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 IGHV2-26 0 broad.mit.edu 37 14 106757831 106757831 + RNA SNP C C T rs111777969 by1000genomes TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr14:106757831C>T ENST00000390611.2 - 0 199 TGGGGGCTGACGGATCCAGCT 0.547000 21 313 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195515449 195515449 + Missense_Mutation SNP A A T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr3:195515449A>T ENST00000463781.3 - 2 3461 c.3002T>A c.(3001-3003)gTa>gAa p.V1001E MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1006 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.V1001A(1)|p.V1001E(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACCTGTGGATACTGAGGAAGC 0.587000 3 31 0 0 1 0 0 FCN2 2220 broad.mit.edu 37 9 137772750 137772750 + Missense_Mutation SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr9:137772750C>T ENST00000350339.2 + 1 97 c.83C>T c.(82-84)gCg>gTg p.A28V FCN2_ENST00000291744.6_Missense_Mutation_p.A28V NM_015837.2 NP_056652.1 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 28 complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) GCTCTCCAGGCGGCAGACACC 0.617000 8 98 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1497799 1497799 + Missense_Mutation SNP G G A rs140124953 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr2:1497799G>A ENST00000345913.4 + 11 2085 c.1994G>A c.(1993-1995)cGg>cAg p.R665Q TPO_ENST00000382198.1_Missense_Mutation_p.R492Q|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Missense_Mutation_p.R665Q|TPO_ENST00000337415.3_Missense_Mutation_p.R665Q|TPO_ENST00000382201.3_Missense_Mutation_p.R608Q|TPO_ENST00000349624.3_Missense_Mutation_p.R492Q|TPO_ENST00000329066.4_Missense_Mutation_p.R665Q NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 665 R -> W (in TDH2A; fails to localize to the plasma membrane). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) AAGGCTCTGCGGGACGGTGAC 0.577000 24 267 0 0 1 0 0 KIR3DL3 115653 broad.mit.edu 37 19 55247491 55247491 + Silent SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr19:55247491C>T ENST00000291860.1 + 8 1179 c.1161C>T c.(1159-1161)tgC>tgT p.C387C KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron NM_153443.3 NP_703144.2 Q8N743 KI3L3_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 387 integral to membrane|plasma membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1) 21 GBM - Glioblastoma multiforme(193;0.0192) TGAATCACTGCGTTTTCACAC 0.517000 56 254 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 34 263 0 0 1 0 0 GPRIN1 114787 broad.mit.edu 37 5 176025336 176025336 + Silent SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr5:176025336C>T ENST00000303991.4 - 2 1677 c.1500G>A c.(1498-1500)ttG>ttA p.L500L NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 500 growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGCTGTCCCCAAGGACCTGG 0.547000 29 530 0 0 1 0 0 FCER1A 2205 broad.mit.edu 37 1 159273851 159273851 + Silent SNP T T A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:159273851T>A ENST00000368115.1 + 4 309 c.210T>A c.(208-210)ctT>ctA p.L70L FCER1A_ENST00000368114.1_Silent_p.L37L NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 70 Ig-like 1. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) ATGGCAGCCTTTCAGAAGAGA 0.368000 36 342 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148044334 148044334 + Missense_Mutation SNP G G A rs140927355 byFrequency TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chrX:148044334G>A ENST00000370460.2 + 13 3259 c.2780G>A c.(2779-2781)cGc>cAc p.R927H AFF2_ENST00000370457.5_Missense_Mutation_p.R894H|AFF2_ENST00000342251.3_Missense_Mutation_p.R894H|AFF2_ENST00000286437.5_Missense_Mutation_p.R568H NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 927 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) CCTCCACGCCGCAGAAATGTC 0.438000 36 256 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113126681 113126681 + Silent SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr11:113126681C>T ENST00000316851.7 + 14 1881 c.1881C>T c.(1879-1881)gaC>gaT p.D627D NCAM1_ENST00000533760.1_Silent_p.D509D|NCAM1_ENST00000397957.4_3'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 637 Fibronectin type-III 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AGCAGGATGACGGCGGCTCCC 0.552000 6 57 0 0 1 0 0 HR 55806 broad.mit.edu 37 8 21985133 21985133 + Silent SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr8:21985133C>T ENST00000381418.4 - 3 2302 c.822G>A c.(820-822)gtG>gtA p.V274V HR_ENST00000312841.8_Silent_p.V274V NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 274 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) AGGTCCAGGGCACAGTGTCTG 0.657000 42 538 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70627893 70627893 + Missense_Mutation SNP A A G TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chrX:70627893A>G ENST00000449580.1 + 28 4324 c.4273A>G c.(4273-4275)Atg>Gtg p.M1425V TAF1_ENST00000276072.3_Missense_Mutation_p.M1446V|TAF1_ENST00000423759.1_Missense_Mutation_p.M1446V|TAF1_ENST00000373790.4_Missense_Mutation_p.M1425V P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1425 Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) CACTCGGCCAATGGACCTACA 0.468000 33 410 0 0 1 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203821508 203821508 + Nonsense_Mutation SNP C C G TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:203821508C>G ENST00000545588.1 + 17 6241 c.2414C>G c.(2413-2415)tCa>tGa p.S805* ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805* NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 805 nucleic acid binding|protein binding|zinc ion binding p.S805*(3) central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CTTGAGCTATCAGAAATGATT 0.378000 7 212 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76918417 76918417 + Silent SNP A A G TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr11:76918417A>G ENST00000409709.3 + 42 6098 c.5826A>G c.(5824-5826)ggA>ggG p.G1942G MYO7A_ENST00000409619.2_Silent_p.G1893G|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Silent_p.G1904G NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1942 FERM 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCTCAGAGGGATTCAGCCTCT 0.572000 4 62 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89386782 89386782 + Silent SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr15:89386782C>T ENST00000439576.2 + 6 1328 c.954C>T c.(952-954)tgC>tgT p.C318C ACAN_ENST00000558207.1_Silent_p.C318C|ACAN_ENST00000561243.1_Silent_p.C318C|ACAN_ENST00000352105.7_Silent_p.C318C|ACAN_ENST00000559004.1_Silent_p.C318C NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 318 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGCCCAACTGCGGTGGCAACC 0.677000 11 189 0 0 1 0 0 DCLK2 166614 broad.mit.edu 37 4 151168835 151168835 + Missense_Mutation SNP T T C TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr4:151168835T>C ENST00000296550.7 + 13 2613 c.1859T>C c.(1858-1860)aTc>aCc p.I620T DCLK2_ENST00000302176.8_Missense_Mutation_p.I637T|DCLK2_ENST00000506325.1_Missense_Mutation_p.I619T NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 620 Protein kinase. intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TGGGATAACATCACGGACTCT 0.527000 7 196 0 0 1 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44506266 44506266 + Missense_Mutation SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr20:44506266G>A ENST00000255152.2 + 2 1278 c.1069G>A c.(1069-1071)Gta>Ata p.V357I ZSWIM3_ENST00000454862.2_Missense_Mutation_p.V351I NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 357 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) GTCCCAGGCCGTACTGGATGA 0.522000 20 338 0 0 1 0 0 ETV3L 440695 broad.mit.edu 37 1 157068532 157068532 + Missense_Mutation SNP C C T rs147712441 byFrequency TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:157068532C>T ENST00000454449.2 - 3 736 c.452G>A c.(451-453)cGg>cAg p.R151Q NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 151 R -> W (in dbSNP:rs12083811). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) CAGCGCTGGCCGACACAGGGC 0.647000 40 393 0 0 1 0 0 RTEL1 51750 broad.mit.edu 37 20 62292776 62292776 + Silent SNP G G A rs116624637 by1000genomes TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr20:62292776G>A ENST00000318100.4 + 3 1055 c.228G>A c.(226-228)gcG>gcA p.A76A RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A76A|RTEL1_ENST00000508582.2_Silent_p.A76A|RTEL1_ENST00000370018.3_Silent_p.A76A|RTEL1_ENST00000488316.1_3'UTR|RTEL1_ENST00000360203.5_Silent_p.A76A Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 76 Helicase ATP-binding. DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CCGAGAGGGCGCAAGGAGAGC 0.637000 14 229 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 21997786 21997786 + Missense_Mutation SNP A A T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr12:21997786A>T ENST00000261200.4 - 25 3159 c.3160T>A c.(3160-3162)Tcc>Acc p.S1054T ABCC9_ENST00000345162.2_Missense_Mutation_p.S1018T|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.S1054T NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1054 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACAGTGAGGGATGTAACAAGG 0.413000 42 387 0 0 1 0 0 VAC14 55697 broad.mit.edu 37 16 70834811 70834811 + Translation_Start_Site SNP G G T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr16:70834811G>T ENST00000261776.5 - 0 253 NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) CATGGTGGCAGCTGGGGGAAC 0.701000 9 118 0.307466 0.307466 1 1 0 PCDHGA7 0 broad.mit.edu 37 5 140763117 140763117 + Silent SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr5:140763117C>T ENST00000518325.1 + 1 651 c.651C>T c.(649-651)ggC>ggT p.G217G PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCTGATGGCGGCGACCCGC 0.607000 5 108 0 0 1 0 0 BTNL9 153579 broad.mit.edu 37 5 180475168 180475168 + Silent SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr5:180475168C>T ENST00000327705.9 + 3 582 c.351C>T c.(349-351)gtC>gtT p.V117V BTNL9_ENST00000376841.2_Silent_p.V117V|BTNL9_ENST00000515271.1_Silent_p.V48V|BTNL9_ENST00000376842.3_Silent_p.V117V NM_152547.4 NP_689760.2 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 117 Ig-like V-type. integral to membrane breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1) 19 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCAGCGTGGTCCTGCAGCTTC 0.597000 13 209 0 0 1 0 0 STON1-GTF2A1L 0 broad.mit.edu 37 2 48873884 48873884 + Silent SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr2:48873884C>T ENST00000394754.1 + 8 2907 c.2793C>T c.(2791-2793)atC>atT p.I931I STON1-GTF2A1L_ENST00000394751.3_Silent_p.I884I|GTF2A1L_ENST00000403751.3_Silent_p.I227I|STON1-GTF2A1L_ENST00000402114.2_Silent_p.I931I|STON1-GTF2A1L_ENST00000309827.2_Silent_p.I931I|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Silent_p.I931I|GTF2A1L_ENST00000430487.2_Silent_p.I193I NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 884 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGCATAAAATCGTGCCTGAAG 0.413000 21 377 0 0 1 0 0 OSBPL9 114883 broad.mit.edu 37 1 52249642 52249642 + Missense_Mutation SNP C C G rs61743086 byFrequency TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:52249642C>G ENST00000371710.3 + 18 1805 c.1623C>G c.(1621-1623)atC>atG p.I541M OSBPL9_ENST00000530544.1_Missense_Mutation_p.I442M|OSBPL9_ENST00000337809.4_Missense_Mutation_p.I528M|OSBPL9_ENST00000453295.1_Missense_Mutation_p.I506M|OSBPL9_ENST00000361556.5_Missense_Mutation_p.I413M|OSBPL9_ENST00000428468.1_Missense_Mutation_p.I523M|OSBPL9_ENST00000531828.1_Missense_Mutation_p.I358M|OSBPL9_ENST00000486942.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000447887.1_Missense_Mutation_p.I533M|OSBPL9_ENST00000435686.2_Missense_Mutation_p.I358M|OSBPL9_ENST00000371714.1_Missense_Mutation_p.I510M|OSBPL9_ENST00000462759.1_Missense_Mutation_p.I345M NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 523 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 ATGCTCATATCTGGACCAAAT 0.368000 19 334 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10645395 10645395 + Silent SNP G G T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr11:10645395G>T ENST00000547195.1 - 9 1604 c.1104C>A c.(1102-1104)atC>atA p.I368I MRVI1_ENST00000421747.1_Silent_p.I450I|MRVI1_ENST00000541483.1_Silent_p.I253I|MRVI1_ENST00000423302.2_Silent_p.I459I|MRVI1_ENST00000552103.1_Silent_p.I368I|MRVI1_ENST00000534266.2_Silent_p.I144I|MRVI1_ENST00000424001.1_Silent_p.I144I|MRVI1_ENST00000545852.1_Silent_p.I144I|MRVI1_ENST00000527509.2_Silent_p.I368I|MRVI1_ENST00000558540.1_Silent_p.I144I|MRVI1_ENST00000531107.1_Silent_p.I451I|MRVI1_ENST00000436272.1_Silent_p.I432I NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 432 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TTCTCATCAGGATGTGCTCCT 0.483000 16 192 3.45872e-05 3.51835e-05 1 1 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda 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 8 304 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35699041 35699041 + Silent SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr9:35699041C>T ENST00000314888.9 - 52 7340 c.6987G>A c.(6985-6987)cgG>cgA p.R2329R TLN1_ENST00000540444.1_Silent_p.R2217R NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 2329 I/LWEQ. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGGGTTTGGCCCGGGGCTTCA 0.567000 28 253 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51288700 51288700 + Silent SNP T T G TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr14:51288700T>G ENST00000245441.5 - 3 265 c.75A>C c.(73-75)acA>acC p.T25T NIN_ENST00000389868.3_Silent_p.T25T|NIN_ENST00000382041.3_Silent_p.T25T|NIN_ENST00000324330.9_Silent_p.T25T|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000530997.2_Silent_p.T25T|NIN_ENST00000453196.1_Silent_p.T25T|NIN_ENST00000382043.4_Silent_p.T25T NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 25 EF-hand 1. centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) CCAGGGACCCTGTGCCCGTCG 0.582000 T PDGFRB MPD 111 1125 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149524951 149524951 + RNA SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr7:149524951G>A ENST00000378016.2 + 0 14862 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CAAAGACCCAGAGTAACTGCA 0.682000 14 204 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28736086 28736086 + Missense_Mutation SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr18:28736086G>A ENST00000257197.3 - 4 652 c.391C>T c.(391-393)Cgc>Tgc p.R131C DSC1_ENST00000257198.5_Missense_Mutation_p.R131C|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 131 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding p.R131C(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CTCTTGCTGCGCTTGAGGGCT 0.418000 11 347 0 0 1 0 0 OSBPL9 114883 broad.mit.edu 37 1 52249970 52249970 + Silent SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:52249970C>T ENST00000371710.3 + 19 1895 c.1713C>T c.(1711-1713)taC>taT p.Y571Y OSBPL9_ENST00000530544.1_Silent_p.Y472Y|OSBPL9_ENST00000337809.4_Silent_p.Y558Y|OSBPL9_ENST00000453295.1_Silent_p.Y536Y|OSBPL9_ENST00000361556.5_Silent_p.Y443Y|OSBPL9_ENST00000428468.1_Silent_p.Y553Y|OSBPL9_ENST00000531828.1_Silent_p.Y388Y|OSBPL9_ENST00000486942.1_Silent_p.Y375Y|OSBPL9_ENST00000447887.1_Silent_p.Y563Y|OSBPL9_ENST00000435686.2_Silent_p.Y388Y|OSBPL9_ENST00000371714.1_Silent_p.Y540Y|OSBPL9_ENST00000462759.1_Silent_p.Y375Y NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 553 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 ATGAACATTACATTCTCACAT 0.488000 47 464 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325846 79325846 + Silent SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr9:79325846G>A ENST00000428286.1 - 8 1467 c.267C>T c.(265-267)gaC>gaT p.D89D PRUNE2_ENST00000376718.3_Silent_p.D448D Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 448 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CGGGGCTGTCGTCACTGAGGA 0.602000 18 177 0 0 1 0 0 FAM86JP 0 broad.mit.edu 37 3 125647387 125647387 + RNA SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr3:125647387G>A ENST00000485843.1 + 0 532 NR_024251.1 ACCAGAAACTGTTTCCCTATG 0.502000 12 650 0 0 1 0 0 TXNDC15 79770 broad.mit.edu 37 5 134232006 134232006 + Missense_Mutation SNP G G A rs139088311 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr5:134232006G>A ENST00000358387.4 + 4 1403 c.778G>A c.(778-780)Gta>Ata p.V260I TXNDC15_ENST00000546290.1_Missense_Mutation_p.V237I NM_024715.3 NP_078991.3 Q96J42 TXD15_HUMAN thioredoxin domain containing 15 260 Thioredoxin. cell redox homeostasis integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTTTGGCACCGTAGCTGTTCC 0.338000 40 546 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr9:78790192C>G ENST00000376767.3 + 14 2559 c.2047C>G c.(2047-2049)Cga>Gga p.R683G PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 ggaatggaatcgaatcgaatc 0.373000 4 41 0 0 1 0 0 CAPRIN1 4076 broad.mit.edu 37 11 34107957 34107957 + Missense_Mutation SNP C C G TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr11:34107957C>G ENST00000341394.4 + 11 1417 c.1228C>G c.(1228-1230)Cca>Gca p.P410A CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P329A|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P410A|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P410A|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P410A NM_005898.4 NP_005889.3 Q14444 CAPR1_HUMAN cell cycle associated protein 1 410 negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule protein binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 18 Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016) GGTTTGCCCTCCAGGTTAGTA 0.363000 20 179 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153035996 153035996 + Missense_Mutation SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chrX:153035996G>A ENST00000538966.1 + 11 2249 c.1978G>A c.(1978-1980)Gtg>Atg p.V660M PLXNB3_ENST00000538282.1_Missense_Mutation_p.V247M|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Missense_Mutation_p.V290M|PLXNB3_ENST00000361971.5_Missense_Mutation_p.V637M NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 637 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TCGCGCTTGCGTGGGCAGCAT 0.677000 9 117 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30686373 30686373 + Missense_Mutation SNP T T A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr3:30686373T>A ENST00000295754.5 + 2 611 c.229T>A c.(229-231)Tgt>Agt p.C77S TGFBR2_ENST00000359013.4_Missense_Mutation_p.C102S NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 77 activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 CACCTCCATCTGTGAGAAGCC 0.408000 13 188 0 0 1 0 0 SLC25A10 1468 broad.mit.edu 37 17 79673938 79673938 + Silent SNP G G A rs140892819 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr17:79673938G>A ENST00000571730.1 + 4 479 c.348G>A c.(346-348)gcG>gcA p.A116A SLC25A10_ENST00000541223.1_Silent_p.A116A|MRPL12_ENST00000333676.3_Silent_p.A116A Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 0 gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 14 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) TCCCTAAGGCGGTGGAAGAAG 0.577000 12 153 0 0 1 0 0 TRIM26 7726 broad.mit.edu 37 6 30166741 30166741 + Missense_Mutation SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr6:30166741G>A ENST00000454678.2 - 4 576 c.140C>T c.(139-141)tCa>tTa p.S47L TRIM26_ENST00000453195.1_Missense_Mutation_p.S47L|TRIM26_ENST00000487829.1_5'UTR|TRIM26_ENST00000437089.1_Missense_Mutation_p.S47L NM_003449.4 NP_003440.1 Q12899 TRI26_HUMAN tripartite motif containing 26 47 DNA binding|zinc ion binding lung(1)|ovary(2) 3 GCGGCTCCCTGAGATGGGGCG 0.602000 25 210 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87969936 87969936 + Missense_Mutation SNP C C A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr6:87969936C>A ENST00000369577.3 + 8 6632 c.6589C>A c.(6589-6591)Cat>Aat p.H2197N ZNF292_ENST00000339907.4_Missense_Mutation_p.H2192N NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 2197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) CATGAAACTTCATGAAATGAC 0.353000 56 736 1.13205e-32 1.19269e-32 1 1 0 FAM86JP 0 broad.mit.edu 37 3 125647396 125647396 + RNA SNP T T C TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr3:125647396T>C ENST00000485843.1 + 0 541 NR_024251.1 TGTTTCCCTATGAAGAGCACT 0.502000 12 646 0 0 1 0 0 ENDOD1 23052 broad.mit.edu 37 11 94862206 94862206 + Silent SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr11:94862206G>A ENST00000278505.4 + 2 1084 c.966G>A c.(964-966)gaG>gaA p.E322E NM_015036.2 NP_055851.1 O94919 ENDD1_HUMAN endonuclease domain containing 1 322 extracellular region endonuclease activity|metal ion binding|nucleic acid binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) AGGCATCTGAGGGAAGTAGTA 0.433000 27 325 0 0 1 0 0 FBXO15 201456 broad.mit.edu 37 18 71790624 71790624 + Missense_Mutation SNP G G A rs144253482 byFrequency TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr18:71790624G>A ENST00000269500.5 - 8 1224 c.889C>T c.(889-891)Cgc>Tgc p.R297C FBXO15_ENST00000419743.2_Missense_Mutation_p.R373C NM_152676.2 NP_689889.1 Q8NCQ5 FBX15_HUMAN F-box protein 15 297 autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 27 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) AAGAGATTGCGAAATGTACCA 0.428000 24 270 0 0 1 0 0 THEMIS 387357 broad.mit.edu 37 6 128134640 128134640 + Silent SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr6:128134640G>A ENST00000368250.1 - 5 1407 c.909C>T c.(907-909)tcC>tcT p.S303S THEMIS_ENST00000543064.1_Silent_p.S382S|THEMIS_ENST00000537166.1_Silent_p.S347S|THEMIS_ENST00000368248.2_Silent_p.S382S Q8N1K5 THMS1_HUMAN thymocyte selection associated 382 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 CAACAGATACGGATGACAGCT 0.488000 38 319 0 0 1 0 0 TBC1D32 221322 broad.mit.edu 37 6 121402015 121402015 + Nonsense_Mutation SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr6:121402015G>A ENST00000275159.6 - 33 3798 c.3799C>T c.(3799-3801)Cga>Tga p.R1267* TBC1D32_ENST00000398212.2_Nonsense_Mutation_p.R1226*|TBC1D32_ENST00000398197.2_5'UTR TBC1 domain family, member 32 TCACTCACTCGAAACCCATGC 0.353000 37 328 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625934 29625934 + Missense_Mutation SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr20:29625934C>T ENST00000278882.3 + 5 558 c.178C>T c.(178-180)Cat>Tat p.H60Y FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACTTGTTGGGCATTCAGATGC 0.338000 9 397 0 0 1 0 0 NRSN1 140767 broad.mit.edu 37 6 24145857 24145857 + Missense_Mutation SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr6:24145857G>A ENST00000378491.4 + 4 572 c.271G>A c.(271-273)Gaa>Aaa p.E91K NM_080723.4 NP_542454.3 Q8IZ57 NRSN1_HUMAN neurensin 1 91 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle p.E91K(2) breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 22 CCCCAAAATCGAAGCATTTGG 0.488000 37 428 0 0 1 0 0 SH2D4A 63898 broad.mit.edu 37 8 19250984 19250984 + Missense_Mutation SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr8:19250984G>A ENST00000265807.3 + 9 1615 c.1204G>A c.(1204-1206)Gcc>Acc p.A402T SH2D4A_ENST00000518040.1_Missense_Mutation_p.A357T|SH2D4A_ENST00000519207.1_Missense_Mutation_p.A402T NM_001174160.1|NM_022071.3 NP_001167631.1|NP_071354.2 Q9H788 SH24A_HUMAN SH2 domain containing 4A 402 SH2. cytoplasm|nucleus protein binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1) 16 Colorectal(111;0.0732) CTCTGCAGACGCCTACAGCTT 0.498000 27 299 0 0 1 0 0 OSBPL9 114883 broad.mit.edu 37 1 52249653 52249653 + Missense_Mutation SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:52249653C>T ENST00000371710.3 + 18 1816 c.1634C>T c.(1633-1635)tCa>tTa p.S545L OSBPL9_ENST00000530544.1_Missense_Mutation_p.S446L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S532L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S510L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S417L|OSBPL9_ENST00000428468.1_Missense_Mutation_p.S527L|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S362L|OSBPL9_ENST00000486942.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S537L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S362L|OSBPL9_ENST00000371714.1_Missense_Mutation_p.S514L|OSBPL9_ENST00000462759.1_Missense_Mutation_p.S349L NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 527 lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 TGGACCAAATCAAAATTCCTT 0.348000 16 343 0 0 1 0 0 ZXDB 158586 broad.mit.edu 37 X 57619097 57619097 + Missense_Mutation SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chrX:57619097G>A ENST00000374888.1 + 1 829 c.616G>A c.(616-618)Ggg>Agg p.G206R NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.G206R(2) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 CCAGCAGCCCGGGTGTCTGAT 0.711000 6 102 0 0 1 0 0 MVB12B 89853 broad.mit.edu 37 9 129184132 129184132 + Splice_Site SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr9:129184132G>A ENST00000361171.3 + 7 743 c.e7-1 MVB12B_ENST00000436593.3_Splice_Site NM_033446.2 NP_258257.1 multivesicular body subunit 12B CTCTTCCTCAGGCACATCTCC 0.522000 32 549 0 0 1 0 0 HIPK3 10114 broad.mit.edu 37 11 33373261 33373261 + Missense_Mutation SNP A A T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr11:33373261A>T ENST00000303296.4 + 15 3220 c.2915A>T c.(2914-2916)gAc>gTc p.D972V HIPK3_ENST00000379016.3_Missense_Mutation_p.D951V|HIPK3_ENST00000525975.1_Missense_Mutation_p.D951V|HIPK3_ENST00000456517.1_Missense_Mutation_p.D951V NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 972 Required for localization to nuclear speckles (By similarity). anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 TTTGTGGAGGACACTCATGAA 0.478000 25 282 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 15 188 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177934213 177934213 + Missense_Mutation SNP G G C TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:177934213G>C ENST00000308284.6 - 4 591 c.502C>G c.(502-504)Cca>Gca p.P168A RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.P168A|RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.P168A NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 168 Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 GTTCCAAATGGACTGTGCTGG 0.448000 6 87 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 19 182 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13612273 13612273 + Missense_Mutation SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr3:13612273G>A ENST00000404922.3 + 2 537 c.418G>A c.(418-420)Gtc>Atc p.V140I FBLN2_ENST00000492059.1_Missense_Mutation_p.V140I|FBLN2_ENST00000295760.7_Missense_Mutation_p.V140I|FBLN2_ENST00000535798.1_Missense_Mutation_p.V166I NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 140 N.|Subdomain NA (Cys-rich). proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GGTGGGCTGCGTCCACGCGGG 0.677000 6 60 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158596687 158596687 + Missense_Mutation SNP T T G TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:158596687T>G ENST00000368148.3 - 41 5955 c.5775A>C c.(5773-5775)gaA>gaC p.E1925D SPTA1_ENST00000368147.3_Missense_Mutation_p.E1922D|SPTA1_ENST00000461624.1_5'UTR NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1925 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 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) CATAATCGTCTTCCAATTGCA 0.453000 47 650 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 205829959 205829959 + Missense_Mutation SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr2:205829959G>A ENST00000406610.2 + 3 514 c.307G>A c.(307-309)Gct>Act p.A103T PARD3B_ENST00000349953.3_Missense_Mutation_p.A103T|PARD3B_ENST00000462231.1_Missense_Mutation_p.A103T|PARD3B_ENST00000358768.2_Missense_Mutation_p.A103T|PARD3B_ENST00000351153.1_Missense_Mutation_p.A103T NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 103 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) GAGCCCAGATGCTTTTGAGAC 0.478000 14 198 0 0 1 0 0 CYP2D7P1 0 broad.mit.edu 37 22 42538870 42538870 + RNA SNP A A C rs2982057 by1000genomes TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr22:42538870A>C ENST00000358097.4 - 0 449 CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA endometrium(1) 1 CCATAGCGCGACAGGAACACC 0.687000 6 100 0 0 1 0 0 SNAP29 9342 broad.mit.edu 37 22 21213614 21213614 + Silent SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr22:21213614G>A ENST00000215730.6 + 1 344 c.216G>A c.(214-216)aaG>aaA p.K72K NM_004782.3 NP_004773.1 O95721 SNP29_HUMAN synaptosomal-associated protein, 29kDa 72 cellular membrane fusion|exocytosis|protein transport|vesicle targeting cell junction|cytoplasm|nucleus|synapse|synaptosome SNAP receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1) 9 all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117) AGTCCGAGAAGGTTGGGGTCG 0.637000 10 120 0 0 1 0 0 KRBOX4 55634 broad.mit.edu 37 X 46332385 46332385 + Missense_Mutation SNP G G C TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chrX:46332385G>C ENST00000344302.4 + 6 1085 c.454G>C c.(454-456)Gca>Cca p.A152P KRBOX4_ENST00000298190.6_Missense_Mutation_p.A147P|KRBOX4_ENST00000360017.5_3'UTR|KRBOX4_ENST00000487081.1_3'UTR|KRBOX4_ENST00000478600.1_Intron NM_001129898.1|NM_017776.2 NP_001123370.1|NP_060246.2 KRAB box domain containing 4 GTGGGAAAAGGCATTCAAAAC 0.338000 23 208 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 7 188 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr12:25398284C>A ENST00000311936.3 - 2 226 c.35G>T c.(34-36)gGt>gTt p.G12V KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 88 0.0381472 0.0384733 1 1 0 WHAMMP3 0 broad.mit.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr15:23205108C>T ENST00000400153.2 - 0 746 NR_003521.1 GTGGTTGCCACGGTAACTAAT 0.393000 4 71 0 0 1 0 0 PSMC2 5701 broad.mit.edu 37 7 102996160 102996160 + Silent SNP T T C TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr7:102996160T>C ENST00000435765.1 + 5 621 c.210T>C c.(208-210)acT>acC p.T70T SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000544811.1_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Silent_p.T70T NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 70 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 AATCTGACACTGGCCTGGCCC 0.448000 14 168 0 0 1 0 0 EHMT1 79813 broad.mit.edu 37 9 140637837 140637837 + Missense_Mutation SNP G G T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr9:140637837G>T ENST00000460843.1 + 5 865 c.838G>T c.(838-840)Gtt>Ttt p.V280F EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.V280F|EHMT1_ENST00000334856.6_Missense_Mutation_p.V249F NM_024757.4 NP_079033.4 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 280 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding p.V249F(2)|p.V280F(2) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) cttgccttttgttttAGCAGC 0.358000 14 162 2.32078e-09 2.38133e-09 1 1 0 PACSIN3 29763 broad.mit.edu 37 11 47203984 47203984 + Missense_Mutation SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr11:47203984C>T ENST00000539589.1 - 4 523 c.181G>A c.(181-183)Gcc>Acc p.A61T PACSIN3_ENST00000298838.6_Missense_Mutation_p.A61T NM_001184975.1 NP_001171904.1 Q9UKS6 PACN3_HUMAN protein kinase C and casein kinase substrate in neurons 3 61 FCH. A -> V (in dbSNP:rs7106654). endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis cytoplasm|plasma membrane cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5) 11 CACTTTCGGGCCCAGTCAGCC 0.677000 32 355 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20854341 20854341 + Missense_Mutation SNP G G T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr12:20854341G>T ENST00000381552.1 + 3 587 c.219G>T c.(217-219)agG>agT p.R73S SLCO1C1_ENST00000266509.2_Missense_Mutation_p.R73S|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R73S|SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.R73S Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 73 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) TAGAGAGAAGGTTTGATATCC 0.393000 35 417 2.47316e-13 2.55994e-13 1 1 0 NGF 4803 broad.mit.edu 37 1 115829233 115829233 + Missense_Mutation SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:115829233G>A ENST00000369512.2 - 3 352 c.184C>T c.(184-186)Cgc>Tgc p.R62C RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 62 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) CCCGCCACGCGTGCAGCTATC 0.632000 19 248 0 0 1 0 0 SMPD4 55627 broad.mit.edu 37 2 130921950 130921950 + Missense_Mutation SNP G G C TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr2:130921950G>C ENST00000452225.2 - 4 357 c.119C>G c.(118-120)cCa>cGa p.P40R SMPD4_ENST00000351288.6_Silent_p.A326A|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000409031.1_Silent_p.A326A|SMPD4_ENST00000426662.2_Missense_Mutation_p.P40R|SMPD4_ENST00000339679.7_Silent_p.A213A|SMPD4_ENST00000431183.2_Silent_p.A253A|SMPD4_ENST00000453750.1_Silent_p.A104A|SMPD4_ENST00000443958.2_Silent_p.A19A Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 0 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) AACATACCTTGGCATGAGGGG 0.448000 7 262 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195404651 195404651 + RNA SNP C C G rs1996904 by1000genomes TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr3:195404651C>G ENST00000445430.1 + 0 1508 TGTCACGAATCTTGACAAATT 0.418000 4 82 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547138 132547138 + Silent SNP A A G rs35873108 byFrequency TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr12:132547138A>G ENST00000333577.4 + 48 8443 c.8334A>G c.(8332-8334)caA>caG p.Q2778Q EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000332482.4_Silent_p.Q2705Q Q96L91 EP400_HUMAN E1A binding protein p400 2778 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.Q2741Q(3)|p.Q2742Q(1) 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) agcagcagcaacagcagcagc 0.602000 9 245 0 0 1 0 0 ZFP91 80829 broad.mit.edu 37 11 58347089 58347089 + Missense_Mutation SNP G G A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr11:58347089G>A ENST00000316059.6 + 1 506 c.335G>A c.(334-336)cGa>cAa p.R112Q ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R112Q NM_001197051.1|NM_053023.4 NP_001183980.1|NP_444251.1 Q96JP5 ZFP91_HUMAN ZFP91 zinc finger protein 112 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) AAGAGTCCGCGACTCCTGTGA 0.672000 OREG0020976 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 89 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584750 82584750 + Missense_Mutation SNP T T C TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr7:82584750T>C ENST00000423517.2 - 5 5856 c.5519A>G c.(5518-5520)gAa>gGa p.E1840G PCLO_ENST00000333891.8_Missense_Mutation_p.E1840G NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1771 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACGTAACTCTTCTGTCGGAGA 0.438000 74 768 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43447240 43447240 + Silent SNP A A G TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr7:43447240A>G ENST00000395891.1 + 8 1316 c.711A>G c.(709-711)aaA>aaG p.K237K HECW1_ENST00000453890.1_Silent_p.K237K|HECW1_ENST00000471043.1_3'UTR NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 237 C2. 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 AGCCTGGGAAACACAGCATCT 0.493000 19 202 0 0 1 0 0 RAD17 5884 broad.mit.edu 37 5 68692367 68692367 + Missense_Mutation SNP T T A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr5:68692367T>A ENST00000509734.1 + 15 2277 c.1599T>A c.(1597-1599)aaT>aaA p.N533K RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 533 Interaction with MCM7. cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) TTCTAATAAATAAAAAGGTAA 0.338000 Other conserved DNA damage response genes 11 68 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31918989 31918989 + Missense_Mutation SNP C C T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr6:31918989C>T ENST00000556679.1 + 27 3485 c.3430C>T c.(3430-3432)Cgg>Tgg p.R1144W CFB_ENST00000425368.2_Missense_Mutation_p.R642W|CFB_ENST00000456570.1_Missense_Mutation_p.R1144W|CFB_ENST00000477310.1_Missense_Mutation_p.R993W P00751 CFAB_HUMAN complement factor B 642 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 AAAGCTGACTCGGAAGGAGGT 0.502000 39 337 0 0 1 0 0 RP11-206L10.2 0 broad.mit.edu 37 1 700532 700532 + RNA SNP T T A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:700532T>A ENST00000428504.1 - 0 1021 NR_033908.1 aaaaaaaaaaTTCCTTTGGGA 0.453000 5 23 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR 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 9 376 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41533755 41533755 + Missense_Mutation SNP A A G TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr22:41533755A>G ENST00000263253.7 + 8 2940 c.1721A>G c.(1720-1722)gAt>gGt p.D574G NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 574 KIX. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TGGCACGAAGATATTACTCAG 0.438000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 29 335 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 6 267 0 0 1 0 0 RP11-206L10.2 0 broad.mit.edu 37 1 700514 700514 + RNA DEL A A - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:700514delA ENST00000428504.1 - 0 1039 NR_033908.1 actccatctcaaaaaaaaaaa 0.453 8 31 --- --- --- --- PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 503 --- --- --- --- VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 12 998 --- --- --- --- RERE 473 broad.mit.edu 37 1 8716322 8716327 + In_Frame_Del DEL TCTTTG TCTTTG - rs3831914 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:8716322_8716327delTCTTTG ENST00000337907.3 - 3 664_669 c.30_35delCAAAGA c.(28-36)gag>ga p.DKE10del RERE_ENST00000400908.2_In_Frame_Del_p.DKE10del|RERE_ENST00000400907.2_In_Frame_Del_p.DKE10del NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 10 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) ccggtccttctctttgtctttgtctt 0.539 12 1413 --- --- --- --- MUTYH 4595 broad.mit.edu 37 1 45795066 45795066 + Frame_Shift_Del DEL T T - rs34961970 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:45795066delT ENST00000450313.1 - 16 1777 c.1562delA c.(1561-1563)agfs p.K521fs MUTYH_ENST00000488731.2_Frame_Shift_Del_p.K188fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.K494fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.K508fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.K188fs|MUTYH_ENST00000372098.3_Frame_Shift_Del_p.K518fs|MUTYH_ENST00000372104.1_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.K202fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.K504fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.K493fs|MUTYH_ENST00000531105.1_Frame_Shift_Del_p.K53fs|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.K507fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.K504fs NM_001128425.1|NM_012222.2 NP_001121897.1|NP_036354.1 Q9UIF7 MUTYH_HUMAN mutY homolog 518 depurination|mismatch repair nucleoplasm 4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) CATGCGGGGCTTTTTCCGACT 0.547 Mis colorectal Base excision repair (BER), DNA glycosylases MUTYH-associated polyposis 7 1140 --- --- --- --- GBP2 2634 broad.mit.edu 37 1 89587526 89587528 + In_Frame_Del DEL CCA CCA - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:89587526_89587528delCCA ENST00000370466.3 - 2 390_392 c.122_124delTGG c.(121-126)gcg>g p.VA41del NM_004120.3 NP_004111.2 P32456 GBP2_HUMAN guanylate binding protein 2, interferon-inducible 41 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1) 20 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) CCCACAATCGCCACCACCACCAC 0.527 8 572 --- --- --- --- CLCC1 23155 broad.mit.edu 37 1 109477407 109477407 + Frame_Shift_Del DEL T T - rs150759040 by1000genomes TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:109477407delT ENST00000369971.2 - 11 1670 c.1541delA c.(1540-1542)agfs p.K514fs CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs NM_001048210.1 NP_001041675.1 Q96S66 CLCC1_HUMAN chloride channel CLIC-like 1 514 endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) GAGCTGGGCCTTTTCCGCTGC 0.597 7 749 --- --- --- --- ANKRD20A12P 0 broad.mit.edu 37 1 142716575 142716578 + RNA DEL AAAC AAAC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:142716575_142716578delAAAC ENST00000595144.1 - 0 418 catctcagaaaaacaaacaaacaa 0.422 13 423 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 10 96 --- --- --- --- ADAMTSL4 54507 broad.mit.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - rs149280379 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:150530506delG ENST00000271643.4 + 14 2499 c.2263delG c.(2263-2265)ggfs p.G758fs ADAMTSL4_ENST00000369041.5_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369038.2_Frame_Shift_Del_p.G758fs|ADAMTSL4_ENST00000369039.5_Frame_Shift_Del_p.G781fs NM_019032.4 NP_061905.2 Q6UY14 ATL4_HUMAN ADAMTS-like 4 758 TSP type-1 2. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3) 32 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GCAGGAATTTGGGGGGGGTGG 0.692 9 693 --- --- --- --- TDRD10 126668 broad.mit.edu 37 1 154493902 154493902 + Frame_Shift_Del DEL A A - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:154493902delA ENST00000368482.4 + 6 1154 c.316delA c.(316-318)aafs p.K106fs TDRD10_ENST00000368480.3_Frame_Shift_Del_p.K106fs|TDRD10_ENST00000479937.1_3'UTR NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 106 RRM. nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) GAATACAAGCAAAAGGCCCCC 0.517 7 1208 --- --- --- --- ISG20L2 81875 broad.mit.edu 37 1 156694023 156694023 + Frame_Shift_Del DEL G G - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:156694023delG ENST00000313146.6 - 2 1647 c.865delC c.(865-867)tcfs p.L289fs ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.1_5'UTR NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 289 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTCCGGTTGAGGGGGGGGATA 0.557 10 450 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 9 408 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186276542 186276544 + In_Frame_Del DEL CTC CTC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:186276542_186276544delCTC ENST00000445192.2 + 7 1736_1738 c.1691_1693delCTC c.(1690-1695)acc>a p.TP564del PRG4_ENST00000367485.4_In_Frame_Del_p.TP471del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.TP523del|PRG4_ENST00000367486.3_In_Frame_Del_p.TP521del NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 564 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 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 GCACCCACCACTCCCAAGGAGCC 0.640 21 745 --- --- --- --- CFH 3075 broad.mit.edu 37 1 196646766 196646766 + Frame_Shift_Del DEL T T - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr1:196646766delT ENST00000367429.4 + 5 828 c.588delT c.(586-588)ggfs p.G196fs CFH_ENST00000439155.2_Frame_Shift_Del_p.G196fs|CFH_ENST00000359637.2_Intron NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 196 Sushi 3. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CAGACGATGGTTTTTGGAGTA 0.343 7 719 --- --- --- --- IPO9 55705 broad.mit.edu 37 1 201843998 201844000 + In_Frame_Del DEL GAG GAG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda 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 7 551 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 8 501 --- --- --- --- SMC6 79677 broad.mit.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr2:17898126delT ENST00000448223.2 - 14 1497 c.1228delA c.(1228-1230)tafs p.I410fs SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 410 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AACCAAGATATTTTTTTTTGT 0.343 12 230 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CATTTTGTCTTCCTCCTCCTCCT 0.542 11 696 --- --- --- --- RMDN2 151393 broad.mit.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr2:38178783delT ENST00000407257.1 + 2 572 c.425delT c.(424-426)atfs p.I142fs RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000354545.2_Intron regulator of microtubule dynamics 2 AAGAGTGCCATTTTTTTTGAT 0.333 10 456 --- --- --- --- CCDC88A 55704 broad.mit.edu 37 2 55549818 55549818 + Frame_Shift_Del DEL T T - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr2:55549818delT ENST00000436346.1 - 18 3849 c.3008delA c.(3007-3009)atfs p.N1003fs CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1003 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 AGCTTCATAATTTTTTTTCAC 0.353 9 320 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61447488 61447488 + Frame_Shift_Del DEL G G - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr2:61447488delG ENST00000398571.2 - 67 8080 c.8004delC c.(8002-8004)gtfs p.V2668fs USP34_ENST00000472689.1_5'UTR NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 2668 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) GAAACCGCTCGACCCAGTTTT 0.378 7 1826 --- --- --- --- MOGS 7841 broad.mit.edu 37 2 74690035 74690035 + Frame_Shift_Del DEL G G - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr2:74690035delG ENST00000233616.4 - 4 1043 c.881delC c.(880-882)ctfs p.P294fs MOGS_ENST00000452063.2_Frame_Shift_Del_p.P188fs|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000535045.1_3'UTR NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 294 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 GTAGCGTTCAGGGGGGGCCCC 0.587 8 1137 --- --- --- --- MLTK 0 broad.mit.edu 37 2 174097115 174097117 + In_Frame_Del DEL GCT GCT - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr2:174097115_174097117delGCT ENST00000375213.3 + 14 1209_1211 c.1131_1133delGCT c.(1129-1134)cgg>cg p.RL377del MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_In_Frame_Del_p.RL377del NM_016653.2 NP_057737.2 CAGGGAAGCGGCTGCTGCTGCTG 0.433 9 1206 --- --- --- --- ALS2CR11 151254 broad.mit.edu 37 2 202352352 202352352 + Frame_Shift_Del DEL T T - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr2:202352352delT ENST00000439140.1 - 16 5490 c.5446delA c.(5446-5448)ttfs p.I1816fs ALS2CR11_ENST00000286195.3_Frame_Shift_Del_p.I619fs|ALS2CR11_ENST00000439802.1_3'UTR NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 619 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 CCTCTTTTAATTTTTTTTGGC 0.323 8 509 --- --- --- --- CYP20A1 57404 broad.mit.edu 37 2 204150380 204150380 + Frame_Shift_Del DEL A A - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr2:204150380delA ENST00000356079.4 + 9 1019 c.896delA c.(895-897)cafs p.Q299fs CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR NM_177538.2 NP_803882.1 Q6UW02 CP20A_HUMAN cytochrome P450, family 20, subfamily A, polypeptide 1 299 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 GAAGAAGTTCAAAAAAAATTA 0.348 7 468 --- --- --- --- HSPD1P6 0 broad.mit.edu 37 3 36810381 36810381 + RNA DEL T T - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr3:36810381delT ENST00000424886.1 - 0 405 GAGTGAGGCCttttttttttt 0.542 8 36 --- --- --- --- VEPH1 79674 broad.mit.edu 37 3 157081226 157081227 + Frame_Shift_Ins INS - - T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr3:157081226_157081227insT ENST00000362010.2 - 9 1968_1969 c.1661_1662insA c.(1660-1662)actfs p.T554fs RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.T554fs NM_001167912.1 NP_001161384.1 Q14D04 MELT_HUMAN ventricular zone expressed PH domain-containing 1 554 plasma membrane autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461) CTTTGCTGAGGTTTTTTTTTAA 0.396 22 970 --- --- --- --- RP11-3P17.4 0 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 17 110 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GAAgtggtgatggtggtggtggt 0.493 13 1124 --- --- --- --- NRROS 375387 broad.mit.edu 37 3 196387356 196387358 + In_Frame_Del DEL ACA ACA - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr3:196387356_196387358delACA ENST00000328557.4 + 3 1045_1047 c.842_844delACA c.(841-846)gac>g p.DN281del NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species CTGCTGCGCGACAACAACATGGG 0.616 17 608 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 946206 946207 + Frame_Shift_Del DEL TG TG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr4:946206_946207delTG ENST00000264771.4 + 7 615_616 c.430_431delTG c.(430-432)tfs p.C144fs TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000504180.1_3'UTR NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 144 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTTCTTGTTCTGTGTGTGTGTG 0.515 9 986 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19815895 19815895 + RNA DEL A A - rs145239076 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr4:19815895delA ENST00000511431.1 + 0 288 TCTGGGCTGTaaaaaaaaaaa 0.413 8 33 --- --- --- --- LIMCH1 22998 broad.mit.edu 37 4 41648508 41648509 + Frame_Shift_Del DEL GA GA - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr4:41648508_41648509delGA ENST00000313860.7 + 12 1317_1318 c.1263_1264delGA c.(1261-1266)cggafs p.RR421fs LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 421 actomyosin structure organization actin binding|zinc ion binding p.E810fs*3(1)|p.E425fs*3(1) central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 TTAGAGAGCGGAGAGAGAGAGA 0.465 12 578 --- --- --- --- GABRG1 2565 broad.mit.edu 37 4 46060358 46060358 + Frame_Shift_Del DEL A A - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr4:46060358delA ENST00000295452.4 - 7 959 c.792delT c.(790-792)ttfs p.F264fs NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 264 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.F264fs*3(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TGCTCAGGTCAAAAAAAATTG 0.294 8 333 --- --- --- --- C4orf26 152816 broad.mit.edu 37 4 76489680 76489680 + Frame_Shift_Del DEL A A - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr4:76489680delA ENST00000435974.2 + 3 486 c.468delA c.(466-468)gcfs p.A156fs C4orf26_ENST00000311623.4_3'UTR NM_001206981.1 NP_001193910.1 Q17RF5 CD026_HUMAN chromosome 4 open reading frame 26 0 extracellular region kidney(1)|large_intestine(4)|stomach(1) 6 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) ATACTGAAGCAAAAAAAAGCC 0.363 9 541 --- --- --- --- SEC31A 22872 broad.mit.edu 37 4 83745800 83745800 + Frame_Shift_Del DEL T T - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr4:83745800delT ENST00000432794.1 - 26 3521 c.3358delA c.(3358-3360)ttfs p.I1120fs SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I1138fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I1068fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000395310.2_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I1107fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I993fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I1053fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I954fs|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I1087fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I1092fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I856fs O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 1107 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) TTCTTGGTAATTTTTTTTGTT 0.388 8 337 --- --- --- --- HERC5 51191 broad.mit.edu 37 4 89381266 89381266 + Frame_Shift_Del DEL A A - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr4:89381266delA ENST00000264350.3 + 3 563 c.410delA c.(409-411)gafs p.E137fs HERC5_ENST00000508695.1_3'UTR NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 137 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) ATTTTACAAGAAAAAAAAATA 0.274 7 119 --- --- --- --- FGA 2243 broad.mit.edu 37 4 155505987 155505988 + Splice_Site INS - - A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr4:155505987_155505988insA ENST00000302053.3 - 6 1970 c.e6-2 NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CATCACAGTCTAAAAAAAAAAT 0.366 10 253 --- --- --- --- HMGB2 3148 broad.mit.edu 37 4 174253277 174253279 + In_Frame_Del DEL TCC TCC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr4:174253277_174253279delTCC ENST00000296503.5 - 5 1455_1457 c.582_584delGGA c.(580-585)gaa>ga p.EE196del HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000446922.2_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 11 509 --- --- --- --- SORBS2 8470 broad.mit.edu 37 4 186544620 186544622 + In_Frame_Del DEL GGT GGT - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr4:186544620_186544622delGGT ENST00000431808.1 - 14 2512_2514 c.1949_1951delACC c.(1948-1953)cgc>c p.HR650del SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000355634.5_In_Frame_Del_p.HR750del|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000284776.7_In_Frame_Del_p.HR650del|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_In_Frame_Del_p.HR554del|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 650 His-rich. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ATGAggtggcggtggtggtggtg 0.522 8 390 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32404160 32404161 + Frame_Shift_Ins INS - - T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr5:32404160_32404161insT ENST00000265069.8 - 7 1176_1177 c.1074_1075insA c.(1072-1077)aaaagcfs p.S359fs NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 359 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AATGCAGCTTCTTTTTTTTTAT 0.351 8 645 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 7 868 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 10 1230 --- --- --- --- FNIP1 96459 broad.mit.edu 37 5 131007940 131007941 + Frame_Shift_Ins INS - - T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr5:131007940_131007941insT ENST00000307968.7 - 13 2111_2112 c.2112_2113insA c.(2110-2115)aactccfs p.NS704fs FNIP1_ENST00000307954.8_Frame_Shift_Ins_p.NS687fs|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Frame_Shift_Ins_p.NS732fs NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TTATCTGGAGGTTTTTTTTCCA 0.441 9 925 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137801684 137801686 + In_Frame_Del DEL CAG CAG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr5:137801684_137801686delCAG ENST00000239938.4 + 1 506_508 c.234_236delCAG c.(232-237)aac>aa p.NS78del NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 78 Gly/Ser-rich. cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) gcggcagcaacagcagcagcagc 0.724 9 122 --- --- --- --- JAKMIP2 9832 broad.mit.edu 37 5 147011063 147011064 + Frame_Shift_Del DEL TC TC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr5:147011063_147011064delTC ENST00000265272.5 - 14 2254_2255 c.1787_1788delGA c.(1786-1788)afs p.R597fs JAKMIP2_ENST00000333010.6_Frame_Shift_Del_p.R555fs|JAKMIP2_ENST00000507386.1_Frame_Shift_Del_p.R576fs NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 597 Golgi apparatus p.E595fs*17(1) NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGGGATCGTCTCTCTCTCTC 0.371 7 193 --- --- --- --- ATXN1 6310 broad.mit.edu 37 6 16327900 16327901 + In_Frame_Ins INS - - TGC rs66949327 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr6:16327900_16327901insTGC ENST00000244769.4 - 8 1577_1578 c.641_642insGCA c.(640-642)cca>cGCAca p.214_214P>RT ATXN1_ENST00000436367.1_In_Frame_Ins_p.214_214P>RT NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 214 Poly-Gln. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) gctgctgctgctgctgctgatg 0.668 8 107 --- --- --- --- HIST1H2BM 8342 broad.mit.edu 37 6 27782855 27782855 + Frame_Shift_Del DEL A A - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr6:27782855delA ENST00000359465.4 + 1 34 c.34delA c.(34-36)aafs p.K13fs NM_003521.2 NP_003512.1 Q99879 H2B1M_HUMAN histone cluster 1, H2bm 13 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 12 TCCAGTCCCTAAAAAAGGCTC 0.433 8 643 --- --- --- --- ZKSCAN4 387032 broad.mit.edu 37 6 28212908 28212908 + Frame_Shift_Del DEL T T - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr6:28212908delT ENST00000377294.2 - 5 1867 c.1624delA c.(1624-1626)ctfs p.T542fs ZKSCAN4_ENST00000423974.2_Frame_Shift_Del_p.T387fs NM_019110.3 NP_061983.2 Q969J2 ZKSC4_HUMAN zinc finger with KRAB and SCAN domains 4 542 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 TGTGAAAGAGTTTTTTTCCCT 0.443 8 668 --- --- --- --- PPP1R18 170954 broad.mit.edu 37 6 30653494 30653496 + In_Frame_Del DEL TGC TGC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr6:30653494_30653496delTGC ENST00000274853.3 - 1 2176_2178 c.300_302delGCA c.(298-303)caa>ca p.QQ102del PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 102 Poly-Gln. cytoplasm|cytoskeleton actin binding p.Q100Q(1) CCGTtgttgttgctgctgctgct 0.650 10 407 --- --- --- --- SAPCD1-AS1 0 broad.mit.edu 37 6 31733215 31733215 + RNA DEL A A - rs35298161 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr6:31733215delA ENST00000419679.1 - 0 50 actacatctcaaaaaaaaaac 0.483 5 7 --- --- --- --- DAXX 1616 broad.mit.edu 37 6 33287898 33287900 + In_Frame_Del DEL TCC TCC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr6:33287898_33287900delTCC ENST00000374542.5 - 5 1557_1559 c.1353_1355delGGA c.(1351-1356)gaa>ga p.EE455del DAXX_ENST00000414083.2_In_Frame_Del_p.EE380del|DAXX_ENST00000266000.6_In_Frame_Del_p.EE455del|DAXX_ENST00000477162.1_5'UTR NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 455 Asp/Glu-rich (acidic).|Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding p.E451E(2) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 ctcttcttcttcctcctcctcct 0.552 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 9 287 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33411201 33411203 + In_Frame_Del DEL CAC CAC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda 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_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del 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 9 954 --- --- --- --- TREML2 79865 broad.mit.edu 37 6 41168714 41168716 + In_Frame_Del DEL CAG CAG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr6:41168714_41168716delCAG ENST00000483722.1 - 1 216_218 c.31_33delCTG c.(31-33)del p.L11del NM_024807.2 NP_079083.2 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid cells-like 2 11 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTGTGGCCACAGCAGCAGCAGC 0.631 10 185 --- --- --- --- PHIP 55023 broad.mit.edu 37 6 79655961 79655961 + Frame_Shift_Del DEL T T - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr6:79655961delT ENST00000275034.4 - 38 4554 c.4387delA c.(4387-4389)ggfs p.R1463fs PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1463 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TTTAAGATCCTTTTTTTCCTT 0.358 10 675 --- --- --- --- WISP3 8838 broad.mit.edu 37 6 112389434 112389434 + Frame_Shift_Del DEL A A - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr6:112389434delA ENST00000361714.1 + 4 715 c.670delA c.(670-672)aafs p.K226fs WISP3_ENST00000230529.5_Frame_Shift_Del_p.K208fs|WISP3_ENST00000604763.1_Frame_Shift_Del_p.K208fs|WISP3_ENST00000368663.3_Frame_Shift_Del_p.K185fs|WISP3_ENST00000368666.2_Frame_Shift_Del_p.K208fs|WISP3_ENST00000409166.1_5'UTR O95389 WISP3_HUMAN WNT1 inducible signaling pathway protein 3 208 TSP type-1. cell-cell signaling|regulation of cell growth|signal transduction extracellular region|soluble fraction growth factor activity|insulin-like growth factor binding breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 13 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) ACTTATTTGGAAAAAAAAATG 0.333 7 215 --- --- --- --- EPB41L2 2037 broad.mit.edu 37 6 131191073 131191075 + In_Frame_Del DEL CTG CTG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr6:131191073_131191075delCTG ENST00000337057.3 - 15 2416_2418 c.2235_2237delCAG c.(2233-2238)agt>ag p.SS745del EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del 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 8 484 --- --- --- --- OLIG3 167826 broad.mit.edu 37 6 137815210 137815212 + In_Frame_Del DEL TGG TGG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr6:137815210_137815212delTGG ENST00000367734.2 - 1 319_321 c.96_98delCCA c.(94-99)cag>ca p.HQ32del NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 32 Poly-His. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Q33K(1) endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) ACGGCTCTCCtggtggtggtggt 0.596 7 458 --- --- --- --- GLCCI1 113263 broad.mit.edu 37 7 8126097 8126099 + In_Frame_Del DEL CAG CAG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr7:8126097_8126099delCAG ENST00000223145.5 + 8 2130_2132 c.1573_1575delCAG c.(1573-1575)del p.Q528del NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 528 Poly-Gln. endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) GCAGCCATCCCAGCAGCAGCAGC 0.562 8 1470 --- --- --- --- BBS9 27241 broad.mit.edu 37 7 33312723 33312723 + Frame_Shift_Del DEL T T - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr7:33312723delT ENST00000242067.6 + 8 1323 c.802delT c.(802-804)ttfs p.F269fs BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 269 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGAGAGAAACTTTTTTTGCCT 0.393 Bardet-Biedl syndrome 7 855 --- --- --- --- TRGC1 0 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 11 614 --- --- --- --- POU6F2 11281 broad.mit.edu 37 7 39379288 39379290 + In_Frame_Del DEL CAG CAG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr7:39379288_39379290delCAG ENST00000518318.2 + 5 601_603 c.559_561delCAG c.(559-561)del p.Q196del POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR P78424 PO6F2_HUMAN POU class 6 homeobox 2 196 Gln-rich. Q -> QQ (in Ref. 1; AAB49727/AAB49728). central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 gctccagctccagcagcagcagc 0.616 7 135 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150713 65150714 + RNA INS - - A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr7:65150713_65150714insA ENST00000430126.2 + 0 694_695 CATACCATGAGAAAATCTCTAA 0.436 7 134 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65222951 65222951 + RNA DEL T T - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr7:65222951delT ENST00000442266.1 + 0 561 TTTCTGTAACTTTTTTTTTTT 0.323 9 65 --- --- --- --- MEPCE 56257 broad.mit.edu 37 7 100028823 100028825 + In_Frame_Del DEL CCA CCA - rs71555278 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr7:100028823_100028825delCCA ENST00000310512.2 + 1 1570_1572 c.1182_1184delCCA c.(1180-1185)cgc>cg p.RH394del MEPCE_ENST00000414441.1_5'UTR NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 394 methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGGAGGCCGCCACCACCACCAC 0.581 7 377 --- --- --- --- TRBV7-3 0 broad.mit.edu 37 7 142247456 142247457 + RNA DEL CA CA - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr7:142247456_142247457delCA ENST00000390361.3 - 0 99 TTGTACTCATcacacacacaca 0.545 19 573 --- --- --- --- ANGPT2 285 broad.mit.edu 37 8 6378797 6378798 + Frame_Shift_Ins INS - - T rs34047276 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr8:6378797_6378798insT ENST00000325203.5 - 4 1174_1175 c.700_701insA c.(700-702)agtfs p.S234fs ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.S234fs|ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.S234fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.S182fs O15123 ANGP2_HUMAN angiopoietin 2 234 angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) GGCAGTCACTATTTTTTTTTCT 0.366 8 520 --- --- --- --- C8orf59 401466 broad.mit.edu 37 8 86129664 86129664 + Frame_Shift_Del DEL T T - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr8:86129664delT ENST00000417663.2 - 2 136 c.65delA c.(64-66)acfs p.N22fs C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1 NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1 Q8N0T1 CH059_HUMAN chromosome 8 open reading frame 59 22 AGCCTTAAAGTTTTTTTGGCT 0.343 7 601 --- --- --- --- TP53INP1 0 broad.mit.edu 37 8 95952409 95952411 + In_Frame_Del DEL TCT TCT - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr8:95952409_95952411delTCT ENST00000342697.4 - 3 557_559 c.150_152delAGA c.(148-153)gag>ga p.EE50del TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 50 Glu-rich. apoptosis PML body p.E50E(1) kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) GATGTCCTCCTCTTCTTCTTCTT 0.458 8 296 --- --- --- --- TMC1 117531 broad.mit.edu 37 9 75263574 75263574 + Frame_Shift_Del DEL A A - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr9:75263574delA ENST00000297784.5 + 5 550 c.10delA c.(10-12)aafs p.K5fs TMC1_ENST00000340019.3_Frame_Shift_Del_p.K5fs|TMC1_ENST00000396237.3_Frame_Shift_Del_p.K5fs NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 5 Arg/Asp/Glu/Lys-rich (highly charged). sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 GATGTCACCCAAAAAAGGTAT 0.398 9 756 --- --- --- --- PCSK5 5125 broad.mit.edu 37 9 78973707 78973709 + In_Frame_Del DEL GAT GAT - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr9:78973707_78973709delGAT ENST00000545128.1 + 37 5990_5992 c.5452_5454delGAT c.(5452-5454)del p.D1822del NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 639 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CTATGATGAGGATGATGATGATG 0.468 7 850 --- --- --- --- RP11-276H19.2 0 broad.mit.edu 37 9 89628123 89628124 + RNA INS - - A rs35998235 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr9:89628123_89628124insA ENST00000602579.1 - 0 256 NR_027471.1 ATGTCTCCCTTCAAAAAAAAAA 0.366 7 74 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61828727 61828729 + In_Frame_Del DEL GTG GTG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr10:61828727_61828729delGTG ENST00000280772.1 - 37 12101_12103 c.11910_11912delCAC c.(11908-11913)act>ac p.TT3976del ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3976 Thr-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 agtggtggtagtggtggtggtgg 0.468 15 653 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61831289 61831290 + Frame_Shift_Ins INS - - T rs28932171 byFrequency TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr10:61831289_61831290insT ENST00000280772.1 - 37 9540_9541 c.9349_9350insA c.(9349-9351)catfs p.H3117fs ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3117 I -> V (in dbSNP:rs28932171). establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTGACTTATGATTTTTTTTACA 0.401 7 951 --- --- --- --- PRF1 5551 broad.mit.edu 37 10 72358049 72358049 + Frame_Shift_Del DEL C C - rs145695221 byFrequency TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr10:72358049delC ENST00000441259.1 - 3 1588 c.1428delG c.(1426-1428)ggfs p.G476fs PRF1_ENST00000373209.2_Frame_Shift_Del_p.G476fs NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 476 C2. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 ACCTCAGGGGCCCCCCTGTGG 0.602 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 7 546 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 13 938 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr10:81072446delC ENST00000334512.5 + 25 3716 c.3144delC c.(3142-3144)gafs p.D1048fs ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1048 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTTATCTGGACCCCCCCGACC 0.557 7 1425 --- --- --- --- TLL2 7093 broad.mit.edu 37 10 98273378 98273379 + Frame_Shift_Ins INS - - CG TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr10:98273378_98273379insCG ENST00000357947.3 - 1 289_290 c.64_65insCG c.(64-66)cgcfs p.R22fs TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 22 cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) TCCCCCGGCGCCGCGAGGCAGC 0.728 9 108 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr10:102763415_102763417delCCT ENST00000370220.1 + 2 3623_3625 c.560_562delCCT c.(559-564)gcc>g p.AS187del LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 187 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGGGGCCCTGcctcctcctcctc 0.650 11 1050 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 16 870 --- --- --- --- CPXM2 119587 broad.mit.edu 37 10 125528165 125528167 + In_Frame_Del DEL CAG CAG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr10:125528165_125528167delCAG ENST00000241305.3 - 9 1328_1330 c.1174_1176delCTG c.(1174-1176)del p.L392del CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 392 Poly-Leu. cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CGAACTGCACCAGCAGCAGCAGC 0.626 12 861 --- --- --- --- TSPAN4 0 broad.mit.edu 37 11 864443 864445 + In_Frame_Del DEL CTG CTG - rs61867552 byFrequency TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr11:864443_864445delCTG ENST00000397404.1 + 5 521_523 c.262_264delCTG c.(262-264)del p.L92del TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) ACAGTTCTTCCTGCTGCTGCTGC 0.650 14 547 --- --- --- --- MYRF 745 broad.mit.edu 37 11 61539013 61539013 + Frame_Shift_Del DEL C C - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr11:61539013delC ENST00000278836.5 + 6 878 c.782delC c.(781-783)tcfs p.S261fs TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Frame_Shift_Del_p.S252fs NM_001127392.1 NP_001120864.1 myelin regulatory factor p.S255fs*74(1) CACTCTGAATCCCCCCCCAGC 0.637 7 767 --- --- --- --- SLC3A2 6520 broad.mit.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr11:62649529delA ENST00000377892.1 + 6 1209 c.985delA c.(985-987)aafs p.K331fs SLC3A2_ENST00000377889.2_Frame_Shift_Del_p.K238fs|SLC3A2_ENST00000377891.2_Frame_Shift_Del_p.K301fs|SLC3A2_ENST00000338663.7_Frame_Shift_Del_p.K199fs|SLC3A2_ENST00000377890.2_Frame_Shift_Del_p.K300fs|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000535296.1_Frame_Shift_Del_p.K269fs P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 300 blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding p.K331fs*31(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 GCAATCGGCTAAAAAAAAGAG 0.463 7 379 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89407177 89407177 + RNA DEL C C - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr11:89407177delC ENST00000532352.1 + 0 1114 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TTTTTTTTTTCCCCAATCTGG 0.303 8 180 --- --- --- --- CBL 867 broad.mit.edu 37 11 119149356 119149358 + In_Frame_Del DEL ATG ATG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr11:119149356_119149358delATG ENST00000264033.4 + 9 1740_1742 c.1364_1366delATG c.(1363-1368)tat>t p.YD455del NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 455 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TCCCCAAATTATGATGATGATGA 0.473 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 9 330 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711207 6711209 + In_Frame_Del DEL CTT CTT - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda 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_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del 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 9 235 --- --- --- --- FOXJ2 55810 broad.mit.edu 37 12 8200558 8200560 + In_Frame_Del DEL CAG CAG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr12:8200558_8200560delCAG ENST00000162391.3 + 7 2043_2045 c.898_900delCAG c.(898-900)del p.Q306del FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del NM_018416.2 NP_060886.1 Q9P0K8 FOXJ2_HUMAN forkhead box J2 306 Poly-Gln. embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 16 Kidney(36;0.0944) gccacctcaacagcagcagcagc 0.640 14 291 --- --- --- --- OR6C75 390323 broad.mit.edu 37 12 55759192 55759192 + Frame_Shift_Del DEL T T - rs75456529 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr12:55759192delT ENST00000343399.3 + 1 298 c.298delT c.(298-300)ttfs p.F102fs NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGCTCAGCTATTTTTTTTCAT 0.438 9 690 --- --- --- --- TMBIM4 51643 broad.mit.edu 37 12 66531936 66531937 + Frame_Shift_Ins INS - - A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr12:66531936_66531937insA ENST00000358230.3 - 7 640_641 c.520_521insT c.(520-522)tagfs p.*174fs TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs NM_016056.2 NP_057140.2 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 174 integral to membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) TATCTCACTATAAAAAAAAAAC 0.351 10 232 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72057256 72057258 + In_Frame_Del DEL GCT GCT - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr12:72057256_72057258delGCT ENST00000378743.3 - 1 491_493 c.133_135delAGC c.(133-135)del p.S45del ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 45 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCCCGCCGCCGCTGCTGCTGCTG 0.631 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 801 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812693 122812694 + Frame_Shift_Ins INS - - T rs77289752 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr12:122812693_122812694insT ENST00000358808.2 - 16 3170_3171 c.3016_3017insA c.(3016-3018)aagfs p.K1006fs CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.K895fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.K1006fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.K592fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.K1017fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.K971fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1017 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) GTTGTGGCTTGTTTCCATTTTC 0.505 7 913 --- --- --- --- SNRNP35 11066 broad.mit.edu 37 12 123950525 123950525 + Frame_Shift_Del DEL A A - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr12:123950525delA ENST00000526639.2 + 2 1017 c.438delA c.(436-438)ggfs p.G146fs SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000412157.2_Frame_Shift_Del_p.G151fs|SNRNP35_ENST00000350887.5_Frame_Shift_Del_p.G146fs NM_022717.2 NP_073208.1 Q16560 U1SBP_HUMAN small nuclear ribonucleoprotein 35kDa (U11/U12) 146 mRNA processing U12-type spliceosomal complex nucleotide binding|RNA binding NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 GTCTTGGGGGAAAAAAGGAGT 0.502 7 508 --- --- --- --- ZIC2 7546 broad.mit.edu 37 13 100635045 100635045 + Frame_Shift_Del DEL T T - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr13:100635045delT ENST00000376335.3 + 1 1020 c.727delT c.(727-729)ttfs p.F244fs NM_007129.3 NP_009060.2 O95409 ZIC2_HUMAN Zic family member 2 244 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity). brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ccCCGGTGCCTTTTTCCGCTA 0.562 7 444 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086382 20086383 + RNA INS - - AAAA TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr14:20086382_20086383insAAAA ENST00000548261.1 + 0 135 TCTTACAAGGTAAAAAAAATGA 0.312 9 87 --- --- --- --- CHD8 57680 broad.mit.edu 37 14 21884031 21884031 + Frame_Shift_Del DEL T T - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr14:21884031delT ENST00000399982.2 - 5 1816 c.1752delA c.(1750-1752)aafs p.K584fs CHD8_ENST00000555962.1_Intron|CHD8_ENST00000557364.1_Frame_Shift_Del_p.K584fs|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 584 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CCTCTGTATATTTTTTTCGCT 0.398 7 809 --- --- --- --- OTX2-AS1 0 broad.mit.edu 37 14 57509058 57509064 + RNA DEL TCCAAGC TCCAAGC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr14:57509058_57509064delTCCAAGC ENST00000554725.1 + 0 344 CCAGAAGCCTTCCAAGCTCCAAGCCCT 0.483 12 50 --- --- --- --- SYNE2 23224 broad.mit.edu 37 14 64486773 64486773 + Frame_Shift_Del DEL T T - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr14:64486773delT ENST00000358025.3 + 35 5343 c.5113delT c.(5113-5115)ttfs p.F1705fs SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Frame_Shift_Del_p.F1705fs|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.F1705fs NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1705 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TGAAATACAGTTTTTGCTCCA 0.303 7 395 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 15 192 --- --- --- --- MLH3 27030 broad.mit.edu 37 14 75514603 75514604 + Frame_Shift_Ins INS - - T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr14:75514603_75514604insT ENST00000355774.2 - 2 1970_1971 c.1755_1756insA c.(1753-1758)aaaatcfs p.I586fs MLH3_ENST00000556257.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000556740.1_Frame_Shift_Ins_p.I586fs NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 586 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TTGCTAGATTCTTTTTTTTTCT 0.356 Mismatch excision repair (MMR) 9 595 --- --- --- --- NIPA2 81614 broad.mit.edu 37 15 23021239 23021239 + Frame_Shift_Del DEL T T - rs145147241 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr15:23021239delT ENST00000337451.3 - 4 710 c.98delA c.(97-99)agfs p.K33fs NIPA2_ENST00000359727.4_Frame_Shift_Del_p.K33fs|NIPA2_ENST00000398014.2_Frame_Shift_Del_p.K33fs|NIPA2_ENST00000539711.2_Frame_Shift_Del_p.K33fs|NIPA2_ENST00000398013.3_Frame_Shift_Del_p.K33fs NM_030922.6 NP_112184.4 Q8N8Q9 NIPA2_HUMAN non imprinted in Prader-Willi/Angelman syndrome 2 33 early endosome|integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353) AAGGAGGCCCTTTTTTTTCAA 0.448 8 560 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974509 93974510 + RNA DEL TC TC - rs57286078 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr15:93974509_93974510delTC ENST00000543286.1 + 0 545 TTGGCTGGGTTCtttttttttt 0.431 7 164 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1824298 1824300 + In_Frame_Del DEL TGC TGC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr16:1824298_1824300delTGC ENST00000307394.7 + 3 422_424 c.422_424delTGC c.(421-426)ttg>t p.LL143del EME2_ENST00000568449.1_In_Frame_Del_p.LL143del A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 143 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 GAACAGGAATTGCTGCTGCTGCT 0.655 Direct reversal of damage;Homologous recombination 7 480 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 42 1235 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4910691 4910693 + In_Frame_Del DEL AGA AGA - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr16:4910691_4910693delAGA ENST00000396658.4 + 6 1401_1403 c.698_700delAGA c.(697-702)gag>g p.EK233del UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 233 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.K234E(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GCCAGTAAGGAGAAGAAGAAGAA 0.453 14 1307 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29113497 29113498 + RNA INS - - T rs11366120 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr16:29113497_29113498insT ENST00000564580.1 + 0 1360 GAGGAGGTGGAttttttttttc 0.545 7 270 --- --- --- --- SALL1 6299 broad.mit.edu 37 16 51175656 51175658 + In_Frame_Del DEL GCT GCT - rs13336129 byFrequency TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr16:51175656_51175658delGCT ENST00000440970.1 - 2 615_617 c.184_186delAGC c.(184-186)del p.S62del SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 159 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S159G(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) cgccgccgccgctgctgctgctg 0.631 24 288 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr16:69726420_69726422delCAG ENST00000349945.1 + 14 3962_3964 c.2410_2412delCAG c.(2410-2412)del p.Q812del NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 888 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q804Q(1)|p.Q898Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ATCTAATcaacagcagcagcagc 0.473 8 353 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72822564 72822566 + In_Frame_Del DEL TGC TGC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr16:72822564_72822566delTGC ENST00000268489.5 - 10 10281_10283 c.9609_9611delGCA c.(9607-9612)caa>ca p.QQ3203del ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2289del NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3203 Poly-Gln. 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) cacctgtggttgctgctgctgct 0.650 17 813 --- --- --- --- CA5A 763 broad.mit.edu 37 16 87936054 87936055 + Frame_Shift_Del DEL CC CC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr16:87936054_87936055delCC ENST00000309893.2 - 4 596_597 c.531_532delGG c.(529-534)ttctfs p.LA177fs NM_001739.1 NP_001730.1 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial 177 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(80;0.0513) CCTATCACAGCCAAACCATTCT 0.376 8 424 --- --- --- --- AC005863.1 0 broad.mit.edu 37 17 14673542 14673543 + RNA INS - - T TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr17:14673542_14673543insT ENST00000379640.1 - 0 354_355 GCTGGTCCCAGTTTTTTTTTCT 0.450 8 215 --- --- --- --- SUZ12P 0 broad.mit.edu 37 17 29096087 29096087 + RNA DEL T T - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr17:29096087delT ENST00000582557.1 + 0 1381 ATATTGGTAATTTTTTTTTTT 0.343 8 119 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56387404 56387406 + In_Frame_Del DEL TCC TCC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr17:56387404_56387406delTCC ENST00000355701.3 - 21 4683_4685 c.3813_3815delGGA c.(3811-3816)gaa>ga p.EE1273del BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del|BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1273 Poly-Glu. mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGctcctcttcctcctcctcct 0.586 9 371 --- --- --- --- TBC1D3P2 0 broad.mit.edu 37 17 60347260 60347260 + RNA DEL T T - rs71816198 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr17:60347260delT ENST00000581291.1 - 0 581 breast(2)|kidney(1)|lung(2) 5 CTCTGAATGATTTTTTTTTTT 0.448 10 15 --- --- --- --- ACE 1636 broad.mit.edu 37 17 61560495 61560495 + Frame_Shift_Del DEL C C - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr17:61560495delC ENST00000290866.4 + 9 1472 c.1448delC c.(1447-1449)acfs p.T483fs ACE_ENST00000584529.1_Intron|ACE_ENST00000428043.1_Frame_Shift_Del_p.T483fs|ACE_ENST00000538928.1_Intron NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 483 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) AGTGGGCGTACCCCCCCTTCC 0.562 7 1268 --- --- --- --- CDC42EP4 23580 broad.mit.edu 37 17 71281585 71281587 + In_Frame_Del DEL TCC TCC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr17:71281585_71281587delTCC ENST00000335793.3 - 2 1447_1449 c.1053_1055delGGA c.(1051-1056)gat>ga p.ED351del CDC42EP4_ENST00000581014.1_3'UTR|CDC42EP4_ENST00000439510.2_In_Frame_Del_p.ED281del Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 351 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) ACGGATTTCATCCTCCTCCTCCT 0.640 7 557 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112482 112482 + RNA DEL C C - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr18:112482delC ENST00000576266.1 + 0 116 AGGGGTGCTTCCAGCGAGGCG 0.622 10 122 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs|HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 9 861 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 7 886 --- --- --- --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC AGC - rs141441894 byFrequency TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr19:43969653_43969655delAGC ENST00000244333.3 - 1 157_159 c.69_71delGCT c.(67-72)ctt>ct p.LL23del NM_014400.2 NP_055215.2 O95274 LYPD3_HUMAN LY6/PLAUR domain containing 3 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 20 745 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del|RSPH6A_ENST00000597055.1_3'UTR NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 15 694 --- --- --- --- RP4-777D9.2 0 broad.mit.edu 37 20 21146788 21146789 + RNA INS - - T rs34056823 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr20:21146788_21146789insT ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA tgtattttGTATTTTTTTTTTT 0.401 15 90 --- --- --- --- MIR3648 0 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 6 1 --- --- --- --- APP 351 broad.mit.edu 37 21 27394182 27394184 + In_Frame_Del DEL GTG GTG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr21:27394182_27394184delGTG ENST00000358918.3 - 6 1036_1038 c.837_839delCAC c.(835-840)aca>ac p.TT279del APP_ENST00000346798.3_In_Frame_Del_p.TT279del|APP_ENST00000439274.2_In_Frame_Del_p.TT223del|APP_ENST00000357903.3_In_Frame_Del_p.TT279del|APP_ENST00000448388.2_In_Frame_Del_p.TT244del|APP_ENST00000348990.5_In_Frame_Del_p.TT279del|APP_ENST00000354192.3_In_Frame_Del_p.TT223del|APP_ENST00000440126.3_In_Frame_Del_p.TT274del|APP_ENST00000359726.3_In_Frame_Del_p.TT279del|APP_ENST00000474136.1_5'UTR 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 9 172 --- --- --- --- HMGXB4 10042 broad.mit.edu 37 22 35661575 35661576 + Frame_Shift_Del DEL AG AG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr22:35661575_35661576delAG ENST00000216106.5 + 5 1322_1323 c.1194_1195delAG c.(1192-1197)aaagfs p.KE398fs HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.KE289fs NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 398 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 agaaggacaaagagagagagag 0.465 7 112 --- --- --- --- MKL1 57591 broad.mit.edu 37 22 40816887 40816889 + In_Frame_Del DEL TGC TGC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr22:40816887_40816889delTGC ENST00000396617.3 - 10 1433_1435 c.843_845delGCA c.(841-846)cac>ca p.QH281del MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000407029.1_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 7 250 --- --- --- --- RANGAP1 5905 broad.mit.edu 37 22 41650469 41650471 + In_Frame_Del DEL TCC TCC - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr22:41650469_41650471delTCC ENST00000455915.2 - 10 2570_2572 c.1101_1103delGGA c.(1099-1104)gaa>ga p.EE367del RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del|RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del P46060 RAGP1_HUMAN Ran GTPase activating protein 1 367 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ctcttctccttcctcctcctcct 0.562 27 571 --- --- --- --- ZC3H7B 23264 broad.mit.edu 37 22 41753399 41753401 + In_Frame_Del DEL CTG CTG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr22:41753399_41753401delCTG ENST00000352645.4 + 23 3157_3159 c.2900_2902delCTG c.(2899-2904)cct>c p.PA967del ZC3H7B_ENST00000351589.4_In_Frame_Del_p.PA967del NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 983 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CCAGAAGCCCCTGCTGCTGCTGC 0.650 8 846 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42605990 42605992 + In_Frame_Del DEL CTG CTG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr22:42605990_42605992delCTG ENST00000359486.3 - 1 5456_5458 c.5320_5322delCAG c.(5320-5322)del p.Q1774del TCF20_ENST00000404876.1_In_Frame_Del_p.Q75del|TCF20_ENST00000335626.4_In_Frame_Del_p.Q1774del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1774 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 TCTGCTCCTTCTGCTGCTGCTGC 0.601 10 563 --- --- --- --- SERHL 94009 broad.mit.edu 37 22 42905033 42905037 + RNA DEL GGCAG GGCAG - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chr22:42905033_42905037delGGCAG ENST00000359906.2 + 0 614_618 NR_027786.1 serine hydrolase-like endometrium(1)|large_intestine(1) 2 TGTCTCTGCAGGCAGAGAACAGCAT 0.561 13 181 --- --- --- --- ASB11 0 broad.mit.edu 37 X 15333659 15333660 + Frame_Shift_Ins INS - - A TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda 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 8 549 --- --- --- --- RAI2 10742 broad.mit.edu 37 X 17818550 17818550 + Frame_Shift_Del DEL A A - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chrX:17818550delA ENST00000545871.1 - 3 2041 c.1581delT c.(1579-1581)ttfs p.F527fs RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 527 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) ACTTTCTTGGAAAAAAGGTGG 0.333 7 2264 --- --- --- --- GUCY2F 2986 broad.mit.edu 37 X 108619355 108619355 + Frame_Shift_Del DEL T T - TCGA-IB-7885-01A-11D-2154-08 TCGA-IB-7885-10A-01D-2154-08 Untested Somatic Phase_I WXS none Illumina GAIIx adfbadb2-fb88-49d5-84ea-5197b9c77c06 e89b13a9-1fd5-46a7-96f1-c0b8b932ddda g.chrX:108619355delT ENST00000218006.2 - 18 3483 c.3192delA c.(3190-3192)aafs p.K1064fs NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 1064 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TCATGAAGCCTTTTTTCCCAA 0.418 11 1056 --- --- --- ---