p.R750W|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.R750W Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 750 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) CCCGGCAGCCGTTGATTCTGT 0.393000 8 1287 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44892133 44892133 + Missense_Mutation SNP C C T rs140033872 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:44892133C>T ENST00000330997.4 - 4 338 c.274G>A c.(274-276)Gtg>Atg p.V92M CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M|ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 TGAAGGTTCACGATATAATCC 0.418000 10 731 0 0 1 0 0 DHRS9 10170 broad.mit.edu 37 2 169940070 169940070 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:169940070C>T ENST00000327239.4 + 6 2049 c.545C>T c.(544-546)gCa>gTa p.A182V DHRS9_ENST00000428522.1_Missense_Mutation_p.A182V|DHRS9_ENST00000436483.2_Missense_Mutation_p.A182V|DHRS9_ENST00000432060.2_Missense_Mutation_p.A242V|DHRS9_ENST00000357546.2_Missense_Mutation_p.A182V|DHRS9_ENST00000412271.1_Missense_Mutation_p.A182V|DHRS9_ENST00000421653.1_Missense_Mutation_p.A35V|DHRS9_ENST00000602501.1_Missense_Mutation_p.A182V NM_005771.4 NP_005762.2 Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase (SDR family) member 9 182 9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process integral to endoplasmic reticulum membrane|microsome alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 TCCAAATATGCAGTGGAAGGT 0.403000 62 245 0 0 1 0 0 CEP104 9731 broad.mit.edu 37 1 3742426 3742426 + Missense_Mutation SNP A A G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:3742426A>G ENST00000378230.3 - 18 2584 c.2260T>C c.(2260-2262)Tgt>Cgt p.C754R NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104kDa 754 centriole binding breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3) 39 CAAAAAATACACAAACTGAAA 0.468000 4 299 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 6 329 0 0 1 0 0 AGAP6 414189 broad.mit.edu 37 10 51768543 51768543 + Missense_Mutation SNP T T C TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr10:51768543T>C ENST00000374056.4 + 7 987 c.589T>C c.(589-591)Tcg>Ccg p.S197P AGAP6_ENST00000412531.3_Missense_Mutation_p.S220P C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 220 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.S220P(3) NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 CTCCATTCCATCGACTCCCAG 0.532000 5 454 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846121 18846121 + RNA SNP C C T rs4302302 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr22:18846121C>T ENST00000412938.1 + 0 3479 CACGCACTGGCGCACGATGTA 0.617000 6 144 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481251 142481251 + RNA SNP A A C rs140137372 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:142481251A>C ENST00000603901.1 + 0 325 NR_001296.3 CAATGACATCATGCTGATCAA 0.522000 6 124 0 0 1 0 0 FAM194A 131831 broad.mit.edu 37 3 150384656 150384656 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr3:150384656C>T ENST00000295910.6 - 13 1698 c.1646G>A c.(1645-1647)cGc>cAc p.R549H FAM194A_ENST00000491361.1_Missense_Mutation_p.R403H NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 549 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TTCTAAGATGCGGACTCCAAT 0.383000 5 475 0 0 1 0 0 WHAMMP3 0 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 5 81 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:53856702G>A ENST00000458035.1 + 4 2891 c.2774G>A c.(2773-2775)cGt>cAt p.R925H ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 925 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R925H(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AAAACCTTCCGTCACAATTCA 0.363000 6 153 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117848907 117848907 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr9:117848907G>A ENST00000350763.4 - 3 1514 c.1103C>T c.(1102-1104)gCc>gTc p.A368V TNC_ENST00000423613.2_Missense_Mutation_p.A368V|TNC_ENST00000340094.3_Missense_Mutation_p.A368V|TNC_ENST00000341037.4_Missense_Mutation_p.A368V|TNC_ENST00000542877.1_Missense_Mutation_p.A368V|TNC_ENST00000537320.1_Missense_Mutation_p.A368V|TNC_ENST00000345230.3_Missense_Mutation_p.A368V|TNC_ENST00000535648.1_Missense_Mutation_p.A368V|TNC_ENST00000346706.3_Missense_Mutation_p.A368V NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 368 EGF-like 7. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GTCCACACCGGCAAAGCCCTC 0.602000 5 455 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21344731 21344731 + Silent SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr22:21344731C>T ENST00000215739.8 + 8 1067 c.708C>T c.(706-708)tgC>tgT p.C236C LZTR1_ENST00000389355.3_Silent_p.C217C|LZTR1_ENST00000479606.1_3'UTR NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 236 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGGCTGTGTGCCGGGACAAGA 0.582000 6 555 0 0 1 0 0 SCD5 79966 broad.mit.edu 37 4 83601872 83601872 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr4:83601872C>T ENST00000319540.4 - 3 876 c.557G>A c.(556-558)cGg>cAg p.R186Q SCD5_ENST00000273908.4_Missense_Mutation_p.R186Q NM_001037582.2 NP_001032671.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 186 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) TCTCTGGATCCGGACCACAGG 0.512000 73 283 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139767411 139767411 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr8:139767411G>A ENST00000303045.6 - 21 2466 c.2020C>T c.(2020-2022)Cca>Tca p.P674S COL22A1_ENST00000435777.1_Missense_Mutation_p.P674S NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 674 Collagen-like 4.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CGAGCTCCTGGAGGACCGGGG 0.567000 HNSCC(7;0.00092) 21 647 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240908 39240908 + Silent SNP T T C TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:39240908T>C ENST00000391417.4 + 1 450 c.450T>C c.(448-450)tgT>tgC p.C150C NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.C150C(1) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 CCTTGTGCTGTGCCTCCTCTT 0.607000 4 48 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65226641 65226641 + RNA SNP G G T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:65226641G>T ENST00000442266.1 + 0 1167 AGGTTCTTGCGCAGAATTCTG 0.383000 6 94 5.18039e-06 5.36181e-06 1 1 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726846 32726846 + Missense_Mutation SNP C C T rs142243133 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr6:32726846C>T ENST00000435145.2 - 3 488 c.427G>A c.(427-429)Gtc>Atc p.V143I HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.V143I|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.V143I Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 143 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACCGAGCAGACCAGCAGGTTG 0.552000 6 480 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162338 90162338 + RNA SNP T T C TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr16:90162338T>C ENST00000567960.1 + 0 1074 TUBB8P7_ENST00000564451.1_RNA GACATCCCACTCCGGGGGCTA 0.483000 6 821 0 0 1 0 0 RP11-435B5.4 0 broad.mit.edu 37 1 143403554 143403554 + RNA SNP T T G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:143403554T>G ENST00000423249.1 - 0 59 GGAACAGGATTTCTTTGGCCA 0.468000 6 49 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41275669 41275669 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr3:41275669G>A ENST00000349496.5 + 10 1844 c.1564G>A c.(1564-1566)Gca>Aca p.A522T CTNNB1_ENST00000453024.1_Missense_Mutation_p.A515T|CTNNB1_ENST00000396183.3_Missense_Mutation_p.A522T|CTNNB1_ENST00000405570.1_Missense_Mutation_p.A522T|CTNNB1_ENST00000396185.3_Missense_Mutation_p.A522T NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 522 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) CCTTTGTCCCGCAAATCATGC 0.468000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 5 303 0 0 1 0 0 TRMT12 55039 broad.mit.edu 37 8 125463327 125463327 + Silent SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr8:125463327G>A ENST00000328599.3 + 1 280 c.159G>A c.(157-159)ccG>ccA p.P53P TRMT12_ENST00000521443.1_3'UTR NM_017956.3 NP_060426.2 Q53H54 TYW2_HUMAN tRNA methyltransferase 12 homolog (S. cerevisiae) 53 tRNA processing methyltransferase activity breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) AAAAGATGCCGGATGGCTCGG 0.557000 5 375 0 0 1 0 0 COQ7 10229 broad.mit.edu 37 16 19089416 19089416 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr16:19089416C>T ENST00000321998.5 + 6 656 c.590C>T c.(589-591)gCc>gTc p.A197V COQ7_ENST00000568985.1_Missense_Mutation_p.A197V|COQ7_ENST00000569127.1_Missense_Mutation_p.A174V|COQ7_ENST00000544894.2_Missense_Mutation_p.A159V NM_016138.4 NP_057222.2 Q99807 COQ7_HUMAN coenzyme Q7 homolog, ubiquinone (yeast) 197 2 X approximate tandem repeats. ubiquinone biosynthetic process mitochondrial inner membrane|nucleus oxidoreductase activity|transition metal ion binding breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1) 10 CCAGCCTATGCCGTCCTGAAG 0.418000 4 210 0 0 1 0 0 RBM28 55131 broad.mit.edu 37 7 127964701 127964701 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:127964701G>A ENST00000223073.1 - 12 1364 c.1250C>T c.(1249-1251)gCg>gTg p.A417V RBM28_ENST00000415472.2_Missense_Mutation_p.A276V NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 417 RRM 3. mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 ACGGGTCACCGCCAAGTCAAC 0.552000 7 1143 0 0 1 0 0 FBXO18 84893 broad.mit.edu 37 10 5956233 5956233 + Splice_Site SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr10:5956233G>A ENST00000379999.5 + 9 1653 c.e9+1 FBXO18_ENST00000362091.4_Splice_Site|FBXO18_ENST00000397269.3_Splice_Site|FBXO18_ENST00000379994.1_Splice_Site NM_032807.4 NP_116196.3 Q8NFZ0 FBX18_HUMAN F-box protein, helicase, 18 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1) 40 GCCTTTGCCGGTAAGGGAGCC 0.488000 5 321 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110884183 110884183 + Missense_Mutation SNP G G A rs148790140 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:110884183G>A ENST00000369784.3 + 1 3056 c.2156G>A c.(2155-2157)cGt>cAt p.R719H RBM15_ENST00000602849.1_Missense_Mutation_p.R719H|RBM15_ENST00000487146.2_Missense_Mutation_p.R719H NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 719 Arg-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) AAGCGAGACCGTAAAAACTCT 0.512000 T MKL1 acute megakaryocytic leukemia 5 383 0 0 1 0 0 PEX6 5190 broad.mit.edu 37 6 42933521 42933521 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr6:42933521G>A ENST00000304611.8 - 13 2438 c.2369C>T c.(2368-2370)gCc>gTc p.A790V PEX6_ENST00000244546.4_Missense_Mutation_p.P708S NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 790 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3) 15 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) CCTGGCCCTGGCAAACACTGA 0.577000 6 864 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16287673 16287673 + Missense_Mutation SNP C C G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr22:16287673C>G ENST00000343518.6 - 1 264 c.213G>C c.(211-213)tgG>tgC p.W71C NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 71 p.W71C(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TCCCCCTGCACCAGGGGAAGC 0.582000 8 1733 0 0 1 0 0 GDF9 2661 broad.mit.edu 37 5 132199861 132199861 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr5:132199861C>T ENST00000378673.2 - 2 1231 c.365G>A c.(364-366)cGg>cAg p.R122Q GDF9_ENST00000464378.1_5'UTR|GDF9_ENST00000296875.2_Missense_Mutation_p.R122Q O60383 GDF9_HUMAN growth differentiation factor 9 122 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 22 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGCTTGTGCCGGGTACAGGG 0.463000 8 651 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 5 179 0 0 1 0 0 TRIM49 57093 broad.mit.edu 37 11 89531568 89531568 + Silent SNP T T C rs139075721 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr11:89531568T>C ENST00000329758.1 - 8 1417 c.1089A>G c.(1087-1089)aaA>aaG p.K363K TRIM49_ENST00000532501.2_Silent_p.K286K NM_020358.2 NP_065091.1 P0CI25 TRI49_HUMAN tripartite motif containing 49 363 B30.2/SPRY. intracellular zinc ion binding p.K363K(3) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1) 27 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GATTCTTCTCTTTCCGATACA 0.458000 5 613 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57194311 57194311 + Silent SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:57194311G>A ENST00000331162.4 - 3 424 c.154C>T c.(154-156)Ctg>Ttg p.L52L NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 52 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) AGGGAGACCAGGTTTCTGTAG 0.378000 6 696 0 0 1 0 0 RTN4RL2 349667 broad.mit.edu 37 11 57235268 57235268 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr11:57235268G>A ENST00000335099.3 + 2 535 c.218G>A c.(217-219)cGc>cAc p.R73H RTN4RL2_ENST00000395120.2_Missense_Mutation_p.R73H|RTN4RL2_ENST00000533205.1_Missense_Mutation_p.R73H NM_178570.1 NP_848665.1 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 73 axon regeneration anchored to plasma membrane receptor activity p.R73H(1) NS(1)|endometrium(1)|large_intestine(2)|lung(2) 6 AACCTCATCCGCACGCTGCGG 0.622000 6 833 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chrX:73811938G>C ENST00000332687.6 - 4 1430 c.1212C>G c.(1210-1212)acC>acG p.T404T RLIM_ENST00000349225.2_Silent_p.T404T NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.T404T(6) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTTAACATGGTCTGAATTG 0.413000 13 607 0 0 1 0 0 CHMP2A 27243 broad.mit.edu 37 19 59063736 59063736 + Missense_Mutation SNP G G A rs146786448 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:59063736G>A ENST00000600118.1 - 2 663 c.238C>T c.(238-240)Cgg>Tgg p.R80W CHMP2A_ENST00000601220.1_Missense_Mutation_p.R80W|CHMP2A_ENST00000312547.2_Missense_Mutation_p.R80W O43633 CHM2A_HUMAN charged multivesicular body protein 2A 80 Interaction with VPS4B. cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein domain specific binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 7 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) ATGTTGGCCCGCATCAATACA 0.537000 6 770 0 0 1 0 0 EVI2A 2123 broad.mit.edu 37 17 29646024 29646024 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:29646024G>A ENST00000247270.3 - 3 413 c.77C>T c.(76-78)aCg>aTg p.T26M NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron|EVI2A_ENST00000461237.1_Missense_Mutation_p.T3M|EVI2A_ENST00000462804.2_Missense_Mutation_p.T3M|NF1_ENST00000581113.2_Intron NM_001003927.2 NP_001003927.1 P22794 EVI2A_HUMAN ecotropic viral integration site 2A 3 integral to membrane transmembrane receptor activity p.0?(8)|p.?(3) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18) TTCCATGTCCGTGGGCATGCT 0.383000 17 1100 0 0 1 0 0 HNRNPR 10236 broad.mit.edu 37 1 23648137 23648137 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:23648137C>T ENST00000478691.1 - 6 663 c.392G>A c.(391-393)cGc>cAc p.R131H HNRNPR_ENST00000302271.6_Missense_Mutation_p.R232H|HNRNPR_ENST00000374612.1_Missense_Mutation_p.R232H|HNRNPR_ENST00000427764.2_Missense_Mutation_p.R194H|HNRNPR_ENST00000426846.2_Missense_Mutation_p.R72H|HNRNPR_ENST00000606561.1_Missense_Mutation_p.R93H|HNRNPR_ENST00000374616.3_Missense_Mutation_p.R232H NM_001102397.1|NM_001102399.1 NP_001095867.1|NP_001095869.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 232 Asp/Glu-rich (acidic). catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) TTTACCAGGGCGAATTTCATA 0.378000 147 314 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122623025 122623025 + Missense_Mutation SNP C C A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr12:122623025C>A ENST00000319080.6 + 14 2443 c.2311C>A c.(2311-2313)Cag>Aag p.Q771K MLXIP_ENST00000538698.1_Missense_Mutation_p.Q378K Q9HAP2 MLXIP_HUMAN MLX interacting protein 771 Leucine-zipper. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) CAAGCTGCAGCAGGAGAGAGG 0.627000 6 222 1 1 1 1 0 SAMD9 54809 broad.mit.edu 37 7 92732859 92732859 + Missense_Mutation SNP A A G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:92732859A>G ENST00000379958.2 - 3 2821 c.2552T>C c.(2551-2553)aTt>aCt p.I851T NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 851 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TATTACGGCAATACTGTCTGG 0.343000 97 333 0 0 1 0 0 CCDC125 202243 broad.mit.edu 37 5 68590723 68590723 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr5:68590723G>A ENST00000396496.2 - 9 928 c.821C>T c.(820-822)gCg>gTg p.A274V CCDC125_ENST00000511257.1_Missense_Mutation_p.A149V|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.A274V|CCDC125_ENST00000383374.2_Intron Q86Z20 CC125_HUMAN coiled-coil domain containing 125 274 cytoplasm p.A274V(2) breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1) 19 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) TCCGAGGACCGCAAGCTTTAA 0.488000 6 503 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1577073 1577073 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:1577073G>A ENST00000572621.1 - 21 3678 c.3413C>T c.(3412-3414)gCc>gTc p.A1138V PRPF8_ENST00000304992.6_Missense_Mutation_p.A1138V Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1138 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GCGCATGCGGGCATCTCGGGG 0.517000 5 582 0 0 1 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166493 180166493 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr5:180166493G>A ENST00000307832.2 - 1 606 c.566C>T c.(565-567)gCg>gTg p.A189V NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor, family 2, subfamily Y, member 1 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTCTGTGTCCGCACAAGCCAA 0.507000 6 369 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 6 276 0.0381472 0.0384362 1 1 0 AKT1 207 broad.mit.edu 37 14 105239615 105239615 + Silent SNP G G A rs146847196 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr14:105239615G>A ENST00000554581.1 - 9 2410 c.930C>T c.(928-930)tgC>tgT p.C310C AKT1_ENST00000554192.1_Silent_p.C30C|AKT1_ENST00000555528.1_Silent_p.C310C|AKT1_ENST00000555458.1_Silent_p.C5C|AKT1_ENST00000554585.1_5'UTR|AKT1_ENST00000544168.1_Silent_p.C248C|AKT1_ENST00000554848.1_Silent_p.C310C|AKT1_ENST00000407796.2_Silent_p.C310C|AKT1_ENST00000402615.2_Silent_p.C310C|AKT1_ENST00000349310.3_Silent_p.C310C P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 310 Protein kinase. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) CAGGTGTGCCGCAAAAGGTCT 0.602000 1 Mis """breast, colorectal, ovarian, NSCLC""" 5 251 0 0 1 0 0 HSD11B1 3290 broad.mit.edu 37 1 209880366 209880366 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:209880366G>A ENST00000367028.2 + 5 579 c.410G>A c.(409-411)cGc>cAc p.R137H HSD11B1_ENST00000261465.1_Missense_Mutation_p.R137H|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Missense_Mutation_p.R137H NM_001206741.1 NP_001193670.1 P28845 DHI1_HUMAN hydroxysteroid (11-beta) dehydrogenase 1 137 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) CACCATGTGCGCAAAAGCATG 0.448000 5 562 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116804 53116804 + Silent SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:53116804G>A ENST00000597597.1 - 2 3267 c.1014C>T c.(1012-1014)atC>atT p.I338I ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I P51522 ZNF83_HUMAN zinc finger protein 83 338 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I338I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) CTCCAGTGTGGATTCTCCAGT 0.413000 8 784 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343151 130343151 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr11:130343151G>A ENST00000299164.2 + 8 2288 c.2288G>A c.(2287-2289)gGc>gAc p.G763D NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 763 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) AGCGGCACGGGCACAGCGGTG 0.672000 5 504 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371669 109371669 + Missense_Mutation SNP A A G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:109371669A>G ENST00000283195.6 + 17 2546 c.2420A>G c.(2419-2421)cAg>cGg p.Q807R NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 807 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GCAGAAGATCAGAATTCTTTA 0.333000 11 1159 0 0 1 0 0 CA5B 11238 broad.mit.edu 37 X 15800764 15800764 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chrX:15800764G>A ENST00000318636.3 + 8 1067 c.931G>A c.(931-933)Gcc>Acc p.A311T CA5B_ENST00000454127.2_Missense_Mutation_p.A311T NM_007220.3 NP_009151.1 Q9Y2D0 CAH5B_HUMAN carbonic anhydrase VB, mitochondrial 311 one-carbon metabolic process mitochondrion carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2) 9 Hepatocellular(33;0.183) ACCCAAGCCGGCCACCAGCCA 0.438000 5 589 0 0 1 0 0 RTN4R 65078 broad.mit.edu 37 22 20229361 20229361 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr22:20229361C>T ENST00000043402.7 - 2 1733 c.1295G>A c.(1294-1296)gGc>gAc p.G432D NM_023004.5 NP_075380.1 Q9BZR6 RTN4R_HUMAN reticulon 4 receptor 432 axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane protein binding|receptor activity lung(1)|ovary(1)|prostate(1) 3 Colorectal(54;0.0993) GCCTGCCTGGCCCAGACGGCA 0.731000 22 67 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000583708.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 5 202 0.014758 0.0149263 1 1 0 KBTBD6 89890 broad.mit.edu 37 13 41705440 41705440 + Missense_Mutation SNP G G T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr13:41705440G>T ENST00000379485.1 - 1 1442 c.1208C>A c.(1207-1209)aCa>aAa p.T403K KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 403 protein binding p.T403K(7) NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CCAGAGGTCTGTCCTGGGCTG 0.507000 7 732 5.16669e-11 5.45372e-11 1 1 0 GLTSCR2 29997 broad.mit.edu 37 19 48259965 48259965 + Missense_Mutation SNP T T G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:48259965T>G ENST00000246802.5 + 12 1432 c.1394T>G c.(1393-1395)gTg>gGg p.V465G GLTSCR2_ENST00000598681.1_3'UTR NM_015710.4 NP_056525.2 Q9NZM5 GSCR2_HUMAN glioma tumor suppressor candidate region gene 2 465 EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413).|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5). nucleolus central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 15 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) AAGTACAAGGTGAAGCTGGTG 0.657000 49 227 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43164434 43164434 + Silent SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr6:43164434C>T ENST00000252050.4 + 11 2721 c.2637C>T c.(2635-2637)tgC>tgT p.C879C CUL9_ENST00000354495.3_Silent_p.C769C|CUL9_ENST00000372647.2_Silent_p.C879C NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 879 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 TACTTTTGTGCAACCACCACA 0.502000 7 1116 0 0 1 0 0 OPN1LW 5956 broad.mit.edu 37 X 153420210 153420210 + Missense_Mutation SNP G G C TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chrX:153420210G>C ENST00000369951.4 + 4 800 c.740G>C c.(739-741)cGa>cCa p.R247P OPN1LW_ENST00000463296.1_Intron NM_020061.4 NP_064445.1 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 247 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTGGCCATCCGAGCGGTAAGC 0.567000 33 1492 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42680013 42680013 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr20:42680013G>A ENST00000358131.5 + 4 714 c.506G>A c.(505-507)cGc>cAc p.R169H TOX2_ENST00000423191.1_Missense_Mutation_p.R118H|TOX2_ENST00000341197.3_Missense_Mutation_p.R160H|TOX2_ENST00000372999.1_Missense_Mutation_p.R118H|TOX2_ENST00000435864.2_Missense_Mutation_p.R38H NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) CTGCTGGGTCGCCCGGCAATG 0.647000 68 200 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43630642 43630642 + Silent SNP G G A rs2808959 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr9:43630642G>A ENST00000332857.6 - 1 88 c.60C>T c.(58-60)agC>agT p.S20S NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 p.S20S(1) ATGGTGTGGAGCTGGGGGCGT 0.473000 5 473 0 0 1 0 0 AGAP6 414189 broad.mit.edu 37 10 51749117 51749117 + Silent SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr10:51749117G>A ENST00000412531.3 + 2 345 c.273G>A c.(271-273)caG>caA p.Q91Q AGAP6_ENST00000374056.4_Intron NM_001077665.2 NP_001071133.2 C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 91 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.Q91Q(1) NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 CAATATTCCAGAGGAACTCTC 0.358000 14 285 0 0 1 0 0 EHMT2 10919 broad.mit.edu 37 6 31851582 31851582 + Splice_Site SNP C C A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr6:31851582C>A ENST00000395728.3 - 21 3087 c.e21+1 EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375528.4_Splice_Site|EHMT2_ENST00000480912.1_Splice_Site|EHMT2_ENST00000375530.4_Splice_Site|EHMT2_ENST00000375537.4_Splice_Site Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 CCCCTACTCACCTGCAGGTGG 0.577000 11 1092 0.00307968 0.00315075 1 1 0 LILRA6 79168 broad.mit.edu 37 19 54744217 54744217 + Silent SNP G G A rs78401423 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:54744217G>A ENST00000419410.2 - 6 1192 c.1191C>T c.(1189-1191)taC>taT p.Y397Y LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Silent_p.Y397Y|LILRA6_ENST00000396365.2_Silent_p.Y397Y|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6 central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2) 38 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGTATGAGCCGTAGCACCTGT 0.597000 7 1070 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49721622 49721622 + Splice_Site SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr3:49721622C>T ENST00000449682.2 - 18 2378 c.2016_splice c.e18-1 p.G673_splice NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 659 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCGTAGTCACCCTGGCAGGTA 0.567000 10 202 0 0 1 0 0 TCF23 150921 broad.mit.edu 37 2 27373157 27373157 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:27373157G>A ENST00000296096.5 + 2 519 c.389G>A c.(388-390)cGc>cAc p.R130H NM_175769.2 NP_786951.1 Q7RTU1 TCF23_HUMAN transcription factor 23 130 Helix-loop-helix motif. cell differentiation|muscle organ development|regulation of transcription, DNA-dependent nucleus large_intestine(2)|lung(11)|prostate(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACCTCACCCGCACACTCGGC 0.652000 9 1147 0 0 1 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1812947 1812947 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr16:1812947G>A ENST00000250894.4 + 16 1992 c.1835G>A c.(1834-1836)cGc>cAc p.R612H MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R606H NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 612 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 AGCCAGCGCCGCAACCATGCC 0.652000 6 778 0 0 1 0 0 HDLBP 3069 broad.mit.edu 37 2 242179464 242179464 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:242179464C>T ENST00000391975.1 - 18 2470 c.2243G>A c.(2242-2244)gGc>gAc p.G748D HDLBP_ENST00000310931.4_Missense_Mutation_p.G748D|HDLBP_ENST00000391976.2_Missense_Mutation_p.G748D|HDLBP_ENST00000427183.2_Missense_Mutation_p.G715D NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 748 KH 9. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) GCGAATTTTGCCGCCCCCCTT 0.542000 6 730 0 0 1 0 0 EBNA1BP2 10969 broad.mit.edu 37 1 43636531 43636531 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:43636531C>T ENST00000431635.2 - 5 656 c.508G>A c.(508-510)Gca>Aca p.A170T EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.A115T NM_001159936.1 NP_001153408.1 Q99848 EBP2_HUMAN EBNA1 binding protein 2 115 ribosome biogenesis membrane fraction|nucleolus protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(9) 16 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCAAGCACTGCGGCCTGGGCT 0.507000 5 685 0 0 1 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6473911 6473911 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr4:6473911G>A ENST00000382599.4 - 1 262 c.46C>T c.(46-48)Cgg>Tgg p.R16W PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Intron Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 16 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 CTGTGGTCCCGCAGGAAGCTG 0.642000 6 745 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151921103 151921103 + Missense_Mutation SNP T T C TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:151921103T>C ENST00000355193.2 - 20 3538 c.3320A>G c.(3319-3321)gAt>gGt p.D1107G KMT2C_ENST00000262189.6_Missense_Mutation_p.D1107G lysine (K)-specific methyltransferase 2C ACAATACCTATCACATTGTCT 0.328000 74 194 0 0 1 0 0 KCNS2 3788 broad.mit.edu 37 8 99440425 99440425 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr8:99440425G>A ENST00000287042.4 + 2 568 c.218G>A c.(217-219)cGc>cAc p.R73H KCNS2_ENST00000521839.1_Missense_Mutation_p.R73H NM_020697.2 NP_065748.1 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 73 voltage-gated potassium channel complex voltage-gated potassium channel activity p.R73H(1) autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 31 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) TACTTCGACCGCAACCCTGAG 0.597000 6 587 0 0 1 0 0 CES2 8824 broad.mit.edu 37 16 66969542 66969542 + Missense_Mutation SNP C C T rs151081443 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr16:66969542C>T ENST00000317091.4 + 1 1180 c.196C>T c.(196-198)Cgg>Tgg p.R66W CES2_ENST00000417689.1_Missense_Mutation_p.R66W NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 2 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) GCCGACCATGCGGCTGCACAG 0.697000 8 893 0 0 1 0 0 SLC2A2 6514 broad.mit.edu 37 3 170723136 170723136 + Nonsense_Mutation SNP G G A rs121909743 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr3:170723136G>A ENST00000314251.3 - 7 980 c.901C>T c.(901-903)Cga>Tga p.R301* SLC2A2_ENST00000382808.4_Nonsense_Mutation_p.R182* NM_000340.1 NP_000331.1 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose transporter), member 2 301 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity p.R301*(1) central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) ATAGGCTGTCGGTAGCTGGAA 0.418000 10 441 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821425 72821425 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr16:72821425C>T ENST00000268489.5 - 10 11422 c.10750G>A c.(10750-10752)Gca>Aca p.A3584T ZFHX3_ENST00000397992.5_Missense_Mutation_p.A2670T NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3584 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GAGGTAGATGCGGTGCTAGGA 0.612000 9 733 0 0 1 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011400 46011400 + Silent SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr21:46011400G>A ENST00000400368.1 - 1 986 c.966C>T c.(964-966)tcC>tcT p.S322S TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 322 29 X 5 AA repeats of C-C-X(3). keratin filament p.S322S(5) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 AGGCACCACAGGAGGGGACGG 0.692000 5 600 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20585888 20585888 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr14:20585888C>T ENST00000315543.4 + 1 323 c.323C>T c.(322-324)gCc>gTc p.A108V NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A108V(1) kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GCTTCTTTTGCCACCCCTAAG 0.398000 7 1215 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661328 22661328 + RNA SNP G G A rs1044439 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr22:22661328G>A ENST00000426066.1 + 0 360 NR_027293.1 TTTGACCCCCGTTACCCCATT 0.507000 5 242 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183714508 183714508 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr4:183714508G>A ENST00000511685.1 + 26 6806 c.6683G>A c.(6682-6684)cGt>cAt p.R2228H TENM3_ENST00000406950.2_Missense_Mutation_p.R2228H teneurin transmembrane protein 3 p.R2228H(1) GTGATCTACCGTTATGACGGC 0.463000 70 244 0 0 1 0 0 TOMM40L 84134 broad.mit.edu 37 1 161198845 161198845 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:161198845G>A ENST00000367988.3 + 10 1156 c.887G>A c.(886-888)cGc>cAc p.R296H TOMM40L_ENST00000367987.1_Missense_Mutation_p.R296H|TOMM40L_ENST00000545897.1_Missense_Mutation_p.R262H|TOMM40L_ENST00000474486.1_3'UTR NM_032174.4 NP_115550.2 Q969M1 TM40L_HUMAN translocase of outer mitochondrial membrane 40 homolog (yeast)-like 296 Required for mitochondrial targeting (By similarity). protein transport mitochondrial outer membrane|pore complex porin activity|voltage-gated anion channel activity large_intestine(2)|liver(4)|lung(4) 10 all_cancers(52;1.86e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) AATCACTGGCGCAACAGATTC 0.582000 6 616 0 0 1 0 0 AGAP6 414189 broad.mit.edu 37 10 51754173 51754173 + Missense_Mutation SNP G G T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr10:51754173G>T ENST00000374056.4 + 3 709 c.311G>T c.(310-312)aGc>aTc p.S104I AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 127 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.S127I(2) NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 ATAAGAAGAAGCAACTGTACA 0.269000 9 269 0.00448238 0.00456825 1 1 0 AC008103.5 0 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 7 174 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345756 33345756 + Silent SNP T T C TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr20:33345756T>C ENST00000374796.2 - 8 3365 c.795A>G c.(793-795)caA>caG p.Q265Q NCOA6_ENST00000359003.2_Silent_p.Q265Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 265 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.Q265Q(1) 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 gttgttgttgttgctgctgct 0.537000 6 341 0 0 1 0 0 SUSD1 64420 broad.mit.edu 37 9 114911537 114911537 + Silent SNP G G T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr9:114911537G>T ENST00000374270.3 - 3 532 c.360C>A c.(358-360)ggC>ggA p.G120G SUSD1_ENST00000374264.2_Silent_p.G120G|SUSD1_ENST00000374263.3_Silent_p.G120G NM_022486.3 NP_071931.2 Q6UWL2 SUSD1_HUMAN sushi domain containing 1 120 integral to membrane calcium ion binding SUSD1/ROD1(2) central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 TACAAAAGGTGCCATCGTTGG 0.468000 399 834 3.56204e-131 3.88321e-131 1 1 0 ADCY9 115 broad.mit.edu 37 16 4016765 4016765 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr16:4016765G>A ENST00000294016.3 - 11 3611 c.3073C>T c.(3073-3075)Cgg>Tgg p.R1025W NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 1025 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GCCTGGTCCCGCATGCTCTGG 0.577000 6 871 0 0 1 0 0 TAF5L 27097 broad.mit.edu 37 1 229750171 229750171 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:229750171C>T ENST00000366675.3 - 2 147 c.59G>A c.(58-60)cGg>cAg p.R20Q TAF5L_ENST00000258281.2_Missense_Mutation_p.R20Q|TAF5L_ENST00000366676.1_Missense_Mutation_p.R20Q|TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000366674.1_Missense_Mutation_p.R20Q NM_001025247.1 NP_001020418.1 O75529 TAF5L_HUMAN TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 20 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1) 11 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) CACGTACTGCCGGCGTTTGAG 0.562000 81 317 0 0 1 0 0 KIAA0226L 80183 broad.mit.edu 37 13 46946147 46946147 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr13:46946147G>A ENST00000429979.1 - 3 1068 c.464C>T c.(463-465)gCc>gTc p.A155V KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A155V|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A155V|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A88V|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A155V|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.A20V|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A155V NM_025113.2 NP_079389.2 Q9H714 CM018_HUMAN KIAA0226-like 155 NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 TGGGGAGGTGGCCAAAATCCC 0.507000 4 231 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197072532 197072532 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:197072532G>A ENST00000367409.4 - 18 6105 c.5849C>T c.(5848-5850)gCg>gTg p.A1950V ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1950 IQ 12. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CACCAGTACCGCATGACGGAG 0.393000 7 1150 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) 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) tgctgctgctactgctgctgc 0.532000 T MLL ALL 25 302 0 0 1 0 0 ACTR1B 10120 broad.mit.edu 37 2 98273974 98273974 + Splice_Site SNP T T A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:98273974T>A ENST00000289228.5 - 9 1142 c.e9-2 NM_005735.3 NP_005726.1 P42025 ACTY_HUMAN ARP1 actin-related protein 1 homolog B, centractin beta (yeast) centrosome|dynactin complex ATP binding|protein binding endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 15 CTCCGAAGCCTGTGAACACAA 0.587000 5 547 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129370592 129370592 + Missense_Mutation SNP T T A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr3:129370592T>A ENST00000393238.3 - 6 2034 c.1694A>T c.(1693-1695)cAg>cTg p.Q565L TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 565 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 CTGCTGCTGCTGCAGCTCCAT 0.572000 6 412 0 0 1 0 0 DAB2IP 153090 broad.mit.edu 37 9 124528949 124528949 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr9:124528949G>A ENST00000408936.3 + 9 1819 c.1637G>A c.(1636-1638)cGc>cAc p.R546H DAB2IP_ENST00000259371.2_Missense_Mutation_p.R518H|DAB2IP_ENST00000309989.1_Missense_Mutation_p.R422H Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 546 Ras-GAP. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 CCTGATGACCGCACTGCCCGC 0.627000 6 795 0 0 1 0 0 IRF5 3663 broad.mit.edu 37 7 128588348 128588348 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:128588348G>A ENST00000402030.2 + 8 1289 c.1217G>A c.(1216-1218)cGc>cAc p.R406H IRF5_ENST00000249375.4_Missense_Mutation_p.R406H|IRF5_ENST00000357234.5_Missense_Mutation_p.R422H|IRF5_ENST00000477535.1_Missense_Mutation_p.R320H|IRF5_ENST00000473745.1_Missense_Mutation_p.R406H NM_001098629.1|NM_001098630.1 NP_001092099.1|NP_001092100.1 Q13568 IRF5_HUMAN interferon regulatory factor 5 406 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1) 15 TGGCCTGACCGCAAACCCCGA 0.527000 6 468 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146351187 146351187 + Silent SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr6:146351187C>T ENST00000392299.2 + 2 1004 c.534C>T c.(532-534)ttC>ttT p.F178F GRM1_ENST00000507907.1_Silent_p.F178F|GRM1_ENST00000361719.2_Silent_p.F178F|GRM1_ENST00000282753.1_Silent_p.F178F|GRM1_ENST00000492807.2_Silent_p.F178F|GRM1_ENST00000355289.4_Silent_p.F178F Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 178 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TCCAGCTCTTCGACATCCCCC 0.542000 191 358 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807460 20807460 + Missense_Mutation SNP T T C TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:20807460T>C ENST00000601440.1 - 4 1369 c.1223A>G c.(1222-1224)tAc>tGc p.Y408C CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y408C(1) breast(1)|endometrium(1)|lung(3)|skin(1) 6 GTTAGAGGAGTACTTAAAAGC 0.408000 5 465 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 9 300 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871055 170871055 + Silent SNP G G A rs112928724 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr6:170871055G>A ENST00000392092.2 + 3 510 c.231G>A c.(229-231)caG>caA p.Q77Q TBP_ENST00000540980.1_Silent_p.Q57Q|TBP_ENST00000230354.6_Silent_p.Q77Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 77 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) aacagcagcagcagcagcagc 0.572000 8 225 0 0 1 0 0 TRH 7200 broad.mit.edu 37 3 129695840 129695840 + Silent SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr3:129695840G>A ENST00000302649.3 + 3 1037 c.510G>A c.(508-510)gaG>gaA p.E170E TRH_ENST00000507066.1_Silent_p.E166E NM_007117.3 NP_009048.1 P20396 TRH_HUMAN thyrotropin-releasing hormone 170 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity p.E170E(1) NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 14 Gggaagaagaggaggaggagg 0.642000 5 333 0 0 1 0 0 GPR125 166647 broad.mit.edu 37 4 22390725 22390725 + Silent SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr4:22390725C>T ENST00000334304.5 - 18 2978 c.2709G>A c.(2707-2709)cgG>cgA p.R903R GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 903 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity p.R903R(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) GTGCGTTTGGCCGACTGCCGT 0.418000 9 1119 0 0 1 0 0 INTS4L1 0 broad.mit.edu 37 7 64639752 64639752 + RNA SNP A A T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:64639752A>T ENST00000587624.1 + 0 635 TTGATTTCCTAGTTGACATGT 0.443000 18 152 0 0 1 0 0 NPEPPS 9520 broad.mit.edu 37 17 45662927 45662927 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:45662927G>A ENST00000322157.4 + 6 947 c.710G>A c.(709-711)cGc>cAc p.R237H NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000530173.1_Missense_Mutation_p.R233H|NPEPPS_ENST00000544660.1_Missense_Mutation_p.R157H NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 237 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 AAGTTTGCCCGCACACCTGTT 0.353000 7 651 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26851719 26851719 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:26851719G>A ENST00000226247.2 + 2 351 c.322G>A c.(322-324)Gca>Aca p.A108T FOXN1_ENST00000579795.1_Missense_Mutation_p.A108T NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 108 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development 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 endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) TGAGGAGGCCGCAGCAAGCAG 0.667000 4 166 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20841276 20841276 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr14:20841276G>A ENST00000262715.5 - 48 6885 c.6845C>T c.(6844-6846)gCc>gTc p.A2282V TEP1_ENST00000545983.1_Missense_Mutation_p.A620V|TEP1_ENST00000556935.1_Missense_Mutation_p.A2174V NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 2282 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AGCAGTGACGGCTGCAGAACT 0.512000 5 501 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 8 346 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 4 134 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 9 370 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8218705 8218705 + Missense_Mutation SNP C C G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr4:8218705C>G ENST00000539824.1 + 7 796 c.422C>G c.(421-423)cCt>cGt p.P141R SH3TC1_ENST00000245105.3_Missense_Mutation_p.P217R Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 217 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GTCCTGTGTCCTGACCACCAT 0.682000 84 374 0 0 1 0 0 DCX 1641 broad.mit.edu 37 X 110644391 110644391 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chrX:110644391G>A ENST00000338081.3 - 3 946 c.775C>T c.(775-777)Cgc>Tgc p.R259C DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000356915.2_Missense_Mutation_p.R178C|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.R178C NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 259 R -> C (in SBHX).|R -> L (in SBHX). axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding p.R178C(1)|p.R259C(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 AGCTTGGGGCGCACAAAGTCC 0.537000 7 481 0 0 1 0 0 PER2 8864 broad.mit.edu 37 2 239169499 239169499 + Silent SNP G G A rs145850151 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:239169499G>A ENST00000254657.3 - 13 1791 c.1512C>T c.(1510-1512)aaC>aaT p.N504N PER2_ENST00000254658.3_3'UTR NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 504 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CCTCATGGCCGTTGCTGTCGC 0.602000 9 1274 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129906577 129906577 + Missense_Mutation SNP G G A rs117795868 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr10:129906577G>A ENST00000368654.3 - 13 3902 c.3527C>T c.(3526-3528)aCg>aTg p.T1176M MKI67_ENST00000368653.3_Missense_Mutation_p.T816M NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1176 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGGTTTGGGCGTAAGCATGGC 0.463000 7 1199 0 0 1 0 0 MMP9 4318 broad.mit.edu 37 20 44639630 44639630 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr20:44639630G>A ENST00000372330.3 + 4 609 c.590G>A c.(589-591)gGc>gAc p.G197D NM_004994.2 NP_004985.2 P14780 MMP9_HUMAN matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) 197 collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) CCTGGCCCCGGCATTCAGGGA 0.602000 6 682 0 0 1 0 0 OGFR 11054 broad.mit.edu 37 20 61444809 61444809 + Silent SNP A A G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr20:61444809A>G ENST00000370461.1 + 5 3963 c.1686A>G c.(1684-1686)ccA>ccG p.P562P OGFR_ENST00000370468.3_Intron|OGFR_ENST00000290291.6_Silent_p.P614P Q9NZT2 OGFR_HUMAN opioid growth factor receptor 614 7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK]. regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) GGGACGAGCCAGCCGAGAGCC 0.756000 7 152 0 0 1 0 0 PASK 23178 broad.mit.edu 37 2 242066535 242066535 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:242066535C>T ENST00000403638.3 - 10 1886 c.1795G>A c.(1795-1797)Ggt>Agt p.G599S PASK_ENST00000544142.1_Missense_Mutation_p.G413S|PASK_ENST00000358649.4_Missense_Mutation_p.G599S|PASK_ENST00000539818.1_Missense_Mutation_p.G383S|PASK_ENST00000234040.4_Missense_Mutation_p.G599S|PASK_ENST00000405260.1_Missense_Mutation_p.G599S NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 599 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GCCAGCTGACCCTTGGCCTGG 0.667000 48 498 0 0 1 0 0 AP005901.1 0 broad.mit.edu 37 18 15323340 15323340 + RNA SNP A A G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr18:15323340A>G ENST00000455308.2 - 0 508 NR_027417.1 CTTATGGCCAATAAAAGTGGT 0.299000 5 62 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42862961 42862961 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:42862961G>A ENST00000334370.4 + 29 5632 c.4997G>A c.(4996-4998)cGt>cAt p.R1666H MEGF8_ENST00000251268.6_Missense_Mutation_p.R1733H NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1733 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) AGGAATGTGCGTGGCTCATCT 0.612000 20 68 0 0 1 0 0 FAM120C 54954 broad.mit.edu 37 X 54099471 54099471 + Missense_Mutation SNP C C A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chrX:54099471C>A ENST00000375180.2 - 16 3342 c.3286G>T c.(3286-3288)Gac>Tac p.D1096Y FAM120C_ENST00000328235.4_3'UTR NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 1096 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GCTTATCAGTCCTCTTTCCGT 0.418000 231 816 8.35633e-98 9.07258e-98 1 1 0 NACA 4666 broad.mit.edu 37 12 57111912 57111912 + Silent SNP G G A rs2926744 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr12:57111912G>A ENST00000454682.1 - 3 3683 c.3402C>T c.(3400-3402)ccC>ccT p.P1134P NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 5 753 0 0 1 0 0 C2 717 broad.mit.edu 37 6 31901955 31901955 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr6:31901955G>A ENST00000299367.5 + 6 1004 c.728G>A c.(727-729)cGt>cAt p.R243H C2_ENST00000418949.2_Missense_Mutation_p.R243H|C2_ENST00000442278.2_Missense_Mutation_p.R111H|C2_ENST00000469372.1_Intron|CFB_ENST00000477310.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000452323.2_Intron|CFB_ENST00000456570.1_Intron NM_000063.4 NP_000054.2 complement component 2 haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 27 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) AGCCTGGGCCGTAAAATCCAA 0.547000 7 1076 0 0 1 0 0 NQO1 1728 broad.mit.edu 37 16 69752046 69752046 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr16:69752046C>T ENST00000320623.5 - 3 794 c.283G>A c.(283-285)Gca>Aca p.A95T NQO1_ENST00000561500.1_Missense_Mutation_p.A95T|NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000379047.3_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T NM_000903.2 NP_000894.1 P15559 NQO1_HUMAN NAD(P)H dehydrogenase, quinone 1 95 nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process cytosol coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 10 Dicumarol(DB00266)|Menadione(DB00170) ACAAGGTCTGCGGCTTCCAGC 0.488000 6 992 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78343322 78343322 + Missense_Mutation SNP C C T rs142466553 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:78343322C>T ENST00000582970.1 + 45 12319 c.12176C>T c.(12175-12177)gCc>gTc p.A4059V RNF213_ENST00000336301.6_Missense_Mutation_p.A2132V|RNF213_ENST00000508628.2_Missense_Mutation_p.A4108V|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GAAAAGCATGCCCGCTTCCGG 0.498000 5 659 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43828154 43828154 + Silent SNP T T C rs140150445 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr9:43828154T>C ENST00000377564.3 + 9 1803 c.1410T>C c.(1408-1410)gaT>gaC p.D470D NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 470 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 TGGTGGTGGATGATGACACAG 0.488000 7 137 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47309258 47309258 + Nonsense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr20:47309258G>A ENST00000396220.1 - 8 1010 c.988C>T c.(988-990)Cga>Tga p.R330* PREX1_ENST00000371941.3_Nonsense_Mutation_p.R330* Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 330 PH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GTGTTGATTCGACCCCTGAAG 0.577000 95 358 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V 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) 27 110 4.87955e-14 5.23372e-14 1 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) 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) ACTGGACGCAGGcagcagcag 0.657000 4 98 0 0 1 0 0 NBPF15 284565 broad.mit.edu 37 1 148594439 148594439 + Silent SNP A A G rs146739148 byFrequency TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:148594439A>G ENST00000442702.2 + 21 2879 c.1812A>G c.(1810-1812)ttA>ttG p.L604L NBPF15_ENST00000369187.3_Silent_p.L604L NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 604 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) CTGAAGTCTTACAGGACTCAC 0.463000 7 995 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262015 39262015 + Silent SNP T T C rs140170009 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:39262015T>C ENST00000391415.1 + 1 432 c.375T>C c.(373-375)tgT>tgC p.C125C NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 125 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 ccagctgctgtcgccccagct 0.662000 9 221 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64594614 64594614 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr11:64594614G>A ENST00000342711.5 - 34 4296 c.4297C>T c.(4297-4299)Cgc>Tgc p.R1433C NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1433 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 AGCTTGGAGCGCACAAAAGGG 0.652000 7 698 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72657657 72657657 + RNA SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:72657657C>T ENST00000425256.1 - 0 2254 NR_002164.1 ttctggaattcggtcttgagt 0.488000 6 673 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117099578 117099578 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr9:117099578G>A ENST00000307564.4 - 22 4237 c.4076C>T c.(4075-4077)gCg>gTg p.A1359V AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.A1278V|AKNA_ENST00000223791.3_Missense_Mutation_p.A819V|AKNA_ENST00000374079.4_Missense_Mutation_p.A304V|AKNA_ENST00000374088.3_Missense_Mutation_p.A1359V NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 TCCTGCAGGCGCATAGTACCT 0.637000 5 447 0 0 1 0 0 ASL 435 broad.mit.edu 37 7 65557066 65557066 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:65557066G>A ENST00000304874.9 + 15 1238 c.1136G>A c.(1135-1137)cGc>cAc p.R379H ASL_ENST00000395332.3_Missense_Mutation_p.R379H|ASL_ENST00000395331.3_Missense_Mutation_p.R359H|AC068533.7_ENST00000450043.1_Silent_p.P147P|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Missense_Mutation_p.R353H NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 379 R -> C (in ARGINSA; dbSNP:rs28940287). arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity p.R379L(1) breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) TACCTGGTCCGCAAAGGGGTA 0.637000 6 697 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77354692 77354692 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr9:77354692G>A ENST00000451710.3 - 33 5683 c.5446C>T c.(5446-5448)Cgg>Tgg p.R1816W TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1812 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TGCCATGTCCGCACAACCTCA 0.488000 8 664 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371685 109371685 + Missense_Mutation SNP A A T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:109371685A>T ENST00000283195.6 + 17 2562 c.2436A>T c.(2434-2436)aaA>aaT p.K812N NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 812 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CTTTACTGAAAATGATTTGCC 0.348000 10 1102 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000536727.1_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 6 362 5.9392e-07 6.1954e-07 1 1 0 IGHV1OR15-9 0 broad.mit.edu 37 15 20170018 20170018 + RNA SNP C C G rs140304162 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr15:20170018C>G ENST00000338912.5 - 0 253 p.G85A(1) GGTGACTCTGCCCTGGAACTT 0.547000 5 788 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248023988 248023988 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:248023988G>A ENST00000366481.3 + 2 538 c.490G>A c.(490-492)Gtg>Atg p.V164M NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 164 intracellular zinc ion binding p.V164L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGAGGCCAACGTGGGGAAAAA 0.478000 57 197 0 0 1 0 0 FURIN 5045 broad.mit.edu 37 15 91420170 91420170 + Silent SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr15:91420170G>A ENST00000268171.3 + 5 696 c.417G>A c.(415-417)gcG>gcA p.A139A NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 139 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CGGCCTGGGCGCAGGGCTACA 0.567000 5 618 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21011731 21011731 + Missense_Mutation SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr16:21011731C>T ENST00000261383.3 - 43 6235 c.6236G>A c.(6235-6237)gGc>gAc p.G2079D DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2079 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GGCTGATTTGCCAGTGCCTGT 0.498000 5 356 0 0 1 0 0 FGF7 2252 broad.mit.edu 37 15 49776611 49776611 + Silent SNP T T G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr15:49776611T>G ENST00000267843.4 + 4 1106 c.495T>G c.(493-495)gtT>gtG p.V165V FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron NM_002009.3 NP_002000.1 P21781 FGF7_HUMAN fibroblast growth factor 7 165 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity p.V165V(1) kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) AAATGTTTGTTGCCTTAAATC 0.358000 8 292 0 0 1 0 0 C9orf139 401563 broad.mit.edu 37 9 139929395 139929395 + Silent SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr9:139929395C>T ENST00000314330.2 + 3 1976 c.462C>T c.(460-462)tgC>tgT p.C154C NM_207511.1 NP_997394.1 Q6ZV77 CI139_HUMAN chromosome 9 open reading frame 139 154 cervix(1)|lung(2) 3 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493) GGGGGTTTTGCCCAGAAATGG 0.622000 5 535 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522727 95522727 + RNA SNP C C A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:95522727C>A ENST00000432432.2 - 0 300 NR_040113.1 p.R64L(2) CTGCTTGTCCCGGGCGTCCAG 0.731000 7 240 7.93312e-07 8.24301e-07 1 1 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 6 338 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161167857 161167857 + Silent SNP G G T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:161167857G>T ENST00000367996.4 - 1 989 c.561C>A c.(559-561)gcC>gcA p.A187A ADAMTS4_ENST00000367995.3_Silent_p.A187A NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 187 proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CTTGACCGCTGGCAGGACTCT 0.632000 117 396 3.68091e-61 3.98017e-61 1 1 0 C1QTNF7 114905 broad.mit.edu 37 4 15444203 15444203 + Missense_Mutation SNP G G A rs150953206 byFrequency TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr4:15444203G>A ENST00000295297.4 + 3 930 c.671G>A c.(670-672)cGg>cAg p.R224Q C1QTNF7_ENST00000429690.1_Missense_Mutation_p.R217Q|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.R217Q NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 217 C1q. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 GGGCAATACCGGATAAAGACC 0.458000 6 835 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5416153 5416153 + Silent SNP C C T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr18:5416153C>T ENST00000341928.2 - 13 2071 c.1731G>A c.(1729-1731)caG>caA p.Q577Q EPB41L3_ENST00000342933.3_Silent_p.Q577Q|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000427684.2_Intron NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 577 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 TGCCAGTTTGCTGTCTGTAGC 0.572000 6 531 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75684712 75684712 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr15:75684712G>A ENST00000394947.3 - 15 3036 c.2722C>T c.(2722-2724)Cgg>Tgg p.R908W SIN3A_ENST00000394949.4_Missense_Mutation_p.R908W|SIN3A_ENST00000360439.4_Missense_Mutation_p.R908W NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 908 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 GAACAAATCCGTAGCAGCCTC 0.453000 5 654 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152278047 152278047 + Silent SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:152278047G>A ENST00000368799.1 - 3 9350 c.9315C>T c.(9313-9315)taC>taT p.Y3105Y FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3105 Ser-rich. Y -> D (in dbSNP:rs2065958). keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCCTGACCGTATTGGGATG 0.602000 Ichthyosis 7 1212 0 0 1 0 0 ARHGEF7 8874 broad.mit.edu 37 13 111862267 111862267 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr13:111862267G>A ENST00000375741.2 + 5 699 c.449G>A c.(448-450)cGc>cAc p.R150H ARHGEF7_ENST00000218789.5_5'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.R129H|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.R47H|ARHGEF7_ENST00000426073.2_5'UTR|ARHGEF7_ENST00000370623.3_Intron|ARHGEF7_ENST00000375723.1_5'UTR|ARHGEF7_ENST00000375736.4_5'UTR|ARHGEF7_ENST00000544132.1_Intron|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.R100H NM_001113511.1|NM_145735.2 NP_001106983.1|NP_663788.1 Q14155 ARHG7_HUMAN Rho guanine nucleotide exchange factor (GEF) 7 150 apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 41 all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.188) TCGTCTCACCGCATAAAGTCT 0.517000 10 1188 0 0 1 0 0 KRTAP1-1 81851 broad.mit.edu 37 17 39197304 39197304 + Missense_Mutation SNP T T C TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:39197304T>C ENST00000306271.4 - 1 409 c.346A>G c.(346-348)Atc>Gtc p.I116V NM_030967.2 NP_112229.1 Q07627 KRA11_HUMAN keratin associated protein 1-1 116 extracellular region|keratin filament p.I116V(1) NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1) 14 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CACCACCTGATACGGGTGCTC 0.662000 5 221 0 0 1 0 0 PRKAG3 53632 broad.mit.edu 37 2 219691687 219691687 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:219691687G>A ENST00000439262.2 - 10 1152 c.1057C>T c.(1057-1059)Cgg>Tgg p.R353W PRKAG3_ENST00000545803.1_Missense_Mutation_p.R194W|PRKAG3_ENST00000392098.3_3'UTR|PRKAG3_ENST00000529249.1_Missense_Mutation_p.R378W NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 378 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GACACACGCCGGTCCACAAAG 0.602000 5 516 0 0 1 0 0 TPTE2P6 0 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 19 284 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 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 6 130 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29614328 29614328 + Splice_Site SNP G G A rs137860963 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr20:29614328G>A ENST00000278882.3 + 2 320 c.e2+1 FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGATACGTTGGTGAGTCAGTT 0.289000 4 154 0 0 1 0 0 LYG1 129530 broad.mit.edu 37 2 99907775 99907775 + Silent SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:99907775G>A ENST00000409448.1 - 6 574 c.258C>T c.(256-258)atC>atT p.I86I LYG1_ENST00000308528.4_Silent_p.I86I Q8N1E2 LYG1_HUMAN lysozyme G-like 1 86 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity endometrium(2)|kidney(1)|large_intestine(3)|lung(1) 7 AGACACCAGCGATCACGGCAG 0.488000 98 296 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) 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) tgctgctactgctgctgctgc 0.527000 T MLL ALL 7 315 0 0 1 0 0 ZNF610 162963 broad.mit.edu 37 19 52869863 52869863 + Missense_Mutation SNP G G A rs150692972 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:52869863G>A ENST00000601151.1 + 5 1555 c.1103G>A c.(1102-1104)cGc>cAc p.R368H ZNF610_ENST00000321287.8_Missense_Mutation_p.R411H|ZNF610_ENST00000403906.3_Missense_Mutation_p.R411H|ZNF610_ENST00000327920.8_Missense_Mutation_p.R411H NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 411 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) GTCTTTGGGCGCAAATTATAC 0.423000 5 419 0 0 1 0 0 ASB2 51676 broad.mit.edu 37 14 94417346 94417346 + Splice_Site SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr14:94417346G>A ENST00000555019.1 - 6 1309 c.880_splice c.e6+1 p.Y293_splice ASB2_ENST00000315988.4_Splice_Site_p.Y245_splice|ASB2_ENST00000556337.1_Intron NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 245 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) GCCACTCACCGTACTTGGCTA 0.577000 8 1504 0 0 1 0 0 ATXN10 25814 broad.mit.edu 37 22 46098600 46098600 + Missense_Mutation SNP G G A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr22:46098600G>A ENST00000252934.5 + 5 785 c.520G>A c.(520-522)Gtt>Att p.V174I ATXN10_ENST00000498009.1_3'UTR|ATXN10_ENST00000381061.4_Missense_Mutation_p.V110I NM_013236.3 NP_037368.1 Q9UBB4 ATX10_HUMAN ataxin 10 174 cell death|neuron projection development dendrite|neuronal cell body|perinuclear region of cytoplasm central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 10 Ovarian(80;0.00973)|all_neural(38;0.0417) UCEC - Uterine corpus endometrioid carcinoma (28;0.0223) CAAAAAAATTGTTGCCTACTC 0.323000 94 273 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 11 378 --- --- --- --- CNKSR1 10256 broad.mit.edu 37 1 26514778 26514778 + Frame_Shift_Del DEL C C - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:26514778delC ENST00000531191.1 + 16 1741 c.734delC c.(733-735)gcfs p.A245fs CNKSR1_ENST00000361530.6_Frame_Shift_Del_p.A503fs|CNKSR1_ENST00000374253.5_Frame_Shift_Del_p.A510fs Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 510 PDZ. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGCCGGGCCCCCCCACCC 0.607 7 391 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 12 1079 --- --- --- --- BRDT 676 broad.mit.edu 37 1 92447228 92447230 + In_Frame_Del DEL AGC AGC - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:92447228_92447230delAGC ENST00000370389.2 + 12 2623_2625 c.1699_1701delAGC c.(1699-1701)del p.S575del BRDT_ENST00000402388.1_In_Frame_Del_p.S648del|BRDT_ENST00000362005.3_In_Frame_Del_p.S648del|BRDT_ENST00000399546.2_In_Frame_Del_p.S648del|BRDT_ENST00000394530.3_In_Frame_Del_p.S602del NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 648 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) ACTGAGTGAGagcagcagcagca 0.419 8 342 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 17 196 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142720897 142720898 + RNA INS - - A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:142720897_142720898insA ENST00000595144.1 - 0 204_205 GCTCTTCCTCTAAGCCACTGGT 0.277 20 120 --- --- --- --- RP11-782C8.1 0 broad.mit.edu 37 1 143217265 143217266 + RNA INS - - A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:143217265_143217266insA ENST00000438000.1 + 0 59 GTTAGTAAAGCAAAAAAAAAAC 0.282 10 49 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145109975 145109976 + RNA INS - - C rs67257307 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:145109975_145109976insC ENST00000453618.1 + 0 673 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGGAACTTTGCTAAAGATCTA 0.386 6 13 --- --- --- --- ANKRD35 148741 broad.mit.edu 37 1 145562117 145562117 + Frame_Shift_Del DEL A A - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:145562117delA ENST00000355594.4 + 10 1892 c.1805delA c.(1804-1806)gafs p.E602fs NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 602 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTTGGAGGGGAAAAGGCCCTA 0.577 7 533 --- --- --- --- LINGO4 339398 broad.mit.edu 37 1 151773603 151773603 + Frame_Shift_Del DEL A A - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 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 12 1203 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154842199 154842200 + In_Frame_Ins INS - - GCTGCT rs58327065 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:154842199_154842200insGCTGCT ENST00000271915.3 - 1 556_557 c.241_242insAGCAGC c.(241-243)acc>AGCAGCacc p.80_81insSS NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 80 Poly-Gln. integral to membrane calmodulin binding p.Q80_P81insQQ(2) cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GGGATGCGGTGgctgctgctgc 0.698 12 49 --- --- --- --- NES 10763 broad.mit.edu 37 1 156642804 156642804 + Frame_Shift_Del DEL G G - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:156642804delG ENST00000368223.3 - 4 1308 c.1176delC c.(1174-1176)ccfs p.P392fs NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 392 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTGAGGTGTGGGGGGGATGG 0.597 7 1416 --- --- --- --- GPR25 2848 broad.mit.edu 37 1 200842776 200842778 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr1:200842776_200842778delTGC ENST00000304244.2 + 1 694_696 c.611_613delTGC c.(610-615)ttg>t p.LL208del NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 208 Poly-Leu. integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 GGCCTCAGCTTGCTGCTGCTGCT 0.724 8 170 --- --- --- --- CPSF3 51692 broad.mit.edu 37 2 9595887 9595888 + Splice_Site DEL GT GT - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:9595887_9595888delGT ENST00000460593.1 + 13 2630 c.e13+1 CPSF3_ENST00000238112.3_Splice_Site Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) AAATTGACAGGTGTGTGTGTGT 0.366 7 304 --- --- --- --- OTOF 9381 broad.mit.edu 37 2 26693554 26693556 + In_Frame_Del DEL CTT CTT - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:26693554_26693556delCTT ENST00000272371.2 - 32 4054_4056 c.3928_3930delAAG c.(3928-3930)del p.K1310del OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1310 Poly-Lys. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCAGTGCCcttcttcttcttc 0.576 10 486 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CATTTTGTCTTCCTCCTCCTCCT 0.542 9 973 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61575023 61575025 + In_Frame_Del DEL TGG TGG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 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 8 404 --- --- --- --- DYSF 8291 broad.mit.edu 37 2 71801420 71801422 + In_Frame_Del DEL CCG CCG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:71801420_71801422delCCG ENST00000258104.3 + 30 3544_3546 c.3267_3269delCCG c.(3265-3270)ttc>tt p.FR1089del DYSF_ENST00000429174.2_In_Frame_Del_p.FR1089del|DYSF_ENST00000409582.3_In_Frame_Del_p.FR1106del|DYSF_ENST00000394120.2_In_Frame_Del_p.FR1090del|DYSF_ENST00000409651.1_In_Frame_Del_p.FR1121del|DYSF_ENST00000410020.3_In_Frame_Del_p.FR1107del|DYSF_ENST00000410041.1_In_Frame_Del_p.FR1107del|DYSF_ENST00000409762.1_In_Frame_Del_p.FR1106del|DYSF_ENST00000409744.1_In_Frame_Del_p.FR1076del|DYSF_ENST00000409366.1_In_Frame_Del_p.FR1090del|DYSF_ENST00000413539.2_In_Frame_Del_p.FR1120del NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1089 Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CAGATGCCTTCCGCCGCCGCCGC 0.655 10 1067 --- --- --- --- SLC4A5 57835 broad.mit.edu 37 2 74479414 74479416 + In_Frame_Del DEL CCA CCA - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:74479414_74479416delCCA ENST00000394019.2 - 16 1765_1767 c.1368_1370delTGG c.(1366-1371)ggc>gg p.GG456del SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000357822.5_In_Frame_Del_p.GG456del|SLC4A5_ENST00000359484.4_In_Frame_Del_p.GG392del|SLC4A5_ENST00000377634.4_In_Frame_Del_p.GG456del|SLC4A5_ENST00000346834.4_In_Frame_Del_p.GG456del|SLC4A5_ENST00000358683.4_In_Frame_Del_p.GG392del|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000423644.1_In_Frame_Del_p.GG456del|SLC4A5_ENST00000377632.1_In_Frame_Del_p.GG456del NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 456 Gly-rich. apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 gccgccactgccaccaccaccac 0.635 8 317 --- --- --- --- IGKV1D-8 0 broad.mit.edu 37 2 90259860 90259861 + RNA INS - - C TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:90259860_90259861insC ENST00000471857.1 + 0 236 AATTTACTCAGCCAATGTGCTC 0.480 14 816 --- --- --- --- SLC9A4 389015 broad.mit.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:103149137delA ENST00000295269.4 + 12 2844 c.2387delA c.(2386-2388)cafs p.Q796fs NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 796 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CCTTTGCTCCAAAAAAAATAG 0.473 9 256 --- --- --- --- RANBP2 5903 broad.mit.edu 37 2 109382805 109382805 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:109382805delT ENST00000283195.6 + 20 5936 c.5810delT c.(5809-5811)atfs p.I1937fs NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1937 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CGTGGTGTGATTTTTGGCCAA 0.413 7 1804 --- --- --- --- SLC20A1 6574 broad.mit.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:113416607_113416608delAG ENST00000272542.3 + 7 1523_1524 c.984_985delAG c.(982-987)ccagfs p.PE328fs SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 328 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity p.R332fs*14(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 AGGAAGCTCCAGAGAGAGAGAG 0.515 11 501 --- --- --- --- PLA2R1 0 broad.mit.edu 37 2 160801442 160801442 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:160801442delT ENST00000283243.7 - 28 4325 c.4119delA c.(4117-4119)aafs p.K1373fs PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1373 C-type lectin 8. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 ATATAAAGCCTTTTTTTTCTT 0.403 8 890 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168104998 168105000 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:168104998_168105000delCCT ENST00000409195.1 + 9 7185_7187 c.7096_7098delCCT c.(7096-7098)del p.P2370del XIRP2_ENST00000409273.1_In_Frame_Del_p.P2148del|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_In_Frame_Del_p.P2370del NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2195 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GTTTCTGCCGCCTCCTCCTCCTC 0.468 8 728 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196788373 196788374 + Frame_Shift_Ins INS - - T rs34468832 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:196788373_196788374insT ENST00000312428.6 - 23 3870_3871 c.3770_3771insA c.(3769-3771)aatfs p.N1257fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1257 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CATCGCTAATATTTTTTTTTAC 0.421 7 416 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000328737.2_Intron Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 811 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.411 11 96 --- --- --- --- SGOL2 151246 broad.mit.edu 37 2 201437003 201437004 + Frame_Shift_Ins INS - - T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:201437003_201437004insT ENST00000357799.4 + 7 2032_2033 c.1934_1935insT c.(1933-1935)attfs p.I645fs NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 645 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AAAAAAGGTAATTTTTTTTTCA 0.337 9 652 --- --- --- --- SLC11A1 6556 broad.mit.edu 37 2 219252307 219252307 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:219252307delT ENST00000233202.6 + 7 931 c.591delT c.(589-591)gcfs p.A197fs SLC11A1_ENST00000539932.1_Frame_Shift_Del_p.A79fs NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 197 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTGGAAGCTTTTTTTGGAC 0.448 8 2117 --- --- --- --- IRS1 3667 broad.mit.edu 37 2 227660808 227660810 + In_Frame_Del DEL GCT GCT - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:227660808_227660810delGCT ENST00000305123.4 - 1 3665_3667 c.2645_2647delAGC c.(2644-2649)ccc>c p.QP882del NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 882 Poly-Gln. fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) TGCAGCAAGGgctgctgctgctg 0.626 11 456 --- --- --- --- TRPM8 79054 broad.mit.edu 37 2 234879010 234879010 + Frame_Shift_Del DEL C C - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr2:234879010delC ENST00000324695.4 + 17 2335 c.2295delC c.(2293-2295)cafs p.H765fs TRPM8_ENST00000433712.2_Intron NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 765 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CGGTGCCACACCCCCCCGAGC 0.577 11 1850 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 7 16 --- --- --- --- CACNA1D 776 broad.mit.edu 37 3 53529193 53529195 + Translation_Start_Site DEL GAT GAT - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr3:53529193_53529195delGAT ENST00000288139.3 + 0 118_120 CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) aatgttcgtGgatgatgatgatg 0.581 9 519 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 9 1105 --- --- --- --- KIAA2018 205717 broad.mit.edu 37 3 113380090 113380090 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr3:113380090delT ENST00000316407.4 - 7 849 c.439delA c.(439-441)ttfs p.I148fs KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 148 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TAAACAATAATTTTTTTTTGA 0.373 8 630 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr3:129546680_129546682delGCA ENST00000393238.3 - 3 880_882 c.540_542delTGC c.(538-543)gca>gc p.AA180del TMCC1_ENST00000426664.2_In_Frame_Del_p.AA66del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 180 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 TGGTAGACATgcagcagcagcag 0.483 9 284 --- --- --- --- PBX2P1 0 broad.mit.edu 37 3 142895210 142895211 + RNA INS - - G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr3:142895210_142895211insG ENST00000560287.1 + 0 84_85 AGGCGGGGCCCGGGGGGGGCCT 0.762 7 98 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 8 468 --- --- --- --- ABCC5 10057 broad.mit.edu 37 3 183665257 183665257 + Frame_Shift_Del DEL A A - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr3:183665257delA ENST00000334444.6 - 23 3509 c.3269delT c.(3268-3270)tgfs p.L1090fs ABCC5_ENST00000265586.6_Frame_Shift_Del_p.L1047fs NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 1090 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ACACGTAAACAAAAAAAAAGG 0.532 8 154 --- --- --- --- YTHDC1 91746 broad.mit.edu 37 4 69202891 69202893 + In_Frame_Del DEL TCC TCC - rs141105019 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr4:69202891_69202893delTCC ENST00000344157.4 - 4 1070_1072 c.735_737delGGA c.(733-738)gaa>ga p.EE247del YTHDC1_ENST00000355665.3_In_Frame_Del_p.EE247del|YTHDC1_ENST00000579690.1_In_Frame_Del_p.EE247del NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 247 Glu-rich. p.E245E(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 ttcttcttcttcctcctcctcct 0.473 9 288 --- --- --- --- CCDC158 339965 broad.mit.edu 37 4 77305357 77305357 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr4:77305357delT ENST00000388914.3 - 5 762 c.610delA c.(610-612)tafs p.I204fs CCDC158_ENST00000434846.2_Frame_Shift_Del_p.I204fs NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 204 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 TGTTCACATATTTTTTTGCCT 0.393 10 653 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr4:81123250_81123252delCAG ENST00000339711.4 + 10 1865_1867 c.634_636delCAG c.(634-636)del p.Q217del PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 217 Gly-rich.|Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 tggcaaagaccagcagcagcagc 0.655 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 377 --- --- --- --- NPNT 255743 broad.mit.edu 37 4 106863682 106863684 + In_Frame_Del DEL CCA CCA - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr4:106863682_106863684delCCA ENST00000379987.2 + 8 1198_1200 c.982_984delCCA c.(982-984)del p.P333del NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 333 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AATTCCTACTCCACCACCACCAC 0.522 8 551 --- --- --- --- ADAD1 132612 broad.mit.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr4:123302211delA ENST00000296513.2 + 4 422 c.237delA c.(235-237)ccfs p.P79fs ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000492454.1_3'UTR NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 79 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCCTTCCTCCAAAAAAAATAC 0.358 9 441 --- --- --- --- CLCN3 0 broad.mit.edu 37 4 170618538 170618538 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr4:170618538delT ENST00000513761.1 + 9 1775 c.1216delT c.(1216-1218)ttfs p.F407fs CLCN3_ENST00000347613.4_Frame_Shift_Del_p.F407fs|CLCN3_ENST00000360642.3_Frame_Shift_Del_p.F380fs|CLCN3_ENST00000504131.2_Frame_Shift_Del_p.F390fs NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 407 endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) TTGGGGAGCCTTTTTCATTAG 0.438 8 910 --- --- --- --- CDC25C 995 broad.mit.edu 37 5 137627690 137627690 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr5:137627690delT ENST00000323760.6 - 8 1009 c.731delA c.(730-732)agfs p.K244fs CDC25C_ENST00000415130.2_Frame_Shift_Del_p.K171fs|CDC25C_ENST00000513970.1_Frame_Shift_Del_p.K244fs|CDC25C_ENST00000514555.1_Frame_Shift_Del_p.K214fs|CDC25C_ENST00000356505.3_Frame_Shift_Del_p.K214fs|CDC25C_ENST00000348983.3_Frame_Shift_Del_p.K171fs|CDC25C_ENST00000357274.3_Frame_Shift_Del_p.K201fs NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 244 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) AGAAAAATACTTTTTTTTAAC 0.388 7 673 --- --- --- --- TIGD6 81789 broad.mit.edu 37 5 149375600 149375600 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr5:149375600delT ENST00000296736.3 - 2 1086 c.312delA c.(310-312)aafs p.K104fs TIGD6_ENST00000515406.2_Frame_Shift_Del_p.K104fs NM_030953.3 NP_112215.1 Q17RP2 TIGD6_HUMAN tigger transposable element derived 6 104 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) AGTTTAGTGCTTTTTTCCGAA 0.423 7 1418 --- --- --- --- EHMT2 10919 broad.mit.edu 37 6 31857309 31857311 + In_Frame_Del DEL TCT TCT - rs138941874 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr6:31857309_31857311delTCT ENST00000395728.3 - 7 1103_1105 c.1104_1106delAGA c.(1102-1107)gag>ga p.EE378del EHMT2_ENST00000375530.4_In_Frame_Del_p.EE321del|EHMT2_ENST00000375537.4_In_Frame_Del_p.EE321del|EHMT2_ENST00000375528.4_In_Frame_Del_p.EE378del|EHMT2_ENST00000480912.1_5'UTR Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 321 DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 21 ctcctcttcctcttcttcttctt 0.493 9 648 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 10 1246 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32521865 32521866 + RNA INS - - G rs113644246 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr6:32521865_32521866insG ENST00000411500.1 - 0 740 NR_001298.1 CTAAAATAACTATTTTTTCTGG 0.322 6 13 --- --- --- --- HSP90AB1 3326 broad.mit.edu 37 6 44221052 44221052 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr6:44221052delT ENST00000371554.1 + 11 2216 c.2002delT c.(2002-2004)ttfs p.F668fs HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F668fs|HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F668fs P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 668 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) ATCTTCTGGCTTTTCCCTTGA 0.527 8 3195 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 9 451 --- --- --- --- SYNCRIP 10492 broad.mit.edu 37 6 86332353 86332354 + Frame_Shift_Ins INS - - T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr6:86332353_86332354insT ENST00000355238.6 - 8 1060_1061 c.854_855insA c.(853-855)aagfs p.K285fs SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1 NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA interacting protein 285 RRM 2. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) AAAAGCCTCTGTTTTTTTTCTT 0.411 8 757 --- --- --- --- EPB41L2 2037 broad.mit.edu 37 6 131191073 131191075 + In_Frame_Del DEL CTG CTG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr6:131191073_131191075delCTG ENST00000337057.3 - 15 2416_2418 c.2235_2237delCAG c.(2233-2238)agt>ag p.SS745del EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000528282.1_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 745 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTCACTCTCACTGCTGCTGCTGC 0.562 11 485 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 11 193 --- --- --- --- PURB 5814 broad.mit.edu 37 7 44924131 44924131 + Frame_Shift_Del DEL A A - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:44924131delA ENST00000395699.2 - 1 829 c.817delT c.(817-819)gcfs p.C273fs NM_033224.3 NP_150093.1 Q96QR8 PURB_HUMAN purine-rich element binding protein B 273 regulation of myeloid cell differentiation DNA replication factor A complex mRNA binding|single-stranded DNA binding|transcription factor binding large_intestine(2)|lung(3)|prostate(1)|skin(1) 7 GCATACCGGCAAAAGGCGCCT 0.582 7 1076 --- --- --- --- VKORC1L1 154807 broad.mit.edu 37 7 65419353 65419354 + In_Frame_Ins INS - - TTA rs71982071 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:65419353_65419354insTTA ENST00000434382.2 + 2 490_491 c.487_488insTTA c.(487-489)tat>TTAtat p.162_163insL VKORC1L1_ENST00000360768.3_3'UTR Q8N0U8 VKORL_HUMAN vitamin K epoxide reductase complex, subunit 1-like 1 0 integral to membrane large_intestine(1)|prostate(1) 2 Lung NSC(55;0.197) Menadione(DB00170)|Warfarin(DB00682) GCAGCAGGTTTttattattatt 0.416 9 68 --- --- --- --- ACTL6B 51412 broad.mit.edu 37 7 100245130 100245131 + Frame_Shift_Ins INS - - G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:100245130_100245131insG ENST00000160382.5 - 8 801_802 c.695_696insC c.(694-696)caafs p.Q232fs NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 232 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TCTTCCAGTTTGGGGGGGCACC 0.609 7 675 --- --- --- --- SRPK2 6733 broad.mit.edu 37 7 104844170 104844172 + In_Frame_Del DEL GGT GGT - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:104844170_104844172delGGT ENST00000357311.3 - 2 270_272 c.99_101delACC c.(97-102)ccg>cc p.PP35del SRPK2_ENST00000489828.1_In_Frame_Del_p.PP35del|SRPK2_ENST00000393651.3_In_Frame_Del_p.PP46del NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 35 angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.P33P(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 CAAAggtggcggtggtggtggtg 0.552 7 179 --- --- --- --- OR9A4 130075 broad.mit.edu 37 7 141619203 141619203 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:141619203delT ENST00000548136.1 + 1 587 c.528delT c.(526-528)aafs p.N176fs MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TGGTGAACAATTTTTTTTGTG 0.383 8 761 --- --- --- --- TRBV7-4 0 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 12 286 --- --- --- --- WDR60 55112 broad.mit.edu 37 7 158704353 158704353 + Frame_Shift_Del DEL A A - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr7:158704353delA ENST00000407559.3 + 12 1731 c.1573delA c.(1573-1575)aafs p.K526fs NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 526 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) AAACTTTGGGAAAAAAAATAC 0.328 7 337 --- --- --- --- MCPH1 79648 broad.mit.edu 37 8 6289099 6289099 + Frame_Shift_Del DEL A A - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr8:6289099delA ENST00000344683.5 + 4 389 c.313delA c.(313-315)aafs p.K107fs MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 107 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) AAGCCTAATTAAAAAAAAAGT 0.274 13 439 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 8 2054 --- --- --- --- KIF24 347240 broad.mit.edu 37 9 34257623 34257623 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr9:34257623delT ENST00000379166.2 - 11 2101 c.1982delA c.(1981-1983)agfs p.K661fs KIF24_ENST00000379174.3_Frame_Shift_Del_p.K527fs|KIF24_ENST00000402558.2_Frame_Shift_Del_p.K661fs|KIF24_ENST00000345050.2_Frame_Shift_Del_p.K527fs 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) CTCTTCTGGCTTTTTTTTGGC 0.527 8 382 --- --- --- --- FAM166B 730112 broad.mit.edu 37 9 35562393 35562394 + Frame_Shift_Ins INS - - TAGT rs142582869 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr9:35562393_35562394insTAGT ENST00000399742.2 - 5 792_793 c.722_723insACTA c.(721-723)tggfs p.W241fs FAM166B_ENST00000492890.1_5'UTR NM_001099951.2|NM_001164310.1 NP_001093421.1|NP_001157782.1 A8MTA8 F166B_HUMAN family with sequence similarity 166, member B 241 p.Y225fs*1(1) kidney(3)|large_intestine(1)|lung(4)|ovary(1) 9 CGTAGCCCCCATAGTTAGGTAA 0.564 11 41 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95277146 95277148 + In_Frame_Del DEL TCC TCC - rs137929518 byFrequency TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr9:95277146_95277148delTCC ENST00000344604.5 - 4 968_970 c.819_821delGGA c.(817-822)gat>ga p.ED273del ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 273 Poly-Glu. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 ctcctcctcatcctcctcctcct 0.606 12 693 --- --- --- --- AKNA 80709 broad.mit.edu 37 9 117122000 117122002 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr9:117122000_117122002delTCC ENST00000307564.4 - 11 2525_2527 c.2364_2366delGGA c.(2362-2367)gaa>ga p.EE788del AKNA_ENST00000374088.3_In_Frame_Del_p.EE788del|AKNA_ENST00000374075.5_In_Frame_Del_p.EE707del|AKNA_ENST00000223791.3_In_Frame_Del_p.EE248del|AKNA_ENST00000312033.3_In_Frame_Del_p.EE788del NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 788 PEST. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 TCccccctcttcctcctcctcct 0.596 8 452 --- --- --- --- WDR5 11091 broad.mit.edu 37 9 137019598 137019598 + Frame_Shift_Del DEL C C - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr9:137019598delC ENST00000358625.3 + 10 813 c.642delC c.(640-642)aafs p.N214fs WDR5_ENST00000425041.1_Frame_Shift_Del_p.N214fs NM_017588.2 NP_060058.1 P61964 WDR5_HUMAN WD repeat domain 5 214 histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 9 Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123) Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154) ATGACGACAACCCCCCCGTGT 0.627 12 1554 --- --- --- --- TUBBP5 0 broad.mit.edu 37 9 141070119 141070120 + RNA INS - - GG TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr9:141070119_141070120insGG ENST00000503395.1 + 0 1199_1200 p.S78S(1) TCTGTGCGCTCGGGGCCCTTCG 0.678 7 472 --- --- --- --- MYO3A 53904 broad.mit.edu 37 10 26462760 26462760 + Frame_Shift_Del DEL A A - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr10:26462760delA ENST00000265944.5 + 30 3733 c.3567delA c.(3565-3567)ccfs p.P1189fs MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1189 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity p.M1192fs*1(2) NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 ATCAGACTCCAAAAAAAATGA 0.403 8 290 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 7 822 --- --- --- --- DCHS1 8642 broad.mit.edu 37 11 6662142 6662142 + Frame_Shift_Del DEL G G - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr11:6662142delG ENST00000299441.3 - 2 1114 c.703delC c.(703-705)ggfs p.R236fs NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 236 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGCCCTCCGGGGGGGTGAA 0.587 7 909 --- --- --- --- SPON1 10418 broad.mit.edu 37 11 14276276 14276277 + RNA DEL GT GT - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr11:14276276_14276277delGT ENST00000310358.7 + 0 1627 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) GACCTATGAGGTGTGTGTGTGT 0.594 10 335 --- --- --- --- FAU 2197 broad.mit.edu 37 11 64888248 64888250 + In_Frame_Del DEL TCT TCT - rs1065065 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr11:64888248_64888250delTCT ENST00000529639.1 - 5 696_698 c.305_307delAGA c.(304-309)aca>a p.KT102del FAU_ENST00000279259.3_In_Frame_Del_p.ED83del|FAU_ENST00000529259.1_3'UTR|FAU_ENST00000531743.1_In_Frame_Del_p.KT102del|FAU_ENST00000525297.1_In_Frame_Del_p.KT67del|FAU_ENST00000527548.1_In_Frame_Del_p.KT102del NM_001997.4 NP_001988.1 P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 0 NS(3)|kidney(1)|large_intestine(2) 6 GCCCGACCTGTCTTCTTCTTCTT 0.542 20 854 --- --- --- --- TAF1D 79101 broad.mit.edu 37 11 93471452 93471453 + Frame_Shift_Ins INS - - T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr11:93471452_93471453insT ENST00000448108.2 - 3 931_932 c.281_282insA c.(280-282)aaafs p.K94fs NM_024116.3 NP_077021.1 Q9H5J8 TAF1D_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa 94 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding large_intestine(1)|lung(3)|prostate(1)|skin(2) 7 TCCTCTTTTTCTTTTTTTTATA 0.347 7 884 --- --- --- --- ACSM4 341392 broad.mit.edu 37 12 7456935 7456935 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr12:7456935delT ENST00000399422.4 + 1 56 c.8delT c.(7-9)atfs p.I3fs NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 3 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 ACCATGAAGATTTTTTTCCGC 0.473 8 1006 --- --- --- --- STRAP 11171 broad.mit.edu 37 12 16047015 16047015 + Frame_Shift_Del DEL A A - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr12:16047015delA ENST00000419869.2 + 5 751 c.438delA c.(436-438)atfs p.I146fs STRAP_ENST00000025399.6_Frame_Shift_Del_p.I159fs|STRAP_ENST00000538352.1_Frame_Shift_Del_p.I52fs NM_007178.3 NP_009109.3 Q9Y3F4 STRAP_HUMAN serine/threonine kinase receptor associated protein 146 mRNA processing|RNA splicing cell junction|mitochondrion|spliceosomal complex identical protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 15 Hepatocellular(102;0.121) CTTCTGGTATAAAAAAAGCTC 0.294 10 704 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46318575 46318577 + In_Frame_Del DEL GGT GGT - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr12:46318575_46318577delGGT ENST00000465950.1 - 2 4104_4106 c.2895_2897delACC c.(2893-2898)ccc>cc p.PP969del SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1284 Arg-rich. spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TGGGGGAGGGGGTGGTGGTGGTG 0.483 10 459 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56558379 56558381 + In_Frame_Del DEL AGG AGG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr12:56558379_56558381delAGG ENST00000550164.1 - 28 3381_3383 c.3367_3369delCCT c.(3367-3369)del p.P1123del SMARCC2_ENST00000394023.3_Intron|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|SMARCC2_ENST00000347471.4_Intron Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1092 Pro-rich. HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694). chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGGATGGAGCAGGAGGAGGAGGA 0.591 7 214 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148691 45148693 + In_Frame_Del DEL TGT TGT - rs148625973 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr13:45148691_45148693delTGT ENST00000458659.2 - 1 2008_2010 c.1518_1520delACA c.(1516-1521)cag>ca p.QQ508del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 508 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TGgttgttgctgttgttgttgtt 0.502 8 777 --- --- --- --- DIAPH3 81624 broad.mit.edu 37 13 60582733 60582734 + Frame_Shift_Ins INS - - T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr13:60582733_60582734insT ENST00000400324.4 - 9 1178_1179 c.958_959insA c.(958-960)tgafs p.*320fs DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 320 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AAATCTGTCAATTTTTTTTTCT 0.322 14 706 --- --- --- --- FBXL3 26224 broad.mit.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr13:77581683delA ENST00000355619.5 - 5 1208 c.884delT c.(883-885)tafs p.L295fs FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 295 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.L295fs*3(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTCTTCATATAAAAAAAAATA 0.418 10 377 --- --- --- --- KDELC1 79070 broad.mit.edu 37 13 103443722 103443722 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr13:103443722delT ENST00000376004.4 - 5 1067 c.731delA c.(730-732)agfs p.K245fs KDELC1_ENST00000460338.1_5'UTR NM_024089.2 NP_076994.2 Q6UW63 KDEL1_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 1 245 endoplasmic reticulum lumen central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ATTGGATTTCTTTTTTTCCAA 0.418 7 1616 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 7 647 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 11 813 --- --- --- --- PSMA6 5687 broad.mit.edu 37 14 35782216 35782216 + Frame_Shift_Del DEL A A - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr14:35782216delA ENST00000261479.4 + 5 659 c.539delA c.(538-540)gafs p.E180fs PSMA6_ENST00000556506.1_Frame_Shift_Del_p.E180fs|PSMA6_ENST00000555764.1_Frame_Shift_Del_p.E101fs|PSMA6_ENST00000553809.1_Frame_Shift_Del_p.E186fs|PSMA6_ENST00000540871.1_Frame_Shift_Del_p.E161fs|KIAA0391_ENST00000557565.1_3'UTR NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 180 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) AGCTTCCTTGAAAAAAAAGTG 0.403 8 837 --- --- --- --- FERMT2 10979 broad.mit.edu 37 14 53339633 53339633 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr14:53339633delT ENST00000395631.2 - 10 1373 c.1157delA c.(1156-1158)agfs p.K386fs FERMT2_ENST00000399304.3_Frame_Shift_Del_p.K386fs|FERMT2_ENST00000341590.3_Frame_Shift_Del_p.K386fs|FERMT2_ENST00000553373.1_Frame_Shift_Del_p.K386fs|FERMT2_ENST00000343279.4_Frame_Shift_Del_p.K386fs Q96AC1 FERM2_HUMAN fermitin family member 2 386 FERM.|PH. actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytosol|focal adhesion|stress fiber binding ERO1L/FERMT2(2) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Breast(41;0.0342) CAGAGTCAGCTTTTTTGGCCT 0.343 7 496 --- --- --- --- TMED10 10972 broad.mit.edu 37 14 75601711 75601712 + Splice_Site INS - - A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr14:75601711_75601712insA ENST00000303575.4 - 5 590 c.e5-2 TMED10_ENST00000557670.1_Splice_Site|RP11-950C14.7_ENST00000556236.1_RNA NM_006827.5 NP_006818.3 P49755 TMEDA_HUMAN transmembrane emp24-like trafficking protein 10 (yeast) protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane protein binding endometrium(1)|large_intestine(5)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(234;0.0126) TTGTTGACTCTAAAAAAAAACA 0.426 10 377 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397924 93397926 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr14:93397924_93397926delGAG ENST00000216492.5 + 6 965_967 c.685_687delGAG c.(685-687)del p.E236del CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 236 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AAAGAGAgaagaggaggaggagg 0.645 8 242 --- --- --- --- INF2 64423 broad.mit.edu 37 14 105174270 105174271 + Frame_Shift_Ins INS - - G TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr14:105174270_105174271insG ENST00000392634.4 + 8 1778_1779 c.1666_1667insG c.(1666-1668)ggtfs p.G556fs INF2_ENST00000330634.7_Frame_Shift_Ins_p.G556fs NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 556 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) CAGCCATCGGCGGGTGAACCCA 0.663 9 406 --- --- --- --- IGHV3-48 0 broad.mit.edu 37 14 106993939 106993941 + RNA DEL TAC TAC - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr14:106993939_106993941delTAC ENST00000390624.2 - 0 302_304 TAGTATATGGTACTACTACTACT 0.502 10 1226 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709287 22709288 + RNA DEL AG AG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr15:22709287_22709288delAG ENST00000314246.8 - 0 1157 CAaaaaaaaaagaaaagaaaag 0.515 7 306 --- --- --- --- EIF3J 8669 broad.mit.edu 37 15 44829395 44829397 + Translation_Start_Site DEL GGC GGC - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr15:44829395_44829397delGGC ENST00000261868.5 + 0 141_143 EIF3J_ENST00000535391.1_Start_Codon_Del|EIF3J_ENST00000424492.3_Start_Codon_Del NM_003758.2 NP_003749.2 O75822 EIF3J_HUMAN eukaryotic translation initiation factor 3, subunit J cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|large_intestine(5)|liver(2)|skin(1) 9 all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758) GGCTCGAGATggcggcggcggcg 0.719 8 122 --- --- --- --- IL16 3603 broad.mit.edu 37 15 81592162 81592164 + In_Frame_Del DEL CCT CCT - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr15:81592162_81592164delCCT ENST00000394660.2 + 14 2855_2857 c.2495_2497delCCT c.(2494-2499)gcc>g p.AS832del IL16_ENST00000302987.4_In_Frame_Del_p.AS832del|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_In_Frame_Del_p.AS131del NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 832 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity p.S792delS(1)|p.S838delS(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 CACATCCGGGcctcctcctcctc 0.586 7 330 --- --- --- --- BLM 641 broad.mit.edu 37 15 91304138 91304139 + Frame_Shift_Ins INS - - A TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr15:91304138_91304139insA ENST00000355112.3 + 7 1653_1654 c.1535_1536insA c.(1534-1536)gaafs p.E512fs BLM_ENST00000560509.1_Frame_Shift_Ins_p.E512fs NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 512 double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding p.N515fs*16(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) CCAAGACTAGGAAAAAAAAATG 0.371 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 8 439 --- --- --- --- VPS33B 26276 broad.mit.edu 37 15 91550236 91550238 + In_Frame_Del DEL TCC TCC - rs147271815 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr15:91550236_91550238delTCC ENST00000333371.3 - 9 995_997 c.642_644delGGA c.(640-645)gat>ga p.ED214del VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del|VPS33B_ENST00000535906.1_In_Frame_Del_p.ED187del NM_018668.3 NP_061138.3 Q9H267 VP33B_HUMAN vacuolar protein sorting 33 homolog B (yeast) 214 cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2) 16 Lung NSC(78;0.0987)|all_lung(78;0.175) GGTTTCGCCATCCTCCTCCTCCT 0.522 8 891 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 9 378 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - rs4788682 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr16:72991713_72991715delCCA ENST00000268489.5 - 2 3002_3004 c.2330_2332delTGG c.(2329-2334)gct>g p.VA777del ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 777 Poly-Ala. V -> A (in dbSNP:rs4788682). muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V777V(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) gccgccgcagccaccgccgccgc 0.635 17 609 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 11 34 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 8 525 --- --- --- --- RP11-314A20.2 0 broad.mit.edu 37 17 4608074 4608075 + RNA DEL GT GT - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:4608074_4608075delGT ENST00000497885.1 + 0 141 NR_103482.1 AATCAGTAACGTGTGTGTGTGT 0.515 7 62 --- --- --- --- NUFIP2 57532 broad.mit.edu 37 17 27620990 27620992 + In_Frame_Del DEL GCT GCT - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:27620990_27620992delGCT ENST00000225388.4 - 1 144_146 c.86_88delAGC c.(85-90)ccg>c p.QP29del NUFIP2_ENST00000579665.1_In_Frame_Del_p.QP29del NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 29 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtgcggctgctgctgctg 0.591 11 556 --- --- --- --- NSRP1 84081 broad.mit.edu 37 17 28505166 28505167 + Frame_Shift_Ins INS - - A rs143842750 byFrequency TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:28505166_28505167insA ENST00000247026.5 + 4 312_313 c.249_250insA c.(247-252)caaaaafs p.QK83fs NSRP1_ENST00000540900.3_3'UTR NM_001261467.1|NM_032141.3 NP_001248396.1|NP_115517.1 Q9H0G5 NSRP1_HUMAN nuclear speckle splicing regulatory protein 1 83 developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome nuclear speck|ribonucleoprotein complex mRNA binding|protein binding autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 14 ATGAAATGCAGAAAAAAAAGGA 0.332 7 425 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 27 239 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028016 55028016 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:55028016delT ENST00000240316.4 - 2 621 c.587delA c.(586-588)agfs p.K196fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 196 Lys-rich (basic). Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) ATTCTTAGCCTTTTTTTTATA 0.393 11 643 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028117 55028118 + Frame_Shift_Ins INS - - T TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:55028117_55028118insT ENST00000240316.4 - 2 519_520 c.485_486insA c.(484-486)aaafs p.K162fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 162 Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) TTTTTCTCTTGTTTTTTTTGCT 0.366 23 742 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056586 56056587 + In_Frame_Ins INS - - TGT TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:56056586_56056587insTGT ENST00000584396.1 - 5 1125_1126 c.1037_1038insACA c.(1036-1038)cgt>cACAgt p.346_346R>HS VEZF1_ENST00000581208.1_In_Frame_Ins_p.355_355R>HS Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 355 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 AGCTTGTCACAtgttgttgttg 0.475 7 1007 --- --- --- --- PPM1D 8493 broad.mit.edu 37 17 58740624 58740624 + Frame_Shift_Del DEL A A - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:58740624delA ENST00000305921.3 + 6 1761 c.1529delA c.(1528-1530)cafs p.Q510fs NM_003620.3 NP_003611.1 O15297 PPM1D_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1D 510 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity p.N512fs*2(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) GTCATGGACCAAAAAAATTTG 0.378 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 7 734 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141032 66141032 + RNA DEL C C - rs76883902 by1000genomes TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:66141032delC ENST00000590019.1 - 0 70 AAAAAAAAAACATAAGCCAAA 0.338 12 181 --- --- --- --- CBX4 8535 broad.mit.edu 37 17 77808241 77808243 + In_Frame_Del DEL GTG GTG - rs3833850 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:77808241_77808243delGTG ENST00000269397.4 - 5 1375_1377 c.1198_1200delCAC c.(1198-1200)del p.H400del NM_003655.2 NP_003646.2 O00257 CBX4_HUMAN chromobox homolog 4 400 His-rich.|Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGCCGACGGCgtggtggtggtgg 0.704 9 94 --- --- --- --- SLC38A10 124565 broad.mit.edu 37 17 79226066 79226066 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr17:79226066delT ENST00000374759.3 - 13 2257 c.1874delA c.(1873-1875)agfs p.K625fs SLC38A10_ENST00000288439.5_Frame_Shift_Del_p.K625fs NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 625 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CCCCTTGGCCTTTTCCCCTCC 0.706 7 485 --- --- --- --- TRMT1 55621 broad.mit.edu 37 19 13215786 13215786 + Frame_Shift_Del DEL G G - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:13215786delG ENST00000592062.1 - 18 2513 c.1943delC c.(1942-1944)ctfs p.P648fs TRMT1_ENST00000437766.1_Frame_Shift_Del_p.P648fs|TRMT1_ENST00000357720.4_Frame_Shift_Del_p.P648fs|TRMT1_ENST00000221504.8_Frame_Shift_Del_p.P619fs Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae) 648 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) CCCAGGTCCAGGGGGGGTCTG 0.602 OREG0025289 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 1471 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.695 8 219 --- --- --- --- LIPE-AS1 0 broad.mit.edu 37 19 43136362 43136363 + RNA DEL TG TG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:43136362_43136363delTG ENST00000594688.1 + 0 1450 LIPE-AS1_ENST00000594624.2_RNA NR_073179.1 TGAGTATGTATGTGTGTGTGTG 0.505 7 143 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45381749 45381751 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:45381749_45381751delGAG ENST00000252485.4 + 6 1663_1665 c.1312_1314delGAG c.(1312-1314)del p.E445del PVRL2_ENST00000252483.5_Intron NM_002856.2 NP_002847.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 504 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TGGCAaggatgaggaggaggagg 0.591 8 158 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 7 1024 --- --- --- --- ZC3H4 23211 broad.mit.edu 37 19 47572401 47572403 + In_Frame_Del DEL CTC CTC - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:47572401_47572403delCTC ENST00000253048.5 - 14 2381_2383 c.2344_2346delGAG c.(2344-2346)del p.E782del ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 782 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TCCTCGCTCTCTCCTCCTCCTCC 0.700 10 847 --- --- --- --- NAPSA 9476 broad.mit.edu 37 19 50868836 50868838 + In_Frame_Del DEL GCA GCA - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:50868836_50868838delGCA ENST00000253719.2 - 1 249_251 c.41_43delTGC c.(40-45)cct>c p.LP14del NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron NM_004851.1 NP_004842.1 O96009 NAPSA_HUMAN napsin A aspartic peptidase 14 proteolysis extracellular region aspartic-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) TTcagcagaggcagcagcagcag 0.596 7 220 --- --- --- --- CNOT3 4849 broad.mit.edu 37 19 54649671 54649671 + Frame_Shift_Del DEL T T - rs36665 byFrequency TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:54649671delT ENST00000406403.1 + 8 2332 c.729delT c.(727-729)ccfs p.P244fs CNOT3_ENST00000221232.5_Frame_Shift_Del_p.P244fs|CNOT3_ENST00000358389.3_Frame_Shift_Del_p.P63fs O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 244 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCACCTCCCCTCCCAGCCACA 0.632 9 510 --- --- --- --- KIR2DL4 0 broad.mit.edu 37 19 55324675 55324675 + Frame_Shift_Del DEL A A - rs148484482 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr19:55324675delA ENST00000396284.2 + 6 796 c.796delA c.(796-798)aafs p.K268fs KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 p.M271fs*>3(1) NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CTGGTGCTCCAAAAAAAAAGT 0.532 7 180 --- --- --- --- CHGB 1114 broad.mit.edu 37 20 5903283 5903285 + In_Frame_Del DEL GAG GAG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr20:5903283_5903285delGAG ENST00000378961.4 + 4 697_699 c.493_495delGAG c.(493-495)del p.E169del NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 169 Poly-Glu. extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 GAGAGAGGATGAGGAGGAGGAGG 0.532 8 339 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29624034 29624035 + Frame_Shift_Ins INS - - G rs73621649 TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr20:29624034_29624035insG ENST00000439954.2 + 4 419_420 c.73_74insG c.(73-75)tgafs p.*25fs FRG1B_ENST00000358464.4_Intron|FRG1B_ENST00000278882.3_Intron endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TTTCTCCAATATTGATGAGGGC 0.287 8 69 --- --- --- --- IFNGR2 3460 broad.mit.edu 37 21 34799292 34799292 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr21:34799292delT ENST00000290219.6 + 4 1162 c.514delT c.(514-516)ttfs p.F173fs IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 173 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) CTCCACGGCCTTTTTTTGTTA 0.458 7 1510 --- --- --- --- MCM3AP 8888 broad.mit.edu 37 21 47663397 47663397 + Frame_Shift_Del DEL G G - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr21:47663397delG ENST00000397708.1 - 25 5532 c.5278delC c.(5278-5280)ggfs p.R1760fs MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.R1760fs|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1760 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) ACAGGAAGCCGGGGGGGCGTC 0.527 9 879 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918817 20918819 + In_Frame_Del DEL CAG CAG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr22:20918817_20918819delCAG ENST00000263205.7 + 6 601_603 c.532_534delCAG c.(532-534)del p.Q188del MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 188 Poly-Gln. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) ggcggcgctacagcagcagcagc 0.626 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 167 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 11 434 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610776 42610778 + In_Frame_Del DEL TGC TGC - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chr22:42610776_42610778delTGC ENST00000359486.3 - 1 670_672 c.534_536delGCA c.(532-537)caa>ca p.QQ178del TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 178 Poly-Gln. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 CTGCTGGACTTGCTGCTGCTGCT 0.571 8 411 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 13 688 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76855019 76855019 + Frame_Shift_Del DEL T T - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chrX:76855019delT ENST00000373344.5 - 25 6031 c.5817delA c.(5815-5817)aafs p.K1939fs ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1901fs|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1939 Poly-Lys. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AGCTACTATCTTTTTTCCCCT 0.353 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 8 2372 --- --- --- --- PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chrX:110406206_110406208delGAA ENST00000519681.1 + 10 1037_1039 c.595_597delGAA c.(595-597)del p.E203del PAK3_ENST00000417227.1_In_Frame_Del_p.E203del|PAK3_ENST00000372010.1_In_Frame_Del_p.E197del|PAK3_ENST00000446737.1_In_Frame_Del_p.E182del|PAK3_ENST00000425146.1_In_Frame_Del_p.E182del|PAK3_ENST00000372007.4_In_Frame_Del_p.E182del|PAK3_ENST00000518291.1_In_Frame_Del_p.E218del|PAK3_ENST00000360648.4_In_Frame_Del_p.E218del|PAK3_ENST00000262836.4_In_Frame_Del_p.E197del O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agatgaagaggaagaagaagaag 0.394 TSP Lung(19;0.15) 17 689 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chrX:135585048_135585050delAAG ENST00000535601.1 + 6 1104_1106 c.682_684delAAG c.(682-684)del p.K232del HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 232 Poly-Lys. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TGATGCCTCAAAGAAGAAGAAGA 0.335 8 600 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-HZ-A77O-01A-11D-A33T-08 TCGA-HZ-A77O-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51a31396-824d-4bb7-880f-22e8ad499de8 0b3e89bf-3b98-412d-a579-3819ebdc3fb8 g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000346693.4_5'UTR NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 15 1262 --- --- --- ---