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 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 11 92 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 7 405 0 0 1 0 0 TMEM215 401498 broad.mit.edu 37 9 32784266 32784266 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr9:32784266G>A ENST00000342743.5 + 2 450 c.85G>A c.(85-87)Gtc>Atc p.V29I NM_212558.2 NP_997723.2 Q68D42 TM215_HUMAN transmembrane protein 215 29 integral to membrane endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 CATGTTCACCGTCTCTGGGAT 0.582000 13 261 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109859074 109859074 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr13:109859074G>A ENST00000356711.2 + 35 5593 c.5467G>A c.(5467-5469)Gag>Aag p.E1823K MYO16_ENST00000357550.2_Missense_Mutation_p.E1823K NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1823 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GCACCACGCTGAGCCCAGGGT 0.602000 20 181 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 9 435 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24310294 24310294 + Missense_Mutation SNP T T G TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:24310294T>G ENST00000357002.4 + 4 1607 c.1492T>G c.(1492-1494)Tct>Gct p.S498A ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 498 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATGTGGCAAATCTTTTAGCCA 0.408000 5 317 0 0 1 0 0 SDHAP3 0 broad.mit.edu 37 5 1593264 1593264 + RNA SNP C C T rs111700178 by1000genomes TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr5:1593264C>T ENST00000436493.2 - 0 361 AGGGCACATGCCTGACCAAAG 0.557000 18 149 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150912423 150912423 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chrX:150912423G>A ENST00000329903.4 + 6 1481 c.1448G>A c.(1447-1449)cGc>cAc p.R483H NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 483 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) tacatttgccgcaaaggggac 0.527000 7 515 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578395 7578395 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr17:7578395G>A ENST00000420246.2 - 5 667 c.535C>T c.(535-537)Cat>Tat p.H179Y TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 179 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGCGCTCATGGTGGGGGCAG 0.642000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 24 306 0 0 1 0 0 MIOX 55586 broad.mit.edu 37 22 50926164 50926164 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr22:50926164G>A ENST00000395732.3 + 3 192 c.170G>A c.(169-171)aGg>aAg p.R57K MIOX_ENST00000216075.6_Missense_Mutation_p.R57K|MIOX_ENST00000395733.3_Missense_Mutation_p.R57K Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 57 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 13 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GACTTCGTCAGGAGCAAGGTA 0.657000 4 198 0 0 1 0 0 TRBV6-7 0 broad.mit.edu 37 7 142143906 142143906 + RNA SNP G G C rs146728507 by1000genomes TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr7:142143906G>C ENST00000390373.2 - 0 89 TCTTCAGGACGTGGAATTTTG 0.527000 8 336 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 6 164 1.12685e-05 1.17646e-05 1 1 0 AR 367 broad.mit.edu 37 X 66765161 66765161 + Missense_Mutation SNP A A T rs71905623 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chrX:66765161A>T ENST00000374690.3 + 1 697 c.173A>T c.(172-174)cAg>cTg p.Q58L AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.Q58L NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 58 Gln-rich.|Modulating.|Poly-Gln. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.Q58L(2) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CTGCTGCTgcagcagcagcag 0.667000 Androgen Insensitivity Syndrome 4 204 0 0 1 0 0 XRCC1 7515 broad.mit.edu 37 19 44055781 44055781 + Missense_Mutation SNP C C A rs2271980 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:44055781C>A ENST00000262887.5 - 10 1688 c.1141G>T c.(1141-1143)Gtg>Ttg p.V381L XRCC1_ENST00000543982.1_Missense_Mutation_p.V350L P18887 XRCC1_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 1 381 BRCT 1. base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) TCCTTACGCACGATGCGGCCT 0.622000 Other BER factors 26 528 3.28513e-13 3.68467e-13 1 1 0 ASPG 374569 broad.mit.edu 37 14 104570767 104570767 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr14:104570767G>A ENST00000551177.1 + 8 972 c.880G>A c.(880-882)Gtc>Atc p.V294I ASPG_ENST00000546892.2_Missense_Mutation_p.V294I|ASPG_ENST00000455920.2_Missense_Mutation_p.V294I NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 294 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 CCTGGTCATCGTCAACTGTAC 0.657000 5 251 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158592846 158592846 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:158592846C>T ENST00000368148.3 - 43 6227 c.6047G>A c.(6046-6048)cGc>cAc p.R2016H SPTA1_ENST00000368147.3_Missense_Mutation_p.R2013H|SPTA1_ENST00000461624.1_5'UTR NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2016 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.R2016H(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTGTTCCCAGCGCTTCAGCAG 0.478000 55 1081 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42109604 42109604 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr15:42109604G>A ENST00000457542.2 + 15 2016 c.1730G>A c.(1729-1731)cGc>cAc p.R577H MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R583H|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R416H|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R460H|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R577H NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 583 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GGGCAAGTCCGCATGATCAGC 0.612000 5 355 0 0 1 0 0 FSD2 123722 broad.mit.edu 37 15 83438550 83438550 + Missense_Mutation SNP T T C TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr15:83438550T>C ENST00000334574.8 - 8 1535 c.1354A>G c.(1354-1356)Aac>Gac p.N452D FSD2_ENST00000541889.1_Intron A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 2 452 Fibronectin type-III 1. breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10) 18 CCAGCCCTGTTGTGAGCTGTG 0.478000 30 293 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 5 95 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371692 109371692 + Missense_Mutation SNP T T C TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:109371692T>C ENST00000283195.6 + 17 2569 c.2443T>C c.(2443-2445)Tgc>Cgc p.C815R NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 815 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GAAAATGATTTGCCAACAAGT 0.348000 7 789 0 0 1 0 0 IFT122 55764 broad.mit.edu 37 3 129221571 129221571 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr3:129221571G>A ENST00000296266.3 + 21 2738 c.2546G>A c.(2545-2547)cGc>cAc p.R849H IFT122_ENST00000349441.2_Missense_Mutation_p.R687H|IFT122_ENST00000347300.2_Missense_Mutation_p.R739H|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000431818.2_Missense_Mutation_p.R648H|IFT122_ENST00000348417.2_Missense_Mutation_p.R798H|IFT122_ENST00000507564.1_Missense_Mutation_p.R790H|IFT122_ENST00000504021.1_Missense_Mutation_p.R674H|IFT122_ENST00000440957.2_Missense_Mutation_p.R589H NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 798 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 GACATCGCCCGCAAACTGGAC 0.597000 6 429 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 7 404 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47098594 47098594 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr3:47098594G>A ENST00000409792.3 - 15 6722 c.6680C>T c.(6679-6681)cCa>cTa p.P2227L NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 2227 Low charge region.|Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TGCCACATGTGGCACCACTGG 0.552000 """N, F, S, Mis""" clear cell renal carcinoma 4 178 0 0 1 0 0 LGR4 55366 broad.mit.edu 37 11 27390249 27390249 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr11:27390249G>A ENST00000379214.4 - 18 2464 c.2021C>T c.(2020-2022)aCa>aTa p.T674I LGR4_ENST00000389858.4_Missense_Mutation_p.T650I NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 674 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 GCCTGCTACTGTAGCACCTAG 0.438000 19 343 0 0 1 0 0 DGCR2 9993 broad.mit.edu 37 22 19050735 19050735 + Missense_Mutation SNP C C A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr22:19050735C>A ENST00000545799.1 - 5 796 c.596G>T c.(595-597)cGc>cTc p.R199L DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000263196.7_Missense_Mutation_p.R202L|DGCR2_ENST00000537045.1_Missense_Mutation_p.R161L P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 202 C-type lectin. cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) CACCTCCCAGCGACCTTCCAA 0.587000 7 115 5.18039e-06 5.51247e-06 1 1 0 SYNPO2 171024 broad.mit.edu 37 4 119978661 119978661 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr4:119978661G>A ENST00000307142.4 + 5 3554 c.3358G>A c.(3358-3360)Gat>Aat p.D1120N SYNPO2_ENST00000448416.2_Silent_p.P121P NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 774 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TAAACCAACCGATGGACTAGA 0.488000 22 371 0 0 1 0 0 RNF220 55182 broad.mit.edu 37 1 44878230 44878230 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:44878230G>A ENST00000355387.2 + 2 911 c.461G>A c.(460-462)cGc>cAc p.R154H RNF220_ENST00000361799.2_Missense_Mutation_p.R154H|RNF220_ENST00000372247.2_Missense_Mutation_p.R154H Q5VTB9 RN220_HUMAN ring finger protein 220 154 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 CCCCACTTGCGCTTCTCAGAT 0.537000 21 467 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 5 267 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 7 219 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 8 362 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21234547 21234547 + Silent SNP G G T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:21234547G>T ENST00000233242.1 - 26 5320 c.5193C>A c.(5191-5193)gtC>gtA p.V1731V NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1731 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTTCTTGACTGACCTTGAAGT 0.453000 42 824 9.14704e-12 1.01227e-11 1 1 0 SNCB 6620 broad.mit.edu 37 5 176053513 176053513 + Silent SNP A A G rs111621148 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr5:176053513A>G ENST00000310112.3 - 5 418 c.168T>C c.(166-168)gcT>gcC p.A56A SNCB_ENST00000510387.1_Silent_p.A56A|SNCB_ENST00000393693.2_Silent_p.A56A|SNCB_ENST00000506696.1_Silent_p.A56A NM_001001502.1 NP_001001502.1 Q16143 SYUB_HUMAN synuclein, beta 56 4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4). calcium ion binding|phospholipase inhibitor activity breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 10 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGTTTTTTCAGCCACTGGAG 0.607000 4 182 0 0 1 0 0 SDHAP3 0 broad.mit.edu 37 5 1593261 1593261 + RNA SNP A A T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr5:1593261A>T ENST00000436493.2 - 0 364 CTCAGGGCACATGCCTGACCA 0.542000 8 158 0 0 1 0 0 KRBA1 84626 broad.mit.edu 37 7 149421894 149421894 + Silent SNP A A G TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr7:149421894A>G ENST00000255992.10 + 9 1479 c.1080A>G c.(1078-1080)ggA>ggG p.G360G KRBA1_ENST00000319551.8_Silent_p.G360G|KRBA1_ENST00000485033.2_Silent_p.G360G|KRBA1_ENST00000479560.1_3'UTR NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 360 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CAGCCACTGGAGACACCAGAG 0.642000 3 58 0 0 1 0 0 AMZ2 51321 broad.mit.edu 37 17 66251858 66251858 + Silent SNP C C T rs138911562 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr17:66251858C>T ENST00000359904.3 + 6 1900 c.768C>T c.(766-768)atC>atT p.I256I AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577985.1_Silent_p.I256I|AMZ2_ENST00000359783.4_Silent_p.I198I|AMZ2_ENST00000577866.1_Silent_p.I256I|AMZ2_ENST00000580753.1_Silent_p.I256I|AMZ2_ENST00000392720.2_Silent_p.I256I|AMZ2_ENST00000577273.1_Intron NM_016627.4 NP_057711.3 Q86W34 AMZ2_HUMAN archaelysin family metallopeptidase 2 256 metallopeptidase activity|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 all_cancers(12;1.12e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) CCCATGAGATCGGACACATAT 0.478000 5 421 0 0 1 0 0 TUBG1 7283 broad.mit.edu 37 17 40767013 40767013 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr17:40767013C>T ENST00000251413.3 + 11 1372 c.1310C>T c.(1309-1311)gCg>gTg p.A437V NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 437 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) GAGTACCATGCGGCCACACGG 0.577000 5 372 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 6 212 0 0 1 0 0 KCNK10 54207 broad.mit.edu 37 14 88729828 88729828 + Silent SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr14:88729828C>T ENST00000340700.5 - 2 556 c.105G>A c.(103-105)ccG>ccA p.P35P KCNK10_ENST00000312350.5_Silent_p.P40P|KCNK10_ENST00000319231.5_Silent_p.P40P NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 35 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 GAGTCGGAGCCGGAGCCGGGG 0.642000 7 565 0 0 1 0 0 FTMT 94033 broad.mit.edu 37 5 121187809 121187809 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr5:121187809G>A ENST00000321339.1 + 1 160 c.151G>A c.(151-153)Gca>Aca p.A51T NM_177478.1 NP_803431.1 Q8N4E7 FTMT_HUMAN ferritin mitochondrial 51 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) CCCCCTGGCCGCAGCCGCCTC 0.771000 9 46 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57598946 57598946 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr12:57598946G>A ENST00000243077.3 + 73 11715 c.11249G>A c.(11248-11250)cGg>cAg p.R3750Q NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3750 LDL-receptor class A 31. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TTTCTGTGCCGGAACCAGCGC 0.637000 5 490 0 0 1 0 0 DARS2 55157 broad.mit.edu 37 1 173795824 173795824 + Splice_Site SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:173795824G>A ENST00000361951.4 + 2 854 c.e2-1 DARS2_ENST00000239457.5_Splice_Site NM_018122.4 NP_060592.2 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 30 L-Aspartic Acid(DB00128) TTTTTTTAAAGAATTCAGTAG 0.348000 10 205 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 8 138 0 0 1 0 0 RP11-707M1.1 0 broad.mit.edu 37 11 49831711 49831711 + RNA SNP A A G TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr11:49831711A>G ENST00000527477.1 + 0 1936 GTTGATGTTAATCAAAGCTCC 0.448000 11 474 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195410689 195410689 + RNA SNP C C T rs6583275 by1000genomes TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr3:195410689C>T ENST00000445430.1 + 0 1886 CTTTGAGGTGCACTGGAGGAA 0.567000 8 69 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134989524 134989524 + Silent SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chrX:134989524G>A ENST00000535938.1 + 9 1097 c.930G>A c.(928-930)ccG>ccA p.P310P SAGE1_ENST00000324447.3_Silent_p.P310P|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Silent_p.P310P NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 310 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) ATGACCAACCGCAACCTAATA 0.408000 6 617 0 0 1 0 0 CERCAM 51148 broad.mit.edu 37 9 131186737 131186737 + Missense_Mutation SNP C C T rs143495365 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr9:131186737C>T ENST00000372842.1 + 6 3520 c.376C>T c.(376-378)Cgc>Tgc p.R126C CERCAM_ENST00000372838.4_Missense_Mutation_p.R204C Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 204 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 GAACCGCCAGCGCCGGGGCTG 0.647000 11 278 0 0 1 0 0 NAPG 8774 broad.mit.edu 37 18 10530778 10530778 + Missense_Mutation SNP G G T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr18:10530778G>T ENST00000322897.6 + 2 137 c.68G>T c.(67-69)gGt>gTt p.G23V NAPG_ENST00000542979.1_Intron NM_003826.2 NP_003817.1 Q99747 SNAG_HUMAN N-ethylmaleimide-sensitive factor attachment protein, gamma 23 cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization membrane|membrane fraction|mitochondrion protein binding large_intestine(2)|lung(2) 4 CTGAAAACTGGTTTTTTAAAA 0.353000 5 49 3.59834e-05 3.73327e-05 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 5 309 0 0 1 0 0 NXNL1 115861 broad.mit.edu 37 19 17571500 17571500 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:17571500C>T ENST00000301944.2 - 1 263 c.179G>A c.(178-180)cGg>cAg p.R60Q CTD-2521M24.10_ENST00000594663.1_5'UTR NM_138454.1 NP_612463.1 Q96CM4 NXNL1_HUMAN nucleoredoxin-like 1 60 Thioredoxin. cell redox homeostasis nuclear outer membrane central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 6 ATCTGTGAGCCGCACGAAGAA 0.612000 21 326 0 0 1 0 0 PCDHB5 0 broad.mit.edu 37 5 140516870 140516870 + Silent SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr5:140516870G>A ENST00000231134.5 + 1 2071 c.1854G>A c.(1852-1854)gcG>gcA p.A618A NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 618 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCATGTGGGCGCACAATGGCG 0.687000 5 477 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48915275 48915275 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:48915275C>T ENST00000294954.7 - 11 1682 c.1661G>A c.(1660-1662)cGa>cAa p.R554Q STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.R527Q|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Silent_p.S317S|LHCGR_ENST00000344775.3_Missense_Mutation_p.R492Q NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 554 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TTCTGGGTTTCGAACTGCAAA 0.368000 19 338 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|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, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 7 221 0 0 1 0 0 RSPO1 284654 broad.mit.edu 37 1 38079563 38079563 + Splice_Site SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:38079563C>T ENST00000356545.2 - 7 1225 c.436_splice c.e7-1 p.A146_splice RSPO1_ENST00000373059.1_Splice_Site_p.A119_splice|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401069.1_Splice_Site_p.A146_splice|RSPO1_ENST00000401068.1_Splice_Site_p.A146_splice NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 146 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TTTCACATTGCGCTGGCAGGA 0.617000 37 291 0 0 1 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75406859 75406859 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr10:75406859G>A ENST00000394810.2 - 4 2700 c.2551C>T c.(2551-2553)Cgg>Tgg p.R851W SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 851 Pro-rich. cytoplasm|cytoskeleton actin binding p.R627W(2)|p.R851W(1) breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) GGCTGATGCCGCATAAAATCT 0.577000 5 438 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195410687 195410687 + RNA SNP T T A rs6583274 by1000genomes TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr3:195410687T>A ENST00000445430.1 + 0 1884 CCCTTTGAGGTGCACTGGAGG 0.567000 8 68 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 13 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 7 22 0.248553 0.248553 1 1 0 SCD5 79966 broad.mit.edu 37 4 83719510 83719510 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr4:83719510C>T ENST00000319540.4 - 1 500 c.181G>A c.(181-183)Gtg>Atg p.V61M SCD5_ENST00000282709.4_Missense_Mutation_p.V61M|SCD5_ENST00000273908.4_Missense_Mutation_p.V61M NM_001037582.2 NP_001032671.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 61 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) AGGGAGTACACGGCCCCCAAG 0.711000 4 226 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123780522 123780522 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr12:123780522G>A ENST00000420886.2 - 31 4114 c.4115C>T c.(4114-4116)gCg>gTg p.A1372V SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1372 ATP binding|DNA binding|hydrolase activity p.A1371V(2) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CTGTTGGACCGCAAGCTGTTG 0.433000 6 788 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43484438 43484438 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr7:43484438C>T ENST00000395891.1 + 11 2272 c.1667C>T c.(1666-1668)cCg>cTg p.P556L HECW1_ENST00000453890.1_Missense_Mutation_p.P556L NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 556 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CCCGAGACCCCGCGGACACAC 0.692000 17 274 0 0 1 0 0 SGK223 0 broad.mit.edu 37 8 8176529 8176529 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr8:8176529C>T ENST00000520004.1 - 6 3620 c.3356G>A c.(3355-3357)cGc>cAc p.R1119H SGK223_ENST00000330777.4_Missense_Mutation_p.R1119H Q86YV5 SG223_HUMAN 1119 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity GAAGCACACGCGCCGCTCGTA 0.667000 35 659 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276588 186276588 + Silent SNP T T C TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:186276588T>C ENST00000445192.2 + 7 1782 c.1737T>C c.(1735-1737)acT>acC p.T579T PRG4_ENST00000367486.3_Silent_p.T536T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T538T|PRG4_ENST00000367485.4_Silent_p.T486T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 579 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T579T(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTGCCCCAACTACCCCCAAGG 0.647000 16 295 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162340 90162340 + RNA SNP C C T rs138169571 by1000genomes TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr16:90162340C>T ENST00000567960.1 + 0 1076 TUBB8P7_ENST00000564451.1_RNA p.R358W(1) CATCCCACTCCGGGGGCTAAA 0.478000 6 652 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16982060 16982060 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr10:16982060C>T ENST00000377833.4 - 37 5584 c.5519G>A c.(5518-5520)gGc>gAc p.G1840D NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1840 CUB 12. G -> S (in dbSNP:rs2271462). cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAAGCCCGTGCCGCTGCCAGA 0.413000 6 739 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628299 29628299 + Missense_Mutation SNP A A G TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr20:29628299A>G ENST00000278882.3 + 6 681 c.301A>G c.(301-303)Agt>Ggt p.S101G FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGAAGCAAAAAGTAAAACAGC 0.363000 7 302 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50256523 50256523 + Splice_Site SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr10:50256523C>T ENST00000332853.3 - 6 798 c.775_splice c.e6+1 p.A259_splice NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 259 integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 AGCTCCTTACCTTTGGCAGGG 0.542000 21 416 0 0 1 0 0 RPL12 6136 broad.mit.edu 37 9 130213570 130213570 + Missense_Mutation SNP C C A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr9:130213570C>A ENST00000361436.5 - 1 114 c.27G>T c.(25-27)gaG>gaT p.E9D RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Missense_Mutation_p.E9D NM_000976.3 NP_000967.1 P30050 RL12_HUMAN ribosomal protein L12 9 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1) 4 CGACTTTGATCTCGTTGGGGT 0.642000 6 297 0.00116845 0.00120473 1 1 0 MAP4K4 9448 broad.mit.edu 37 2 102486181 102486181 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:102486181C>T ENST00000413150.2 + 19 2118 c.2063C>T c.(2062-2064)aCg>aTg p.T688M MAP4K4_ENST00000324219.4_Missense_Mutation_p.T854M|MAP4K4_ENST00000347699.4_Missense_Mutation_p.T773M|MAP4K4_ENST00000302217.5_Missense_Mutation_p.T576M|MAP4K4_ENST00000456652.1_Missense_Mutation_p.T572M|MAP4K4_ENST00000498066.1_3'UTR|MAP4K4_ENST00000350198.4_Missense_Mutation_p.T692M|MAP4K4_ENST00000350878.4_Missense_Mutation_p.T749M|MAP4K4_ENST00000425019.1_Missense_Mutation_p.T742M NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 773 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GAGTCGGGGACGACGGATGAG 0.582000 3 48 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784471 82784471 + Missense_Mutation SNP A A G TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr7:82784471A>G ENST00000423517.2 - 2 1823 c.1486T>C c.(1486-1488)Tca>Cca p.S496P PCLO_ENST00000333891.8_Missense_Mutation_p.S496P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 442 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S496P(6)|p.?(3) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTTTGCTGAGCCAGGCTGT 0.607000 14 694 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 3 62 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 6 169 0 0 1 0 0 RDM1 201299 broad.mit.edu 37 17 34257116 34257116 + Silent SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr17:34257116G>A ENST00000394529.3 - 1 657 c.171C>T c.(169-171)tgC>tgT p.C57C RDM1_ENST00000419453.2_Silent_p.C57C|RDM1_ENST00000394528.3_Silent_p.C80C|RDM1_ENST00000591402.1_Silent_p.C57C|RDM1_ENST00000425909.3_Silent_p.C80C|RDM1_ENST00000431884.2_Silent_p.C80C|RDM1_ENST00000293273.6_Silent_p.C80C|RDM1_ENST00000394527.1_Silent_p.C57C|RDM1_ENST00000430160.2_Silent_p.C57C NM_001163130.1 NP_001156602.1 Q8NG50 RDM1_HUMAN RAD52 motif 1 80 Necessary for nuclear localization and for nucleolar accumulation in response to heat shock.|RRM. DNA recombination|DNA repair Cajal body|cytoplasm|nucleolus|PML body DNA binding|nucleotide binding|RNA binding breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1) 9 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GCTTCCGGTCGCATGCCTTTT 0.483000 Other identified genes with known or suspected DNA repair function 6 817 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32196581 32196581 + Silent SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:32196581G>A ENST00000373658.3 - 29 4541 c.4200C>T c.(4198-4200)tcC>tcT p.S1400S BAI2_ENST00000398542.1_Silent_p.S1300S|BAI2_ENST00000398547.1_Silent_p.S1333S|BAI2_ENST00000527361.1_Silent_p.S1367S|BAI2_ENST00000257070.4_Silent_p.S1367S|BAI2_ENST00000398556.3_Silent_p.S1315S|BAI2_ENST00000373655.2_Silent_p.S1400S|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Silent_p.S1009S|BAI2_ENST00000398538.1_Silent_p.S1388S NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 1400 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) AGTGGTCCACGGACAGGAAGC 0.692000 12 238 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 6 289 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179444687 179444687 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:179444687G>A ENST00000589042.1 - 318 67551 c.67327C>T c.(67327-67329)Cgt>Tgt p.R22443C TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13378C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13503C|TTN_ENST00000342992.6_Missense_Mutation_p.R19875C|TTN_ENST00000342175.6_Missense_Mutation_p.R13570C|TTN_ENST00000591111.1_Missense_Mutation_p.R20802C|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20802 Ig-like 116. 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) ACAGCATCACGAGTTTCACCG 0.413000 28 337 0 0 1 0 0 ALX4 60529 broad.mit.edu 37 11 44296947 44296947 + Missense_Mutation SNP G G A rs145166164 byFrequency TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr11:44296947G>A ENST00000329255.3 - 2 831 c.728C>T c.(727-729)gCg>gTg p.A243V NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 243 hair follicle development p.A243E(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 CTGTTCCCGCGCATACACGTC 0.617000 6 581 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 7 312 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96779761 96779761 + Missense_Mutation SNP G G T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr14:96779761G>T ENST00000359933.4 - 24 4547 c.3654C>A c.(3652-3654)ttC>ttA p.F1218L NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1218 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) CAATATTCAAGAAGTATAAAA 0.303000 17 284 1.99824e-07 2.14005e-07 1 1 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccaccgccgc 0.706000 6 132 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 5 198 0.0215528 0.0218156 1 1 0 CDH23 64072 broad.mit.edu 37 10 73485201 73485201 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr10:73485201G>A ENST00000224721.6 + 29 3523 c.3518G>A c.(3517-3519)cGg>cAg p.R1173Q C10orf105_ENST00000398786.2_Intron NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1168 Cadherin 11. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CCCCTGGACCGGGAGCGGAAC 0.652000 23 212 0 0 1 0 0 TRBV6-7 0 broad.mit.edu 37 7 142143879 142143879 + RNA SNP A A T rs149184848 by1000genomes TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr7:142143879A>T ENST00000390373.2 - 0 116 CACACAGCAGAGTCATGCTCT 0.507000 9 374 0 0 1 0 0 WDR62 284403 broad.mit.edu 37 19 36572414 36572414 + Missense_Mutation SNP G G T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:36572414G>T ENST00000401500.2 + 10 1348 c.1313G>T c.(1312-1314)cGc>cTc p.R438L WDR62_ENST00000270301.7_Missense_Mutation_p.R438L|WDR62_ENST00000388999.3_Missense_Mutation_p.R438L NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 438 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) AACACCATTCGCTTCTGGAAC 0.463000 27 533 4.59853e-10 4.98925e-10 1 1 0 RP11-419C5.2 0 broad.mit.edu 37 16 70030060 70030060 + Missense_Mutation SNP T T C TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr16:70030060T>C ENST00000532298.1 - 1 31 c.32A>G c.(31-33)cAg>cGg p.Q11R PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000325845.7_5'UTR breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1) 13 GGACAGGAACTGTGGGGTCAG 0.502000 4 46 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 10 380 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7229269 7229269 + Nonsense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr6:7229269C>T ENST00000379938.2 + 10 1474 c.937C>T c.(937-939)Caa>Taa p.Q313* RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q313*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q313*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q313* NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 313 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CATCAGCGAGCAACACCGTTT 0.522000 12 196 0 0 1 0 0 CATSPERG 57828 broad.mit.edu 37 19 38858385 38858385 + Missense_Mutation SNP G G A rs147603617 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:38858385G>A ENST00000409235.3 + 25 3014 c.2899G>A c.(2899-2901)Gaa>Aaa p.E967K CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.E927K NM_021185.4 NP_067008.3 Q6ZRH7 CTSRG_HUMAN catsper channel auxiliary subunit gamma 967 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 CAGTGAGGACGAAATCTACCG 0.592000 75 1203 0 0 1 0 0 PTGER2 5732 broad.mit.edu 37 14 52781689 52781689 + Silent SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr14:52781689C>T ENST00000245457.5 + 1 577 c.423C>T c.(421-423)ccC>ccT p.P141P PTGER2_ENST00000557436.1_Intron NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 141 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) TCGGGCACCCCTACTTCTACC 0.642000 17 376 0 0 1 0 0 ACSL4 2182 broad.mit.edu 37 X 108924283 108924283 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chrX:108924283C>T ENST00000340800.2 - 7 1226 c.722G>A c.(721-723)gGa>gAa p.G241E ACSL4_ENST00000469796.2_Missense_Mutation_p.G241E|ACSL4_ENST00000348502.6_Missense_Mutation_p.G200E NM_022977.2 NP_075266.1 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 241 fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2) 22 Icosapent(DB00159)|Troglitazone(DB00197) AATCTCAAATCCTTCAGGGTA 0.343000 53 457 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 4494899 4494899 + Silent SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr8:4494899G>A ENST00000602557.1 - 2 822 c.267C>T c.(265-267)taC>taT p.Y89Y CSMD1_ENST00000602723.1_Silent_p.Y89Y|CSMD1_ENST00000400186.3_Silent_p.Y89Y|CSMD1_ENST00000542608.1_Silent_p.Y89Y|CSMD1_ENST00000520002.1_Silent_p.Y89Y|CSMD1_ENST00000539096.1_Silent_p.Y89Y|CSMD1_ENST00000537824.1_Silent_p.Y89Y Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 89 CUB 1. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCTGTCCATCGTAAACTGATA 0.378000 23 437 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84476138 84476138 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr16:84476138C>T ENST00000416219.2 + 15 1423 c.1334C>T c.(1333-1335)gCg>gTg p.A445V ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 445 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GCCAACAATGCGGTCATCAGA 0.552000 76 1024 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16006353 16006353 + Silent SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:16006353G>A ENST00000221700.5 - 3 401 c.306C>T c.(304-306)tgC>tgT p.C102C CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 102 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding p.C102C(1) NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGTCGGGGTGGCACAAACTGA 0.597000 7 845 0 0 1 0 0 TTLL9 164395 broad.mit.edu 37 20 30522692 30522692 + Splice_Site SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr20:30522692G>A ENST00000375938.4 + 12 1257 c.e12+1 TTLL9_ENST00000375922.4_Splice_Site|TTLL9_ENST00000535842.1_Splice_Site|TTLL9_ENST00000375934.4_Splice_Site|TTLL9_ENST00000375921.2_Intron|TTLL9_ENST00000310998.4_Splice_Site Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) ACCTCAAGCCGTAAGTGGGTG 0.522000 5 383 0 0 1 0 0 D86994.2 0 broad.mit.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr22:23006960C>A ENST00000385099.1 + 0 63 GGGCTCTGCTCCTCCTCACCC 0.627000 3 13 0.004672 0.00475799 1 1 0 MTUS2 23281 broad.mit.edu 37 13 29599068 29599068 + Missense_Mutation SNP T T A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr13:29599068T>A ENST00000431530.3 + 1 321 c.263T>A c.(262-264)tTt>tAt p.F88Y NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 78 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CATAAGGAATTTCACCAACTT 0.453000 12 167 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 6 174 0 0 1 0 0 TRIM51HP 0 broad.mit.edu 37 11 55065601 55065601 + RNA SNP C C G rs4100282 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr11:55065601C>G ENST00000526016.1 - 0 107 NR_038174.2 CACTGAGCAACAACTGCCATG 0.488000 5 121 0 0 1 0 0 MPG 4350 broad.mit.edu 37 16 133094 133094 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr16:133094G>A ENST00000219431.4 + 4 590 c.359G>A c.(358-360)cGc>cAc p.R120H MPG_ENST00000397817.1_Missense_Mutation_p.R103H NM_002434.3 NP_002425.2 P29372 3MG_HUMAN N-methylpurine-DNA glycosylase 120 R -> C (in dbSNP:rs2308313). depurination|DNA dealkylation involved in DNA repair nucleoplasm alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) CTCCGAGGCCGCATCGTGGAG 0.637000 Base excision repair (BER), DNA glycosylases 6 737 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 6 420 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 5 344 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24309885 24309885 + Silent SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:24309885G>A ENST00000357002.4 + 4 1198 c.1083G>A c.(1081-1083)caG>caA p.Q361Q ZNF254_ENST00000342944.6_Silent_p.Q276Q NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 361 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) CTTTTAGCCAGTCCTCAACCC 0.393000 5 365 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150932824 150932824 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr5:150932824G>A ENST00000261800.5 - 5 4082 c.4070C>T c.(4069-4071)aCg>aTg p.T1357M NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1357 Cadherin 12. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCCATGACCGTAAAGCTGTA 0.587000 5 331 0 0 1 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100466468 100466468 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr12:100466468C>T ENST00000279907.7 - 12 1743 c.1531G>A c.(1531-1533)Gat>Aat p.D511N UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D161N|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.D511N NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 511 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 TCCTTTCCATCTGGATAGTAA 0.274000 13 265 0 0 1 0 0 MOS 4342 broad.mit.edu 37 8 57025548 57025548 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr8:57025548G>A ENST00000311923.1 - 1 993 c.994C>T c.(994-996)Cgg>Tgg p.R332W NM_005372.1 NP_005363.1 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene homolog 332 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2) 22 Epithelial(17;0.00117)|all cancers(17;0.00879) AAAAGCAGCCGCGCGCTCGGC 0.572000 8 207 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140553994 140553994 + Silent SNP G G T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr5:140553994G>T ENST00000231137.3 + 1 1752 c.1578G>T c.(1576-1578)gcG>gcT p.A526A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 526 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A526A(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGCAGGCGTTCGAGTTCC 0.706000 6 425 0.0581538 0.0585062 1 1 0 PPCS 79717 broad.mit.edu 37 1 42922346 42922346 + Missense_Mutation SNP T T G TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:42922346T>G ENST00000372561.3 + 1 117 c.110T>G c.(109-111)gTg>gGg p.V37G PPCS_ENST00000372560.3_Missense_Mutation_p.V37G|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000372556.3_Intron NM_024664.2 NP_078940.2 Q9HAB8 PPCS_HUMAN phosphopantothenoylcysteine synthetase 37 coenzyme biosynthetic process|pantothenate metabolic process cytosol phosphopantothenate--cysteine ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3) 12 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGCCGGCGGGTGGTGTTGGTT 0.711000 14 117 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000330386.6_Silent_p.Q2646Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 24 173 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629160 1629160 + Silent SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr11:1629160C>T ENST00000399685.1 - 1 533 c.456G>A c.(454-456)aaG>aaA p.K152K NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 152 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) AGCAGCTGGGCTTGCAGCAGC 0.637000 8 919 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 13 258 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28979946 28979946 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr13:28979946G>A ENST00000282397.4 - 11 1773 c.1522C>T c.(1522-1524)Cgc>Tgc p.R508C FLT1_ENST00000539099.1_Missense_Mutation_p.R508C|FLT1_ENST00000541932.1_Missense_Mutation_p.R508C NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 508 Ig-like C2-type 5. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) ATTGCCATGCGCTGAGTGATG 0.368000 20 347 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10197233 10197233 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:10197233G>A ENST00000377157.3 + 16 2659 c.1598G>A c.(1597-1599)cGc>cAc p.R533H UBE4B_ENST00000343090.6_Missense_Mutation_p.R778H|UBE4B_ENST00000253251.8_Missense_Mutation_p.R649H NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 778 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CGCTATATCCGCAGACTCCGG 0.527000 6 545 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119914768 119914768 + Missense_Mutation SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr7:119914768C>T ENST00000331113.4 + 1 1047 c.82C>T c.(82-84)Ccg>Tcg p.P28S NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 28 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GGGGCCTATGCCGGCTCCCCC 0.632000 8 860 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 7 382 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 6 502 0 0 1 0 0 CXorf21 80231 broad.mit.edu 37 X 30577641 30577641 + Missense_Mutation SNP A A T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chrX:30577641A>T ENST00000378962.3 - 3 1154 c.832T>A c.(832-834)Ttg>Atg p.L278M NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 278 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 GTTGACATCAATTGCAATAGG 0.398000 15 309 0 0 1 0 0 WBP7 0 broad.mit.edu 37 19 36216703 36216703 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:36216703G>A ENST00000420124.1 + 13 3869 c.3869G>A c.(3868-3870)cGc>cAc p.R1290H WBP7_ENST00000222270.7_Missense_Mutation_p.R1290H|KMT2B_ENST00000607650.1_RNA CGGGCCACGCGCAAACGGCGC 0.607000 3 34 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882781 228882781 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:228882781G>A ENST00000392056.3 - 7 2835 c.2789C>T c.(2788-2790)gCg>gTg p.A930V SPHKAP_ENST00000344657.5_Missense_Mutation_p.A930V NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 930 PKA-RII subunit binding domain (By similarity). cytoplasm protein binding p.A930V(2) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TAATTCTTCCGCAAAGTCTGT 0.473000 6 613 0 0 1 0 0 AOC3 8639 broad.mit.edu 37 17 41006599 41006599 + Missense_Mutation SNP G G A rs151291423 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr17:41006599G>A ENST00000308423.2 + 2 1895 c.1735G>A c.(1735-1737)Gtg>Atg p.V579M AOC3_ENST00000591562.1_Missense_Mutation_p.V36M NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 579 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) CGCCTTCCTCGTGGGAAGCGC 0.652000 13 238 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A A G rs112443847 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr16:72821618A>G ENST00000268489.5 - 10 11229 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3519 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G3519G(3) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccaccgccgccgc 0.716000 5 114 0 0 1 0 0 CHSY3 337876 broad.mit.edu 37 5 129520070 129520070 + Missense_Mutation SNP G G A rs140992502 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr5:129520070G>A ENST00000305031.4 + 3 1593 c.1235G>A c.(1234-1236)cGc>cAc p.R412H CHSY3_ENST00000507545.1_3'UTR NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 412 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) ATGCTCAGCCGCAAAATTTCT 0.478000 5 322 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7229268 7229268 + Missense_Mutation SNP G G T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr6:7229268G>T ENST00000379938.2 + 10 1473 c.936G>T c.(934-936)gaG>gaT p.E312D RREB1_ENST00000334984.6_Missense_Mutation_p.E312D|RREB1_ENST00000349384.6_Missense_Mutation_p.E312D|RREB1_ENST00000379933.3_Missense_Mutation_p.E312D NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 312 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GCATCAGCGAGCAACACCGTT 0.522000 11 196 5.16669e-11 5.64257e-11 1 1 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 8 300 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17145151 17145151 + Silent SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr10:17145151G>A ENST00000377833.4 - 13 1568 c.1503C>T c.(1501-1503)ttC>ttT p.F501F NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 501 CUB 1. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGATAACCCAGAAGCAGTTAA 0.358000 9 232 0 0 1 0 0 SMOC1 64093 broad.mit.edu 37 14 70418995 70418995 + Silent SNP C C T rs111874562 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr14:70418995C>T ENST00000381280.4 + 2 493 c.240C>T c.(238-240)ggC>ggT p.G80G SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Silent_p.G80G NM_001034852.2|NM_022137.5 NP_001030024.1|NP_071420.1 Q9H4F8 SMOC1_HUMAN SPARC related modular calcium binding 1 80 Kazal-like. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) CGACCCTGGGCGTGGTGCATC 0.597000 12 296 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39425162 39425162 + Missense_Mutation SNP G G A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr13:39425162G>A ENST00000280481.7 + 10 6875 c.6659G>A c.(6658-6660)gGc>gAc p.G2220D NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2220 Calx-beta 4. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CTGGTACTCGGCACTCCACAA 0.468000 5 414 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977327 29977327 + RNA SNP T T C rs143365191 by1000genomes TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr6:29977327T>C ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA GACAGCTGCCTTGTGTGGGAC 0.438000 5 290 0 0 1 0 0 SNHG12 0 broad.mit.edu 37 1 28906819 28906820 + RNA INS - - A rs147786269 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:28906819_28906820insA ENST00000488745.1 - 0 1100 SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA gactccgtctcaaaaaaaaaaa 0.490 10 51 --- --- --- --- RSPO1 284654 broad.mit.edu 37 1 38078467 38078469 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:38078467_38078469delTGC ENST00000356545.2 - 8 1537_1539 c.750_752delGCA c.(748-753)caa>ca p.QQ250del RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 250 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTGTCCCTTGCTGCTGCTGCT 0.621 7 735 --- --- --- --- CDC7 8317 broad.mit.edu 37 1 91967356 91967357 + Frame_Shift_Ins INS - - A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:91967356_91967357insA ENST00000428239.1 + 2 342_343 c.83_84insA c.(82-84)taafs p.*28fs CDC7_ENST00000430031.2_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000234626.6_Frame_Shift_Ins_p.*28fs|CDC7_ENST00000497611.1_3'UTR NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 28 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GAAGGCTCTTTAAAAAAAAACG 0.406 9 420 --- --- --- --- SLC16A4 9122 broad.mit.edu 37 1 110906426 110906427 + Frame_Shift_Ins INS - - A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:110906426_110906427insA ENST00000369779.4 - 9 1674_1675 c.1425_1426insT c.(1423-1428)tttaccfs p.T476fs SLC16A4_ENST00000369781.4_Frame_Shift_Ins_p.T308fs|SLC16A4_ENST00000437429.2_Frame_Shift_Ins_p.L372fs|SLC16A4_ENST00000541986.1_Frame_Shift_Ins_p.T414fs|SLC16A4_ENST00000472422.2_Frame_Shift_Ins_p.T428fs NM_001201547.1|NM_004696.2 NP_001188476.1|NP_004687.1 O15374 MOT5_HUMAN solute carrier family 16, member 4 476 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity p.F475fs*12(1) breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2) 16 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) GCCAATGGTACAAAAAAAAAGG 0.391 7 333 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 7 85 --- --- --- --- TMCO1 54499 broad.mit.edu 37 1 165712550 165712551 + Splice_Site INS - - A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:165712550_165712551insA ENST00000367881.5 - 6 752 c.e6-2 TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCATCAAATCTAAAAGAAAAAA 0.381 8 259 --- --- --- --- DHX9 1660 broad.mit.edu 37 1 182845333 182845333 + Frame_Shift_Del DEL T T - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:182845333delT ENST00000367549.3 + 17 2074 c.1964delT c.(1963-1965)gtfs p.V655fs NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 655 Helicase C-terminal. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 GCTGTGTTGGTTTTTTTGCCT 0.378 7 601 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:201843998_201844000delGAG ENST00000361565.4 + 22 2941_2943 c.2872_2874delGAG c.(2872-2874)del p.E962del NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 962 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ggaggaggaagaggaggaggagg 0.443 8 408 --- --- --- --- TMEM63A 9725 broad.mit.edu 37 1 226034840 226034842 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr1:226034840_226034842delCTG ENST00000366835.3 - 24 2593_2595 c.2323_2325delCAG c.(2323-2325)del p.Q775del NM_014698.2 NP_055513.2 O94886 TM63A_HUMAN transmembrane protein 63A 775 integral to membrane|lysosomal membrane nucleotide binding p.Q775delQ(1) breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Breast(184;0.197) CACCATAGGTCTGCTGCTGCTGC 0.626 23 779 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 11 668 --- --- --- --- KIF3C 3797 broad.mit.edu 37 2 26203464 26203466 + In_Frame_Del DEL GTT GTT - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:26203464_26203466delGTT ENST00000264712.3 - 1 1900_1902 c.1321_1323delAAC c.(1321-1323)del p.N441del KIF3C_ENST00000405914.1_In_Frame_Del_p.N441del NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 441 Poly-Asn. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCGGGCGGTGGTTGTTGTTGTTG 0.621 7 536 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61575023 61575025 + In_Frame_Del DEL TGG TGG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:61575023_61575025delTGG ENST00000398571.2 - 15 2341_2343 c.2265_2267delCCA c.(2263-2268)cat>ca p.HH759del NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 759 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) gtggtggtgatggtggtggtggt 0.389 8 261 --- --- --- --- TMEM127 55654 broad.mit.edu 37 2 96919781 96919783 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:96919781_96919783delTGC ENST00000258439.2 - 4 736_738 c.480_482delGCA c.(478-483)cat>ca p.QH160del TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 160 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 GTACTTCTTATGCTGCTGCTGCT 0.557 9 360 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del 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 12 308 --- --- --- --- ALPP 250 broad.mit.edu 37 2 233243529 233243531 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:233243529_233243531delTGC ENST00000392027.2 + 1 286_288 c.17_19delTGC c.(16-21)atg>a p.ML6del NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 6 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GGGCCCTGCAtgctgctgctgct 0.616 17 286 --- --- --- --- TRPM8 79054 broad.mit.edu 37 2 234879009 234879010 + Frame_Shift_Ins INS - - C TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr2:234879009_234879010insC ENST00000324695.4 + 17 2334_2335 c.2294_2295insC c.(2293-2295)cccfs p.P765fs TRPM8_ENST00000433712.2_Intron NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 765 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) TCGGTGCCACACCCCCCCGAGC 0.574 8 1088 --- --- --- --- LRIG1 26018 broad.mit.edu 37 3 66436625 66436627 + In_Frame_Del DEL GCT GCT - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr3:66436625_66436627delGCT ENST00000383703.3 - 14 2242_2244 c.1639_1641delAGC c.(1639-1641)del p.S548del LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_3'UTR Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 524 Ig-like C2-type 1. integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCATGGGGGAGCTGCTGCTGCTG 0.547 7 1240 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87027857 87027859 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr3:87027857_87027859delCTC ENST00000398399.2 - 2 583_585 c.220_222delGAG c.(220-222)del p.E74del VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) GCTGGtctttctcctcctcctcc 0.502 7 180 --- --- --- --- TMCC1 23023 broad.mit.edu 37 3 129370576 129370578 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 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 11 483 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 9 463 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 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 15 364 --- --- --- --- FIP1L1 81608 broad.mit.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr4:54319248_54319249delAG ENST00000337488.6 + 16 1641_1642 c.1447_1448delAG c.(1447-1449)afs p.R483fs FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000507166.1_Intron NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 483 Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding p.R487fs*3(2) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) agaACGCACCAGAGAGAGAGAG 0.470 T PDGFRA idiopathic hypereosinophilic syndrome 20 284 --- --- --- --- CLOCK 9575 broad.mit.edu 37 4 56304530 56304532 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr4:56304530_56304532delCTG ENST00000309964.4 - 21 2528_2530 c.2278_2280delCAG c.(2278-2280)del p.Q760del CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 760 Gln-rich. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) cctgggagctctgctgctgctgc 0.512 10 291 --- --- --- --- NPNT 255743 broad.mit.edu 37 4 106863682 106863684 + In_Frame_Del DEL CCA CCA - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr4:106863682_106863684delCCA ENST00000379987.2 + 8 1198_1200 c.982_984delCCA c.(982-984)del p.P333del NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 333 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) AATTCCTACTCCACCACCACCAC 0.522 8 374 --- --- --- --- AC092661.1 0 broad.mit.edu 37 4 118496039 118496040 + RNA INS - - A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr4:118496039_118496040insA ENST00000422145.3 + 0 159 NT5C3AP1_ENST00000441170.1_RNA TCTTTTTTTTTAATGGGTTAGA 0.342 2 4 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del P26583 HMGB2_HUMAN high mobility group box 2 196 Asp/Glu-rich (acidic). base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding p.E194E(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3) 14 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) atcttcttcttcctcctcctcct 0.468 9 379 --- --- --- --- FRG1 2483 broad.mit.edu 37 4 190873437 190873439 + In_Frame_Del DEL AAG AAG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr4:190873437_190873439delAAG ENST00000226798.4 + 3 476_478 c.254_256delAAG c.(253-258)aaa>a p.KE85del FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 85 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) GCTCCACACAAAGAAGGTTTGTG 0.414 13 598 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24492973 24492973 + Frame_Shift_Del DEL A A - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr5:24492973delA ENST00000264463.4 - 10 2084 c.1577delT c.(1576-1578)tcfs p.F526fs CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 526 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGCTAAACTGAAAAAAAATTT 0.313 HNSCC(23;0.051) 12 1023 --- --- --- --- AP3S1 1176 broad.mit.edu 37 5 115202418 115202421 + Frame_Shift_Del DEL AAGA AAGA - rs80118146 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr5:115202418_115202421delAAGA ENST00000316788.7 + 2 678_681 c.121_124delAAGA c.(121-126)gafs p.KR41fs NM_001284.2 NP_001275.1 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 subunit 41 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 12 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) TTTGGTATCTAAGAGAGATGAAAA 0.304 11 192 --- --- --- --- RAD50 10111 broad.mit.edu 37 5 131953986 131953987 + Splice_Site DEL AG AG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr5:131953986_131953987delAG ENST00000378823.3 + 21 3790 c.2972_splice c.e21+1 p.991_splice RAD50_ENST00000265335.6_Splice_Site_p.1130_splice NM_005732.3 NP_005723.2 Q92878 RAD50_HUMAN RAD50 homolog (S. cerevisiae) 1130 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACTCTTGACCAGTAAGTATTAG 0.292 Homologous recombination 9 153 --- --- --- --- VDAC1 7416 broad.mit.edu 37 5 133316639 133316639 + Frame_Shift_Del DEL T T - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr5:133316639delT ENST00000265333.3 - 6 576 c.332delA c.(331-333)atfs p.N111fs VDAC1_ENST00000395044.3_Frame_Shift_Del_p.N111fs|VDAC1_ENST00000395047.2_Frame_Shift_Del_p.N111fs NM_003374.2 NP_003365.1 P21796 VDAC1_HUMAN voltage-dependent anion channel 1 111 apoptosis|interspecies interaction between organisms mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex porin activity|protein binding|voltage-gated anion channel activity endometrium(1)|large_intestine(1)|lung(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) Dihydroxyaluminium(DB01375) GATTTTAGCATTTTTTTTCCT 0.403 7 280 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33411201 33411203 + In_Frame_Del DEL CAC CAC - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr6:33411201_33411203delCAC ENST00000418600.2 + 15 2973_2975 c.2872_2874delCAC c.(2872-2874)del p.H966del SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 966 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TTCCTCccatcaccaccaccacc 0.645 8 704 --- --- --- --- SOGA3 387104 broad.mit.edu 37 6 127804080 127804080 + Frame_Shift_Del DEL T T - rs34142169 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr6:127804080delT ENST00000556132.1 - 5 2399 c.1535delA c.(1534-1536)agfs 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|SOGA3_ENST00000465909.2_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 7 646 --- --- --- --- EPB41L2 2037 broad.mit.edu 37 6 131191073 131191075 + In_Frame_Del DEL CTG CTG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr6:131191073_131191075delCTG ENST00000337057.3 - 15 2416_2418 c.2235_2237delCAG c.(2233-2238)agt>ag p.SS745del EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000530757.1_Intron NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 745 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTCACTCTCACTGCTGCTGCTGC 0.562 7 329 --- --- --- --- SHPRH 257218 broad.mit.edu 37 6 146275964 146275964 + Frame_Shift_Del DEL T T - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr6:146275964delT ENST00000367503.3 - 2 893 c.495delA c.(493-495)aafs p.K165fs SHPRH_ENST00000367505.2_Frame_Shift_Del_p.K165fs|SHPRH_ENST00000438092.2_Frame_Shift_Del_p.K165fs|SHPRH_ENST00000275233.7_Frame_Shift_Del_p.K165fs NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 165 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding p.E166fs*7(1) 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) TCATCGGTTCTTTTTTTTGTT 0.363 8 334 --- --- --- --- ICA1 3382 broad.mit.edu 37 7 8198250 8198251 + Frame_Shift_Ins INS - - T TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr7:8198250_8198251insT ENST00000402384.3 - 7 877_878 c.611_612insA c.(610-612)attfs p.I204fs ICA1_ENST00000401396.1_Frame_Shift_Ins_p.I192fs|ICA1_ENST00000396675.3_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000422063.2_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000406470.2_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000407906.1_Frame_Shift_Ins_p.I204fs|ICA1_ENST00000265577.7_Frame_Shift_Ins_p.I203fs Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 204 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane p.N204fs*5(3) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) ATTTGTCAAAGTTTTTTTTTGC 0.376 7 376 --- --- --- --- MPP6 51678 broad.mit.edu 37 7 24705665 24705666 + Frame_Shift_Ins INS - - A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr7:24705665_24705666insA ENST00000396475.2 + 9 1208_1209 c.909_910insA c.(907-912)agaaaafs p.RK303fs MPP6_ENST00000222644.4_Frame_Shift_Ins_p.RK303fs|MPP6_ENST00000409761.1_Frame_Shift_Ins_p.RK191fs NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 303 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 CTATAAGTAGCAAAAAAAAGAA 0.302 8 584 --- --- --- --- PMS2P4 0 broad.mit.edu 37 7 66762433 66762433 + RNA DEL A A - rs68053451 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr7:66762433delA ENST00000414507.1 - 0 184 tctcaaaaagaaaaaaaaaaa 0.408 9 33 --- --- --- --- OR9A4 130075 broad.mit.edu 37 7 141619203 141619203 + Frame_Shift_Del DEL T T - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr7:141619203delT ENST00000548136.1 + 1 587 c.528delT c.(526-528)aafs p.N176fs MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TGGTGAACAATTTTTTTTGTG 0.383 9 775 --- --- --- --- TRBV7-4 0 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 8 269 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481923 142481925 + RNA DEL CAA CAA - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr7:142481923_142481925delCAA ENST00000603901.1 + 0 591 NR_001296.3 GTGATTAGACCAACCCTTCCCAT 0.537 13 312 --- --- --- --- NEFL 4747 broad.mit.edu 37 8 24811843 24811843 + RNA DEL A A - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr8:24811843delA ENST00000221169.5 - 0 1639 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AAAATAAAACAAAAAAAAAAT 0.328 7 145 --- --- --- --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G G - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr9:43844265delG ENST00000377564.3 + 10 1992 c.1599delG c.(1597-1599)gcfs p.A533fs NM_001201380.1 NP_001188309.1 Q96NU0 CNT3B_HUMAN contactin associated protein-like 3B 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 9 95 --- --- --- --- SLC39A12 221074 broad.mit.edu 37 10 18292166 18292166 + Frame_Shift_Del DEL G G - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr10:18292166delG ENST00000377369.2 + 12 2099 c.1826delG c.(1825-1827)acfs p.S610fs SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000539911.1_Frame_Shift_Del_p.S476fs|SLC39A12_ENST00000377371.3_Frame_Shift_Del_p.S609fs|SLC39A12_ENST00000377374.4_Frame_Shift_Del_p.S573fs|SLC39A12-AS1_ENST00000439319.1_RNA NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 610 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 AATTTTATAAGCTCCCTAACT 0.418 32 675 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del 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) 8 353 --- --- --- --- STAMBPL1 57559 broad.mit.edu 37 10 90682146 90682146 + Frame_Shift_Del DEL A A - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr10:90682146delA ENST00000371927.3 + 10 2165 c.1207delA c.(1207-1209)aafs p.K405fs STAMBPL1_ENST00000371926.3_Frame_Shift_Del_p.K405fs|STAMBPL1_ENST00000371922.1_Frame_Shift_Del_p.K239fs|STAMBPL1_ENST00000371924.1_Frame_Shift_Del_p.K405fs Q96FJ0 STALP_HUMAN STAM binding protein-like 1 405 metal ion binding|metallopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1) 11 Colorectal(252;0.0381) Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05) TTCTGCTTGTAAAAAAAAGGG 0.423 7 362 --- --- --- --- CADM1 23705 broad.mit.edu 37 11 115080312 115080314 + In_Frame_Del DEL TGG TGG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr11:115080312_115080314delTGG ENST00000537058.1 - 8 1078_1080 c.1058_1060delCCA c.(1057-1062)atc>a p.TI353del CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_In_Frame_Del_p.TI353del|CADM1_ENST00000331581.6_In_Frame_Del_p.TI353del|CADM1_ENST00000536727.1_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 353 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) atggtaaggatggtggtggtggt 0.429 7 317 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124735524 124735525 + Frame_Shift_Del DEL CT CT - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr11:124735524_124735525delCT ENST00000397801.1 + 1 243_244 c.51_52delCT c.(49-54)gactfs p.DS17fs NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 17 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGTTCGCGGACTCTCTGGCCGG 0.663 10 196 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr12:6711207_6711209delCTT ENST00000309577.6 - 4 518_520 c.355_357delAAG c.(355-357)del p.K119del CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 119 Poly-Lys. 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|zinc ion binding p.K119delK(3) central_nervous_system(2) 2 TAGGTCCAAGCTTCTTCTTCTTC 0.537 7 164 --- --- --- --- CCNT1 904 broad.mit.edu 37 12 49087434 49087436 + In_Frame_Del DEL ATG ATG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 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 10 1026 --- --- --- --- MLEC 9761 broad.mit.edu 37 12 121134166 121134168 + In_Frame_Del DEL GAA GAA - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr12:121134166_121134168delGAA ENST00000228506.3 + 5 1125_1127 c.697_699delGAA c.(697-699)del p.E238del MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 238 Poly-Glu. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding p.E233E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 gaaagaagaggaagaagaagaag 0.458 10 611 --- --- --- --- TOX4 9878 broad.mit.edu 37 14 21961060 21961062 + In_Frame_Del DEL GCT GCT - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr14:21961060_21961062delGCT ENST00000405508.1 + 8 1561_1563 c.1285_1287delGCT c.(1285-1287)del p.A434del TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del O94842 TOX4_HUMAN TOX high mobility group box family member 4 434 Gln/Pro-rich.|Poly-Ala. chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding p.A429A(1) large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) GGCAGCAGCAGCTGCTGCTGCTG 0.581 12 836 --- --- --- --- FAM63B 54629 broad.mit.edu 37 15 59144132 59144134 + In_Frame_Del DEL GCT GCT - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr15:59144132_59144134delGCT ENST00000559228.1 + 8 1787_1789 c.1705_1707delGCT c.(1705-1707)del p.A574del FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del Q8NBR6 FA63B_HUMAN family with sequence similarity 63, member B 574 Gln-rich. central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 15 ACAAGCAGCAGCTGCTGCTGCTG 0.468 8 384 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102304934 102304936 + RNA DEL TCT TCT - rs72450638 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr15:102304934_102304936delTCT ENST00000561463.1 + 0 12980_12982 AAGGAGTTCATCTTCTCAGAGCT 0.586 10 111 --- --- --- --- NAGPA 51172 broad.mit.edu 37 16 5083678 5083679 + Frame_Shift_Del DEL GC GC - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr16:5083678_5083679delGC ENST00000312251.3 - 2 156_157 c.137_138delGC c.(136-138)cfs p.R46fs NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs|NAGPA_ENST00000564922.1_5'UTR|RP11-165E7.1_ENST00000588778.1_RNA NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 46 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) CCCGGGGGAGGCGCGCGCGCGC 0.767 9 133 --- --- --- --- TNRC6A 27327 broad.mit.edu 37 16 24807240 24807240 + Frame_Shift_Del DEL A A - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr16:24807240delA ENST00000395799.3 + 9 3670 c.3541delA c.(3541-3543)aafs p.K1182fs TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1182 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCTGAGTGGCAAAAAAAGGAG 0.398 11 1032 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 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 7 1490 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72822441 72822441 + Frame_Shift_Del DEL T T - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr16:72822441delT ENST00000268489.5 - 10 10406 c.9734delA c.(9733-9735)agfs p.K3245fs ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.K2331fs NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3245 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TTTGTGTGCCTTTTCCTTCTC 0.617 7 888 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 7 1075 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr17:27001303_27001305delGAG ENST00000314616.6 + 3 395_397 c.112_114delGAG c.(112-114)del p.E43del SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 43 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCTTCCAGATGAGGAGGAGGAGG 0.453 7 183 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 7 1051 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 8 161 --- --- --- --- FHOD3 80206 broad.mit.edu 37 18 34261459 34261460 + Frame_Shift_Del DEL AG AG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr18:34261459_34261460delAG ENST00000257209.4 + 12 1493_1494 c.1371_1372delAG c.(1369-1374)gcagfs p.AE457fs FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs|FHOD3_ENST00000591635.1_Intron NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 457 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CACTGGCAGCAGAGAGAGAGAG 0.460 8 335 --- --- --- --- RTTN 25914 broad.mit.edu 37 18 67697249 67697249 + Splice_Site DEL T T - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr18:67697249delT ENST00000255674.6 - 42 6030 c.5745_splice c.e42+1 p.K1915_splice RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1915 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GAATGTTACCTTTTTTTTCAA 0.398 8 427 --- --- --- --- CHERP 10523 broad.mit.edu 37 19 16640581 16640583 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:16640581_16640583delTGC ENST00000546361.2 - 8 1156_1158 c.1005_1007delGCA c.(1003-1008)caa>ca p.QQ339del CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 339 Gln-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ctgctgctgttgctgctgctgct 0.670 7 161 --- --- --- --- ANO8 57719 broad.mit.edu 37 19 17435547 17435547 + Frame_Shift_Del DEL G G - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:17435547delG ENST00000159087.4 - 17 3468 c.3310delC c.(3310-3312)ggfs p.R1104fs NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 1104 chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 TCTTCGGGCCGGGGGGCTTCC 0.711 8 911 --- --- --- --- CD3EAP 10849 broad.mit.edu 37 19 45911859 45911861 + In_Frame_Del DEL GAA GAA - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:45911859_45911861delGAA ENST00000309424.3 + 3 1121_1123 c.633_635delGAA c.(631-636)cgg>cg p.RK211del ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000423698.2_3'UTR NM_012099.1 NP_036231.1 O15446 RPA34_HUMAN CD3e molecule, epsilon associated protein 211 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 11 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) TGGATGTGCGGAAGAAGAAGAAG 0.581 9 489 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 20 504 --- --- --- --- SIGLEC16 400709 broad.mit.edu 37 19 50474857 50474861 + RNA DEL GACGC GACGC - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 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 14 250 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - rs77187934 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:52877717delT ENST00000597976.1 + 3 325 c.305delT c.(304-306)atfs p.I102fs ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GGCCCCATAAttttttttttt 0.473 9 28 --- --- --- --- AC008984.2 0 broad.mit.edu 37 19 54843564 54843565 + RNA INS - - C rs144647366 by1000genomes TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:54843564_54843565insC ENST00000507363.1 - 0 430 CGGCTGCTCCTCCCCAGGCTGC 0.723 5 8 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|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_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del 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) 9 258 --- --- --- --- BRSK1 84446 broad.mit.edu 37 19 55815035 55815036 + Splice_Site INS - - C TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr19:55815035_55815036insC ENST00000309383.1 + 12 1404_1405 c.1126_splice c.e12-1 p.A376_splice BRSK1_ENST00000326848.7_Splice_Site_p.A71_splice|BRSK1_ENST00000590333.1_Splice_Site_p.A392_splice NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 376 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity p.R379fs*9(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) TGTCCCTCAGACCCCCCCCGGA 0.579 10 427 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61537401 61537402 + Frame_Shift_Ins INS - - T rs140153728 TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr20:61537401_61537402insT ENST00000266070.4 - 6 1750_1751 c.1425_1426insA c.(1423-1428)aaagacfs p.D476fs DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.D476fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 476 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) ACTGTGGTCTCTTTTTTTTCTG 0.490 11 490 --- --- --- --- YTHDF1 54915 broad.mit.edu 37 20 61833650 61833652 + In_Frame_Del DEL CCT CCT - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr20:61833650_61833652delCCT ENST00000370339.3 - 4 1981_1983 c.1640_1642delAGG c.(1639-1644)gtg>g p.EV547del YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 547 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TTGCGCACCACCTCCTCCTCCTC 0.557 8 610 --- --- --- --- APP 351 broad.mit.edu 37 21 27394182 27394184 + In_Frame_Del DEL GTG GTG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr21:27394182_27394184delGTG ENST00000358918.3 - 6 1036_1038 c.837_839delCAC c.(835-840)aca>ac p.TT279del APP_ENST00000474136.1_5'UTR|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del NM_001204301.1|NM_001204302.1 NP_001191230.1|NP_001191231.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 279 Poly-Thr. adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) CACAGACTCTgtggtggtggtgg 0.522 7 203 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr22:23959767_23959769delCAT ENST00000317749.5 - 7 809_811 c.512_514delATG c.(511-516)gcc>g p.DA171del NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 171 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 CTTACCTGGGcatcatcatcatc 0.433 8 288 --- --- --- --- MKL1 57591 broad.mit.edu 37 22 40816887 40816889 + In_Frame_Del DEL TGC TGC - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr22:40816887_40816889delTGC ENST00000396617.3 - 10 1433_1435 c.843_845delGCA c.(841-846)cac>ca p.QH281del MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 281 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GTAGTTGTGGTGCTGCTGCTGCT 0.660 T RBM15 acute megakaryocytic leukemia 8 228 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 13 333 --- --- --- --- ASB11 0 broad.mit.edu 37 X 15333659 15333660 + Frame_Shift_Ins INS - - A TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chrX:15333659_15333660insA ENST00000380470.3 - 1 86_87 c.68_69insT c.(67-69)tttfs p.F23fs ASB11_ENST00000480796.1_Frame_Shift_Ins_p.F23fs NM_001201583.1|NM_080873.2 NP_001188512.1|NP_543149.1 Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box containing 11 23 intracellular signal transduction breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1) 16 Hepatocellular(33;0.183) AAAGCTTAAAGAAAAAAAACGT 0.342 7 732 --- --- --- --- GNL3L 54552 broad.mit.edu 37 X 54578339 54578341 + In_Frame_Del DEL GAA GAA - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 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 10 399 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70360680 70360682 + In_Frame_Del DEL GCA GCA - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chrX:70360680_70360682delGCA ENST00000333646.6 + 42 6448_6450 c.6249_6251delGCA c.(6247-6252)cgg>cg p.RQ2083del MED12_ENST00000374102.1_In_Frame_Del_p.RQ2079del|MED12_ENST00000374080.3_In_Frame_Del_p.RQ2080del 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 11 216 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 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 9 681 --- --- --- --- ATP2B3 492 broad.mit.edu 37 X 152845611 152845611 + Frame_Shift_Del DEL C C - rs149428057 byFrequency TCGA-FB-AAPS-01A-12D-A397-08 TCGA-FB-AAPS-11A-11D-A39A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7597a785-60fd-4969-a7bc-8db1532e2ab8 65fd8e5e-e00c-4519-a8b4-456ec71e2c34 g.chrX:152845611delC ENST00000263519.4 + 20 3644 c.3518delC c.(3517-3519)gcfs p.A1173fs ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000349466.2_Frame_Shift_Del_p.A1173fs|ATP2B3_ENST00000370181.2_3'UTR NM_001001344.2 NP_001001344.1 Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 1173 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGCCTCCGGGCCCCCCCGCCC 0.587 7 1047 --- --- --- ---