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 RAB3IP 117177 broad.mit.edu 37 12 70209146 70209146 + Missense_Mutation SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:70209146G>A ENST00000550536.1 + 11 1808 c.1351G>A c.(1351-1353)Gat>Aat p.D451N RAB3IP_ENST00000551641.1_Missense_Mutation_p.D229N|AC025263.3_ENST00000550437.1_Intron|RAB3IP_ENST00000362025.5_3'UTR|RAB3IP_ENST00000325555.9_Missense_Mutation_p.D229N|RAB3IP_ENST00000550847.1_Missense_Mutation_p.D142N|RAB3IP_ENST00000247833.7_Missense_Mutation_p.D435N|RAB3IP_ENST00000483530.2_3'UTR|RAB3IP_ENST00000553099.1_Missense_Mutation_p.D229N NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 451 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) TTGTATAGTTGATCAGATGTT 0.363000 96 420 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810383 123810383 + Silent SNP T T C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr11:123810383T>C ENST00000307033.2 + 1 134 c.60T>C c.(58-60)gtT>gtC p.V20V NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCTCTCAGGTTTGGGAGCTTC 0.443000 44 489 0 0 1 0 0 SDHAP3 0 broad.mit.edu 37 5 1593264 1593264 + RNA SNP C C T rs111700178 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr5:1593264C>T ENST00000436493.2 - 0 361 AGGGCACATGCCTGACCAAAG 0.557000 11 241 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:7578263G>A ENST00000420246.2 - 6 718 c.586C>T c.(586-588)Cga>Tga p.R196* TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 196 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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) CCTTCCACTCGGATAAGATGC 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) 83 129 0 0 1 0 0 IFNA7 3444 broad.mit.edu 37 9 21201945 21201945 + Missense_Mutation SNP T T C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr9:21201945T>C ENST00000239347.3 - 1 259 c.220A>G c.(220-222)Act>Gct p.T74A NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 74 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) ATGGCTTGAGTCTTCTGGAAC 0.493000 9 389 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 12 151 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112048283 112048283 + Silent SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chrX:112048283C>T ENST00000371959.3 - 5 1667 c.1668G>A c.(1666-1668)gcG>gcA p.A556A AMOT_ENST00000304758.1_Silent_p.A147A|AMOT_ENST00000524145.1_Silent_p.A556A|AMOT_ENST00000371962.1_Silent_p.A324A|AMOT_ENST00000371958.1_Silent_p.A324A NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 556 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 TGGCCAGCTCCGCTTCCAGCT 0.527000 452 724 0 0 1 0 0 ATRIP 84126 broad.mit.edu 37 3 48491541 48491541 + Missense_Mutation SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:48491541G>A ENST00000412052.1 + 2 529 c.67G>A c.(67-69)Gta>Ata p.V23I ATRIP_ENST00000357105.6_5'UTR|ATRIP_ENST00000346691.4_Missense_Mutation_p.V116I|ATRIP_ENST00000320211.3_Missense_Mutation_p.V116I NM_001271023.1 NP_001257952.1 Q8WXE1 ATRIP_HUMAN ATR interacting protein 116 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1) 22 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CGAATTAGAGGTACTTCAGGC 0.333000 Other conserved DNA damage response genes 240 343 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856702 53856702 + Missense_Mutation SNP G G A rs150688663 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 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 7 299 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79067130 79067130 + Missense_Mutation SNP T T C rs138755716 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr15:79067130T>C ENST00000388820.4 - 12 1922 c.1712A>G c.(1711-1713)aAa>aGa p.K571R ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 571 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 GCCTTTGTATTTGGGCCTGTG 0.647000 6 224 0 0 1 0 0 ACE2 59272 broad.mit.edu 37 X 15582310 15582310 + Missense_Mutation SNP G G A rs144869363 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chrX:15582310G>A ENST00000427411.1 - 18 2362 c.2146C>T c.(2146-2148)Cgt>Tgt p.R716C ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000252519.3_Missense_Mutation_p.R716C NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 716 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) TCATTCAGACGGAAAGCATCA 0.428000 128 572 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46231283 46231283 + Missense_Mutation SNP A A G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:46231283A>G ENST00000334344.6 + 10 1295 c.1123A>G c.(1123-1125)Atg>Gtg p.M375V ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.M4V|ARID2_ENST00000422737.1_Missense_Mutation_p.M226V NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 375 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTTTTCAGGCATGGAAATTTT 0.308000 """N, S, F""" hepatocellular carcinoma 148 533 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 6 111 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7796794 7796794 + Missense_Mutation SNP A A C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:7796794A>C ENST00000380358.4 + 5 878 c.877A>C c.(877-879)Ata>Cta p.I293L CHD3_ENST00000330494.7_Missense_Mutation_p.I234L|CHD3_ENST00000358181.4_Missense_Mutation_p.I234L NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 234 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) GGCCACCCCCATAGCACCCTC 0.657000 9 42 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215835096 215835096 + Missense_Mutation SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr2:215835096G>A ENST00000272895.7 - 37 5810 c.5591C>T c.(5590-5592)cCg>cTg p.P1864L ABCA12_ENST00000389661.4_Missense_Mutation_p.P1546L NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1864 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TCTTCTGTGCGGTGGGGAATA 0.358000 74 358 0 0 1 0 0 GTF3A 2971 broad.mit.edu 37 13 28001293 28001293 + Missense_Mutation SNP G G T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr13:28001293G>T ENST00000381140.4 + 2 460 c.266G>T c.(265-267)cGc>cTc p.R89L GTF3A_ENST00000470606.1_3'UTR NM_002097.2 NP_002088.2 Q92664 TF3A_HUMAN general transcription factor IIIA 89 regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter nucleoplasm DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|lung(1) 2 Lung SC(185;0.0156) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158) CATCTGAGCCGCCACATTCTG 0.453000 27 76 5.60225e-13 6.16682e-13 1 1 0 MAEA 10296 broad.mit.edu 37 4 1283769 1283769 + Splice_Site SNP A A G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr4:1283769A>G ENST00000303400.4 + 1 131 c.69_splice c.e1+1 p.K23_splice MAEA_ENST00000505177.2_Splice_Site_p.K23_splice|MAEA_ENST00000452175.2_Splice_Site_p.K12_splice|MAEA_ENST00000514708.1_Splice_Site_p.K23_splice|MAEA_ENST00000264750.6_Splice_Site_p.K23_splice NM_001017405.1 NP_001017405.1 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher 23 Extracellular and involved in cell to cell contact. cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(23;0.0201) CCGACCCTCAAGGTGGGCGCC 0.716000 6 41 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18778612 18778612 + RNA SNP C C T rs1055042 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr22:18778612C>T ENST00000412448.1 - 0 793 GCGGCCACGGCAGCCCTGGTG 0.637000 11 131 0 0 1 0 0 PLA1A 51365 broad.mit.edu 37 3 119327676 119327676 + Missense_Mutation SNP C C T rs145457987 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:119327676C>T ENST00000273371.4 + 3 407 c.335C>T c.(334-336)aCg>aTg p.T112M PLA1A_ENST00000495992.1_Missense_Mutation_p.T112M|PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000494440.1_Missense_Mutation_p.T96M NM_015900.3 NP_056984.1 Q53H76 PLA1A_HUMAN phospholipase A1 member A 112 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CTGCGTGCAACGAATGCTAAT 0.438000 203 629 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039221 248039221 + Silent SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:248039221C>T ENST00000366481.3 + 6 939 c.891C>T c.(889-891)ccC>ccT p.P297P OR2W3_ENST00000537741.1_5'UTR NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 297 B30.2/SPRY. intracellular zinc ion binding p.P297P(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) AGCTGGATCCCGCCACGGCGC 0.537000 57 141 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17023143 17023143 + RNA SNP C C T rs559507 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:17023143C>T ENST00000492551.1 - 0 1720 NR_026567.1 TGTGGGGCTCCGGACTGGTAA 0.692000 10 138 0 0 1 0 0 SH2D3C 10044 broad.mit.edu 37 9 130507114 130507114 + Missense_Mutation SNP G G A rs142472912 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr9:130507114G>A ENST00000314830.8 - 7 1642 c.1529C>T c.(1528-1530)gCg>gTg p.A510V SH2D3C_ENST00000420366.1_Missense_Mutation_p.A352V|SH2D3C_ENST00000373277.4_Missense_Mutation_p.A353V|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A442V|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.A156V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A350V NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 510 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGTCTCAGTCGCTGCCCACTC 0.627000 324 605 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 11 278 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 9 73 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037471 75037471 + Missense_Mutation SNP G G A rs138615520 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:75037471G>A ENST00000326665.5 - 14 4141 c.3923C>T c.(3922-3924)gCg>gTg p.A1308V C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1308 Glu-rich. p.A1308V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 GTCCTGCATCGCTTCTGTCTC 0.542000 117 728 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946471 16946471 + RNA SNP G G C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:16946471G>C ENST00000412962.1 - 0 1048 CGCTGCAGCTGACTCTGCAGC 0.677000 4 118 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164764706 164764706 + Missense_Mutation SNP C C A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:164764706C>A ENST00000264382.3 - 16 1872 c.1810G>T c.(1810-1812)Gac>Tac p.D604Y NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 604 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GCAGTATTGTCTCCTAACCAA 0.393000 HNSCC(35;0.089) 12 592 1.5842e-08 1.71722e-08 1 1 0 RBM10 8241 broad.mit.edu 37 X 47030582 47030582 + Missense_Mutation SNP G G T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chrX:47030582G>T ENST00000377604.3 + 4 1099 c.357G>T c.(355-357)gaG>gaT p.E119D RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 119 Poly-Glu. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 aggaggaggaggatgaggagg 0.662000 5 91 0.000602214 0.000624193 1 1 0 CCT6P1 0 broad.mit.edu 37 7 65226641 65226641 + RNA SNP G G T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr7:65226641G>T ENST00000442266.1 + 0 1167 AGGTTCTTGCGCAGAATTCTG 0.383000 4 102 0.000602214 0.000624193 1 1 0 LRBA 987 broad.mit.edu 37 4 151791686 151791686 + Missense_Mutation SNP G G C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr4:151791686G>C ENST00000535741.1 - 20 2913 c.2440C>G c.(2440-2442)Caa>Gaa p.Q814E LRBA_ENST00000507224.1_Missense_Mutation_p.Q814E|LRBA_ENST00000357115.3_Missense_Mutation_p.Q814E|LRBA_ENST00000510413.1_Missense_Mutation_p.Q814E P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 814 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CGAGGGTTTTGTATCTTCACT 0.313000 126 200 0 0 1 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 18 152 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195410689 195410689 + RNA SNP C C T rs6583275 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:195410689C>T ENST00000445430.1 + 0 1886 CTTTGAGGTGCACTGGAGGAA 0.567000 4 91 0 0 1 0 0 AGPAT3 56894 broad.mit.edu 37 21 45389013 45389013 + Silent SNP C C A rs146737372 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr21:45389013C>A ENST00000398063.2 + 4 855 c.363C>A c.(361-363)ctC>ctA p.L121L AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Silent_p.L121L|AGPAT3_ENST00000327505.2_Silent_p.L121L|AGPAT3_ENST00000546158.1_Silent_p.L121L|AGPAT3_ENST00000291572.8_Silent_p.L121L|AGPAT3_ENST00000398061.1_Silent_p.L121L NM_001037553.1 NP_001032642.1 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 121 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity large_intestine(4)|lung(5)|ovary(1)|prostate(1) 11 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) CCAAGGTCCTCGCTAAGAAGG 0.637000 8 224 0.000157383 0.000165544 1 1 0 KCNT2 343450 broad.mit.edu 37 1 196227479 196227479 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:196227479C>T ENST00000367433.5 - 25 3085 c.2984G>A c.(2983-2985)cGa>cAa p.R995Q KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.R953Q|KCNT2_ENST00000294725.8_Missense_Mutation_p.R1019Q Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1019 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity p.R1019Q(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GCTCAGTCTTCGGGCCCACTG 0.512000 120 311 0 0 1 0 0 RP11-435B5.4 0 broad.mit.edu 37 1 143403563 143403563 + RNA SNP C C A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:143403563C>A ENST00000423249.1 - 0 59 TTTCTTTGGCCACTTTGGCTG 0.453000 10 98 1.99824e-07 2.13345e-07 1 1 0 TBC1D12 23232 broad.mit.edu 37 10 96269882 96269882 + Silent SNP A A G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr10:96269882A>G ENST00000225235.4 + 8 1745 c.1635A>G c.(1633-1635)gaA>gaG p.E545E TBC1D12_ENST00000485048.1_3'UTR NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 545 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCAGTCTGGAATTAATTAAGT 0.353000 68 333 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195410687 195410687 + RNA SNP T T A rs6583274 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:195410687T>A ENST00000445430.1 + 0 1884 CCCTTTGAGGTGCACTGGAGG 0.567000 4 90 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56369355 56369355 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:56369355C>T ENST00000301295.6 + 3 1018 c.596C>T c.(595-597)aCg>aTg p.T199M NLRP4_ENST00000587891.1_Missense_Mutation_p.T124M|NLRP4_ENST00000346986.5_Missense_Mutation_p.T199M NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 199 NACHT. ATP binding p.T199M(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TTGCCGCCAACGAGTTTGGCT 0.517000 196 748 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71795377 71795377 + Missense_Mutation SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr2:71795377G>A ENST00000258104.3 + 26 2996 c.2719G>A c.(2719-2721)Gtc>Atc p.V907I DYSF_ENST00000409582.3_Missense_Mutation_p.V924I|DYSF_ENST00000429174.2_Missense_Mutation_p.V907I|DYSF_ENST00000394120.2_Missense_Mutation_p.V908I|DYSF_ENST00000409651.1_Missense_Mutation_p.V939I|DYSF_ENST00000413539.2_Missense_Mutation_p.V938I|DYSF_ENST00000410020.3_Missense_Mutation_p.V925I|DYSF_ENST00000409744.1_Missense_Mutation_p.V894I|DYSF_ENST00000409762.1_Missense_Mutation_p.V924I|DYSF_ENST00000410041.1_Missense_Mutation_p.V925I|DYSF_ENST00000409366.1_Missense_Mutation_p.V908I NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 907 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 GTTTTCTGACGTCACGGGCAA 0.592000 263 1483 0 0 1 0 0 TRPT1 83707 broad.mit.edu 37 11 63991808 63991808 + Missense_Mutation SNP G G A rs116905598 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr11:63991808G>A ENST00000394546.2 - 6 727 c.514C>T c.(514-516)Cgg>Tgg p.R172W TRPT1_ENST00000394547.3_Missense_Mutation_p.R121W|TRPT1_ENST00000541278.1_Missense_Mutation_p.R170W|TRPT1_ENST00000546133.1_Missense_Mutation_p.R44W|TRPT1_ENST00000546089.1_Missense_Mutation_p.R121W|TRPT1_ENST00000317459.6_Missense_Mutation_p.R170W NM_001033678.3|NM_001160389.1|NM_001160390.1|NM_001160393.1 NP_001028850.2|NP_001153861.1|NP_001153862.1|NP_001153865.1 Q86TN4 TRPT1_HUMAN tRNA phosphotransferase 1 170 H -> R (in dbSNP:rs1059440). tRNA 2'-phosphotransferase activity lung(2)|skin(1) 3 CAATGGGACCGCATGCCTGCA 0.622000 6 297 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67682073 67682073 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:67682073C>T ENST00000334583.6 + 14 1518 c.1190C>T c.(1189-1191)gCg>gTg p.A397V RLTPR_ENST00000545661.1_Intron NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 397 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) ACCGGCAGGGCGGACTGGAGG 0.692000 33 62 0 0 1 0 0 NLGN3 54413 broad.mit.edu 37 X 70389792 70389792 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chrX:70389792C>T ENST00000374051.3 + 7 2654 c.2332C>T c.(2332-2334)Cgc>Tgc p.R778C NLGN3_ENST00000536169.1_Missense_Mutation_p.R758C|NLGN3_ENST00000358741.3_Missense_Mutation_p.R798C|NLGN3_ENST00000476589.1_3'UTR NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 798 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity p.R778C(1) biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) GACCCTGCGGCGCTCCCCGGA 0.612000 16 41 0 0 1 0 0 VRK3 51231 broad.mit.edu 37 19 50504080 50504080 + Missense_Mutation SNP T T C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:50504080T>C ENST00000443401.2 - 5 516 c.38A>G c.(37-39)cAg>cGg p.Q13R VRK3_ENST00000316763.3_Silent_p.S193S|VRK3_ENST00000594948.1_Silent_p.S193S|VRK3_ENST00000601341.1_Silent_p.S143S|VRK3_ENST00000593919.1_Silent_p.S193S|VRK3_ENST00000594092.1_Silent_p.S193S|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000599538.1_Silent_p.S193S|VRK3_ENST00000377011.2_Silent_p.S143S|VRK3_ENST00000601912.1_Silent_p.S143S Q8IV63 VRK3_HUMAN vaccinia related kinase 3 0 nucleus ATP binding|protein kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1) 23 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) TCTGTGGTCCTGAGTCACAGG 0.542000 25 161 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946396 16946396 + RNA SNP C C T rs367013 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:16946396C>T ENST00000412962.1 - 0 1123 TGCTGCAGGGCAGCAATCTCC 0.667000 14 158 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161032642 161032642 + Missense_Mutation SNP G G C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr6:161032642G>C ENST00000447678.1 - 17 2675 c.2555C>G c.(2554-2556)tCt>tGt p.S852C LPA_ENST00000316300.5_Missense_Mutation_p.S852C NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3360 Kringle 8. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGGTGTCATAGATGACCAAGC 0.493000 21 1301 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55138848 55138848 + Missense_Mutation SNP A A T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:55138848A>T ENST00000414150.2 + 8 1962 c.1684A>T c.(1684-1686)Agc>Tgc p.S562C MROH7_ENST00000339553.5_Missense_Mutation_p.S562C|MROH7_ENST00000454855.2_Missense_Mutation_p.S80C|MROH7_ENST00000545244.1_Missense_Mutation_p.S130C|MROH7_ENST00000421030.2_Missense_Mutation_p.S562C|MROH7_ENST00000409996.1_Missense_Mutation_p.S130C|MROH7_ENST00000395690.2_Missense_Mutation_p.S562C maestro heat-like repeat family member 7 TGGGCTGAAGAGCATCTTgga 0.597000 9 104 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 16089977 16089977 + Missense_Mutation SNP A A G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:16089977A>G ENST00000268712.3 - 3 390 c.133T>C c.(133-135)Tcc>Ccc p.S45P NCOR1_ENST00000395851.1_Missense_Mutation_p.S45P|NCOR1_ENST00000395848.1_Intron NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 45 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AGATGAGAGGAACGATAATCA 0.403000 40 266 0 0 1 0 0 CCT6P3 0 broad.mit.edu 37 7 64530103 64530103 + RNA SNP G G A rs137873032 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr7:64530103G>A ENST00000426828.1 + 0 923 NR_033416.1 TGACTGCTTGGGACATGCAGG 0.388000 5 223 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083353 44083353 + Missense_Mutation SNP A A T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr22:44083353A>T ENST00000262726.7 - 11 1393 c.1140T>A c.(1138-1140)aaT>aaA p.N380K EFCAB6_ENST00000396231.2_Missense_Mutation_p.N228K|EFCAB6_ENST00000358439.4_Intron NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding p.N380K(1) breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TTACATACCTATTTCTTTTTG 0.299000 25 153 0 0 1 0 0 SPRYD3 84926 broad.mit.edu 37 12 53459657 53459657 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:53459657C>T ENST00000301463.4 - 11 1374 c.1288G>A c.(1288-1290)Ggg>Agg p.G430R SPRYD3_ENST00000547837.1_Missense_Mutation_p.G467R NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 430 p.G430W(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 ACTTTCTCCCCGCAGCTCAGC 0.567000 OREG0021856 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 134 450 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 11 380 0 0 1 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011400 46011400 + Silent SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 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 7 406 0 0 1 0 0 TRGV5 0 broad.mit.edu 37 7 38388960 38388960 + RNA SNP T T C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr7:38388960T>C ENST00000390344.2 - 0 547 ACTGTGCCTGTCCCAGGTGGC 0.478000 5 164 0 0 1 0 0 U2AF2 11338 broad.mit.edu 37 19 56171880 56171880 + Splice_Site SNP A A C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:56171880A>C ENST00000450554.2 + 4 1189 c.e4-1 U2AF2_ENST00000308924.4_Splice_Site NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding p.?(2) biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CACCTCCCCCAGTCGTTCCCC 0.637000 13 149 0 0 1 0 0 KLK1 3816 broad.mit.edu 37 19 51322554 51322554 + Missense_Mutation SNP A A T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:51322554A>T ENST00000448701.2 - 6 1703 c.379T>A c.(379-381)Tca>Aca p.S127T KLK1_ENST00000301420.2_Missense_Mutation_p.S229T P06870 KLK1_HUMAN kallikrein 1 229 Peptidase S1. proteolysis nucleus serine-type endopeptidase activity breast(1)|large_intestine(4)|lung(7)|urinary_tract(1) 13 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TAGCCCCATGATGTGACACCT 0.582000 174 245 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67802227 67802227 + Missense_Mutation SNP C C A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr13:67802227C>A ENST00000544246.1 - 2 1037 c.346G>T c.(346-348)Gtg>Ttg p.V116L PCDH9_ENST00000456367.1_Missense_Mutation_p.V116L|PCDH9_ENST00000377865.2_Missense_Mutation_p.V116L|PCDH9_ENST00000377861.3_Missense_Mutation_p.V116L|PCDH9_ENST00000328454.5_Missense_Mutation_p.V116L NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 116 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GGGAGGATCACCACCTCAAGT 0.408000 52 541 3.94638e-17 4.4475e-17 1 1 0 TNRC18 84629 broad.mit.edu 37 7 5410273 5410273 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr7:5410273C>T ENST00000399537.4 - 11 4300 c.3952G>A c.(3952-3954)Ggc>Agc p.G1318S TNRC18_ENST00000430969.1_Missense_Mutation_p.G1318S O15417 TNC18_HUMAN trinucleotide repeat containing 18 1318 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CAGGTGCTGCCGAGTACAGGC 0.662000 29 46 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139397707 139397707 + Silent SNP G G A rs10521 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr9:139397707G>A ENST00000277541.6 - 27 5169 c.5094C>T c.(5092-5094)gaC>gaT p.D1698D NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1698 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.D1699D(11) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ATGCGGCCACGTCGGTGGCAC 0.632000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 6 227 0 0 1 0 0 HMGN2P46 0 broad.mit.edu 37 15 45848224 45848224 + RNA SNP G G T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr15:45848224G>T ENST00000409454.1 + 0 1219 TGCAGATTTTGTTTAGCTTTT 0.318000 28 148 3.33393e-15 3.69858e-15 1 1 0 MGRN1 0 broad.mit.edu 37 16 4702743 4702743 + Nonsense_Mutation SNP G G T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:4702743G>T ENST00000399577.5 + 4 454 c.361G>T c.(361-363)Gag>Tag p.E121* MGRN1_ENST00000262370.7_Nonsense_Mutation_p.E121*|MGRN1_ENST00000415496.1_Nonsense_Mutation_p.E121*|MGRN1_ENST00000586183.1_Nonsense_Mutation_p.E121*|MGRN1_ENST00000588994.1_Nonsense_Mutation_p.E121* NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 121 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 CTACAGCCTGGAGTTCACCTT 0.662000 34 68 1.62565e-12 1.77571e-12 1 1 0 KRTAP6-1 337966 broad.mit.edu 37 21 31986063 31986063 + Missense_Mutation SNP C C T rs28567421 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr21:31986063C>T ENST00000329122.2 - 1 186 c.161G>A c.(160-162)cGc>cAc p.R54H NM_181602.1 NP_853633.1 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 54 cytosol|intermediate filament breast(2)|endometrium(1)|lung(7) 10 ACAGAGGGAGCGGGAGCCATA 0.587000 118 419 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723596 49723596 + Missense_Mutation SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:49723596G>A ENST00000449682.2 - 9 1407 c.1046C>T c.(1045-1047)cCc>cTc p.P349L MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 335 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.P335L(5) 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) TGAGCCGTCGGGGTTCCGGCA 0.667000 4 94 0 0 1 0 0 PSKH1 5681 broad.mit.edu 37 16 67961230 67961230 + Silent SNP C C G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:67961230C>G ENST00000291041.5 + 3 1130 c.960C>G c.(958-960)ccC>ccG p.P320P NM_006742.2 NP_006733.1 P11801 KPSH1_HUMAN protein serine kinase H1 320 Protein kinase. endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1) 12 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128) GTCTCTAGCCCTGGCCTAGTG 0.587000 167 308 0 0 1 0 0 HNRNPDL 9987 broad.mit.edu 37 4 83349551 83349551 + Silent SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr4:83349551C>T ENST00000295470.5 - 2 667 c.492G>A c.(490-492)ctG>ctA p.L164L HNRNPDL_ENST00000502762.1_Silent_p.L164L|HNRNPDL_ENST00000349655.4_Silent_p.L45L|HNRNPDL_ENST00000602300.1_Silent_p.L45L|HNRNPDL_ENST00000514511.1_Intron NM_001207000.1|NM_031372.3 NP_001193929.1|NP_112740.1 heterogeneous nuclear ribonucleoprotein D-like AGTACTCTGTCAGATCTTTTT 0.343000 8 453 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72308199 72308199 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:72308199C>T ENST00000579490.1 + 11 1858 c.1723C>T c.(1723-1725)Cgg>Tgg p.R575W DNAI2_ENST00000311014.6_Missense_Mutation_p.R518W|DNAI2_ENST00000446837.2_Missense_Mutation_p.R518W|DNAI2_ENST00000582036.1_Missense_Mutation_p.R506W|DNAI2_ENST00000307504.5_Missense_Mutation_p.R375W Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 518 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CCGGGAGATGCGGCTGAAGGA 0.657000 Kartagener syndrome 5 200 0 0 1 0 0 ESPNP 0 broad.mit.edu 37 1 17023110 17023110 + RNA SNP G G A rs11260887 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:17023110G>A ENST00000492551.1 - 0 1753 NR_026567.1 GTTGAGCAGCGGCTGAAACCC 0.687000 11 124 0 0 1 0 0 CDC14A 8556 broad.mit.edu 37 1 100843110 100843110 + Missense_Mutation SNP C C A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:100843110C>A ENST00000370125.2 + 3 637 c.149C>A c.(148-150)gCa>gAa p.A50E CDC14A_ENST00000361544.6_Missense_Mutation_p.A50E|CDC14A_ENST00000336454.3_Missense_Mutation_p.A50E|CDC14A_ENST00000544534.1_Missense_Mutation_p.A50E|CDC14A_ENST00000542213.1_5'UTR|CDC14A_ENST00000370124.3_Missense_Mutation_p.A50E Q9UNH5 CC14A_HUMAN cell division cycle 14A 50 A. cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) AGTTTCTATGCAGATTTTGGA 0.279000 29 207 6.07407e-21 6.95579e-21 1 1 0 CAPNS1 826 broad.mit.edu 37 19 36633201 36633201 + Splice_Site SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:36633201G>A ENST00000246533.3 + 3 807 c.e3-1 CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000587718.1_Splice_Site|CAPNS1_ENST00000588815.1_Splice_Site|CAPNS1_ENST00000590874.1_Splice_Site|CAPNS1_ENST00000588780.1_Splice_Site NM_001003962.1|NM_001749.2 NP_001003962.1|NP_001740.1 P04632 CPNS1_HUMAN calpain, small subunit 1 positive regulation of cell proliferation cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCTCTTCGCAGCGAGGCGGCT 0.652000 162 435 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844888 18844888 + RNA SNP A A G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr22:18844888A>G ENST00000412938.1 + 0 3138 GCTCACGGAAATACAGCTTCA 0.587000 12 751 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96521777 96521777 + Missense_Mutation SNP T T C rs77768218 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr2:96521777T>C ENST00000456556.1 - 63 4316 c.4232A>G c.(4231-4233)cAt>cGt p.H1411R ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R ankyrin repeat domain 36C p.H662R(6)|p.H1411R(3) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AAGGTCTTCATGCTTTCTTTT 0.383000 4 143 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 14 343 0 0 1 0 0 HCK 3055 broad.mit.edu 37 20 30672204 30672204 + Silent SNP C C T rs149487671 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr20:30672204C>T ENST00000534862.1 + 9 996 c.633C>T c.(631-633)gaC>gaT p.D211D HCK_ENST00000375862.2_Silent_p.D230D|HCK_ENST00000375852.2_Silent_p.D231D|HCK_ENST00000538448.1_Silent_p.D210D|HCK_ENST00000518730.1_Silent_p.D209D|HCK_ENST00000520553.1_Silent_p.D210D NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 231 SH2. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AGGGGAACGACGGGCTCTGCC 0.602000 48 120 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79392719 79392719 + Missense_Mutation SNP G G T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:79392719G>T ENST00000370742.3 - 8 998 c.935C>A c.(934-936)tCt>tAt p.S312Y NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 312 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) GAAGTTGTCAGATGATGAAAG 0.318000 45 309 5.7616e-29 6.6516e-29 1 1 0 GDF6 392255 broad.mit.edu 37 8 97156945 97156945 + Missense_Mutation SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr8:97156945G>A ENST00000287020.5 - 2 1313 c.1214C>T c.(1213-1215)aCg>aTg p.T405M NM_001001557.2 NP_001001557.1 Q6KF10 GDF6_HUMAN growth differentiation factor 6 405 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 Breast(36;2.67e-05) GTTCATCAGCGTCTGGATGAT 0.602000 32 183 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128477594 128477594 + Missense_Mutation SNP A A G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr7:128477594A>G ENST00000325888.8 + 4 1103 c.842A>G c.(841-843)tAt>tGt p.Y281C FLNC_ENST00000346177.6_Missense_Mutation_p.Y281C NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 281 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 GCCATCGCCTATGGGCCTGGT 0.602000 136 221 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29886317 29886317 + Silent SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr22:29886317G>A ENST00000310624.6 + 4 2721 c.2688G>A c.(2686-2688)gaG>gaA p.E896E NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 902 Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 AGAAGGAAGAGGCTGAAGATA 0.512000 43 104 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 8 327 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T A rs17851045 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:25380275T>A ENST00000311936.3 - 3 374 c.183A>T c.(181-183)caA>caT p.Q61H KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 61 Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; 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.Q61H(153) 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) TGTACTCCTCTTGACCTGCTG 0.423000 Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 185 284 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4920010 4920010 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:4920010C>T ENST00000433855.1 + 1 1669 c.803C>T c.(802-804)aCg>aTg p.T268M KCNA6_ENST00000280684.3_Missense_Mutation_p.T268M NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 268 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 CTGGTGGAGACGCTGTGCATT 0.562000 HNSCC(72;0.22) 17 563 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24659593 24659593 + RNA SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr22:24659593C>T ENST00000414583.2 + 0 3118 NR_003714.1 TCACTGACATCGAAGGCTGCC 0.632000 7 109 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72398976 72398976 + Missense_Mutation SNP A A G rs147859349 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr7:72398976A>G ENST00000395270.1 + 7 1322 c.281A>G c.(280-282)aAt>aGt p.N94S POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 359 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 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) CTGGTGGCCAATGGAGTCCCC 0.468000 14 846 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195404651 195404651 + RNA SNP C C G rs1996904 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:195404651C>G ENST00000445430.1 + 0 1508 TGTCACGAATCTTGACAAATT 0.418000 7 179 0 0 1 0 0 NCOR1P1 0 broad.mit.edu 37 20 26084094 26084094 + RNA SNP T T C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr20:26084094T>C ENST00000478176.1 - 0 363 NR_003678.1 aaaacataCATTCTTAGAATA 0.299000 6 105 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40368392 40368392 + Missense_Mutation SNP T T C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:40368392T>C ENST00000221347.6 - 28 12963 c.12956A>G c.(12955-12957)gAc>gGc p.D4319G NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4319 extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCAAAGAATGTCACGGTCCCC 0.622000 42 972 0 0 1 0 0 KLK1 3816 broad.mit.edu 37 19 51322555 51322555 + Silent SNP T T G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:51322555T>G ENST00000448701.2 - 6 1702 c.378A>C c.(376-378)acA>acC p.T126T KLK1_ENST00000301420.2_Silent_p.T228T P06870 KLK1_HUMAN kallikrein 1 228 Peptidase S1. proteolysis nucleus serine-type endopeptidase activity breast(1)|large_intestine(4)|lung(7)|urinary_tract(1) 13 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGCCCCATGATGTGACACCTT 0.577000 173 246 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67802228 67802228 + Silent SNP C C A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr13:67802228C>A ENST00000544246.1 - 2 1036 c.345G>T c.(343-345)gtG>gtT p.V115V PCDH9_ENST00000456367.1_Silent_p.V115V|PCDH9_ENST00000377865.2_Silent_p.V115V|PCDH9_ENST00000377861.3_Silent_p.V115V|PCDH9_ENST00000328454.5_Silent_p.V115V NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 115 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GGAGGATCACCACCTCAAGTT 0.413000 52 548 6.34439e-16 7.09373e-16 1 1 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 10 236 0 0 1 0 0 GOLPH3 64083 broad.mit.edu 37 5 32126388 32126388 + Missense_Mutation SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr5:32126388G>A ENST00000265070.6 - 4 1142 c.827C>T c.(826-828)cCt>cTt p.P276L NM_022130.3 NP_071413.1 Q9H4A6 GOLP3_HUMAN golgi phosphoprotein 3 (coat-protein) 276 cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network protein binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 TTCCACTTCAGGGTCTAAGTC 0.542000 171 444 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37609603 37609603 + Missense_Mutation SNP G G C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr21:37609603G>C ENST00000399151.3 + 16 2751 c.2666G>C c.(2665-2667)cGg>cCg p.R889P NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 889 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 AAAGAGACCCGGGAGCATCAC 0.592000 7 302 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179579858 179579858 + Silent SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr2:179579858G>A ENST00000589042.1 - 90 26279 c.26055C>T c.(26053-26055)agC>agT p.S8685S TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.S7441S|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.S8368S|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8368 Ig-like 69. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTTCTTGCCGCTCCTAAGTT 0.443000 327 603 0 0 1 0 0 KDM6B 23135 broad.mit.edu 37 17 7752472 7752472 + Missense_Mutation SNP G G A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:7752472G>A ENST00000254846.5 + 11 3255 c.2866G>A c.(2866-2868)Gca>Aca p.A956T KDM6B_ENST00000448097.2_Missense_Mutation_p.A956T NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 956 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 GCTGCCCCCCGCACAGGCCAA 0.692000 4 76 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18778584 18778584 + RNA SNP A A G rs3984302 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr22:18778584A>G ENST00000412448.1 - 0 821 CCCAATCTCCAAGCACTGCTT 0.607000 8 93 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31625970 31625970 + Silent SNP G G T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr2:31625970G>T ENST00000379416.3 - 3 189 c.141C>A c.(139-141)ggC>ggA p.G47G NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 47 2Fe-2S ferredoxin-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AAGCCCCGCAGCCCCCCTCTC 0.577000 50 400 9.55421e-19 1.08536e-18 1 1 0 ROBO1 6091 broad.mit.edu 37 3 78734918 78734918 + Missense_Mutation SNP C C A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:78734918C>A ENST00000436010.2 - 8 2200 c.1203G>T c.(1201-1203)aaG>aaT p.K401N ROBO1_ENST00000467549.1_Missense_Mutation_p.K404N|ROBO1_ENST00000464233.1_Missense_Mutation_p.K440N|ROBO1_ENST00000495273.1_Missense_Mutation_p.K404N Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 440 Ig-like C2-type 4. 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) CCAAATATGCCTTTGTGATGA 0.383000 24 60 1.74197e-06 1.84597e-06 1 1 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39262103 39262103 + Missense_Mutation SNP A A T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:39262103A>T ENST00000391415.1 + 1 520 c.463A>T c.(463-465)Agc>Tgc p.S155C NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 155 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 ccccagctgcagcatctccag 0.672000 10 106 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 9 236 0 0 1 0 0 C14orf39 317761 broad.mit.edu 37 14 60945081 60945081 + Missense_Mutation SNP C C T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr14:60945081C>T ENST00000321731.3 - 5 419 c.260G>A c.(259-261)cGt>cAt p.R87H NM_174978.2 NP_777638.2 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 87 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) TTCATGTTTACGAAAAACATC 0.264000 41 159 0 0 1 0 0 AADACL3 126767 broad.mit.edu 37 1 12785494 12785494 + Frame_Shift_Del DEL G G - rs7513079 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:12785494delG ENST00000332530.3 + 3 600 c.374delG c.(373-375)ttfs p.C125fs AADACL3_ENST00000359318.5_Frame_Shift_Del_p.C195fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 195 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ATCTGCTACTGTTTTTTTCAA 0.458 8 1299 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 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 10 1156 --- --- --- --- SNIP1 79753 broad.mit.edu 37 1 38003368 38003370 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:38003368_38003370delTCC ENST00000296215.6 - 4 1242_1244 c.1170_1172delGGA c.(1168-1173)gaa>ga p.EE390del NM_024700.3 NP_078976.2 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 1 390 Poly-Glu. production of miRNAs involved in gene silencing by miRNA nucleus protein binding breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 25 Myeloproliferative disorder(586;0.0393) AGACACTTCTTCCTCCTCCTCCT 0.448 8 783 --- --- --- --- ZCCHC11 23318 broad.mit.edu 37 1 52991403 52991403 + Frame_Shift_Del DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:52991403delT ENST00000371544.3 - 2 812 c.550delA c.(550-552)ttfs p.I184fs ZCCHC11_ENST00000355809.4_Frame_Shift_Del_p.I184fs|ZCCHC11_ENST00000257177.4_Frame_Shift_Del_p.I184fs|ZCCHC11_ENST00000371541.1_5'UTR NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 184 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GAGCTTGGAATTTTTTTTCCA 0.408 8 1325 --- --- --- --- TNNI3K 51086 broad.mit.edu 37 1 74957824 74957826 + In_Frame_Del DEL CTT CTT - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:74957824_74957826delCTT ENST00000370891.2 + 25 2544_2546 c.2528_2530delCTT c.(2527-2532)cct>c p.PS843del LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.1_In_Frame_Del_p.PS843del|TNNI3K_ENST00000326637.3_In_Frame_Del_p.PS742del NM_001112808.2 NP_001106279.1 TNNI3 interacting kinase cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 76 TCTCTCTCACCTTCTTCTTCTTC 0.473 12 1155 --- --- --- --- LPAR3 23566 broad.mit.edu 37 1 85331664 85331665 + Frame_Shift_Ins INS - - A rs76299065 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:85331664_85331665insA ENST00000440886.1 - 1 177_178 c.139_140insT c.(139-141)taafs p.*47fs LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Frame_Shift_Ins_p.*47fs Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 47 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 CAGAGAATTAGAAAAAAAAATA 0.401 13 792 --- --- --- --- CCDC18 343099 broad.mit.edu 37 1 93667516 93667516 + Frame_Shift_Del DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:93667516delA ENST00000343253.7 + 7 1268 c.766delA c.(766-768)aafs p.K258fs CCDC18_ENST00000338949.4_Frame_Shift_Del_p.K57fs|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Frame_Shift_Del_p.K258fs|CCDC18_ENST00000557479.1_Frame_Shift_Del_p.K376fs Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 258 p.V377fs*15(1) breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) CCAACAATATAAAAAAAAAGT 0.318 8 245 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del|TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 8 1396 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210446 143210446 + RNA DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:143210446delT ENST00000412204.2 - 0 624 RP11-782C8.1_ENST00000438000.1_lincRNA GTCCATATACTAAAAAGGTTA 0.284 11 121 --- --- --- --- RP11-782C8.1 0 broad.mit.edu 37 1 143217265 143217266 + RNA INS - - A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:143217265_143217266insA ENST00000438000.1 + 0 59 GTTAGTAAAGCAAAAAAAAAAC 0.282 7 56 --- --- --- --- HFE2 148738 broad.mit.edu 37 1 145415369 145415371 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:145415369_145415371delGAG ENST00000336751.5 + 3 426_428 c.188_190delGAG c.(187-192)cga>c p.RG63del HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_Intron NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 63 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGCACTTCGAGGAGGAGGAGG 0.626 11 386 --- --- --- --- POLR3GL 84265 broad.mit.edu 37 1 145457040 145457042 + In_Frame_Del DEL TCT TCT - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:145457040_145457042delTCT ENST00000369314.1 - 7 625_627 c.519_521delAGA c.(517-522)gag>ga p.EE173del POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del NM_032305.1 NP_115681.1 Q9BT43 RPC7L_HUMAN polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like 173 Glu-rich. endometrium(2)|large_intestine(1)|lung(1) 4 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ctcttccttctcttcttcttctt 0.448 7 189 --- --- --- --- POU2F1 5451 broad.mit.edu 37 1 167385016 167385018 + In_Frame_Del DEL CCA CCA - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:167385016_167385018delCCA ENST00000367862.5 + 16 2472_2474 c.2237_2239delCCA c.(2236-2241)tcc>t p.ST746del POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000420254.3_Intron NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 734 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 GGGGCTGCGTCCACCACCACCAC 0.601 10 1041 --- --- --- --- SRGAP2 23380 broad.mit.edu 37 1 206574946 206574948 + In_Frame_Del DEL ACA ACA - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:206574946_206574948delACA ENST00000414007.1 + 4 578_580 c.578_580delACA c.(577-582)tac>t p.YN193del SRGAP2_ENST00000419187.2_5'UTR O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 333 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) ATGGAGATGTACAACAACGTCTT 0.532 8 122 --- --- --- --- TRIM17 51127 broad.mit.edu 37 1 228596935 228596935 + Frame_Shift_Del DEL G G - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:228596935delG ENST00000366697.2 - 5 1777 c.821delC c.(820-822)cafs p.P274fs RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000295033.3_Frame_Shift_Del_p.P274fs|TRIM17_ENST00000456946.2_Frame_Shift_Del_p.P274fs|TRIM17_ENST00000366698.2_Frame_Shift_Del_p.P274fs Q9Y577 TRI17_HUMAN tripartite motif containing 17 274 protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) GGGTCTGGTTGGGGGGGCAAC 0.582 8 762 --- --- --- --- OR2T33 391195 broad.mit.edu 37 1 248437112 248437112 + Frame_Shift_Del DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr1:248437112delT ENST00000318021.2 - 1 26 c.5delA c.(4-6)ggfs p.E2fs NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|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;0.0245) ATTTCTCATCTCCATAATTTC 0.428 7 607 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 11 564 --- --- --- --- FOXN2 3344 broad.mit.edu 37 2 48573666 48573667 + Frame_Shift_Ins INS - - A TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr2:48573666_48573667insA ENST00000340553.3 + 3 574_575 c.313_314insA c.(313-315)aaafs p.K105fs NM_002158.3 NP_002149.2 P32314 FOXN2_HUMAN forkhead box N2 105 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) CCAGAACCCAGAAAAAAAATCA 0.431 7 833 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 10 428 --- --- --- --- TMEM40 55287 broad.mit.edu 37 3 12790198 12790200 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:12790198_12790200delGAG ENST00000314124.7 - 3 521_523 c.165_167delCTC c.(163-168)tct>tc p.SS69del TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 69 Ser-rich. integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 tgaggaggaagaggaggaggagg 0.419 7 932 --- --- --- --- NKTR 4820 broad.mit.edu 37 3 42680269 42680271 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:42680269_42680271delGAG ENST00000232978.8 + 13 3261_3263 c.3073_3075delGAG c.(3073-3075)del p.E1029del RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 1029 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) ATTTGGTGAAGAGGAGGAGGAGG 0.355 7 504 --- --- --- --- ARIH2 10425 broad.mit.edu 37 3 48965064 48965066 + In_Frame_Del DEL GAA GAA - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:48965064_48965066delGAA ENST00000356401.4 + 3 412_414 c.73_75delGAA c.(73-75)del p.E29del ARIH2_ENST00000449376.1_In_Frame_Del_p.E29del|ARIH2_ENST00000490095.1_Intron NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 29 Asp/Glu-rich (acidic).|Poly-Glu. E -> D (in dbSNP:rs34221642). developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.E25E(1) cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) Tgaggaagaggaagaagaagaag 0.517 11 143 --- --- --- --- QRICH1 54870 broad.mit.edu 37 3 49094314 49094316 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:49094314_49094316delTGC ENST00000395443.2 - 3 1789_1791 c.1317_1319delGCA c.(1315-1320)caa>ca p.QQ439del QRICH1_ENST00000357496.2_In_Frame_Del_p.QQ439del|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_In_Frame_Del_p.QQ439del NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 439 Gln-rich. breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) AACTTGGAgttgctgctgctgct 0.562 7 376 --- --- --- --- MST1 4485 broad.mit.edu 37 3 49723112 49723112 + Frame_Shift_Del DEL T T - rs11288337 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:49723112delT ENST00000449682.2 - 11 1665 c.1304delA c.(1303-1305)acfs p.N435fs MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 421 Kringle 4. 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) CCCATCTGGGTTCCGGCAGAA 0.587 11 273 --- --- --- --- ERC2 26059 broad.mit.edu 37 3 55733470 55733472 + In_Frame_Del DEL TGG TGG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:55733470_55733472delTGG ENST00000288221.6 - 16 3036_3038 c.2781_2783delCCA c.(2779-2784)cat>ca p.HH931del NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 931 Poly-His. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) gtggtggtgatggtggtggtggt 0.502 9 1001 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 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 14 1620 --- --- --- --- TRMT10C 54931 broad.mit.edu 37 3 101284009 101284009 + Frame_Shift_Del DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:101284009delA ENST00000309922.6 + 2 538 c.384delA c.(382-384)gcfs p.A128fs NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) CTAACACAGCaaaaaaaaaat 0.343 20 348 --- --- --- --- KIAA1407 57577 broad.mit.edu 37 3 113737707 113737707 + Frame_Shift_Del DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:113737707delT ENST00000295878.3 - 8 1127 c.981delA c.(979-981)aafs p.K327fs KIAA1407_ENST00000545063.1_Frame_Shift_Del_p.K158fs NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 327 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 CGAAATACCGTTTTTGACACT 0.478 7 1648 --- --- --- --- IQCB1 9657 broad.mit.edu 37 3 121515999 121515999 + Frame_Shift_Del DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:121515999delA ENST00000310864.6 - 9 1056 c.842delT c.(841-843)tafs p.L281fs IQCB1_ENST00000349820.6_Intron NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 281 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) CATTGGGCTTAAAAGGCCAAC 0.358 8 743 --- --- --- --- UROC1 131669 broad.mit.edu 37 3 126220106 126220106 + Frame_Shift_Del DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:126220106delT ENST00000290868.2 - 10 973 c.920delA c.(919-921)agfs p.K307fs UROC1_ENST00000383579.3_Frame_Shift_Del_p.K367fs NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 307 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) GAGCACCTCCTTTTTTTTCCT 0.587 10 1448 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:129370576_129370578delCTG ENST00000393238.3 - 6 2048_2050 c.1708_1710delCAG c.(1708-1710)del p.Q570del TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 570 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GCTGCACCACCTGCTGCTGCTGC 0.581 13 498 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129546680 129546682 + In_Frame_Del DEL GCA GCA - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 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 7 351 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 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 7 553 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.493 8 1515 --- --- --- --- ABCC5 10057 broad.mit.edu 37 3 183665257 183665257 + Frame_Shift_Del DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 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 7 192 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19815895 19815895 + RNA DEL A A - rs145239076 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr4:19815895delA ENST00000511431.1 + 0 288 TCTGGGCTGTaaaaaaaaaaa 0.413 7 37 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr4:41648508_41648509delGA ENST00000313860.7 + 12 1317_1318 c.1263_1264delGA c.(1261-1266)cggafs p.RR421fs LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 421 actomyosin structure organization actin binding|zinc ion binding p.E810fs*3(1)|p.E425fs*3(1) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TTAGAGAGCGGAGAGAGAGAGA 0.465 20 637 --- --- --- --- PRDM8 56978 broad.mit.edu 37 4 81123250 81123252 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 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) 12 291 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618431 89618433 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr4:89618431_89618433delCCT ENST00000323061.5 - 1 953_955 c.473_475delAGG c.(472-477)gct>g p.EA158del HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 158 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) TCTGCCGCAGcctcctcctcctc 0.626 7 617 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618484 89618486 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr4:89618484_89618486delTCC ENST00000323061.5 - 1 900_902 c.420_422delGGA c.(418-423)gaa>ga p.EE142del HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 142 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) gtactcctcttcctcctcctcct 0.606 12 357 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140810639 140810641 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr4:140810639_140810641delGCT ENST00000509479.2 - 2 2805_2807 c.1949_1951delAGC c.(1948-1953)ccg>c p.QP650del MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del|MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 646 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) GGAGGTGGCGgctgctgctgctg 0.586 12 341 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140811064 140811069 + In_Frame_Del DEL TGCTGC TGCTGC - rs71855026 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr4:140811064_140811069delTGCTGC ENST00000509479.2 - 2 2377_2382 c.1521_1526delGCAGCA c.(1519-1527)caa>ca p.QQQ507del MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 506 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGAGtgctgttgctgctgctgctgct 0.515 35 453 --- --- --- --- FHDC1 85462 broad.mit.edu 37 4 153896047 153896048 + Frame_Shift_Ins INS - - C TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr4:153896047_153896048insC ENST00000511601.1 + 12 1792_1793 c.1604_1605insC c.(1603-1605)aacfs p.N535fs FHDC1_ENST00000260008.3_Frame_Shift_Ins_p.N535fs Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 535 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) CGGCCCCCGAACACCCGCCGCT 0.663 9 79 --- --- --- --- IL7R 3575 broad.mit.edu 37 5 35874637 35874637 + Frame_Shift_Del DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr5:35874637delA ENST00000303115.3 + 6 922 c.793delA c.(793-795)aafs p.K266fs IL7R_ENST00000506850.1_Intron|IL7R_ENST00000343305.4_Intron NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 266 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TGTGTTATGGAAAAAAAGGTG 0.428 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 8 687 --- --- --- --- RASGRF2 5924 broad.mit.edu 37 5 80409566 80409568 + In_Frame_Del DEL CCA CCA - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr5:80409566_80409568delCCA ENST00000265080.4 + 15 2364_2366 c.2297_2299delCCA c.(2296-2301)ccc>c p.PT766del CTD-2193P3.2_ENST00000508993.1_RNA NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 766 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TCCAGCAGTCCCACCACCACCAC 0.562 7 331 --- --- --- --- DEK 7913 broad.mit.edu 37 6 18264079 18264081 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr6:18264079_18264081delTCC ENST00000397239.3 - 2 585_587 c.138_140delGGA c.(136-141)gaa>ga p.EE46del DEK_ENST00000244776.7_In_Frame_Del_p.EE46del NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 46 Asp/Glu-rich (highly acidic). chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CCCACCTTTTtcctcctcctcct 0.532 T NUP214 AML 7 355 --- --- --- --- HLA-F-AS1 0 broad.mit.edu 37 6 29711944 29711944 + RNA DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr6:29711944delT ENST00000458236.1 - 0 349 AAAAAGGGCCTTGTGACACAC 0.512 7 5 --- --- --- --- UHRF1BP1 54887 broad.mit.edu 37 6 34804004 34804006 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr6:34804004_34804006delCAG ENST00000192788.5 + 8 1083_1085 c.912_914delCAG c.(910-915)aac>aa p.NS304del UHRF1BP1_ENST00000452449.2_In_Frame_Del_p.NS304del NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 304 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 GCAACAGCAACAGCAGCAGCAGC 0.552 9 1151 --- --- --- --- MAP3K7 6885 broad.mit.edu 37 6 91296568 91296570 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr6:91296568_91296570delGAG ENST00000369329.3 - 1 194_196 c.33_35delCTC c.(31-36)tcg>tc p.SS13del MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 13 Poly-Ser. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) GGCCGAAGACGAGGAGGAGGAGG 0.655 8 125 --- --- --- --- SOGA3 387104 broad.mit.edu 37 6 127804080 127804080 + Frame_Shift_Del DEL T T - rs34142169 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr6:127804080delT ENST00000556132.1 - 5 2399 c.1535delA c.(1534-1536)agfs p.K512fs SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 512 integral to membrane CTGTTGAGCCTTTTTTTCAGA 0.294 7 481 --- --- --- --- CCDC28A 25901 broad.mit.edu 37 6 139097330 139097330 + Frame_Shift_Del DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr6:139097330delA ENST00000332797.6 + 2 498 c.343delA c.(343-345)aafs p.K116fs NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 116 p.N117fs*5(2) autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) TGTCAATGCCAAAAAAAATGC 0.413 9 456 --- --- --- --- SHPRH 257218 broad.mit.edu 37 6 146264834 146264836 + In_Frame_Del DEL ATC ATC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr6:146264834_146264836delATC ENST00000367503.3 - 9 2079_2081 c.1681_1683delGAT c.(1681-1683)del p.D561del SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del|SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 561 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) AATAGTAAGGATCATCATCATCA 0.360 7 604 --- --- --- --- SYNJ2 8871 broad.mit.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr6:158508009delC ENST00000355585.4 + 23 3406 c.3331delC c.(3331-3333)ccfs p.P1114fs SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs|SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1114 Pro-rich. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding p.P1113fs*5(1) biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CCCGCAGAGACCCCCCCCTCC 0.637 7 249 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 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 12 108 --- --- --- --- TWISTNB 221830 broad.mit.edu 37 7 19738111 19738113 + In_Frame_Del DEL TTC TTC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr7:19738111_19738113delTTC ENST00000222567.5 - 4 913_915 c.843_845delGAA c.(841-846)aaa>aa p.KK281del NM_001002926.1 NP_001002926.1 Q3B726 RPA43_HUMAN TWIST neighbor 281 Lys-rich. microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 20 CTGGTGCTTTTTCTTCTTCTTCT 0.433 8 2248 --- --- --- --- HOXA1 3198 broad.mit.edu 37 7 27135314 27135316 + In_Frame_Del DEL CGA CGA - rs10951154 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr7:27135314_27135316delCGA ENST00000343060.4 - 1 277_279 c.216_218delTCG c.(214-219)cac>ca p.HR72del HOXA1_ENST00000355633.5_In_Frame_Del_p.HR72del|HOTAIRM1_ENST00000495032.1_RNA NM_005522.4 NP_005513.1 P49639 HXA1_HUMAN homeobox A1 72 Poly-His. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Ctgggggtggcgatggtggtggt 0.650 OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 239 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 10 610 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150816 65150816 + RNA DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr7:65150816delA ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCC 0.463 11 88 --- --- --- --- GTF2IRD1P1 0 broad.mit.edu 37 7 66304731 66304731 + RNA DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr7:66304731delT ENST00000457166.1 - 0 189 NR_003934.1 TTTCTTTCCCttttttttttt 0.512 8 33 --- --- --- --- TRBV7-4 0 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 12 278 --- --- --- --- MTMR9 66036 broad.mit.edu 37 8 11162509 11162509 + Frame_Shift_Del DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr8:11162509delA ENST00000221086.3 + 4 1050 c.577delA c.(577-579)aafs p.K194fs MTMR9_ENST00000526292.1_Frame_Shift_Del_p.K109fs NM_015458.3 NP_056273.2 Q96QG7 MTMR9_HUMAN myotubularin related protein 9 194 Myotubularin phosphatase. K -> R (in Ref. 2; BAA91170). cytoplasm phosphatase activity|protein binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 16 STAD - Stomach adenocarcinoma(15;0.215) COAD - Colon adenocarcinoma(149;0.0678) CTATTACCACAAAAAAAATGG 0.453 7 309 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22020159 22020161 + In_Frame_Del DEL GTG GTG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr8:22020159_22020161delGTG ENST00000521315.1 + 2 147_149 c.115_117delGTG c.(115-117)del p.V44del SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del P11686 PSPC_HUMAN surfactant protein C 44 respiratory gaseous exchange extracellular space autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CCTTCTTATCGTGGTGGTGGTGG 0.601 7 567 --- --- --- --- RAB11FIP1 80223 broad.mit.edu 37 8 37728933 37728933 + Frame_Shift_Del DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr8:37728933delT ENST00000330843.4 - 4 3399 c.3387delA c.(3385-3387)aafs p.K1129fs RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 1129 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) CTGCTGTGGCTTTTTTTTGAG 0.542 OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 989 --- --- --- --- SULF1 23213 broad.mit.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr8:70514026delT ENST00000260128.4 + 10 1740 c.1023delT c.(1021-1023)ccfs p.P341fs SULF1_ENST00000402687.4_Frame_Shift_Del_p.P341fs|SULF1_ENST00000458141.2_Frame_Shift_Del_p.P341fs|SULF1_ENST00000419716.3_Frame_Shift_Del_p.P341fs|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 341 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTCGTGTGCCTTTTTTTATTC 0.408 7 1556 --- --- --- --- C8orf59 401466 broad.mit.edu 37 8 86129664 86129664 + Frame_Shift_Del DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr8:86129664delT ENST00000417663.2 - 2 136 c.65delA c.(64-66)acfs p.N22fs C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1 NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1 Q8N0T1 CH059_HUMAN chromosome 8 open reading frame 59 22 AGCCTTAAAGTTTTTTTGGCT 0.343 15 1099 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103289348 103289349 + Frame_Shift_Ins INS - - T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr8:103289348_103289349insT ENST00000520539.1 - 45 6966_6967 c.6360_6361insA c.(6358-6363)aaaaggfs p.R2121fs UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2121 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding p.E2121fs*28(2) NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCTTCCCCTTCTTTTTTTTGCC 0.381 7 990 --- --- --- --- OXR1 55074 broad.mit.edu 37 8 107704955 107704955 + Splice_Site DEL G G - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr8:107704955delG ENST00000445937.1 + 7 786 c.e7-1 OXR1_ENST00000517566.2_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000442977.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) AAAAAAAAAAGAATCCTGATG 0.348 10 433 --- --- --- --- MYC 4609 broad.mit.edu 37 8 128750605 128750607 + In_Frame_Del DEL CAG CAG - rs61752959 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr8:128750605_128750607delCAG ENST00000377970.2 + 2 652_654 c.142_144delCAG c.(142-144)del p.Q52del MYC_ENST00000524013.1_In_Frame_Del_p.Q51del|MYC_ENST00000259523.6_In_Frame_Del_p.Q37del NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 37 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity p.Q33H(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) GAACTTCTACCAGCAGCAGCAGC 0.611 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 622 --- --- --- --- CYP11B2 1585 broad.mit.edu 37 8 143993951 143993953 + In_Frame_Del DEL GCA GCA - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr8:143993951_143993953delGCA ENST00000323110.2 - 8 1393_1395 c.1391_1393delTGC c.(1390-1395)cac>c p.LH464del NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 464 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CTTACGTGGTGCAGCAGCAGCAG 0.685 Familial Hyperaldosteronism type I 7 463 --- --- --- --- PLEC 5339 broad.mit.edu 37 8 145000951 145000953 + Splice_Site DEL CCT CCT - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr8:145000951_145000953delCCT ENST00000322810.4 - 30 4623_4625 c.4455_splice c.e30+1 p.G1485_splice PLEC_ENST00000354958.2_Splice_Site_p.G1326_splice|PLEC_ENST00000345136.3_Splice_Site_p.G1348_splice|PLEC_ENST00000398774.2_Splice_Site_p.G1316_splice|PLEC_ENST00000436759.2_Splice_Site_p.G1375_splice|PLEC_ENST00000357649.2_Splice_Site_p.G1352_splice|PLEC_ENST00000527096.1_Splice_Site_p.G1371_splice|PLEC_ENST00000354589.3_Splice_Site_p.G1348_splice|PLEC_ENST00000356346.3_Splice_Site_p.G1334_splice NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1485 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACGGGCTGTACCTCCTCCTCCTC 0.621 7 943 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000489369.1_3'UTR NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1039 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCTTGAAGAAGAGGAGGAGGAGG 0.463 8 584 --- --- --- --- ASTN2 23245 broad.mit.edu 37 9 119976989 119976991 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr9:119976989_119976991delCAG ENST00000313400.4 - 3 761_763 c.661_663delCTG c.(661-663)del p.L221del ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del O75129 ASTN2_HUMAN astrotactin 2 221 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CGGTGAACACCAGCAGCAGCAGC 0.601 8 239 --- --- --- --- TSC1 0 broad.mit.edu 37 9 135771988 135771990 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr9:135771988_135771990delGCT ENST00000298552.3 - 23 3348_3350 c.3127_3129delAGC c.(3127-3129)del p.S1043del TSC1_ENST00000545250.1_In_Frame_Del_p.S992del|TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 1043 Poly-Ser. activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.S1043N(1)|p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TAGAAAGCTCgctgctgctgctg 0.640 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 7 204 --- --- --- --- FAM171A1 221061 broad.mit.edu 37 10 15254987 15254989 + In_Frame_Del DEL TCA TCA - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr10:15254987_15254989delTCA ENST00000378116.4 - 8 2604_2606 c.2598_2600delTGA c.(2596-2601)gac>ga p.DD866del NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 866 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TTCTCCTTGGTCATCATCATCAT 0.571 8 1089 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 8 498 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 11 885 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 12 648 --- --- --- --- AP2A2 161 broad.mit.edu 37 11 970195 970195 + Frame_Shift_Del DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr11:970195delA ENST00000448903.2 + 3 304 c.163delA c.(163-165)aafs p.K57fs AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 57 Lipid-binding. axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity p.K57fs*24(1) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) TGGCTATAGTAAAAAAAAGTA 0.488 7 736 --- --- --- --- FTH1 2495 broad.mit.edu 37 11 61732517 61732517 + Frame_Shift_Del DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr11:61732517delT ENST00000273550.7 - 3 563 c.329delA c.(328-330)atfs p.N110fs FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs NM_002032.2 NP_002023.2 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 110 Ferritin-like diiron. cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) CTGATTCACATTTTTTTCCAA 0.423 7 1266 --- --- --- --- KRTAP5-7 440050 broad.mit.edu 37 11 71238416 71238436 + In_Frame_Del DEL TGTGGCTCTGGCTGTGGGGGA TGTGGCTCTGGCTGTGGGGGA - rs71931178 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr11:71238416_71238436delTGTGGCTCTGGCTGTGGGGGA ENST00000398536.4 + 1 104_124 c.70_90delTGTGGCTCTGGCTGTGGGGGA c.(70-90)del p.CGSGCGG24del NM_001012503.1 NP_001012521.1 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 24 keratin filament p.G30G(1) breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1) 12 CTGTGGGGGCTGTGGCTCTGGCTGTGGGGGATGTGGCTCCA 0.665 7 1245 --- --- --- --- TAS2R42 353164 broad.mit.edu 37 12 11338799 11338799 + Frame_Shift_Del DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:11338799delA ENST00000334266.1 - 1 744 c.745delT c.(745-747)ccfs p.S249fs NM_181429.1 NP_852094.1 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 249 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(49;0.0455) ACTTGTAAGGAAAAAAAATGA 0.423 10 516 --- --- --- --- CCNT1 904 broad.mit.edu 37 12 49087434 49087436 + In_Frame_Del DEL ATG ATG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:49087434_49087436delATG ENST00000261900.3 - 9 1783_1785 c.1561_1563delCAT c.(1561-1563)del p.H521del NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 521 His-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 AGTGGTGATTATGATGATGATGA 0.443 32 1941 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 12 1427 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - rs75456529 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:55759192delT ENST00000343399.3 + 1 298 c.298delT c.(298-300)ttfs p.F102fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGCTCAGCTATTTTTTTTCAT 0.438 8 852 --- --- --- --- OR6C65 403282 broad.mit.edu 37 12 55794610 55794610 + Frame_Shift_Del DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:55794610delT ENST00000379665.2 + 1 397 c.298delT c.(298-300)ttfs p.F101fs NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L102fs*1(1) cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 GGCCCAAGTATTTTTTTTAAT 0.358 11 834 --- --- --- --- TMTC3 160418 broad.mit.edu 37 12 88566417 88566417 + Frame_Shift_Del DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:88566417delT ENST00000266712.6 + 8 1314 c.1094delT c.(1093-1095)ctfs p.L365fs NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 365 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 GCATCGAACCTTTTTTTTCCA 0.313 7 659 --- --- --- --- RPLP0 6175 broad.mit.edu 37 12 120634652 120634654 + In_Frame_Del DEL GCA GCA - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:120634652_120634654delGCA ENST00000551150.1 - 7 1191_1193 c.876_878delTGC c.(874-879)gca>gc p.AA292del RPLP0_ENST00000552292.1_In_Frame_Del_p.AA82del|RPLP0_ENST00000313104.5_In_Frame_Del_p.AA230del|RPLP0_ENST00000546989.1_In_Frame_Del_p.AA256del|RPLP0_ENST00000228306.4_In_Frame_Del_p.AA292del|RPLP0_ENST00000392514.4_In_Frame_Del_p.AA292del P05388 RLA0_HUMAN ribosomal protein, large, P0 292 endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus protein binding|RNA binding|structural constituent of ribosome breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGCTGGGGCTgcagcagcagcag 0.557 7 339 --- --- --- --- POP5 51367 broad.mit.edu 37 12 121017154 121017156 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr12:121017154_121017156delCTC ENST00000341039.2 - 4 323_325 c.307_309delGAG c.(307-309)del p.E103del POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del NM_198202.1 NP_937845.1 Q969H6 POP5_HUMAN processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae) 153 tRNA processing protein binding|ribonuclease P activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 all_neural(191;0.077)|Medulloblastoma(191;0.0922) CCTCACCTGACTCCTCCTCCTCC 0.517 7 521 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000390680.2_Intron Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 7 403 --- --- --- --- RBM26 64062 broad.mit.edu 37 13 79918806 79918807 + Frame_Shift_Ins INS - - T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr13:79918806_79918807insT ENST00000438737.2 - 15 2621_2622 c.2181_2182insA c.(2179-2184)aaaggafs p.G728fs RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs|RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 728 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) GTACTTACCTGTTTTTTTTTCT 0.332 15 342 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518338 108518338 + Frame_Shift_Del DEL C C - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr13:108518338delC ENST00000375915.2 - 1 745 c.607delG c.(607-609)acfs p.D203fs NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 203 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 TCCTGCCCGTCCCCCCCGGCC 0.607 13 948 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr13:108518687_108518689delCTG ENST00000375915.2 - 1 394_396 c.256_258delCAG c.(256-258)del p.Q86del NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 86 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 gccgctgcctctgctgctgctgc 0.719 23 287 --- --- --- --- OR11H12 440153 broad.mit.edu 37 14 19378219 19378219 + Frame_Shift_Del DEL G G - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr14:19378219delG ENST00000550708.1 + 1 698 c.626delG c.(625-627)aafs p.R209fs NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTGCCCCAAGAATCCAACTG 0.428 10 363 --- --- --- --- RP11-597A11.6 0 broad.mit.edu 37 14 20146543 20146544 + RNA INS - - GTCCC rs60511353 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr14:20146543_20146544insGTCCC ENST00000555580.1 - 0 225 CCAACTCAGCAGAACAGTGTCA 0.505 9 372 --- --- --- --- AE000661.37 0 broad.mit.edu 37 14 22933391 22933391 + RNA DEL C C - rs36090939 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr14:22933391delC ENST00000514473.2 - 0 225 TRDC_ENST00000390477.2_RNA|AE000661.37_ENST00000556777.1_RNA TTAGAAATGGCTAAGAAACCA 0.408 20 16 --- --- --- --- TRAC 0 broad.mit.edu 37 14 23020942 23020942 + RNA DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr14:23020942delT ENST00000478163.3 + 0 819 GAGGGGTTTATTTTTTTTTAA 0.468 8 296 --- --- --- --- RP11-407N17.3 0 broad.mit.edu 37 14 39746242 39746243 + Frame_Shift_Ins INS - - T rs75842899 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr14:39746242_39746243insT ENST00000553728.1 + 6 1986_1987 c.1773_1774insT c.(1771-1776)ctttttfs p.LF591fs CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs TTGCTGTTCTCTTTTTTTTGTG 0.371 8 580 --- --- --- --- ZBTB1 22890 broad.mit.edu 37 14 64989787 64989787 + Frame_Shift_Del DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr14:64989787delA ENST00000358738.3 + 2 1956 c.1565delA c.(1564-1566)cafs p.Q522fs RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000554015.1_Frame_Shift_Del_p.Q522fs|ZBTB1_ENST00000394712.2_Frame_Shift_Del_p.Q522fs NM_014950.2 NP_055765.2 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 522 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) AACAGTATCCAAAAAAAGCAG 0.378 7 1192 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397924 93397926 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr14:93397924_93397926delGAG ENST00000216492.5 + 6 965_967 c.685_687delGAG c.(685-687)del p.E236del CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron 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 13 197 --- --- --- --- SYNE3 161176 broad.mit.edu 37 14 95921888 95921890 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr14:95921888_95921890delCTC ENST00000334258.5 - 5 975_977 c.961_963delGAG c.(961-963)del p.E321del SYNE3_ENST00000557275.1_In_Frame_Del_p.E321del|SYNE3_ENST00000554873.1_In_Frame_Del_p.E78del|SYNE3_ENST00000553340.1_In_Frame_Del_p.E321del NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCCGCAGCCGCTCCTCCTCCTCC 0.616 11 848 --- --- --- --- ATG2B 55102 broad.mit.edu 37 14 96783571 96783572 + Frame_Shift_Ins INS - - T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr14:96783571_96783572insT ENST00000359933.4 - 20 4013_4014 c.3120_3121insA c.(3118-3123)aatagafs p.NR1040fs NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1040 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TGAGAGTCTAATTTTTTTTTCC 0.371 9 440 --- --- --- --- YY1 7528 broad.mit.edu 37 14 100705708 100705710 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr14:100705708_100705710delGAG ENST00000262238.4 + 1 387_389 c.127_129delGAG c.(127-129)del p.E47del NM_003403.3 NP_003394.1 P25490 TYY1_HUMAN YY1 transcription factor 47 Asp/Glu-rich (acidic). cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis Ino80 complex|nuclear matrix|plasma membrane four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding p.E43delE(1) cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1) 11 Melanoma(154;0.152) AGTggtgggcgaggaggaggagg 0.719 8 69 --- --- --- --- IGHV3-43 0 broad.mit.edu 37 14 106926502 106926503 + RNA DEL AC AC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr14:106926502_106926503delAC ENST00000434710.1 - 0 126 ACACCTGCAAACACAGAGACAC 0.520 7 950 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709885 22709885 + RNA DEL G G - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr15:22709885delG ENST00000314246.8 - 0 1069 TATCTAATGTGGGGGGGGCTG 0.537 28 132 --- --- --- --- SRP14 6727 broad.mit.edu 37 15 40328597 40328599 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr15:40328597_40328599delTGC ENST00000267884.6 - 5 417_419 c.346_348delGCA c.(346-348)del p.A116del SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 116 Ala/Thr-rich. negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) ctgcggcaggtgctgctgctgct 0.478 20 528 --- --- --- --- TMOD3 29766 broad.mit.edu 37 15 52161562 52161562 + Frame_Shift_Del DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr15:52161562delA ENST00000308580.7 + 3 556 c.275delA c.(274-276)gafs p.E92fs TMOD3_ENST00000544199.1_Frame_Shift_Del_p.E92fs NM_014547.4 NP_055362.1 Q9NYL9 TMOD3_HUMAN tropomodulin 3 (ubiquitous) 92 cytoplasm|cytoskeleton actin binding|tropomyosin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1) 14 all cancers(107;0.00194) TACACTGGAGAAAAAAAAGGT 0.388 8 571 --- --- --- --- TCF12 6938 broad.mit.edu 37 15 57489984 57489984 + Frame_Shift_Del DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr15:57489984delA ENST00000267811.5 + 8 844 c.540delA c.(538-540)gcfs p.A180fs TCF12_ENST00000557843.1_Frame_Shift_Del_p.A180fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.A176fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.A180fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.A180fs NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 180 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) CCTTGCAAGCAAAAAAAGTCA 0.343 T TEC extraskeletal myxoid chondrosarcoma 8 663 --- --- --- --- CGNL1 84952 broad.mit.edu 37 15 57823890 57823890 + Frame_Shift_Del DEL C C - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr15:57823890delC ENST00000281282.5 + 14 3282 c.3204delC c.(3202-3204)gafs p.D1068fs NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 1068 D -> A (in Ref. 1; AAT37906). myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) CTTCTTAGGACAAGGTGTCTC 0.448 190 623 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 10 241 --- --- --- --- ZNF598 90850 broad.mit.edu 37 16 2049882 2049883 + In_Frame_Ins INS - - TCC rs61746014 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:2049882_2049883insTCC ENST00000563630.1 - 9 1744_1745 c.1502_1503insGGA c.(1501-1503)ggg>gGGAgg p.501_502insR ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR Q86UK7 ZN598_HUMAN zinc finger protein 598 556 intracellular zinc ion binding p.E555_D556insE(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CCGGGCCGCCGTCCTCCTCCTC 0.703 16 21 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 15 1431 --- --- --- --- SLC5A11 115584 broad.mit.edu 37 16 24921737 24921739 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:24921737_24921739delCAG ENST00000347898.3 + 15 2383_2385 c.1761_1763delCAG c.(1759-1764)gcc>gc p.AS587del SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 587 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) TGCCAGAGGCCAGCAGCAGCAGC 0.542 10 419 --- --- --- --- IL4R 3566 broad.mit.edu 37 16 27373787 27373789 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:27373787_27373789delGAG ENST00000395762.2 + 11 1373_1375 c.1114_1116delGAG c.(1114-1116)del p.E376del IL4R_ENST00000543915.2_In_Frame_Del_p.E376del|IL4R_ENST00000170630.2_In_Frame_Del_p.E376del|IL4R_ENST00000565915.1_3'UTR|IL4R_ENST00000380922.3_In_Frame_Del_p.E361del NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 376 Poly-Glu. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GGTGGAGTGTGAGGAGGAGGAGG 0.591 8 327 --- --- --- --- TAOK2 9344 broad.mit.edu 37 16 29994531 29994533 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:29994531_29994533delGAG ENST00000308893.4 + 12 2181_2183 c.1138_1140delGAG c.(1138-1140)del p.E392del TAOK2_ENST00000543033.1_In_Frame_Del_p.E392del|TAOK2_ENST00000416441.2_In_Frame_Del_p.E219del|TAOK2_ENST00000279394.3_In_Frame_Del_p.E392del NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 392 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CAACgaggaagaggaggaggagg 0.611 16 365 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:30365550_30365552delCAT ENST00000305596.3 - 3 345_347 c.170_172delATG c.(169-174)ggg>g p.DG57del CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 57 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CTGGACCCCCCATCATCATCATC 0.532 14 1815 --- --- --- --- MYLPF 29895 broad.mit.edu 37 16 30389182 30389182 + Frame_Shift_Del DEL C C - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:30389182delC ENST00000322861.7 + 7 552 c.471delC c.(469-471)tgfs p.C157fs NM_013292.3 NP_037424.2 Q96A32 MLRS_HUMAN myosin light chain, phosphorylatable, fast skeletal muscle 157 EF-hand 3. skeletal muscle tissue development muscle myosin complex calcium ion binding|structural constituent of muscle large_intestine(2)|lung(4) 6 Colorectal(24;0.193) AAAACATCTGCTACGTCATCA 0.672 52 350 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:30982809_30982811delTCC ENST00000262519.8 + 13 3813_3815 c.3127_3129delTCC c.(3127-3129)del p.S1058del NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1058 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CAGctcctcatcctcctcctcct 0.547 8 510 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:55362674_55362676delGAG ENST00000290552.7 + 5 2116_2118 c.784_786delGAG c.(784-786)del p.E268del RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCTggaggaagaggaggaggagg 0.626 12 434 --- --- --- --- RANBP10 57610 broad.mit.edu 37 16 67763279 67763281 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:67763279_67763281delGAG ENST00000317506.3 - 10 1369_1371 c.1254_1256delCTC c.(1252-1257)tcg>tc p.SS420del RANBP10_ENST00000448631.2_In_Frame_Del_p.SS364del|RANBP10_ENST00000536251.1_In_Frame_Del_p.SS191del|RANBP10_ENST00000411657.2_In_Frame_Del_p.SS303del|RANBP10_ENST00000602677.1_In_Frame_Del_p.SS420del NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 420 Ser-rich. p.S418S(2) endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) ggaagaggacgaggaggaggagg 0.567 7 227 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913767 67913769 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:67913767_67913769delCAG ENST00000358933.5 + 16 2075_2077 c.1836_1838delCAG c.(1834-1839)ccc>cc p.PS612del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 612 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGCCTCTCCcagcagcagcagc 0.611 14 487 --- --- --- --- ADAMTS18 170692 broad.mit.edu 37 16 77356311 77356311 + Frame_Shift_Del DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr16:77356311delA ENST00000282849.5 - 14 2503 c.2085delT c.(2083-2085)ttfs p.F695fs NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 695 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.A696fs*18(2) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CGGACATTGCAAAAAAAAATT 0.403 10 616 --- --- --- --- KDM6B 23135 broad.mit.edu 37 17 7751859 7751861 + In_Frame_Del DEL CAC CAC - rs59627144 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:7751859_7751861delCAC ENST00000254846.5 + 11 2642_2644 c.2253_2255delCAC c.(2251-2256)gtc>gt p.VT751del KDM6B_ENST00000448097.2_In_Frame_Del_p.VT751del NM_001080424.1 NP_001073893.1 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 751 Pro-rich.|Thr-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 CTGTCGCCGTcaccaccaccacc 0.650 8 168 --- --- --- --- MYOCD 93649 broad.mit.edu 37 17 12647692 12647694 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:12647692_12647694delCAG ENST00000425538.1 + 8 1110_1112 c.910_912delCAG c.(910-912)del p.Q310del MYOCD_ENST00000343344.4_In_Frame_Del_p.Q310del|MYOCD_ENST00000395988.1_In_Frame_Del_p.Q214del NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 310 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AATCCTCAGCcagcagcagcagc 0.596 11 197 --- --- --- --- MED9 55090 broad.mit.edu 37 17 17394705 17394707 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:17394705_17394707delCAG ENST00000268711.3 + 2 393_395 c.337_339delCAG c.(337-339)del p.Q117del NM_018019.2 NP_060489.1 Q9NWA0 MED9_HUMAN mediator complex subunit 9 117 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent protein binding cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GAGCCCCGAACAGCAGCAGCAGC 0.581 7 554 --- --- --- --- SUZ12P 0 broad.mit.edu 37 17 29096087 29096087 + RNA DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:29096087delT ENST00000582557.1 + 0 1381 ATATTGGTAATTTTTTTTTTT 0.343 8 148 --- --- --- --- SLFN12 55106 broad.mit.edu 37 17 33749493 33749493 + Frame_Shift_Del DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:33749493delA ENST00000394562.1 - 4 1078 c.555delT c.(553-555)ttfs p.F185fs SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs Q8IYM2 SLN12_HUMAN schlafen family member 12 185 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGTTCTATCAAAAAAAACCC 0.368 11 701 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34074257 34074257 + Frame_Shift_Del DEL G G - rs139867246 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:34074257delG ENST00000254466.6 - 5 890 c.863delC c.(862-864)cgfs p.P288fs GAS2L2_ENST00000587565.1_Frame_Shift_Del_p.P272fs NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 288 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGGTGGGGCCGGGGGCTTCAG 0.597 7 1538 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340796 39340852 + In_Frame_Del DEL CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG - rs483929 by1000genomes TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG ENST00000398472.1 - 1 742_798 c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG c.(253-312)cgt>cg p.RPLCCQTTCHPSCGMSSCCR85del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 85 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. Missing (in allele KAP4.10). keratin filament p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2) kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC 0.646 11 399 --- --- --- --- RP11-156P1.3 0 broad.mit.edu 37 17 45128628 45128629 + RNA INS - - T TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:45128628_45128629insT ENST00000575173.1 - 0 418 ATTCTGGTGTGtttttttttgt 0.337 9 424 --- --- --- --- SPAG9 9043 broad.mit.edu 37 17 49157025 49157025 + Frame_Shift_Del DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr17:49157025delT ENST00000262013.7 - 2 552 c.344delA c.(343-345)agfs p.K115fs SPAG9_ENST00000357122.4_Frame_Shift_Del_p.K115fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.K115fs|RP11-481C4.1_ENST00000509833.1_RNA NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 115 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) CTGTAAGTCCTTTTTTTCCTG 0.313 7 739 --- --- --- --- LMAN1 3998 broad.mit.edu 37 18 57013194 57013194 + Frame_Shift_Del DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr18:57013194delT ENST00000251047.5 - 8 1629 c.912delA c.(910-912)aafs p.K304fs NM_005570.3 NP_005561.1 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 304 blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) GGAATTCCTCTTTTTTTTTAT 0.453 13 579 --- --- --- --- MBD3 53615 broad.mit.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:1578372_1578374delCTC ENST00000590550.2 - 5 1046_1048 c.673_675delGAG c.(673-675)del p.E225del MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 281 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGTCGGGctcctcctcctcc 0.714 7 177 --- --- --- --- CACNA1A 773 broad.mit.edu 37 19 13397337 13397338 + Frame_Shift_Ins INS - - G TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:13397337_13397338insG ENST00000360228.5 - 20 3531_3532 c.3532_3533insC c.(3532-3534)caafs p.Q1178fs CACNA1A_ENST00000573710.2_Frame_Shift_Ins_p.Q1179fs NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1179 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GGTGTGGTTGAGGGGGGGTGGG 0.629 30 58 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:16640581_16640583delTGC ENST00000546361.2 - 8 1156_1158 c.1005_1007delGCA c.(1003-1008)caa>ca p.QQ339del CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 339 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ctgctgctgttgctgctgctgct 0.670 8 141 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20359846 20359847 + RNA DEL GT GT - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:20359846_20359847delGT ENST00000593655.1 - 0 199 TTAAGTAAAGGTGTGTGTGTGT 0.421 8 408 --- --- --- --- LSM14A 26065 broad.mit.edu 37 19 34710340 34710340 + Frame_Shift_Del DEL C C - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:34710340delC ENST00000544216.3 + 7 903 c.826delC c.(826-828)ggfs p.R276fs LSM14A_ENST00000433627.5_Frame_Shift_Del_p.R276fs|LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 276 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) TGGGGGTCATCGGGGTGGCAG 0.438 9 796 --- --- --- --- FFAR2 2867 broad.mit.edu 37 19 35940788 35940790 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:35940788_35940790delCTG ENST00000599180.1 + 2 252_254 c.172_174delCTG c.(172-174)del p.L62del FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del O15552 FFAR2_HUMAN free fatty acid receptor 2 62 integral to plasma membrane G-protein coupled receptor activity|lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1) 22 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CGACCTCCTCCTGCTGCTGCTGC 0.645 7 281 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 12 1254 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:42753149_42753151delGAA ENST00000222329.4 - 4 1270_1272 c.1113_1115delTTC c.(1111-1116)tcc>tc p.SS371del AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 371 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GAATGGGGAGGAAGAAGAAGAAG 0.680 7 728 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45381749 45381751 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 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 7 151 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 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 16 915 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49978960 49978962 + In_Frame_Del DEL CTG CTG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:49978960_49978962delCTG ENST00000594009.1 + 2 125_127 c.46_48delCTG c.(46-48)del p.L20del FLT3LG_ENST00000204637.2_5'UTR|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 20 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTATCTCCTCCTGCTGCTGCTGC 0.621 10 473 --- --- --- --- SIGLEC16 400709 broad.mit.edu 37 19 50474857 50474861 + RNA DEL GACGC GACGC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:50474857_50474861delGACGC ENST00000602139.1 + 0 998 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 CAGTCTCCAGGACGCTTCCCTTTGC 0.566 19 466 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 15 647 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 16 619 --- --- --- --- ZNF787 126208 broad.mit.edu 37 19 56599438 56599440 + In_Frame_Del DEL TCG TCG - rs72029508 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:56599438_56599440delTCG ENST00000270459.3 - 3 1219_1221 c.1101_1103delCGA c.(1099-1104)gag>ga p.DE367del NM_001002836.2 NP_001002836.2 Q6DD87 ZN787_HUMAN zinc finger protein 787 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1) 5 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0559) GCCCGCGGCCTCGTCGTCGTCGT 0.778 20 61 --- --- --- --- ZNF416 55659 broad.mit.edu 37 19 58084579 58084579 + Frame_Shift_Del DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:58084579delA ENST00000196489.3 - 4 915 c.693delT c.(691-693)ttfs p.F231fs NM_017879.1 NP_060349.1 Q9BWM5 ZN416_HUMAN zinc finger protein 416 231 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) CTCTAGGGTGAAAAAAAGTGT 0.453 10 2160 --- --- --- --- ZNF552 79818 broad.mit.edu 37 19 58320004 58320004 + Frame_Shift_Del DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr19:58320004delT ENST00000391701.1 - 3 797 c.628delA c.(628-630)gcfs p.S210fs ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron NM_024762.3 NP_079038.2 Q9H707 ZN552_HUMAN zinc finger protein 552 210 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) CTGTAATGGCTTTTTCCCCCA 0.468 7 858 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 306 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) ggaggaggaagaggaggaggagg 0.532 9 494 --- --- --- --- NCOR1P1 0 broad.mit.edu 37 20 26084428 26084428 + RNA DEL C C - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr20:26084428delC ENST00000478176.1 - 0 150 NR_003678.1 TCTAATGAAACCTTTAGTAGT 0.313 13 83 --- --- --- --- FRG1B 0 broad.mit.edu 37 20 29628310 29628312 + In_Frame_Del DEL AGG AGG - rs111939959 TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr20:29628310_29628312delAGG ENST00000278882.3 + 6 692_694 c.312_314delAGG c.(310-315)gca>gc p.AG104del FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del|FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTAAAACAGCAGGAGAAGAAGAA 0.355 7 573 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGGTGGggaagaggaggaggagg 0.571 9 257 --- --- --- --- ZHX3 23051 broad.mit.edu 37 20 39832962 39832962 + Frame_Shift_Del DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr20:39832962delT ENST00000309060.3 - 4 1010 c.595delA c.(595-597)ttfs p.I199fs ZHX3_ENST00000540170.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000558993.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000559234.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000560361.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000544979.2_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000557816.1_Frame_Shift_Del_p.I199fs|ZHX3_ENST00000432768.2_Frame_Shift_Del_p.I199fs Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 199 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) AGTGTATGAATTTTTTTGGCT 0.488 9 725 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918817 20918819 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr22:20918817_20918819delCAG ENST00000263205.7 + 6 601_603 c.532_534delCAG c.(532-534)del p.Q188del MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del 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) 10 188 --- --- --- --- ZNRF3 84133 broad.mit.edu 37 22 29445819 29445821 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr22:29445819_29445821delCAG ENST00000544604.2 + 8 1825_1827 c.1650_1652delCAG c.(1648-1653)gac>ga p.DS550del ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del|ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 550 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CAGgcagcgacagcagcagcagc 0.660 10 290 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 9 694 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 13 737 --- --- --- --- TRIOBP 11078 broad.mit.edu 37 22 38119882 38119884 + In_Frame_Del DEL CCT CCT - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr22:38119882_38119884delCCT ENST00000406386.3 + 7 1574_1576 c.1319_1321delCCT c.(1318-1323)gcc>g p.AS440del RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 440 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) AATCCCAGAGCCTCCTCTCCCAG 0.601 11 624 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del|RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 21 739 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627678 21627680 + In_Frame_Del DEL GAG GAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chrX:21627678_21627680delGAG ENST00000425654.2 + 19 3025_3027 c.2545_2547delGAG c.(2545-2547)del p.E856del CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 886 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ggtggaggaagaggaggaggagg 0.517 7 218 --- --- --- --- GNL3L 54552 broad.mit.edu 37 X 54578339 54578341 + In_Frame_Del DEL GAA GAA - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chrX:54578339_54578341delGAA ENST00000336470.4 + 12 1252_1254 c.1113_1115delGAA c.(1111-1116)ggg>gg p.GK371del GNL3L_ENST00000360845.2_In_Frame_Del_p.GK371del NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 371 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 ACCGTTTGGGGAAGAAGAAGAAG 0.557 7 349 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360648 70360650 + In_Frame_Del DEL CAG CAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chrX:70360648_70360650delCAG ENST00000333646.6 + 42 6416_6418 c.6217_6219delCAG c.(6217-6219)del p.Q2079del MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del|MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000478889.1_3'UTR NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2076 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) gcaacagcaacagcagcagcagc 0.621 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 7 309 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360680 70360682 + In_Frame_Del DEL GCA GCA - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chrX:70360680_70360682delGCA ENST00000333646.6 + 42 6448_6450 c.6249_6251delGCA c.(6247-6252)cgg>cg p.RQ2083del MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del|MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 2080 Gln-rich. androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) accacatccggcagcagcagcag 0.586 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 9 264 --- --- --- --- HS6ST2 90161 broad.mit.edu 37 X 131762582 131762582 + Frame_Shift_Del DEL A A - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chrX:131762582delA ENST00000370836.2 - 4 1902 c.1487delT c.(1486-1488)tgfs p.L496fs HS6ST2_ENST00000370833.2_Frame_Shift_Del_p.L390fs|HS6ST2_ENST00000370837.1_Frame_Shift_Del_p.L350fs|HS6ST2_ENST00000406696.3_Frame_Shift_Del_p.L222fs|HS6ST2_ENST00000521489.1_Frame_Shift_Del_p.L536fs NM_147175.3 NP_671704.3 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 496 integral to membrane sulfotransferase activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2) 9 Acute lymphoblastic leukemia(192;0.000127) ATACCTCTGCAAAAAAAGGTC 0.453 10 1157 --- --- --- --- MAP7D3 79649 broad.mit.edu 37 X 135314194 135314194 + Frame_Shift_Del DEL G G - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chrX:135314194delG ENST00000316077.9 - 8 1142 c.922delC c.(922-924)agfs p.Q308fs MAP7D3_ENST00000370663.5_Frame_Shift_Del_p.Q290fs|MAP7D3_ENST00000370661.1_Frame_Shift_Del_p.Q273fs NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 308 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) ACATTCACCTGGGGGGGTGCA 0.532 7 1290 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 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 9 601 --- --- --- --- SPANXN3 139067 broad.mit.edu 37 X 142605149 142605149 + Frame_Shift_Del DEL T T - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chrX:142605149delT ENST00000370503.2 - 1 154 c.71delA c.(70-72)atfs p.N24fs NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 24 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) TACCTCATCATTTTTTTTGTT 0.453 19 1005 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000355149.3_Intron 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 7 992 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 17 673 --- --- --- --- MAGEA10 4109 broad.mit.edu 37 X 151303906 151303908 + In_Frame_Del DEL AGG AGG - TCGA-HZ-7922-01A-11D-2154-08 TCGA-HZ-7922-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4bbc4c64-410c-4e0c-b04f-1e5a4bbc57dd e7c35b8d-64c7-479b-8b92-8afb9a6d23d0 g.chrX:151303906_151303908delAGG ENST00000370323.4 - 4 501_503 c.185_187delCCT c.(184-189)tgc>t p.SC62del RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 62 Poly-Ser. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGATAGCaggaggaggagga 0.562 9 658 --- --- --- ---