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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 7 623 0 0 1 0 0 STXBP5 0 broad.mit.edu 37 6 147684586 147684586 + Silent SNP A A G TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr6:147684586A>G ENST00000367481.3 + 22 2661 c.2553A>G c.(2551-2553)aaA>aaG p.K851K STXBP5_ENST00000321680.6_Silent_p.K887K|STXBP5_ENST00000179882.6_Silent_p.K542K|STXBP5_ENST00000367480.3_Silent_p.K834K NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 887 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) CTGAAGAAAAAGACGAAAAGG 0.433000 4 260 0 0 1 0 0 MSH6 2956 broad.mit.edu 37 2 48010515 48010515 + Missense_Mutation SNP C C T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr2:48010515C>T ENST00000234420.4 + 1 295 c.143C>T c.(142-144)gCg>gTg p.A48V MSH6_ENST00000540021.1_Missense_Mutation_p.A48V NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 48 AAPGASPSPGGDAAWSEAGPGP -> GCPRGLSFPRRGCGL ERGWAWA (in Ref. 2; BAA23674/BAA23675). determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GGCGGGGATGCGGCCTGGAGC 0.746000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 4 106 0 0 1 0 0 BACE2 25825 broad.mit.edu 37 21 42613839 42613839 + Missense_Mutation SNP C C T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr21:42613839C>T ENST00000330333.6 + 4 1175 c.712C>T c.(712-714)Ccc>Tcc p.P238S BACE2_ENST00000328735.6_Missense_Mutation_p.P238S|BACE2_ENST00000347667.4_Missense_Mutation_p.P238S|BACE2_ENST00000466122.1_3'UTR NM_012105.3 NP_036237.2 Q9Y5Z0 BACE2_HUMAN beta-site APP-cleaving enzyme 2 238 membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) AGCCGGCTTGCCCGTTGCTGG 0.502000 7 760 0 0 1 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84906612 84906612 + Silent SNP C C T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr16:84906612C>T ENST00000262424.5 + 10 1220 c.996C>T c.(994-996)tgC>tgT p.C332C CRISPLD2_ENST00000567845.1_Silent_p.C331C|CRISPLD2_ENST00000564567.1_Silent_p.C332C NM_031476.3 NP_113664.1 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain containing 2 332 LCCL 1. extracellular region|transport vesicle p.C332C(1) endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 CTAGCATATGCCGCGCCGCCA 0.542000 6 462 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 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 5 151 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 5 155 0 0 1 0 0 SLC12A2 6558 broad.mit.edu 37 5 127448571 127448571 + Silent SNP G G A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr5:127448571G>A ENST00000262461.2 + 2 1011 c.822G>A c.(820-822)acG>acA p.T274T SLC12A2_ENST00000343225.4_Silent_p.T274T NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 274 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) CTGTGGTCACGTATACTGCAG 0.368000 5 440 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccaccgccgc 0.706000 5 178 0 0 1 0 0 SHMT1 6470 broad.mit.edu 37 17 18243536 18243536 + Missense_Mutation SNP G G A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr17:18243536G>A ENST00000316694.3 - 7 769 c.635C>T c.(634-636)gCc>gTc p.A212V SHMT1_ENST00000354098.3_Missense_Mutation_p.A212V|SHMT1_ENST00000352886.6_Missense_Mutation_p.A212V|SHMT1_ENST00000539052.1_Missense_Mutation_p.A74V NM_004169.3 NP_004160.3 P34896 GLYC_HUMAN serine hydroxymethyltransferase 1 (soluble) 212 carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process cytosol|nucleus glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1) 13 Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CCGTAGCCGGGCATATTCCAG 0.587000 5 345 0 0 1 0 0 DUSP26 78986 broad.mit.edu 37 8 33454858 33454858 + Missense_Mutation SNP C C A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr8:33454858C>A ENST00000256261.4 - 2 693 c.176G>T c.(175-177)tGt>tTt p.C59F DUSP26_ENST00000523956.1_Missense_Mutation_p.C59F NM_024025.1 NP_076930.1 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 (putative) 59 Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) GGCATGGTTACAGGCTGTCTT 0.562000 4 107 1.23904e-05 1.38604e-05 1 1 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 7 366 0 0 1 0 0 SLC35B2 347734 broad.mit.edu 37 6 44223293 44223293 + Missense_Mutation SNP G G A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr6:44223293G>A ENST00000393812.3 - 4 592 c.449C>T c.(448-450)aCg>aTg p.T150M SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000537814.1_Missense_Mutation_p.T17M|SLC35B2_ENST00000538577.1_Missense_Mutation_p.T57M|SLC35B2_ENST00000495706.1_5'UTR NM_178148.2 NP_835361.1 Q8TB61 S35B2_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 150 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTGCGAGTCCGTAAAGCGCTC 0.592000 5 317 0 0 1 0 0 AKT3 10000 broad.mit.edu 37 1 243736307 243736307 + Missense_Mutation SNP C C T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr1:243736307C>T ENST00000366539.1 - 9 940 c.740G>A c.(739-741)cGc>cAc p.R247H AKT3_ENST00000263826.5_Missense_Mutation_p.R247H|AKT3_ENST00000366540.1_Missense_Mutation_p.R247H|AKT3_ENST00000336199.5_Missense_Mutation_p.R247H Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 247 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) GAAACGTGTGCGGTCCTCAGA 0.418000 4 284 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100680623 100680623 + Missense_Mutation SNP C C T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr7:100680623C>T ENST00000306151.4 + 3 5990 c.5926C>T c.(5926-5928)Cca>Tca p.P1976S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1976 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACCAGCATGCCAACCCCAGC 0.498000 8 1311 0 0 1 0 0 HSPE1 3336 broad.mit.edu 37 2 198367975 198367975 + Missense_Mutation SNP G G A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr2:198367975G>A ENST00000233893.5 + 4 744 c.301G>A c.(301-303)Gta>Ata p.V101I HSPE1_ENST00000465573.1_3'UTR|HSPE1_ENST00000409468.1_3'UTR|HSPE1_ENST00000409729.1_Missense_Mutation_p.V46I|MOB4_ENST00000604458.1_Intron NM_002157.2 NP_002148.1 heat shock 10kDa protein 1 lung(1) 1 Epithelial(96;0.225) TGGAAAGTACGTAGACTGAAA 0.328000 7 448 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23911703 23911703 + Silent SNP C C T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr13:23911703C>T ENST00000382298.3 - 10 6900 c.6312G>A c.(6310-6312)ggG>ggA p.G2104G SACS_ENST00000402364.1_Silent_p.G1354G|SACS_ENST00000382292.3_Silent_p.G2104G NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 2104 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CCAAAGGATGCCCCTCCAAGG 0.403000 4 260 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33955010 33955010 + Missense_Mutation SNP C C T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr15:33955010C>T ENST00000389232.4 + 35 5349 c.5279C>T c.(5278-5280)gCg>gTg p.A1760V RYR3_ENST00000415757.3_Missense_Mutation_p.A1760V NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1760 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GAGCATAGTGCGGGGACAGAG 0.567000 5 289 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 7 48 0 0 1 0 0 NPNT 255743 broad.mit.edu 37 4 106859478 106859478 + Missense_Mutation SNP G G A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr4:106859478G>A ENST00000379987.2 + 5 622 c.406G>A c.(406-408)Gca>Aca p.A136T NPNT_ENST00000514622.1_Missense_Mutation_p.A136T|NPNT_ENST00000506666.1_Missense_Mutation_p.A166T|NPNT_ENST00000305572.8_Missense_Mutation_p.A136T|NPNT_ENST00000453617.2_Missense_Mutation_p.A153T|NPNT_ENST00000427316.2_Missense_Mutation_p.A166T NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 136 EGF-like 3. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) CTGCTCCATGGCAAACTGTCA 0.498000 4 262 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61828729 61828729 + Silent SNP G G A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr10:61828729G>A ENST00000280772.1 - 37 12101 c.11910C>T c.(11908-11910)acC>acT p.T3970T ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3970 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 tggtggtagtggtggtggtgg 0.468000 5 433 0 0 1 0 0 UGT2B17 7367 broad.mit.edu 37 4 69403349 69403349 + Silent SNP C C T rs146629248 byFrequency TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr4:69403349C>T ENST00000317746.2 - 6 1629 c.1587G>A c.(1585-1587)agG>agA p.R529R NM_001077.3 NP_001068.1 O75795 UDB17_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B17 529 steroid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.R529R(2) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1) 30 ATAACTAATCCCTTTTCTTCT 0.408000 6 591 0 0 1 0 0 PRICKLE2 166336 broad.mit.edu 37 3 64085080 64085080 + Missense_Mutation SNP G G A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr3:64085080G>A ENST00000295902.6 - 8 2767 c.2182C>T c.(2182-2184)Cgc>Tgc p.R728C PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R784C NM_198859.3 NP_942559.1 Q7Z3G6 PRIC2_HUMAN prickle homolog 2 (Drosophila) 728 Arg-rich. cytoplasm|nuclear membrane zinc ion binding breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1) 32 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) CTCCGCTGGCGCATAAATTGG 0.617000 4 223 0 0 1 0 0 OR10H2 26538 broad.mit.edu 37 19 15839311 15839311 + Missense_Mutation SNP C C T rs139469467 TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr19:15839311C>T ENST00000305899.3 + 1 478 c.458C>T c.(457-459)tCg>tTg p.S153L NM_013939.2 NP_039227.1 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, member 2 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1) 27 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) GCTGGTGGCTCGGTCATGGGG 0.592000 5 252 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37698695 37698695 + Missense_Mutation SNP G G A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr8:37698695G>A ENST00000315215.7 + 16 2551 c.2188G>A c.(2188-2190)Ggg>Agg p.G730R GPR124_ENST00000412232.2_Missense_Mutation_p.G947R Q96PE1 GP124_HUMAN G protein-coupled receptor 124 947 GPS. central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CCTGTGCGCCGGGCTACGCTT 0.627000 5 281 0 0 1 0 0 CLN5 1203 broad.mit.edu 37 13 77570161 77570161 + Missense_Mutation SNP C C T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr13:77570161C>T ENST00000377453.3 + 3 1903 c.611C>T c.(610-612)gCc>gTc p.A204V CLN5_ENST00000485938.1_3'UTR NM_006493.2 NP_006484.1 O75503 CLN5_HUMAN ceroid-lipofuscinosis, neuronal 5 155 brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0503) GAAATGGATGCCCCTTTCTGG 0.418000 6 506 0 0 1 0 0 DNM1P46 0 broad.mit.edu 37 15 100340379 100340379 + RNA SNP T T C TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr15:100340379T>C ENST00000341853.1 - 0 547 NR_003260.1 GTGCCTACTCTGCCGACTCCT 0.592000 5 72 0 0 1 0 0 IL17B 27190 broad.mit.edu 37 5 148756445 148756445 + Silent SNP C C T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr5:148756445C>T ENST00000261796.3 - 2 215 c.165G>A c.(163-165)ccG>ccA p.P55P IL17B_ENST00000505432.1_5'UTR NM_014443.2 NP_055258.1 Q9UHF5 IL17B_HUMAN interleukin 17B 55 cell-cell signaling|immune response|inflammatory response extracellular space cytokine activity|signal transducer activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGGGCATACGGTTTCATCC 0.622000 6 344 0 0 1 0 0 EFCAB12 90288 broad.mit.edu 37 3 129140359 129140359 + Missense_Mutation SNP G G A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr3:129140359G>A ENST00000505956.1 - 2 499 c.337C>T c.(337-339)Cgg>Tgg p.R113W EFCAB12_ENST00000326085.3_Missense_Mutation_p.R113W NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 AGCTCCTGCCGCAGCTTCGAC 0.552000 4 187 0 0 1 0 0 SIGLEC11 114132 broad.mit.edu 37 19 50462043 50462043 + Missense_Mutation SNP C C T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr19:50462043C>T ENST00000447370.2 - 7 1310 c.1220G>A c.(1219-1221)gGa>gAa p.G407E SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G407E NM_052884.2 NP_443116.2 Q96RL6 SIG11_HUMAN sialic acid binding Ig-like lectin 11 407 Ig-like C2-type 3. cell adhesion integral to membrane sugar binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1) 32 all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17) GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517) CACGGTCTGTCCCCACCGGGT 0.682000 5 238 0 0 1 0 0 CDC5L 988 broad.mit.edu 37 6 44392244 44392244 + Missense_Mutation SNP C C T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr6:44392244C>T ENST00000371477.3 + 11 1792 c.1493C>T c.(1492-1494)gCc>gTc p.A498V NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 498 Interaction with PPP1R8. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCAGAAAATGCCGAGAAGGAG 0.438000 4 183 0 0 1 0 0 MAPK8IP2 23542 broad.mit.edu 37 22 51045410 51045410 + Missense_Mutation SNP G G A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr22:51045410G>A ENST00000399908.2 + 8 2212 c.1496G>A c.(1495-1497)cGc>cAc p.R499H MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.R470H|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.R764H|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.R487H|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.R499H|MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.R385H NM_016431.3 NP_057515.1 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting protein 2 765 behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGCCATCCCCGCAACAGCTGG 0.612000 5 296 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 85950147 85950147 + Missense_Mutation SNP T T C TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chrX:85950147T>C ENST00000373131.1 + 4 1020 c.857T>C c.(856-858)cTc>cCc p.L286P DACH2_ENST00000508860.1_Missense_Mutation_p.L132P|DACH2_ENST00000373125.4_Missense_Mutation_p.L299P|DACH2_ENST00000510272.1_Missense_Mutation_p.L80P NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 GCTCCAACCCTCAATCCACTG 0.483000 3 64 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53855284 53855284 + Silent SNP G G A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr19:53855284G>A ENST00000458035.1 + 4 1473 c.1356G>A c.(1354-1356)tcG>tcA p.S452S ZNF845_ENST00000595091.1_Silent_p.S452S NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 452 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S452S(2) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 GTTTCAAATCGAACCTTGAAA 0.398000 7 375 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A A G rs112443847 TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr16:72821618A>G ENST00000268489.5 - 10 11229 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3519 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G3519G(3) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccaccgccgccgc 0.716000 4 171 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1268340 1268340 + Silent SNP A A T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr11:1268340A>T ENST00000447027.1 + 31 10297 c.10239A>T c.(10237-10239)ccA>ccT p.P3413P RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3410P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3410 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) cctcaactccagggacaactc 0.637000 4 32 0 0 1 0 0 DUSP13 0 broad.mit.edu 37 10 76855494 76855494 + Missense_Mutation SNP G G A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr10:76855494G>A ENST00000491677.2 - 7 1162 c.620C>T c.(619-621)gCc>gTc p.A207V DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V|DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V|DUSP13_ENST00000472493.2_Missense_Mutation_p.A78V NM_001007271.1 NP_001007272.1 Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 70 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) GCCTGCAGCGGCATTCACAAC 0.577000 10 596 0 0 1 0 0 SLC7A9 11136 broad.mit.edu 37 19 33355167 33355167 + Missense_Mutation SNP C C A rs121908480 byFrequency TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr19:33355167C>A ENST00000023064.4 - 4 504 c.313G>T c.(313-315)Ggg>Tgg p.G105W SLC7A9_ENST00000587772.1_Missense_Mutation_p.G105W|SLC7A9_ENST00000590341.1_Missense_Mutation_p.G105W NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 105 G -> R (in CSNU; type III; frequent mutation; severe loss of amino acid transport activity). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding p.G105W(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) GGGATGGGCCCGTAGGCCTCC 0.592000 4 156 1 1 1 1 0 DNM1P47 0 broad.mit.edu 37 15 102292989 102292989 + RNA SNP C C A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr15:102292989C>A ENST00000561463.1 + 0 1035 TGCTGTCCAACCTGCACTCGC 0.582000 5 74 5.18039e-06 5.89493e-06 1 1 0 MST1 4485 broad.mit.edu 37 3 49723603 49723603 + Missense_Mutation SNP G G A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr3:49723603G>A ENST00000449682.2 - 9 1400 c.1039C>T c.(1039-1041)Cgg>Tgg p.R347W MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 333 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.R333W(5) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCGGGGTTCCGGCAGAAGTTC 0.662000 5 94 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49701953 49701953 + Silent SNP C C T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr3:49701953C>T ENST00000296452.4 + 9 11820 c.11706C>T c.(11704-11706)ggC>ggT p.G3902G NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3902 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TCCTCCCTGGCGGGGCAGCCG 0.642000 5 265 0 0 1 0 0 TXNDC2 0 broad.mit.edu 37 18 9886894 9886894 + Missense_Mutation SNP A A G rs146821851 TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr18:9886894A>G ENST00000306084.6 + 2 617 c.418A>G c.(418-420)Aaa>Gaa p.K140E TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 140 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity p.K140E(2)|p.K73E(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 GTCCTCAGAAAAAGCCATCCA 0.547000 6 493 0 0 1 0 0 IGKV1D-16 0 broad.mit.edu 37 2 90139477 90139477 + RNA SNP G G A rs2848291 by1000genomes TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr2:90139477G>A ENST00000492446.1 + 0 275 GTCCCATCAAGGTTCAGCGGC 0.483000 7 586 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 4 190 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67794755 67794755 + Missense_Mutation SNP C C A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr18:67794755C>A ENST00000255674.6 - 25 3652 c.3366G>T c.(3364-3366)tgG>tgT p.W1122C RTTN_ENST00000437017.1_Missense_Mutation_p.W1122C|RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1122 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) GTGCGGTGTGCCAAGCCAAGG 0.463000 4 168 0.00024832 0.000264341 1 1 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664743 22664743 + RNA SNP G G A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr22:22664743G>A ENST00000426066.1 + 0 924 NR_027293.1 CAGACTAAAGGCAAACAAGGA 0.498000 5 132 0 0 1 0 0 RP11-296I10.6 0 broad.mit.edu 37 16 70253871 70253871 + RNA SNP A A G TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr16:70253871A>G ENST00000581050.1 - 0 1619 NR_033959.1 GTAAAGCTTCACCGAAGAGTG 0.388000 3 73 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170884937 170884937 + Missense_Mutation SNP C C T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr3:170884937C>T ENST00000436636.2 - 10 1240 c.896G>A c.(895-897)cGc>cAc p.R299H TNIK_ENST00000470834.1_Missense_Mutation_p.R299H|TNIK_ENST00000538048.1_Missense_Mutation_p.R299H|TNIK_ENST00000341852.6_Missense_Mutation_p.R299H|TNIK_ENST00000369326.5_Missense_Mutation_p.R299H|TNIK_ENST00000475336.1_Missense_Mutation_p.R299H|TNIK_ENST00000488470.1_Missense_Mutation_p.R299H|TNIK_ENST00000357327.5_Missense_Mutation_p.R299H|TNIK_ENST00000284483.8_Missense_Mutation_p.R299H|TNIK_ENST00000460047.1_Missense_Mutation_p.R299H NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 299 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GAGTTGAATGCGGACCTGTCG 0.428000 4 153 0 0 1 0 0 WNT9B 7484 broad.mit.edu 37 17 44950050 44950050 + Missense_Mutation SNP C C T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr17:44950050C>T ENST00000393461.2 + 2 298 c.245C>T c.(244-246)gCg>gTg p.A82V WNT9B_ENST00000290015.2_Missense_Mutation_p.A82V O14905 WNT9B_HUMAN wingless-type MMTV integration site family, member 9B 82 anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding large_intestine(2)|lung(8) 10 BRCA - Breast invasive adenocarcinoma(9;0.0257) AGGGATGCTGCGCACCTCGGC 0.662000 4 136 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 7 75 0 0 1 0 0 PABPC4 8761 broad.mit.edu 37 1 40028015 40028016 + Frame_Shift_Ins INS - - G TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr1:40028015_40028016insG ENST00000372857.3 - 13 2485_2486 c.1693_1694insC c.(1693-1695)ggafs p.G565fs PABPC4_ENST00000372858.3_Frame_Shift_Ins_p.G581fs|PABPC4_ENST00000372862.3_Frame_Shift_Ins_p.G536fs|PABPC4_ENST00000372856.3_Frame_Shift_Ins_p.G552fs NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 565 PABC. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CTTCTGTTCCTGGGGGGGTGCT 0.604 7 310 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 7 259 --- --- --- --- GBP5 115362 broad.mit.edu 37 1 89732166 89732166 + Frame_Shift_Del DEL T T - rs34148688 TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr1:89732166delT ENST00000343435.5 - 7 1267 c.731delA c.(730-732)agfs p.K244fs GBP5_ENST00000481145.1_5'UTR|GBP5_ENST00000370459.3_Frame_Shift_Del_p.K244fs|RP4-620F22.2_ENST00000437128.1_RNA NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 244 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) TTGGGCAAGCTTTTTTTGGTG 0.388 8 576 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210446 143210446 + RNA DEL T T - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr1:143210446delT ENST00000412204.2 - 0 624 RP11-782C8.1_ENST00000438000.1_lincRNA GTCCATATACTAAAAAGGTTA 0.284 9 120 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161059028 161059030 + In_Frame_Del DEL AGC AGC - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr1:161059028_161059030delAGC ENST00000368012.3 - 1 359_361 c.57_59delGCT c.(55-60)cta>ct p.LL21del NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 21 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGCCAGCAGTAGCAGCAGCAGCA 0.567 7 447 --- --- --- --- TMCO1 54499 broad.mit.edu 37 1 165712550 165712551 + Splice_Site INS - - A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr1:165712550_165712551insA ENST00000367881.5 - 6 752 c.e6-2 TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site Q9UM00 TMCO1_HUMAN transmembrane and coiled-coil domains 1 endoplasmic reticulum membrane|Golgi membrane|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155) CCATCAAATCTAAAAGAAAAAA 0.381 9 260 --- --- --- --- RP11-400N13.1 0 broad.mit.edu 37 1 222376802 222376802 + RNA DEL T T - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr1:222376802delT ENST00000416510.1 - 0 278 TTCCTCCAGGTTATATCATGC 0.433 2 4 --- --- --- --- AC113607.1 0 broad.mit.edu 37 2 859471 859472 + RNA DEL CA CA - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr2:859471_859472delCA ENST00000414556.1 - 0 309 NR_033880.1 ACCCCCCCCCCAGCCCCCACTG 0.663 4 5 --- --- --- --- ASXL2 55252 broad.mit.edu 37 2 26022304 26022306 + In_Frame_Del DEL CTG CTG - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr2:26022304_26022306delCTG ENST00000435504.4 - 5 644_646 c.351_353delCAG c.(349-354)agt>ag p.SS117del ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 117 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCACCATCACTGCTGCTGCTGC 0.463 7 609 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61575023 61575025 + In_Frame_Del DEL TGG TGG - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr2:61575023_61575025delTGG ENST00000398571.2 - 15 2341_2343 c.2265_2267delCCA c.(2263-2268)cat>ca p.HH759del NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 759 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) gtggtggtgatggtggtggtggt 0.389 10 272 --- --- --- --- SP3 6670 broad.mit.edu 37 2 174829202 174829204 + In_Frame_Del DEL GCC GCC - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr2:174829202_174829204delGCC ENST00000310015.6 - 2 615_617 c.85_87delGGC c.(85-87)del p.G29del SP3_ENST00000455789.2_In_Frame_Del_p.G17del NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 29 Poly-Gly. negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) ACTcgccgtggccgccgccgccg 0.719 2 4 --- --- --- --- GTF3C3 9330 broad.mit.edu 37 2 197649613 197649614 + Frame_Shift_Ins INS - - T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr2:197649613_197649614insT ENST00000263956.3 - 8 1170_1171 c.1081_1082insA c.(1081-1083)ttcfs p.F361fs GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 361 transcription factor TFIIIC complex DNA binding|protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 TTCTTCTGAAGTTTTTTTTTCC 0.337 8 271 --- --- --- --- KIAA2018 205717 broad.mit.edu 37 3 113380090 113380090 + Frame_Shift_Del DEL T T - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr3:113380090delT ENST00000316407.4 - 7 849 c.439delA c.(439-441)ttfs p.I148fs KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 148 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TAAACAATAATTTTTTTTTGA 0.373 10 457 --- --- --- --- ZNF876P 0 broad.mit.edu 37 4 217874 217874 + RNA DEL G G - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr4:217874delG ENST00000356347.3 + 0 172 NR_027481.1 ggctgcttcagggagcacagc 0.537 7 135 --- --- --- --- KLF3 51274 broad.mit.edu 37 4 38691476 38691476 + Frame_Shift_Del DEL C C - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr4:38691476delC ENST00000261438.5 + 4 976 c.671delC c.(670-672)tcfs p.S224fs KLF3_ENST00000514033.1_Frame_Shift_Del_p.S224fs NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 224 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 AACTCAGTGTCCCCCCCGCAA 0.423 8 713 --- --- --- --- RIOK1 83732 broad.mit.edu 37 6 7393450 7393452 + In_Frame_Del DEL GAC GAC - rs2274212 byFrequency TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr6:7393450_7393452delGAC ENST00000379834.2 + 2 697_699 c.190_192delGAC c.(190-192)del p.D69del NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 69 ATP binding|protein serine/threonine kinase activity p.D57G(1) cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) ggagggttatgacgatgatgatg 0.433 8 259 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32521545 32521546 + RNA INS - - AAGG rs144810212 by1000genomes TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr6:32521545_32521546insAAGG ENST00000411500.1 - 0 851 NR_001298.1 TTGGGGAAAGACTTTATCCAGG 0.436 8 6 --- --- --- --- CLIP2 7461 broad.mit.edu 37 7 73771745 73771746 + Frame_Shift_Ins INS - - C TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr7:73771745_73771746insC ENST00000223398.6 + 6 1480_1481 c.1153_1154insC c.(1153-1155)cacfs p.H385fs CLIP2_ENST00000395060.1_Frame_Shift_Ins_p.H385fs|CLIP2_ENST00000361545.5_Frame_Shift_Ins_p.H385fs NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 385 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 GGTGGCCAAGGCCACAAGCCAC 0.629 7 95 --- --- --- --- CBLL1 79872 broad.mit.edu 37 7 107395909 107395909 + Frame_Shift_Del DEL A A - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr7:107395909delA ENST00000440859.2 + 5 880 c.413delA c.(412-414)gafs p.E138fs CBLL1_ENST00000415884.2_Intron|CBLL1_ENST00000222597.2_Frame_Shift_Del_p.E137fs NM_024814.2 NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase 138 cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 ATTTTACATGAAAAAAAGGGA 0.269 7 862 --- --- --- --- ADCK5 203054 broad.mit.edu 37 8 145617535 145617549 + Splice_Site DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - rs11270020 TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr8:145617535_145617549delGGGGGTGCAAGGTGA ENST00000308860.6 + 12 1301_1311 c.1267_splice c.e12+1 p.L419_splice NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 419 Protein kinase. integral to membrane protein serine/threonine kinase activity p.?(2) endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA 0.730 4 6 --- --- --- --- FOLH1B 219595 broad.mit.edu 37 11 89405323 89405326 + RNA DEL TTTA TTTA - rs34562444 TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr11:89405323_89405326delTTTA 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 aattatattgtttatttatttttg 0.230 10 22 --- --- --- --- KIF21A 55605 broad.mit.edu 37 12 39713783 39713784 + Frame_Shift_Ins INS - - T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr12:39713783_39713784insT ENST00000395670.3 - 27 4122_4123 c.3703_3704insA c.(3703-3705)tccfs p.S1235fs KIF21A_ENST00000547745.1_5'UTR|KIF21A_ENST00000361961.3_Frame_Shift_Ins_p.S1222fs|KIF21A_ENST00000361418.5_Frame_Shift_Ins_p.S1235fs|KIF21A_ENST00000541463.2_Frame_Shift_Ins_p.S1199fs|KIF21A_ENST00000544797.2_Frame_Shift_Ins_p.S1215fs Q7Z4S6 KI21A_HUMAN kinesin family member 21A 1235 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) AGGCTCTGGAATTTTTTTTTCT 0.342 7 548 --- --- --- --- EBPL 84650 broad.mit.edu 37 13 50235208 50235209 + Frame_Shift_Ins INS - - A TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr13:50235208_50235209insA ENST00000242827.6 - 4 566_567 c.516_517insT c.(514-519)ttacggfs p.LR172fs EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378270.5_Stop_Codon_Ins|EBPL_ENST00000378284.2_3'UTR NM_032565.3 NP_115954.1 Q9BY08 EBPL_HUMAN emopamil binding protein-like 172 sterol metabolic process endoplasmic reticulum membrane|integral to membrane cholestenol delta-isomerase activity p.F172fs*7(1) endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.06e-09) CACACACCGTTAAAAAAAAACA 0.480 7 239 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 9 492 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690204 75690206 + In_Frame_Del DEL GAA GAA - rs140846731 TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr16:75690204_75690206delGAA ENST00000300086.4 + 3 992_994 c.895_897delGAA c.(895-897)del p.E304del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 304 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TGATgaggaggaagaagaagaag 0.424 13 300 --- --- --- --- ANKRD11 29123 broad.mit.edu 37 16 89349640 89349641 + Frame_Shift_Ins INS - - T TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr16:89349640_89349641insT ENST00000301030.4 - 9 3769_3770 c.3309_3310insA c.(3307-3312)aaatgafs p.*1104fs ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.*1104fs NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1104 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTCTTGTCATCTTTTTTTTCAG 0.465 7 752 --- --- --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr17:3721809_3721811delTCC ENST00000158149.3 - 11 1111_1113 c.216_218delGGA c.(214-219)gaa>ga p.EE78del C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del Q53F19 CQ085_HUMAN chromosome 17 open reading frame 85 358 nucleotide binding endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.507 9 442 --- --- --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr17:38978766_38978768delTCC ENST00000269576.5 - 1 79_81 c.70_72delGGA c.(70-72)del p.G24del TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 24 Gly-rich.|Head. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.547 11 123 --- --- --- --- STAT5B 6777 broad.mit.edu 37 17 40370236 40370236 + Frame_Shift_Del DEL G G - rs144993426 TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr17:40370236delG ENST00000293328.3 - 9 1270 c.1102delC c.(1102-1104)agfs p.Q368fs NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 368 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) GCCTTCACCTGGGGGGGGTTC 0.577 7 190 --- --- --- --- LRRC37A3 374819 broad.mit.edu 37 17 62856336 62856336 + Frame_Shift_Del DEL T T - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr17:62856336delT ENST00000584306.1 - 11 4458 c.3928delA c.(3928-3930)ctfs p.T1310fs LRRC37A3_ENST00000400877.3_Frame_Shift_Del_p.T348fs|LRRC37A3_ENST00000319651.5_Frame_Shift_Del_p.T1310fs|LRRC37A3_ENST00000334962.5_Frame_Shift_Del_p.T287fs|LRRC37A3_ENST00000339474.5_Frame_Shift_Del_p.T428fs NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1310 integral to membrane p.T1310S(1) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 CGGGAGCGAGTTTTGTGAAAG 0.418 9 1221 --- --- --- --- ZNF181 339318 broad.mit.edu 37 19 35231932 35231932 + Frame_Shift_Del DEL G G - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr19:35231932delG ENST00000392232.3 + 6 946 c.778delG c.(778-780)ggfs p.G260fs ZNF181_ENST00000492450.1_Frame_Shift_Del_p.G216fs|ZNF181_ENST00000459757.1_Frame_Shift_Del_p.G215fs Q2M3W8 ZN181_HUMAN zinc finger protein 181 216 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TAATAAAAGTGGGGCAGCCTT 0.358 7 619 --- --- --- --- C21orf58 54058 broad.mit.edu 37 21 47721985 47721986 + In_Frame_Ins INS - - TGG rs144223236 by1000genomes TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr21:47721985_47721986insTGG ENST00000291691.7 - 8 2032_2033 c.896_897insCCA c.(895-897)cgc>cCCAgc p.299_299R>PS C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397683.1_In_Frame_Ins_p.193_193R>PS|C21orf58_ENST00000397682.3_In_Frame_Ins_p.193_193R>PS|C21orf58_ENST00000397680.1_In_Frame_Ins_p.193_193R>PS|C21orf58_ENST00000397679.1_In_Frame_Ins_p.193_193R>PS NM_058180.3 NP_478060.2 P58505 CU058_HUMAN chromosome 21 open reading frame 58 299 Poly-His. p.H299_A300insH(3) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1) 9 Breast(49;0.112) Colorectal(79;0.239) GCCACACAGCAtggtggtggtg 0.708 6 6 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610573 42610575 + In_Frame_Del DEL AGG AGG - TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chr22:42610573_42610575delAGG ENST00000359486.3 - 1 873_875 c.737_739delCCT c.(736-741)ttc>t p.SF246del TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGTGAAGGGAaggaggaggagga 0.507 8 367 --- --- --- --- PRPS2 5634 broad.mit.edu 37 X 12827359 12827360 + Frame_Shift_Ins INS - - C TCGA-IB-AAUV-01A-11D-A38G-08 TCGA-IB-AAUV-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a6ed3bc0-d0b9-4ab8-b0aa-f95c82c12cc7 2d3fe7a3-7260-43ff-8dc6-1ef945e51bd7 g.chrX:12827359_12827360insC ENST00000380668.5 + 3 441_442 c.313_314insC c.(313-315)cccfs p.P105fs PRPS2_ENST00000489404.1_Frame_Shift_Ins_p.P105fs|PRPS2_ENST00000398491.2_Frame_Shift_Ins_p.P108fs NM_001039091.2|NM_002765.4 NP_001034180.1|NP_002756.1 P11908 PRPS2_HUMAN phosphoribosyl pyrophosphate synthetase 2 105 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 16 GTAGAGTCGTGCCCCAATTTCT 0.436 7 284 --- --- --- ---