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 HAUS6 54801 broad.mit.edu 37 9 19060130 19060130 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:19060130G>A ENST00000380502.3 - 15 2188 c.1721C>T c.(1720-1722)cCc>cTc p.P574L HAUS6_ENST00000380496.1_Missense_Mutation_p.P438L NM_017645.3 NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 574 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TGTTAAGAAGGGGTTAGAACC 0.373000 5 44 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102445654 102445654 + Splice_Site SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:102445654A>T ENST00000360184.4 + 3 508 c.e3-1 NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TTTTCTTTTTAGCTTGGCATT 0.358000 8 433 0 0 1 0 0 GKN2 200504 broad.mit.edu 37 2 69173558 69173558 + Nonsense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:69173558C>T ENST00000481498.1 - 5 368 c.350G>A c.(349-351)tGg>tAg p.W117* GKN2_ENST00000328895.4_Nonsense_Mutation_p.W117* Q86XP6 GKN2_HUMAN gastrokine 2 117 BRICHOS. extracellular region p.W117L(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 15 GTACTTGACCCAGGTGTATTT 0.403000 4 229 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5209271 5209271 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:5209271A>T ENST00000274181.7 + 10 1655 c.1517A>T c.(1516-1518)aAa>aTa p.K506I ADAMTS16_ENST00000511368.1_Missense_Mutation_p.K506I NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 506 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.K506I(2) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TATCCTGAGAAATTGCCAGGA 0.448000 19 497 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24874693 24874693 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:24874693A>T ENST00000396432.2 - 26 5011 c.4525T>A c.(4525-4527)Tca>Aca p.S1509T NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1508 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 TTGTGTTTTGAGTTGTGTGGT 0.488000 8 844 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120576613 120576613 + Missense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:120576613C>A ENST00000300648.6 - 46 6054 c.6042G>T c.(6040-6042)ttG>ttT p.L2014F NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 2014 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTGGGTCACACAAAGCCTTCC 0.547000 26 949 3.08376e-08 3.47803e-08 1 1 0 CBLC 23624 broad.mit.edu 37 19 45284600 45284600 + Missense_Mutation SNP G G C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:45284600G>C ENST00000270279.3 + 3 700 c.637G>C c.(637-639)Gtc>Ctc p.V213L CBLC_ENST00000341505.4_Missense_Mutation_p.V213L NM_012116.3 NP_036248.3 Q9ULV8 CBLC_HUMAN Cbl proto-oncogene C, E3 ubiquitin protein ligase 213 Cbl-PTB.|EF-hand-like. cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.V213L(1) breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) CGAGTTCGACGTCTTCACCAG 0.612000 M AML 52 34 0 0 1 0 0 RAB7L1 8934 broad.mit.edu 37 1 205741655 205741655 + Missense_Mutation SNP C C G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:205741655C>G ENST00000367139.3 - 3 468 c.165G>C c.(163-165)gaG>gaC p.E55D RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000446390.2_Intron|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000414729.1_Missense_Mutation_p.E55D|RAB7L1_ENST00000235932.4_Missense_Mutation_p.E55D NM_003929.2 NP_003920.1 O14966 RAB7L_HUMAN RAB7, member RAS oncogene family-like 1 55 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 10 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0194) GCCGCACTATCTCGTAGTCAG 0.363000 4 496 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234869499 234869499 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:234869499G>A ENST00000324695.4 + 12 1482 c.1442G>A c.(1441-1443)gGc>gAc p.G481D TRPM8_ENST00000433712.2_Missense_Mutation_p.G169D NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 481 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CTGGAGAATGGCTTGAACCTA 0.478000 5 494 0 0 1 0 0 BIRC8 112401 broad.mit.edu 37 19 53793248 53793248 + Missense_Mutation SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:53793248T>C ENST00000426466.1 - 1 1627 c.380A>G c.(379-381)gAc>gGc p.D127G NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 127 apoptosis zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) TTTCTTAACGTCCTTGAAATC 0.383000 4 212 0 0 1 0 0 LIX1L 128077 broad.mit.edu 37 1 145492240 145492240 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:145492240C>T ENST00000369308.3 + 3 536 c.462C>T c.(460-462)tgC>tgT p.C154C RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000437207.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA NM_153713.1 NP_714924.1 Q8IVB5 LIX1L_HUMAN Lix1 homolog (mouse)-like 154 large_intestine(4)|lung(6)|ovary(2)|skin(1) 13 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCTAGTTTTGCCCCACAAAAG 0.448000 4 392 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 884397 884397 + Missense_Mutation SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr4:884397T>C ENST00000314167.4 - 10 1114 c.1004A>G c.(1003-1005)aAt>aGt p.N335S GAK_ENST00000511163.1_Missense_Mutation_p.N256S NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 335 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) GTAGCCTCCATTCTGCTCCAG 0.632000 2 4 0 0 1 0 0 SLC9A9 285195 broad.mit.edu 37 3 143297454 143297454 + Silent SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr3:143297454C>A ENST00000316549.6 - 7 1075 c.867G>T c.(865-867)ggG>ggT p.G289G NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 289 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity p.G289G(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 CATACGCAGACCCCATTGCAA 0.458000 33 357 3.78316e-11 4.34623e-11 1 1 0 BICD1 636 broad.mit.edu 37 12 32369279 32369279 + Nonsense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:32369279C>A ENST00000548411.1 + 2 493 c.312C>A c.(310-312)taC>taA p.Y104* BICD1_ENST00000281474.5_Nonsense_Mutation_p.Y104* NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 104 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AGGAGGCTTACTATCTGGGGA 0.547000 10 188 0.000442599 0.000467188 1 1 0 COPS4 51138 broad.mit.edu 37 4 83970374 83970374 + Nonsense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr4:83970374C>A ENST00000509093.1 + 3 988 c.210C>A c.(208-210)tgC>tgA p.C70* COPS4_ENST00000511653.1_Nonsense_Mutation_p.C70*|COPS4_ENST00000511708.1_3'UTR|COPS4_ENST00000264389.2_Nonsense_Mutation_p.C70*|COPS4_ENST00000503682.1_Nonsense_Mutation_p.C70* NM_001258006.1 NP_001244935.1 Q9BT78 CSN4_HUMAN COP9 signalosome subunit 4 70 cullin deneddylation cytoplasm|signalosome protein binding p.C70*(1) endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2) 13 Hepatocellular(203;0.114) CTGATTTTTGCACACATCTTC 0.383000 18 62 1.50039e-11 1.73176e-11 1 1 0 OR52A1 23538 broad.mit.edu 37 11 5172907 5172907 + Missense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:5172907C>A ENST00000380367.1 - 2 1110 c.693G>T c.(691-693)ttG>ttT p.L231F OR52A1_ENST00000328942.1_Missense_Mutation_p.L231F Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 231 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTTCTGGGGCAAACGAAAAA 0.428000 15 199 0.00316338 0.00326927 1 1 0 KLRB1 3820 broad.mit.edu 37 12 9747902 9747902 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:9747902G>T ENST00000229402.3 - 6 692 c.646C>A c.(646-648)Cct>Act p.P216T NM_002258.2 NP_002249.1 Q12918 KLRB1_HUMAN killer cell lectin-like receptor subfamily B, member 1 216 cell surface receptor linked signaling pathway integral to membrane|plasma membrane sugar binding|transmembrane receptor activity endometrium(2)|large_intestine(6)|lung(4) 12 TTTCTCACAGGTGTTAGTTCT 0.373000 8 283 1.06961e-07 1.19545e-07 1 1 0 CSMD1 64478 broad.mit.edu 37 8 2876174 2876174 + Splice_Site SNP T T A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr8:2876174T>A ENST00000602557.1 - 53 8414 c.e53-2 CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000520002.1_Splice_Site|CSMD1_ENST00000602723.1_Intron Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACGAGATAACTAGAAGGAAAA 0.378000 6 123 0 0 1 0 0 ANKRD42 338699 broad.mit.edu 37 11 82905759 82905759 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:82905759C>T ENST00000393389.3 + 1 979 c.47C>T c.(46-48)aCt>aTt p.T16I ANKRD42_ENST00000393392.2_Missense_Mutation_p.T16I|ANKRD42_ENST00000528722.1_Intron|ANKRD42_ENST00000260047.6_Missense_Mutation_p.T16I|ANKRD42_ENST00000531895.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000533342.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000526731.1_Missense_Mutation_p.T16I Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 16 p.T16I(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 TCTAGGGAGACTGCAAACCCC 0.572000 27 79 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232650730 232650730 + Missense_Mutation SNP C C G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:232650730C>G ENST00000366630.1 - 2 714 c.356G>C c.(355-357)aGt>aCt p.S119T SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S119T Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 119 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.S119T(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ACTCTGGTCACTCTGCCCATT 0.502000 45 185 0 0 1 0 0 EXTL2 2135 broad.mit.edu 37 1 101339500 101339500 + Nonstop_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:101339500A>T ENST00000370114.3 - 5 2427 c.991T>A c.(991-993)Taa>Aaa p.*331K EXTL2_ENST00000535414.1_Nonstop_Mutation_p.*318K|EXTL2_ENST00000370113.3_Nonstop_Mutation_p.*331K NM_001033025.2|NM_001261440.1 NP_001028197.1|NP_001248369.1 Q9UBQ6 EXTL2_HUMAN exostosin-like glycosyltransferase 2 0 N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 14 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) TTTTACTTTTATATTTTTCTT 0.303000 4 77 0 0 1 0 0 ERICH1 157697 broad.mit.edu 37 8 623839 623839 + Silent SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr8:623839A>T ENST00000262109.7 - 4 590 c.513T>A c.(511-513)atT>atA p.I171I ERICH1_ENST00000522706.1_Silent_p.I77I NM_207332.1 NP_997215.1 Q86X53 ERIC1_HUMAN glutamate-rich 1 171 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) TCTTCCTTTTAATTTGCTGTT 0.473000 5 48 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9424626 9424626 + Splice_Site SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr20:9424626A>T ENST00000378501.2 + 27 2743 c.e27-1 PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000378493.1_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TTGTTTGTTTAGGTATTGAAC 0.308000 6 144 0 0 1 0 0 ZNF106 64397 broad.mit.edu 37 15 42742008 42742008 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr15:42742008A>T ENST00000263805.4 - 2 2719 c.2393T>A c.(2392-2394)gTa>gAa p.V798E ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 TTTCTTGGTTACTTGCTGAAT 0.458000 8 459 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222940 140222940 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:140222940G>A ENST00000531613.1 + 1 2034 c.2034G>A c.(2032-2034)gcG>gcA p.A678A PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.A678A|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCAAAAGCGTCATCGAGGC 0.632000 3 48 0 0 1 0 0 RTN4 57142 broad.mit.edu 37 2 55253832 55253832 + Missense_Mutation SNP T T G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:55253832T>G ENST00000337526.6 - 3 1646 c.1403A>C c.(1402-1404)aAc>aCc p.N468T RTN4_ENST00000357376.3_Missense_Mutation_p.N262T|RTN4_ENST00000354474.6_Missense_Mutation_p.N236T|RTN4_ENST00000404909.1_Missense_Mutation_p.N262T|RTN4_ENST00000405240.1_Missense_Mutation_p.N262T|RTN4_ENST00000394611.2_Missense_Mutation_p.N262T|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 468 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding p.N262T(1)|p.N468T(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 TGCTGCTGGGTTAAAGGGAGC 0.378000 11 158 0 0 1 0 0 ZNF134 7693 broad.mit.edu 37 19 58132522 58132522 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:58132522G>T ENST00000396161.5 + 3 1345 c.1035G>T c.(1033-1035)gaG>gaT p.E345D NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 345 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) AGCCGTTTGAGTGCATTGAAT 0.428000 5 432 0.000602214 0.000627624 1 1 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 4 74 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32910986 32910986 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr13:32910986G>A ENST00000544455.1 + 11 2721 c.2494G>A c.(2494-2496)Gag>Aag p.E832K BRCA2_ENST00000380152.3_Missense_Mutation_p.E832K NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 832 Interaction with NPM1. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding p.E832K(2) NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TAAAAACGTTGAGCTGTTGCC 0.308000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 7 51 0 0 1 0 0 EVA1C 59271 broad.mit.edu 37 21 33840085 33840085 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr21:33840085C>T ENST00000300255.2 + 4 1036 c.563C>T c.(562-564)tCt>tTt p.S188F EVA1C_ENST00000382699.3_Missense_Mutation_p.S188F|EVA1C_ENST00000401402.3_Missense_Mutation_p.S188F NM_058187.3 NP_478067.2 eva-1 homolog C (C. elegans) AACATCTACTCTGCGACCTAC 0.483000 6 105 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90125915 90125915 + Splice_Site SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr15:90125915A>T ENST00000268138.7 + 2 759 c.e2-1 RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Splice_Site TOPBP1-interacting checkpoint and replication regulator GTTTTATTTTAGTTGTGGGAA 0.398000 4 144 0 0 1 0 0 CCDC122 160857 broad.mit.edu 37 13 44433878 44433878 + Nonsense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr13:44433878A>T ENST00000444614.3 - 5 743 c.485T>A c.(484-486)tTa>tAa p.L162* CCDC122_ENST00000281508.3_Nonsense_Mutation_p.L162*|CCDC122_ENST00000476570.2_5'UTR NM_144974.3 NP_659411.2 Q5T0U0 CC122_HUMAN coiled-coil domain containing 122 162 endometrium(1)|large_intestine(2)|lung(5)|stomach(1) 9 Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128) CATTGTCTTTAATTTTTTAAC 0.318000 4 74 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13766201 13766201 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:13766201G>A ENST00000265104.4 - 59 10089 c.9985C>T c.(9985-9987)Ctg>Ttg p.L3329L DNAH5_ENST00000504001.3_Intron NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3329 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTTTGAAACAGCAGCAGTACG 0.517000 Kartagener syndrome 4 273 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 4 251 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74659521 74659521 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr18:74659521C>T ENST00000253159.8 + 27 5019 c.4821C>T c.(4819-4821)ggC>ggT p.G1607G ZNF236_ENST00000320610.9_Silent_p.G1609G NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1607 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CTCTCTCGGGCCAGGGTGGAG 0.507000 4 296 0 0 1 0 0 MPHOSPH6 10200 broad.mit.edu 37 16 82182372 82182372 + Silent SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:82182372A>T ENST00000258169.4 - 5 497 c.447T>A c.(445-447)atT>atA p.I149I MPHOSPH6_ENST00000563504.1_Silent_p.I120I NM_005792.2 NP_005783.2 Q99547 MPH6_HUMAN M-phase phosphoprotein 6 149 M phase of mitotic cell cycle|maturation of 5.8S rRNA cytoplasm|nucleolus protein binding|RNA binding endometrium(1)|large_intestine(1)|lung(3) 5 TCTTTGCTTTAATTGGTGTTA 0.453000 8 278 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67302932 67302932 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:67302932A>T ENST00000392676.3 - 6 786 c.722T>A c.(721-723)gTa>gAa p.V241E ABCA5_ENST00000392677.2_Missense_Mutation_p.V241E|ABCA5_ENST00000588877.1_Missense_Mutation_p.V241E Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 241 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) TTTTTCTGCTACGATATGAAT 0.269000 6 44 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167893 140167893 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:140167893G>A ENST00000504120.2 + 1 2018 c.2018G>A c.(2017-2019)gGc>gAc p.G673D PCDHA1_ENST00000378133.3_Missense_Mutation_p.G673D|PCDHA1_ENST00000394633.3_Intron NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGAGAGCGGCCAGGCGCCA 0.657000 3 24 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14982971 14982971 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:14982971G>A ENST00000287667.7 + 29 3514 c.3343G>A c.(3343-3345)Gac>Aac p.D1115N NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1115 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 TGTGCTTCTGGACTCCACACT 0.433000 17 1646 0 0 1 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947012 57947012 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:57947012A>T ENST00000335397.3 + 3 412 c.96A>T c.(94-96)ttA>ttT p.L32F NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) TCTTGTTTTTATTTATGTATC 0.448000 11 527 0 0 1 0 0 SART1 9092 broad.mit.edu 37 11 65746286 65746286 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:65746286G>A ENST00000312397.5 + 19 2377 c.2285G>A c.(2284-2286)aGc>aAc p.S762N NM_005146.4 NP_005137.1 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T cells 762 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 ATGAGCTCCAGCGACACGCCC 0.672000 5 622 0 0 1 0 0 C17orf58 284018 broad.mit.edu 37 17 65989118 65989118 + Missense_Mutation SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:65989118T>C ENST00000536693.1 - 1 550 c.145A>G c.(145-147)Acc>Gcc p.T49A C17orf58_ENST00000334461.7_Missense_Mutation_p.T49A|C17orf58_ENST00000449250.2_Intron Q2M2W7 CQ058_HUMAN chromosome 17 open reading frame 58 0 lung(2) 2 all_cancers(12;4.57e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) CAAACGGTGGTATAAAGTACA 0.498000 3 67 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169565309 169565309 + Missense_Mutation SNP G G C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:169565309G>C ENST00000263686.6 - 12 1992 c.1955C>G c.(1954-1956)aCc>aGc p.T652S SELP_ENST00000367792.2_Missense_Mutation_p.T468S|SELP_ENST00000367793.2_Missense_Mutation_p.T590S|SELP_ENST00000367794.2_Missense_Mutation_p.T590S|SELP_ENST00000367788.2_Missense_Mutation_p.T590S|SELP_ENST00000458599.2_Missense_Mutation_p.T468S|SELP_ENST00000367786.2_Missense_Mutation_p.T590S|SELP_ENST00000367791.2_Missense_Mutation_p.T466S NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 652 Sushi 8. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) ACAGTACATGGTTCCCTGCCC 0.502000 5 625 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42276720 42276720 + Splice_Site SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:42276720G>T ENST00000361204.4 + 10 1928 c.1761_splice c.e10-1 p.G588_splice NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 588 cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TACTTTGTAGGGAGATTTTGC 0.542000 5 441 0.000602214 0.000627624 1 1 0 RAB5B 5869 broad.mit.edu 37 12 56383757 56383757 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:56383757C>T ENST00000360299.5 + 3 411 c.190C>T c.(190-192)Cta>Tta p.L64L RAB5B_ENST00000553116.1_Silent_p.L64L|RAB5B_ENST00000448789.2_Silent_p.L64L NM_002868.3 NP_002859.1 P61020 RAB5B_HUMAN RAB5B, member RAS oncogene family 64 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|membrane fraction|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1) 9 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) GTCCGTTTGTCTAGATGACAC 0.532000 4 317 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33135305 33135305 + Nonsense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:33135305G>A ENST00000306065.4 - 5 609 c.451C>T c.(451-453)Cga>Tga p.R151* ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.R151*|ANKRD27_ENST00000586693.2_5'UTR NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 151 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) CTGTCAAATCGCTCGGAGTGT 0.493000 8 1176 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67107007 67107007 + Nonsense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:67107007A>T ENST00000284425.2 - 17 2381 c.2207T>A c.(2206-2208)tTa>tAa p.L736* NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 736 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) TTCTGTTTTTAATTTAGCATC 0.299000 4 121 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5021920 5021920 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:5021920A>G ENST00000382545.3 + 2 2483 c.1376A>G c.(1375-1377)gAg>gGg p.E459G KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 459 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GAGATCGAAGAGGATATGAAT 0.458000 4 307 0 0 1 0 0 WFDC8 90199 broad.mit.edu 37 20 44181832 44181832 + Nonsense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr20:44181832G>A ENST00000357199.4 - 5 607 c.529C>T c.(529-531)Cag>Tag p.Q177* WFDC8_ENST00000289953.2_Nonsense_Mutation_p.Q177* NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 177 WAP 2. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) TTGTCTGTCTGGGGACAATCG 0.473000 4 368 0 0 1 0 0 NOB1 28987 broad.mit.edu 37 16 69782875 69782875 + Silent SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:69782875A>G ENST00000268802.5 - 6 701 c.672T>C c.(670-672)tgT>tgC p.C224C NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 224 nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CGGGGACGTCACACTGCTCCA 0.597000 4 91 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133244227 133244227 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:133244227G>A ENST00000320574.5 - 20 2224 c.2181C>T c.(2179-2181)tgC>tgT p.C727C POLE_ENST00000535270.1_Silent_p.C700C NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 727 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) AGGCTTTCCGGCAGTAATCTA 0.572000 DNA polymerases (catalytic subunits) 4 271 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18379546 18379546 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:18379546G>A ENST00000441493.2 - 8 1502 c.1150C>T c.(1150-1152)Cgg>Tgg p.R384W MICAL3_ENST00000444520.1_Missense_Mutation_p.R384W|MICAL3_ENST00000207726.7_Missense_Mutation_p.R384W|MICAL3_ENST00000414725.2_Missense_Mutation_p.R384W|MICAL3_ENST00000383094.3_Missense_Mutation_p.R384W|MICAL3_ENST00000400561.2_Missense_Mutation_p.R384W|MICAL3_ENST00000585038.1_Missense_Mutation_p.R384W|MICAL3_ENST00000429452.1_Missense_Mutation_p.R384W NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 384 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) TTCTGCTCCCGCACCAAGGCG 0.562000 OREG0026285 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 226 0 0 1 0 0 NMT2 9397 broad.mit.edu 37 10 15161374 15161374 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:15161374G>A ENST00000378165.4 - 9 1218 c.1138C>T c.(1138-1140)Cgg>Tgg p.R380W NMT2_ENST00000535341.1_Missense_Mutation_p.R367W|NMT2_ENST00000540259.1_Missense_Mutation_p.R192W|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.R367W NM_004808.2 NP_004799.1 O60551 NMT2_HUMAN N-myristoyltransferase 2 380 N-terminal protein myristoylation|protein lipoylation Golgi apparatus|plasma membrane glycylpeptide N-tetradecanoyltransferase activity breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3) 21 ATGTGCTCCCGGGGGAGGAAC 0.448000 8 510 0 0 1 0 0 DGKE 8526 broad.mit.edu 37 17 54921397 54921397 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:54921397A>G ENST00000284061.3 + 3 662 c.482A>G c.(481-483)aAa>aGa p.K161R DGKE_ENST00000576869.1_3'UTR NM_003647.2 NP_003638.1 P52429 DGKE_HUMAN diacylglycerol kinase, epsilon 64kDa 161 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) TGGTGCCAGAAAACAGTACAT 0.308000 4 68 0 0 1 0 0 ACSL1 2180 broad.mit.edu 37 4 185687852 185687852 + Missense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr4:185687852C>A ENST00000515030.1 - 13 1512 c.1187G>T c.(1186-1188)aGg>aTg p.R396M ACSL1_ENST00000513317.1_Missense_Mutation_p.R396M|ACSL1_ENST00000437665.3_Missense_Mutation_p.R225M|ACSL1_ENST00000281455.2_Missense_Mutation_p.R396M|ACSL1_ENST00000504342.1_Missense_Mutation_p.R396M|ACSL1_ENST00000507295.1_Missense_Mutation_p.R362M|ACSL1_ENST00000454703.2_Missense_Mutation_p.R225M P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 396 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGCTTCTTTCCTCTTGGAGGC 0.498000 62 409 1.95512e-22 2.33292e-22 1 1 0 DBNL 28988 broad.mit.edu 37 7 44099010 44099010 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:44099010G>T ENST00000494774.1 + 10 917 c.896G>T c.(895-897)gGc>gTc p.G299V DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Missense_Mutation_p.G204V|DBNL_ENST00000440166.1_Missense_Mutation_p.G195V|DBNL_ENST00000452943.1_Missense_Mutation_p.G274V|DBNL_ENST00000468694.1_Missense_Mutation_p.G307V|DBNL_ENST00000456905.1_Missense_Mutation_p.G250V|DBNL_ENST00000448521.1_Missense_Mutation_p.G298V NM_014063.6 NP_054782.2 Q9UJU6 DBNL_HUMAN drebrin-like 298 activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1) 12 ACCCACTTTGGCAGAGAGCCA 0.592000 8 64 1.26484e-09 1.43971e-09 1 1 0 JKAMP 51528 broad.mit.edu 37 14 59954452 59954452 + Missense_Mutation SNP C C G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:59954452C>G ENST00000554271.1 + 3 725 c.199C>G c.(199-201)Cct>Gct p.P67A JKAMP_ENST00000425728.2_Missense_Mutation_p.P47A|JKAMP_ENST00000261247.9_Missense_Mutation_p.P53A|JKAMP_ENST00000557560.1_3'UTR|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000556985.1_Missense_Mutation_p.P53A|JKAMP_ENST00000356057.5_Missense_Mutation_p.P61A Q9P055 JKAMP_HUMAN JNK1/MAPK8-associated membrane protein 68 ER-associated protein catabolic process|response to unfolded protein endoplasmic reticulum membrane|integral to membrane ubiquitin protein ligase binding p.P61A(1)|p.P63A(1) breast(1)|endometrium(1)|kidney(1)|lung(3) 6 CACAGAATCTCCTGAACTTTA 0.373000 155 463 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115085414 115085414 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:115085414A>T ENST00000542447.2 - 7 1036 c.908T>A c.(907-909)cTa>cAa p.L303Q CADM1_ENST00000331581.6_Missense_Mutation_p.L303Q|CADM1_ENST00000537058.1_Missense_Mutation_p.L303Q|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Missense_Mutation_p.L303Q|CADM1_ENST00000536727.1_Missense_Mutation_p.L303Q NM_001098517.1 NP_001091987.1 Q9BY67 CADM1_HUMAN cell adhesion molecule 1 303 Ig-like C2-type 2. adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) TGTTTTGTTTAGGTTATTGAT 0.468000 5 254 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123540242 123540242 + Missense_Mutation SNP C C G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chrX:123540242C>G ENST00000422452.2 - 26 5143 c.5080G>C c.(5080-5082)Gat>Cat p.D1694H STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.D1687H NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 p.D1689H(1) TTGGAAGTATCTAGCTCCACT 0.458000 6 209 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69381029 69381029 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr8:69381029G>A ENST00000337103.4 + 3 1969 c.377G>A c.(376-378)gGg>gAg p.G126E C8orf34_ENST00000539993.1_Missense_Mutation_p.G151E|C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000348340.2_Missense_Mutation_p.G151E|C8orf34_ENST00000518698.1_Missense_Mutation_p.G237E Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 151 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) AAGAAGCTGGGGAAAGCCCTT 0.408000 6 124 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169801269 169801269 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:169801269G>A ENST00000263817.6 - 21 2580 c.2456C>T c.(2455-2457)gCc>gTc p.A819V NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 819 ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TTTAGCAAAGGCATATCCCTA 0.363000 4 178 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47403749 47403749 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:47403749A>G ENST00000310638.4 - 2 287 c.256T>C c.(256-258)Tgt>Cgt p.C86R CYP4A11_ENST00000371905.1_Missense_Mutation_p.C86R|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.C86R NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 86 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding p.C86R(1) endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) CAATGAGGACAGGCACTTGGG 0.493000 44 283 0 0 1 0 0 RDH16 8608 broad.mit.edu 37 12 57351183 57351183 + Nonsense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:57351183G>A ENST00000398138.3 - 1 920 c.64C>T c.(64-66)Cag>Tag p.Q22* RDH16_ENST00000360752.4_5'UTR NM_003708.3 NP_003699.3 O75452 RDH16_HUMAN retinol dehydrogenase 16 (all-trans) 22 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 CTCAGCACCTGCCTCTCCCGG 0.587000 7 215 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61546362 61546362 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:61546362A>T ENST00000398571.2 - 22 3190 c.3114T>A c.(3112-3114)agT>agA p.S1038R NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1038 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) GTTGATCTTTACTTCGAACTT 0.338000 4 94 0 0 1 0 0 GNAZ 2781 broad.mit.edu 37 22 23465467 23465467 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:23465467G>A ENST00000248996.4 + 3 1583 c.917G>A c.(916-918)cGg>cAg p.R306Q RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 306 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) TACATCCAGCGGCAGTTTGAA 0.577000 5 444 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140869551 140869551 + Silent SNP T T A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:140869551T>A ENST00000252087.1 + 1 744 c.744T>A c.(742-744)cgT>cgA p.R248R PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 248 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R248R(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTTCTACGTGTGGGAATCC 0.542000 149 304 0 0 1 0 0 ASL 435 broad.mit.edu 37 7 65557820 65557820 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:65557820C>T ENST00000304874.9 + 17 1418 c.1316C>T c.(1315-1317)gCc>gTc p.A439V ASL_ENST00000395332.3_Missense_Mutation_p.A439V|ASL_ENST00000380839.4_Missense_Mutation_p.A413V|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395331.3_Missense_Mutation_p.A419V|AC068533.7_ENST00000450043.1_Intron NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 439 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) CAGTATGGTGCCCTGGGCGGC 0.692000 5 409 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24874692 24874692 + Nonsense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:24874692G>T ENST00000396432.2 - 26 5012 c.4526C>A c.(4525-4527)tCa>tAa p.S1509* NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1508 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GTTGTGTTTTGAGTTGTGTGG 0.488000 8 845 6.5536e-12 7.59971e-12 1 1 0 GALNT18 374378 broad.mit.edu 37 11 11292739 11292739 + Silent SNP C C T rs140917604 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:11292739C>T ENST00000227756.4 - 11 2187 c.1776G>A c.(1774-1776)tcG>tcA p.S592S NM_198516.2 NP_940918.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 AGTGCTGGCCCGAGCACTTCT 0.617000 7 485 0 0 1 0 0 PRKAG1 5571 broad.mit.edu 37 12 49397067 49397067 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:49397067C>T ENST00000548065.1 - 11 1204 c.748G>A c.(748-750)Gca>Aca p.A250T RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.A199T|PRKAG1_ENST00000395170.3_Missense_Mutation_p.A166T|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.A259T|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.A218T|RP11-386G11.5_ENST00000552284.1_RNA P54619 AAKG1_HUMAN protein kinase, AMP-activated, gamma 1 non-catalytic subunit 250 CBS 3. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 9 TTTTCTGCTGCCAGATTCTGG 0.493000 6 899 0 0 1 0 0 MICU1 10367 broad.mit.edu 37 10 74128087 74128087 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:74128087A>G ENST00000398761.4 - 14 1435 c.1303T>C c.(1303-1305)Ttt>Ctt p.F435L MICU1_ENST00000401998.3_Missense_Mutation_p.F433L|MICU1_ENST00000361114.5_Missense_Mutation_p.F433L|MICU1_ENST00000418483.2_Missense_Mutation_p.F235L|MICU1_ENST00000398763.4_Missense_Mutation_p.F235L Q9BPX6 MICU1_HUMAN mitochondrial calcium uptake 1 433 EF-hand 2. calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding p.F435L(1) ATGGAAACAAATTCCTTATTG 0.473000 26 155 0 0 1 0 0 IQCB1 9657 broad.mit.edu 37 3 121489343 121489343 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr3:121489343G>A ENST00000310864.6 - 15 1860 c.1646C>T c.(1645-1647)gCc>gTc p.A549V IQCB1_ENST00000349820.6_Missense_Mutation_p.A416V NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 549 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) GGCCTGCTTGGCCTTGGCTGC 0.502000 5 474 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70989907 70989907 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:70989907G>A ENST00000256389.3 - 2 1962 c.1718C>T c.(1717-1719)gCa>gTa p.A573V RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 523 Cys-rich. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TGCACTCCTTGCATCTTGGCC 0.418000 9 909 0 0 1 0 0 DIO1 1733 broad.mit.edu 37 1 54360160 54360160 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:54360160C>T ENST00000361921.3 + 1 301 c.277C>T c.(277-279)Cca>Tca p.P93S DIO1_ENST00000525202.1_Intron|DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000388876.3_Missense_Mutation_p.P93S|DIO1_ENST00000322679.6_Missense_Mutation_p.P93S|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Missense_Mutation_p.P93S NM_000792.5|NM_213593.3 NP_000783.2|NP_998758.1 P49895 IOD1_HUMAN deiodinase, iodothyronine, type I 93 hormone biosynthetic process|thyroid hormone generation endoplasmic reticulum membrane|integral to membrane|plasma membrane selenium binding|thyroxine 5'-deiodinase activity cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1) 9 GGGTCTGGCCCCAAACTGCCC 0.547000 26 192 0 0 1 0 0 GALNT2 2590 broad.mit.edu 37 1 230381811 230381811 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:230381811C>T ENST00000366672.4 + 8 804 c.732C>T c.(730-732)gaC>gaT p.D244D GALNT2_ENST00000543760.1_Silent_p.D206D|GALNT2_ENST00000541865.1_Silent_p.D154D NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 244 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) TATTTTAGGACAGGACTCGGG 0.458000 7 279 0 0 1 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15444098 15444098 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr4:15444098C>T ENST00000295297.4 + 3 825 c.566C>T c.(565-567)aCa>aTa p.T189I C1QTNF7_ENST00000444304.2_Missense_Mutation_p.T182I|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.T182I NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 182 C1q. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 AACCCTGCCACAGGGAAGTTC 0.443000 5 685 0 0 1 0 0 DTX3 196403 broad.mit.edu 37 12 58002934 58002934 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:58002934G>A ENST00000548198.1 + 5 2547 c.1043G>A c.(1042-1044)tGa>tAa p.*348* DTX3_ENST00000337737.3_Silent_p.*348*|DTX3_ENST00000551632.1_Silent_p.*351*|DTX3_ENST00000548804.1_Silent_p.*348* Q8N9I9 DTX3_HUMAN deltex homolog 3 (Drosophila) 0 Notch signaling pathway cytoplasm zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1) 12 Melanoma(17;0.122) ACAGATGACTGAAGGACATCG 0.592000 11 134 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135042 156135042 + Splice_Site SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr4:156135042A>T ENST00000329476.3 + 2 441 c.e2-1 NPY2R_ENST00000506608.1_Splice_Site NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) ttTTCTTTTTAGGTTGTAGAC 0.398000 4 70 0 0 1 0 0 CNBP 7555 broad.mit.edu 37 3 128889301 128889301 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr3:128889301C>T ENST00000422453.2 - 5 689 c.529G>A c.(529-531)Gcc>Acc p.A177T CNBP_ENST00000451728.2_Missense_Mutation_p.A178T|CNBP_ENST00000441626.2_Missense_Mutation_p.A179T|CNBP_ENST00000504813.1_Missense_Mutation_p.A167T|CNBP_ENST00000500450.2_Missense_Mutation_p.A160T|CNBP_ENST00000502976.1_Missense_Mutation_p.A170T|CNBP_ENST00000446936.2_Missense_Mutation_p.A172T NM_001127192.1|NM_001127193.1|NM_003418.4 NP_001120664.1|NP_001120665.1|NP_003409.1 P62633 CNBP_HUMAN CCHC-type zinc finger, nucleic acid binding protein 177 cholesterol biosynthetic process endoplasmic reticulum DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding biliary_tract(1)|endometrium(1)|kidney(1)|lung(2) 5 AATAATTAGGCTGTAGCCTCA 0.468000 7 472 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238274619 238274619 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:238274619C>T ENST00000295550.4 - 12 6012 c.5560G>A c.(5560-5562)Gcc>Acc p.A1854T COL6A3_ENST00000353578.4_Missense_Mutation_p.A1648T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1247T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1654T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1648T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1653T NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1854 Nonhelical region.|VWFA 10. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCCTTCTGGGCCACAAAAACA 0.547000 4 146 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72856668 72856668 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:72856668A>G ENST00000339594.4 - 19 4648 c.4310T>C c.(4309-4311)gTg>gCg p.V1437A BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1437A NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 1437 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding p.V1437A(1) NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) CAACAGAGCCACTAGACACTG 0.493000 13 138 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26492018 26492018 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:26492018G>A ENST00000265944.5 + 34 4878 c.4712G>A c.(4711-4713)tGt>tAt p.C1571Y MYO3A_ENST00000543632.1_Intron|MYO3A_ENST00000478093.1_3'UTR NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1571 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CAGAATCAATGTATTAAGGCT 0.318000 32 145 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147009293 147009293 + Missense_Mutation SNP T T G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:147009293T>G ENST00000265272.5 - 15 2359 c.1892A>C c.(1891-1893)gAt>gCt p.D631A JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D589A|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D610A NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 631 Golgi apparatus p.D631A(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) CTTTATGAGATCAGGGATGTT 0.383000 14 60 0 0 1 0 0 S100PBP 64766 broad.mit.edu 37 1 33318709 33318709 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:33318709G>A ENST00000373475.5 + 6 1308 c.1054G>A c.(1054-1056)Gat>Aat p.D352N S100PBP_ENST00000373476.1_Missense_Mutation_p.D352N NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 352 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TGCCTTGATGGATCAAGTTCA 0.488000 6 560 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76430098 76430098 + Missense_Mutation SNP T T A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr15:76430098T>A ENST00000388942.3 + 3 365 c.89T>A c.(88-90)gTa>gAa p.V30E NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 30 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 TCCCAACAAGTAGACGAAGAA 0.527000 6 416 0 0 1 0 0 TBX1 6899 broad.mit.edu 37 22 19766760 19766760 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:19766760G>T ENST00000329705.7 + 9 1156 c.1027G>T c.(1027-1029)Gac>Tac p.D343Y TBX1_ENST00000359500.3_Intron NM_080646.1 NP_542377.1 O43435 TBX1_HUMAN T-box 1 343 embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development nucleus protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|lung(3)|ovary(2) 8 Colorectal(54;0.0993) all_lung(157;3.05e-06) TGTCCTGAAGGACAAGGAAGT 0.537000 19 148 3.51602e-12 4.09649e-12 1 1 0 FAM208B 54906 broad.mit.edu 37 10 5790396 5790396 + Missense_Mutation SNP T T G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:5790396T>G ENST00000328090.5 + 15 5637 c.5012T>G c.(5011-5013)gTa>gGa p.V1671G NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1671 p.V1671G(1) ACCCATTATGTAAGACCAATA 0.468000 8 76 0 0 1 0 0 VAPB 9217 broad.mit.edu 37 20 57015985 57015985 + Missense_Mutation SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr20:57015985T>C ENST00000475243.1 + 5 757 c.419T>C c.(418-420)aTt>aCt p.I140T VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Intron NM_004738.4 NP_004729.1 O95292 VAPB_HUMAN VAMP (vesicle-associated membrane protein)-associated protein B and C 140 cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction endoplasmic reticulum membrane|Golgi apparatus|integral to membrane beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity p.I140T(1) kidney(2)|lung(3)|prostate(1) 6 Lung NSC(12;0.000615)|all_lung(29;0.00186) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07) ATAAATAAAATTATATCCACA 0.338000 78 155 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87966445 87966445 + Missense_Mutation SNP T T A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:87966445T>A ENST00000369577.3 + 8 3141 c.3098T>A c.(3097-3099)gTg>gAg p.V1033E ZNF292_ENST00000339907.4_Missense_Mutation_p.V1028E NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1033 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V1033E(1)|p.V888E(1) 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) ACCTTTTCTGTGCAAAATCAG 0.323000 14 87 0 0 1 0 0 STAT2 6773 broad.mit.edu 37 12 56737274 56737274 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:56737274C>T ENST00000314128.4 - 24 2478 c.2455G>A c.(2455-2457)Ggt>Agt p.G819S STAT2_ENST00000557235.1_Missense_Mutation_p.G815S|STAT2_ENST00000556539.1_5'UTR P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 819 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 AGTGGGTCACCATTCGGCATG 0.502000 39 169 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369991 20369991 + RNA SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:20369991T>C ENST00000593655.1 - 0 199 GTCATCACGGTTGAAACGAGA 0.413000 17 117 0 0 1 0 0 PSMD6 9861 broad.mit.edu 37 3 64007994 64007994 + Splice_Site SNP T T G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr3:64007994T>G ENST00000492933.1 - 3 562 c.510_splice c.e3+1 p.K170_splice PSMD6_ENST00000482510.1_Splice_Site_p.K78_splice|PSMD6_ENST00000394431.2_Splice_Site_p.K79_splice|PSMD6_ENST00000295901.4_Splice_Site_p.K117_splice NM_001271779.1 NP_001258708.1 Q15008 PSMD6_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 117 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of 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 proteasome complex ATPase activity|protein binding p.K117N(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1) 13 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212) CTCTACTCACTTTGTCACCTA 0.423000 90 219 0 0 1 0 0 ISL1 3670 broad.mit.edu 37 5 50680408 50680408 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:50680408G>A ENST00000230658.7 + 2 647 c.62G>A c.(61-63)gGc>gAc p.G21D ISL1_ENST00000511384.1_Missense_Mutation_p.G21D NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 21 LIM zinc-binding 1. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) GTTGGTTGCGGCAATCAGATT 0.393000 4 315 0 0 1 0 0 IBTK 25998 broad.mit.edu 37 6 82933226 82933226 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:82933226G>T ENST00000306270.7 - 8 1604 c.1055C>A c.(1054-1056)aCa>aAa p.T352K IBTK_ENST00000510291.1_Missense_Mutation_p.T352K|IBTK_ENST00000503631.1_Missense_Mutation_p.T352K NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 352 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) AACACAGACTGTAGCTCCATC 0.428000 5 82 1.23904e-05 1.33643e-05 1 1 0 BMS1P20 96610 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 5 127 0 0 1 0 0 NSDHL 50814 broad.mit.edu 37 X 152037392 152037392 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chrX:152037392G>A ENST00000370274.3 + 8 1048 c.854G>A c.(853-855)gGc>gAc p.G285D NSDHL_ENST00000440023.1_Missense_Mutation_p.G285D NM_015922.2 NP_057006.1 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 285 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5) 15 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) ATCCTGACAGGCCTCAATTAT 0.532000 7 420 0 0 1 0 0 PAPD5 64282 broad.mit.edu 37 16 50257083 50257083 + Splice_Site SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:50257083A>T ENST00000357464.3 + 8 885 c.e8-1 PAPD5_ENST00000436909.3_Splice_Site|PAPD5_ENST00000561678.1_Splice_Site|PAPD5_ENST00000573002.1_Splice_Site Q8NDF8 PAPD5_HUMAN PAP associated domain containing 5 cell division|DNA replication|histone mRNA catabolic process|mitosis cytoplasm|nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(1)|lung(2) 4 all_cancers(37;0.0452) BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231) TTCTGCTTTTAGTTACATCCC 0.289000 6 129 0 0 1 0 0 ANKRD20A5P 440482 broad.mit.edu 37 18 14184292 14184292 + RNA SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr18:14184292C>T ENST00000581935.1 + 0 981 lung(3) 3 CTTTATAAAACGCACTTTGGA 0.279000 10 8 0 0 1 0 0 ZFX 7543 broad.mit.edu 37 X 24197445 24197445 + Silent SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chrX:24197445T>C ENST00000379177.1 + 6 631 c.204T>C c.(202-204)atT>atC p.I68I ZFX_ENST00000379188.3_Silent_p.I68I|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000338565.3_Silent_p.I68I|ZFX_ENST00000304543.5_Silent_p.I68I|ZFX_ENST00000540034.1_Silent_p.I107I NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 AAGATGTTATTGAGGACGTTG 0.403000 4 254 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106975178 106975178 + Splice_Site SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:106975178A>T ENST00000369066.3 + 5 3675 c.e5-1 NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) TTTTATTGTTAGTTGGATTTT 0.358000 7 210 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48511107 48511107 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:48511107A>T ENST00000446524.1 + 1 839 c.763A>T c.(763-765)Atg>Ttg p.M255L NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 TTGTATTTTTATGTATGCTAG 0.428000 9 620 0 0 1 0 0 BAIAP2L1 55971 broad.mit.edu 37 7 97949408 97949408 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:97949408G>A ENST00000005260.8 - 5 525 c.310C>T c.(310-312)Ctg>Ttg p.L104L BAIAP2L1_ENST00000462558.1_5'UTR NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 104 IMD. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) TTCTTCTCCAGCTCATGGATA 0.403000 5 933 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48221210 48221210 + Silent SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:48221210G>T ENST00000394747.1 - 20 3184 c.2835C>A c.(2833-2835)tcC>tcA p.S945S ABCC11_ENST00000356608.2_Silent_p.S945S|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.S945S|ABCC11_ENST00000353782.5_Silent_p.S945S NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 945 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TCACCATTAAGGACAGGACCA 0.468000 8 169 1.06961e-07 1.19545e-07 1 1 0 C9orf64 84267 broad.mit.edu 37 9 86571165 86571165 + Missense_Mutation SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:86571165T>C ENST00000376344.3 - 1 467 c.251A>G c.(250-252)gAg>gGg p.E84G C9orf64_ENST00000376340.2_5'UTR|C9orf64_ENST00000314700.1_5'UTR NM_032307.3 NP_115683.3 Q5T6V5 CI064_HUMAN chromosome 9 open reading frame 64 84 central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 ACACTTGTGCTCGTCCTGCTC 0.597000 4 365 0 0 1 0 0 DIO1 1733 broad.mit.edu 37 1 54360161 54360161 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:54360161C>T ENST00000361921.3 + 1 302 c.278C>T c.(277-279)cCa>cTa p.P93L DIO1_ENST00000525202.1_Intron|DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000388876.3_Missense_Mutation_p.P93L|DIO1_ENST00000322679.6_Missense_Mutation_p.P93L|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Missense_Mutation_p.P93L NM_000792.5|NM_213593.3 NP_000783.2|NP_998758.1 P49895 IOD1_HUMAN deiodinase, iodothyronine, type I 93 hormone biosynthetic process|thyroid hormone generation endoplasmic reticulum membrane|integral to membrane|plasma membrane selenium binding|thyroxine 5'-deiodinase activity cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1) 9 GGTCTGGCCCCAAACTGCCCG 0.547000 25 190 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32032046 32032046 + Missense_Mutation SNP G G A rs143925165 by1000genomes TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr3:32032046G>A ENST00000360311.4 + 2 2024 c.1475G>A c.(1474-1476)cGt>cAt p.R492H NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCGTCACAATTCA 0.403000 3 94 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627366 21627366 + Missense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chrX:21627366C>A ENST00000425654.2 + 19 2713 c.2233C>A c.(2233-2235)Cca>Aca p.P745T CNKSR2_ENST00000543067.1_Missense_Mutation_p.P726T|CNKSR2_ENST00000379510.3_Missense_Mutation_p.P775T|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P775T NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 775 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 AATTGAGACGCCACTGACAAG 0.562000 22 172 2.44723e-14 2.89218e-14 1 1 0 DNAH11 8701 broad.mit.edu 37 7 21892083 21892083 + Splice_Site SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:21892083A>T ENST00000328843.6 + 68 10948 c.e68-1 DNAH11_ENST00000409508.3_Splice_Site Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GGTTTTTATTAGTTGGTATTG 0.403000 Kartagener syndrome 10 103 0 0 1 0 0 DCAF11 80344 broad.mit.edu 37 14 24587957 24587957 + Splice_Site SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:24587957A>T ENST00000446197.3 + 8 1451 c.e8-1 DCAF11_ENST00000396936.1_Splice_Site|DCAF11_ENST00000396941.4_Splice_Site|DCAF11_ENST00000559115.1_Splice_Site NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 CUL4 RING ubiquitin ligase complex protein binding TGCTTCTCTTAGTTCATATCT 0.463000 8 636 0 0 1 0 0 CHRNB2 1141 broad.mit.edu 37 1 154544277 154544277 + Silent SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:154544277C>A ENST00000368476.3 + 5 1242 c.978C>A c.(976-978)ccC>ccA p.P326P NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) 326 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) ACCGCTCGCCCACCACGCACA 0.632000 6 151 0.0293803 0.0294998 1 1 0 FN1 2335 broad.mit.edu 37 2 216236992 216236992 + Silent SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:216236992C>A ENST00000354785.4 - 40 6723 c.6354G>T c.(6352-6354)ggG>ggT p.G2118G FN1_ENST00000359671.1_Silent_p.G2027G|FN1_ENST00000357867.4_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Silent_p.G1937G|FN1_ENST00000346544.3_Intron|FN1_ENST00000345488.5_Intron|FN1_ENST00000336916.4_Silent_p.G2027G|FN1_ENST00000443816.1_Silent_p.G1937G|FN1_ENST00000432072.2_Intron|FN1_ENST00000421182.1_Silent_p.G1912G|FN1_ENST00000323926.6_Silent_p.G2118G|FN1_ENST00000446046.1_Silent_p.G2002G P02751 FINC_HUMAN fibronectin 1 2027 Fibronectin type-III 16. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding p.G2027G(1)|p.G2118G(1) FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGTGTCATACCCAGGGTGGG 0.498000 67 104 1.34159e-35 1.60861e-35 1 1 0 C22orf42 150297 broad.mit.edu 37 22 32546391 32546391 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:32546391A>G ENST00000382097.3 - 7 641 c.569T>C c.(568-570)cTa>cCa p.L190P NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 190 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 AGAGACAGATAGGCTTTCACT 0.438000 4 194 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11485944 11485944 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:11485944A>T ENST00000423059.3 - 13 3059 c.2808T>A c.(2806-2808)agT>agA p.S936R AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 936 TSP type-1 9. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CCTTCTTTTTACTTTTTCCTG 0.338000 HNSCC(18;0.044) 5 247 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70462203 70462203 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chrX:70462203C>T ENST00000373998.1 - 23 4280 c.3583G>A c.(3583-3585)Gtc>Atc p.V1195I ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Missense_Mutation_p.V1207I|ZMYM3_ENST00000314425.5_Missense_Mutation_p.V1207I|ZMYM3_ENST00000373988.1_Missense_Mutation_p.V1209I|ZMYM3_ENST00000373984.3_Intron NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 1207 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TTGAGGAGGACAAAGGGCGAG 0.537000 19 174 0 0 1 0 0 SLC29A1 2030 broad.mit.edu 37 6 44198568 44198568 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:44198568G>A ENST00000393841.1 + 9 1199 c.708G>A c.(706-708)caG>caA p.Q236Q SLC29A1_ENST00000393844.1_Silent_p.Q236Q|SLC29A1_ENST00000371755.3_Silent_p.Q236Q|SLC29A1_ENST00000371731.1_Silent_p.Q236Q|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Silent_p.Q236Q|SLC29A1_ENST00000313248.7_Silent_p.Q315Q|SLC29A1_ENST00000371740.5_Silent_p.Q236Q|SLC29A1_ENST00000371713.1_Silent_p.Q236Q|SLC29A1_ENST00000371724.1_Silent_p.Q236Q|SLC29A1_ENST00000427851.2_Silent_p.Q236Q NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 236 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) GCTACTACCAGCAGCTCAAGC 0.542000 4 352 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48852194 48852194 + Nonsense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr8:48852194G>A ENST00000314191.2 - 11 1086 c.1030C>T c.(1030-1032)Cag>Tag p.Q344* PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q344*|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 344 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CCATAAAACTGCTCCATAAAG 0.318000 Non-homologous end-joining 4 65 0 0 1 0 0 AIFM2 84883 broad.mit.edu 37 10 71876416 71876416 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:71876416C>T ENST00000307864.1 - 7 944 c.731G>A c.(730-732)gGc>gAc p.G244D AIFM2_ENST00000482166.1_5'UTR|AIFM2_ENST00000373248.1_Missense_Mutation_p.G244D NM_001198696.1|NM_032797.5 NP_001185625.1|NP_116186.1 Q9BRQ8 AIFM2_HUMAN apoptosis-inducing factor, mitochondrion-associated, 2 244 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2) 16 GATCTTGATGCCGGTGCAGAG 0.567000 OREG0020234 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 248 0 0 1 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443935 5443935 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:5443935C>T ENST00000300778.4 + 1 595 c.505C>T c.(505-507)Cct>Tct p.P169S HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAAGCGACTGCCTTTCTGCCA 0.517000 7 695 0 0 1 0 0 RRM1 6240 broad.mit.edu 37 11 4153518 4153518 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:4153518A>T ENST00000300738.5 + 16 1976 c.1772A>T c.(1771-1773)tAt>tTt p.Y591F RRM1_ENST00000537197.1_Missense_Mutation_p.Y253F|RRM1_ENST00000534285.1_Missense_Mutation_p.Y369F|RRM1_ENST00000423050.2_Missense_Mutation_p.Y494F NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 591 deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) TTCTTTAGGTATGGTATAAGA 0.408000 4 125 0 0 1 0 0 CBL 867 broad.mit.edu 37 11 119149404 119149404 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:119149404A>G ENST00000264033.4 + 9 1788 c.1412A>G c.(1411-1413)aAg>aGg p.K471R NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 471 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) TTCATGATGAAGGAATTGGCT 0.463000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 3 137 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111694794 111694794 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:111694794A>T ENST00000435970.1 - 15 5346 c.4530T>A c.(4528-4530)agT>agA p.S1510R REV3L_ENST00000358835.3_Missense_Mutation_p.S1588R|REV3L_ENST00000368805.1_Missense_Mutation_p.S1588R|REV3L_ENST00000368802.3_Missense_Mutation_p.S1588R O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1588 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TTTGTTTTGTACTTCTGGGAG 0.368000 DNA polymerases (catalytic subunits) 8 426 0 0 1 0 0 LRRN3 54674 broad.mit.edu 37 7 110763992 110763992 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:110763992C>T ENST00000451085.1 + 4 2210 c.1164C>T c.(1162-1164)ttC>ttT p.F388F IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000422987.3_Silent_p.F388F|LRRN3_ENST00000308478.5_Silent_p.F388F|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 388 LRRCT. integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ACATTCGATTCATGGAGCCAG 0.463000 7 187 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124377846 124377846 + Missense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:124377846C>A ENST00000409039.3 + 52 8733 c.8708C>A c.(8707-8709)gCt>gAt p.A2903D NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2903 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGACAGGAAGCTCTGAAGCAA 0.498000 4 175 0.184627 0.184627 1 1 0 KAT8 84148 broad.mit.edu 37 16 31141445 31141445 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:31141445G>A ENST00000543774.2 + 8 1214 c.879G>A c.(877-879)cgG>cgA p.R293R KAT8_ENST00000219797.4_Silent_p.R293R|KAT8_ENST00000448516.2_Silent_p.R293R Q9H7Z6 MYST1_HUMAN K(lysine) acetyltransferase 8 293 histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding AGGTGGACCGGCAGGGGGCCC 0.577000 5 410 0 0 1 0 0 CLC 1178 broad.mit.edu 37 19 40222097 40222097 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:40222097G>A ENST00000221804.4 - 4 427 c.352C>T c.(352-354)Cct>Tct p.P118S NM_001828.5 NP_001819.2 Q05315 LPPL_HUMAN Charcot-Leyden crystal galectin 118 Galectin. lipid catabolic process|multicellular organismal development carboxylesterase activity|lysophospholipase activity|sugar binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1) 12 all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06) Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255) Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23) GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655) ACAGCCTCAGGCTTGATTCTA 0.398000 8 685 0 0 1 0 0 ADGRG6 57211 broad.mit.edu 37 6 142691426 142691426 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:142691426G>A ENST00000230173.6 + 4 1041 c.565G>A c.(565-567)Gca>Aca p.A189T GPR126_ENST00000367608.2_Missense_Mutation_p.A189T|GPR126_ENST00000296932.8_Missense_Mutation_p.A189T|GPR126_ENST00000367609.3_Missense_Mutation_p.A189T|GPR126_ENST00000545477.1_Intron NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 189 Pentaxin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.A189T(1)|p.A188T(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) CTGCTTTGAAGCAACCAAAGT 0.438000 24 97 0 0 1 0 0 ACBD3 64746 broad.mit.edu 37 1 226340280 226340280 + Silent SNP T T G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:226340280T>G ENST00000366812.5 - 7 1185 c.1131A>C c.(1129-1131)cgA>cgC p.R377R RP11-275I14.4_ENST00000440540.1_RNA NM_022735.3 NP_073572.2 Q9H3P7 GCP60_HUMAN acyl-CoA binding domain containing 3 377 steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2) 20 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) TGATCTGAGGTCGTGTCCACA 0.468000 7 259 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155303879 155303879 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr3:155303879C>T ENST00000460012.1 - 5 842 c.485G>A c.(484-486)cGa>cAa p.R162Q PLCH1_ENST00000340059.7_Missense_Mutation_p.R180Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.R162Q|PLCH1_ENST00000494598.1_Missense_Mutation_p.R180Q|PLCH1_ENST00000447496.2_Missense_Mutation_p.R180Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R162Q Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 180 EF-hand 1. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GACTTTTCTTCGGGGCAGATT 0.363000 90 349 0 0 1 0 0 MOCOS 55034 broad.mit.edu 37 18 33795583 33795583 + Silent SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr18:33795583C>A ENST00000261326.5 + 8 1461 c.1440C>A c.(1438-1440)gcC>gcA p.A480A NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 480 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) ATGTCCAGGCCTTTCTTAGGT 0.552000 15 160 8.00594e-06 8.6731e-06 1 1 0 RFX2 5990 broad.mit.edu 37 19 6013023 6013023 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:6013023C>T ENST00000303657.5 - 8 1022 c.873G>A c.(871-873)cgG>cgA p.R291R CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Silent_p.R291R|RFX2_ENST00000592546.1_Silent_p.R266R NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 TGGGCTGCTGCCGCATGGCCA 0.617000 5 372 0 0 1 0 0 STRIP2 57464 broad.mit.edu 37 7 129096278 129096278 + Splice_Site SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:129096278A>T ENST00000249344.2 + 9 874 c.e9-1 STRIP2_ENST00000435494.2_Splice_Site NM_020704.2 NP_065755.1 striatin interacting protein 2 TTTCTTCCTTAGTTTACCCTC 0.517000 7 300 0 0 1 0 0 EGR1 1958 broad.mit.edu 37 5 137802543 137802543 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:137802543C>T ENST00000239938.4 + 2 677 c.405C>T c.(403-405)ggC>ggT p.G135G NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 135 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) CCTATACTGGCCGCTTTTCCC 0.582000 5 92 0 0 1 0 0 PAQR3 152559 broad.mit.edu 37 4 79845029 79845029 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr4:79845029G>T ENST00000512733.1 - 5 988 c.775C>A c.(775-777)Cca>Aca p.P259T PAQR3_ENST00000380645.4_Missense_Mutation_p.P259T|PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000515541.1_Intron NM_001040202.1 NP_001035292.1 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III 259 Golgi membrane|integral to membrane receptor activity breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8 TACCGCTCTGGGACTTTGGAA 0.373000 13 183 6.81908e-15 8.09765e-15 1 1 0 SYTL4 94121 broad.mit.edu 37 X 99955907 99955907 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chrX:99955907C>T ENST00000372981.1 - 5 711 c.525G>A c.(523-525)cgG>cgA p.R175R SYTL4_ENST00000454200.2_Silent_p.R175R|SYTL4_ENST00000276141.6_Silent_p.R175R|SYTL4_ENST00000372989.1_Silent_p.R175R|SYTL4_ENST00000455616.1_Silent_p.R175R|SYTL4_ENST00000263033.5_Silent_p.R175R Q96C24 SYTL4_HUMAN synaptotagmin-like 4 175 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCTCCTTCTGCCGCTCCTGAA 0.383000 4 330 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11411762 11411762 + Missense_Mutation SNP C C G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:11411762C>G ENST00000304623.8 - 5 514 c.325G>C c.(325-327)Ggt>Cgt p.G109R CTNND2_ENST00000503622.1_Missense_Mutation_p.G18R|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.G109R|CTNND2_ENST00000511377.1_Missense_Mutation_p.G18R NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 109 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TCTTTTTGACCATCTGAAATG 0.338000 15 40 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20490520 20490520 + RNA SNP G G A rs71466675 by1000genomes TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr15:20490520G>A ENST00000555186.1 + 0 500 NR_038836.1 ACCTTGTCAAGAAGTTGTTGG 0.433000 4 581 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119024975 119024975 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:119024975C>T ENST00000307417.3 + 4 726 c.362C>T c.(361-363)tCt>tTt p.S121F ABCG4_ENST00000449422.2_Missense_Mutation_p.S121F|ABCG4_ENST00000531739.1_Missense_Mutation_p.S121F NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 121 ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TGCAGGGAGTCTGGAATGAAG 0.542000 5 208 0 0 1 0 0 SIK2 23235 broad.mit.edu 37 11 111591712 111591712 + Missense_Mutation SNP A A C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:111591712A>C ENST00000304987.3 + 12 2043 c.1870A>C c.(1870-1872)Ata>Cta p.I624L NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 624 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.I624L(1) breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 GTATGAACAAATAGGACCGGA 0.507000 3 208 0 0 1 0 0 SLC44A2 57153 broad.mit.edu 37 19 10748947 10748947 + Nonsense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:10748947C>T ENST00000586078.1 + 20 1994 c.1885C>T c.(1885-1887)Cag>Tag p.Q629* SLC44A2_ENST00000335757.5_Nonsense_Mutation_p.Q629*|SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000407327.4_Nonsense_Mutation_p.Q627* NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 629 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) CAGGATCGTGCAGGATACAGC 0.502000 5 558 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155252835 155252835 + Missense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr4:155252835C>A ENST00000357232.3 - 10 2264 c.2265G>T c.(2263-2265)tgG>tgT p.W755C DCHS2_ENST00000339452.1_Intron NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 755 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CACCATCTGCCCAGGTTATGA 0.468000 5 48 0.0215528 0.0219075 1 1 0 PAX7 5081 broad.mit.edu 37 1 18962797 18962797 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:18962797C>T ENST00000420770.2 + 4 601 c.518C>T c.(517-519)gCg>gTg p.A173V PAX7_ENST00000375375.3_Missense_Mutation_p.A173V|PAX7_ENST00000400661.3_Missense_Mutation_p.A171V NM_001135254.1 NP_001128726.1 P23759 PAX7_HUMAN paired box 7 173 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) gaggatgaagcggacaagaag 0.527000 T FOXO1A alveolar rhabdomyosarcoma 4 166 0 0 1 0 0 ETFDH 2110 broad.mit.edu 37 4 159618709 159618709 + Splice_Site SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr4:159618709A>T ENST00000511912.1 + 8 1163 c.e8-1 ETFDH_ENST00000307738.5_Splice_Site NM_004453.2 NP_004444.2 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport integral to mitochondrial inner membrane|mitochondrial matrix 4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3) 28 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) TTTTTTTTTTAGTTATGGGTT 0.348000 4 61 0 0 1 0 0 SCMH1 22955 broad.mit.edu 37 1 41579034 41579034 + Nonsense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:41579034G>T ENST00000402904.2 - 8 1004 c.636C>A c.(634-636)tgC>tgA p.C212* SCMH1_ENST00000326197.7_Nonsense_Mutation_p.C212*|SCMH1_ENST00000397171.2_Nonsense_Mutation_p.C151*|SCMH1_ENST00000397174.2_Nonsense_Mutation_p.C192*|SCMH1_ENST00000372596.1_Nonsense_Mutation_p.C151*|SCMH1_ENST00000337495.5_Nonsense_Mutation_p.C222*|SCMH1_ENST00000361705.3_Nonsense_Mutation_p.C165*|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372595.1_Nonsense_Mutation_p.C151*|SCMH1_ENST00000361191.5_Nonsense_Mutation_p.C151*|SCMH1_ENST00000372597.1_Nonsense_Mutation_p.C165* NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 212 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) AGTCGAAGCGGCACCAGTAGT 0.567000 3 70 2.56e-06 2.79788e-06 1 1 0 BID 637 broad.mit.edu 37 22 18220987 18220987 + Missense_Mutation SNP G G C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:18220987G>C ENST00000317361.7 - 5 836 c.510C>G c.(508-510)aaC>aaG p.N170K BID_ENST00000399767.1_Missense_Mutation_p.N28K|BID_ENST00000473439.1_5'UTR|BID_ENST00000399765.1_Missense_Mutation_p.N28K|BID_ENST00000551952.1_Missense_Mutation_p.N124K|BID_ENST00000399774.3_Missense_Mutation_p.N124K|BID_ENST00000342111.5_3'UTR NM_197966.2 NP_932070.1 P55957 BID_HUMAN BH3 interacting domain death agonist 124 activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria cytosol|membrane fraction|mitochondrial outer membrane death receptor binding p.N170K(1) large_intestine(2)|ovary(1) 3 all_epithelial(15;0.198) Lung(27;0.0419) CCAGGTCCCTGTTCCGGTCCT 0.557000 61 36 0 0 1 0 0 CEBPZ 10153 broad.mit.edu 37 2 37428925 37428925 + Silent SNP A A T rs148813970 by1000genomes TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:37428925A>T ENST00000234170.5 - 16 3292 c.3147T>A c.(3145-3147)acT>acA p.T1049T AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000397226.2_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000397064.2_Intron NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 1049 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) TTTGTTTTTTAGTTTTTTGAG 0.294000 3 21 0 0 1 0 0 FAM65A 79567 broad.mit.edu 37 16 67576514 67576514 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:67576514A>G ENST00000540839.3 + 14 2105 c.1885A>G c.(1885-1887)Acc>Gcc p.T629A FAM65A_ENST00000042381.4_Missense_Mutation_p.T609A|FAM65A_ENST00000379312.3_Missense_Mutation_p.T613A|FAM65A_ENST00000428437.2_Missense_Mutation_p.T623A|FAM65A_ENST00000422602.2_Missense_Mutation_p.T629A|CTD-2012K14.3_ENST00000563083.1_RNA Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 613 Pro-rich. cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) GCCAAGCCCTACCCATACCAC 0.542000 4 183 0 0 1 0 0 METTL8 79828 broad.mit.edu 37 2 172196066 172196066 + Splice_Site SNP T T A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:172196066T>A ENST00000375258.3 - 4 451 c.e4-2 B3KW44 B3KW44_HUMAN methyltransferase like 8 methyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 11 CATACTTAACTAAAATAAAGA 0.269000 4 75 0 0 1 0 0 IL2RB 3560 broad.mit.edu 37 22 37524564 37524564 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:37524564G>A ENST00000216223.5 - 10 1426 c.1228C>T c.(1228-1230)Cct>Tct p.P410S NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 410 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) CCTGACAGAGGCTGCAGGGGT 0.652000 3 38 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111694792 111694792 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:111694792G>T ENST00000435970.1 - 15 5348 c.4532C>A c.(4531-4533)aCa>aAa p.T1511K REV3L_ENST00000358835.3_Missense_Mutation_p.T1589K|REV3L_ENST00000368805.1_Missense_Mutation_p.T1589K|REV3L_ENST00000368802.3_Missense_Mutation_p.T1589K O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1589 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TTTTTGTTTTGTACTTCTGGG 0.373000 DNA polymerases (catalytic subunits) 5 418 1.6384e-10 1.87354e-10 1 1 0 ZSWIM4 65249 broad.mit.edu 37 19 13941432 13941432 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:13941432C>T ENST00000254323.2 + 13 2727 c.2538C>T c.(2536-2538)gaC>gaT p.D846D ZSWIM4_ENST00000440752.2_Silent_p.D680D NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 846 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CCGTCAACGACGTGCTTTGGG 0.667000 7 314 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183495733 183495733 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:183495733A>T ENST00000367537.3 + 6 597 c.402A>T c.(400-402)ttA>ttT p.L134F SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000456731.2_Missense_Mutation_p.L63F|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000507469.1_Missense_Mutation_p.L105F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000347615.2_Missense_Mutation_p.L105F Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 105 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TCTTTTAGTTATTACAAGAAC 0.348000 5 154 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98743472 98743472 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:98743472G>T ENST00000286067.2 + 1 2432 c.2325G>T c.(2323-2325)gaG>gaT p.E775D NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 775 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CCCTAGATGAGGACGATGTTG 0.473000 4 124 2.0095e-06 2.20598e-06 1 1 0 CCDC62 84660 broad.mit.edu 37 12 123273471 123273471 + Missense_Mutation SNP T T A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:123273471T>A ENST00000253079.6 + 5 1009 c.665T>A c.(664-666)cTa>cAa p.L222Q CCDC62_ENST00000392441.4_Missense_Mutation_p.L222Q|CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000537566.1_Intron NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 222 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) GTCAACAAACTAAAAGGTAAG 0.358000 4 111 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1388456 1388456 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr4:1388456G>A ENST00000324803.4 + 1 3117 c.157G>A c.(157-159)Gcc>Acc p.A53T NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 53 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CATGTGGAGTGCCCGCCTGCT 0.642000 25 90 0 0 1 0 0 MLXIPL 51085 broad.mit.edu 37 7 73008695 73008695 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:73008695G>A ENST00000313375.3 - 16 2396 c.2349C>T c.(2347-2349)aaC>aaT p.N783N MLXIPL_ENST00000395189.1_Silent_p.N690N|MLXIPL_ENST00000429400.2_Silent_p.N764N|MLXIPL_ENST00000414749.2_Silent_p.N781N|MLXIPL_ENST00000354613.1_Silent_p.N762N|MLXIPL_ENST00000434326.1_Silent_p.N689N NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 783 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) ACACCATCCCGTTGAAGGACT 0.637000 6 127 0 0 1 0 0 MR1 3140 broad.mit.edu 37 1 181021607 181021607 + Missense_Mutation SNP G G C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:181021607G>C ENST00000367580.5 + 4 846 c.841G>C c.(841-843)Gag>Cag p.E281Q MR1_ENST00000434571.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.E236Q|MR1_ENST00000438435.2_Intron|MR1_ENST00000282990.6_Intron NM_001531.2 NP_001522.1 Q95460 HMR1_HUMAN major histocompatibility complex, class I-related 281 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 18 CTGTCATGTGGAGCACTGCGG 0.547000 12 75 0 0 1 0 0 YPEL1 29799 broad.mit.edu 37 22 22064992 22064992 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:22064992C>T ENST00000339468.3 - 2 425 c.42G>A c.(40-42)ctG>ctA p.L14L YPEL1_ENST00000403503.1_Silent_p.L14L NM_013313.3 NP_037445.1 O60688 YPEL1_HUMAN yippee-like 1 (Drosophila) 14 nucleus breast(1)|large_intestine(1)|lung(1) 3 Colorectal(54;0.105) GACAGTTCGGCAGATACGCTT 0.512000 7 795 0 0 1 0 0 KDM8 79831 broad.mit.edu 37 16 27221579 27221579 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:27221579G>A ENST00000286096.4 + 2 308 c.135G>A c.(133-135)gtG>gtA p.V45V KDM8_ENST00000380948.2_Silent_p.V45V|KDM8_ENST00000568965.1_Silent_p.V45V|KDM8_ENST00000441782.2_Silent_p.V83V NM_024773.2 NP_079049.2 Q8N371 KDM8_HUMAN lysine (K)-specific demethylase 8 45 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen AGAGGAGCGTGGTGACATTGT 0.592000 38 192 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49447312 49447312 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:49447312G>A ENST00000301067.7 - 6 785 c.786C>T c.(784-786)gcC>gcT p.A262A NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.A262D(2)|p.A262A(2)|p.L260fs*8(1) CACGTTTGCGGGCAGTCAGAG 0.577000 11 54 0 0 1 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45484587 45484587 + Nonsense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:45484587G>A ENST00000359600.5 - 14 3302 c.3097C>T c.(3097-3099)Cag>Tag p.Q1033* NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 1033 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TGAGTATCCTGGTTGTAGGCC 0.577000 OREG0013450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 313 0 0 1 0 0 KANSL3 55683 broad.mit.edu 37 2 97297120 97297120 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:97297120C>T ENST00000599854.1 - 3 521 c.54G>A c.(52-54)cgG>cgA p.R18R KANSL3_ENST00000441706.2_Silent_p.R18R|KANSL3_ENST00000435669.1_Silent_p.R18R|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_5'UTR|KANSL3_ENST00000431828.1_Silent_p.R105R NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 105 AGATGACATGCCGTTCACACT 0.527000 3 69 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49447313 49447313 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:49447313G>T ENST00000301067.7 - 6 784 c.785C>A c.(784-786)gCc>gAc p.A262D NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.A262D(4)|p.L260fs*8(1) ACGTTTGCGGGCAGTCAGAGC 0.577000 11 54 6.42651e-13 7.52298e-13 1 1 0 FCAR 2204 broad.mit.edu 37 19 55401088 55401088 + Missense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:55401088C>A ENST00000391723.3 + 4 613 c.613C>A c.(613-615)Ctt>Att p.L205I FCAR_ENST00000359272.4_Silent_p.L229L|FCAR_ENST00000391724.3_Silent_p.L207L|FCAR_ENST00000391726.3_Silent_p.L133L|FCAR_ENST00000391725.3_Silent_p.L219L|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Silent_p.L145L|FCAR_ENST00000355524.3_Silent_p.L241L|FCAR_ENST00000353758.4_Silent_p.L132L NM_133274.2 NP_579808.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 0 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) TCGTGGCTCTCTTGGCCATAC 0.537000 6 322 8.12818e-05 8.65371e-05 1 1 0 DRP2 1821 broad.mit.edu 37 X 100506047 100506047 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chrX:100506047A>G ENST00000395209.3 + 16 2367 c.1840A>G c.(1840-1842)Agg>Ggg p.R614G DRP2_ENST00000538510.1_Missense_Mutation_p.R614G|DRP2_ENST00000402866.1_Missense_Mutation_p.R614G|DRP2_ENST00000541709.1_Missense_Mutation_p.R536G NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 614 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 CTCTATCTGTAGGCAGTGCCC 0.463000 4 332 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25331696 25331696 + RNA SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr15:25331696A>G ENST00000546682.1 + 0 453 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-19_ENST00000384729.1_RNA NR_003361.1 ACTTCCATATATACATTCCTT 0.463000 6 392 0 0 1 0 0 MICU2 221154 broad.mit.edu 37 13 22067484 22067484 + Silent SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr13:22067484T>C ENST00000382374.4 - 12 1274 c.1209A>G c.(1207-1209)caA>caG p.Q403Q MICU2_ENST00000479790.1_5'UTR NM_152726.2 NP_689939.1 mitochondrial calcium uptake 2 p.Q403Q(1) TACTCTGATGTTGTGGTACCT 0.333000 21 85 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39919273 39919273 + Missense_Mutation SNP T T G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:39919273T>G ENST00000393931.3 - 8 1577 c.1459A>C c.(1459-1461)Aag>Cag p.K487Q JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.K487Q|JUP_ENST00000393930.1_Missense_Mutation_p.K487Q NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 487 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity p.K487Q(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) TTGAGCAGCTTCACGATGGCT 0.607000 19 63 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73225581 73225581 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:73225581C>T ENST00000377110.2 - 18 2818 c.2575G>A c.(2575-2577)Ggc>Agc p.G859S TRPM3_ENST00000396292.4_Missense_Mutation_p.G731S|TRPM3_ENST00000423814.3_Missense_Mutation_p.G886S|TRPM3_ENST00000377105.1_Missense_Mutation_p.G718S|TRPM3_ENST00000357533.2_Missense_Mutation_p.G863S|TRPM3_ENST00000408909.2_Missense_Mutation_p.G718S|TRPM3_ENST00000396280.5_Missense_Mutation_p.G708S|TRPM3_ENST00000377111.2_Missense_Mutation_p.G859S|TRPM3_ENST00000377106.1_Missense_Mutation_p.G731S|TRPM3_ENST00000358082.3_Missense_Mutation_p.G721S|TRPM3_ENST00000396285.1_Missense_Mutation_p.G706S|TRPM3_ENST00000360823.2_Missense_Mutation_p.G721S NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 884 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 ATTTTTCTGCCGAGGGGGATT 0.473000 6 623 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196720569 196720569 + Nonsense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:196720569A>T ENST00000312428.6 - 45 8661 c.8561T>A c.(8560-8562)tTa>tAa p.L2854* NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2854 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TTGTTTATTTAATTCAAGTGT 0.418000 9 476 0 0 1 0 0 ENO1 2023 broad.mit.edu 37 1 8928107 8928107 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:8928107C>T ENST00000234590.4 - 5 369 c.250G>A c.(250-252)Gtc>Atc p.V84I NM_001428.3 NP_001419.1 P06733 ENOA_HUMAN enolase 1, (alpha) 84 gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) TGTTCTGTGACGTTCAGTTTC 0.478000 18 3348 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70591810 70591810 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr8:70591810C>T ENST00000260126.3 - 8 2533 c.1827G>A c.(1825-1827)gtG>gtA p.V609V SLCO5A1_ENST00000530307.1_Silent_p.V554V|SLCO5A1_ENST00000524945.1_Silent_p.V609V NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 609 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GTGGAGTGATCACTTGGCGAC 0.458000 13 466 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21733438 21733438 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:21733438C>T ENST00000261195.2 - 2 395 c.141G>A c.(139-141)gtG>gtA p.V47V NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 47 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TTGTCTGAATCACAGTATAGA 0.353000 10 148 0 0 1 0 0 FASTKD2 22868 broad.mit.edu 37 2 207631976 207631976 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:207631976G>A ENST00000236980.6 + 2 907 c.559G>A c.(559-561)Gca>Aca p.A187T FASTKD2_ENST00000403094.3_Missense_Mutation_p.A187T|FASTKD2_ENST00000402774.3_Missense_Mutation_p.A187T NM_014929.3 NP_055744.2 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 187 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2) 21 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) CTATTTCACAGCAATGTGGAC 0.408000 4 418 0 0 1 0 0 LETMD1 25875 broad.mit.edu 37 12 51447559 51447559 + Splice_Site SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:51447559A>T ENST00000418425.2 + 4 448 c.e4-1 LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000550929.1_Splice_Site|LETMD1_ENST00000262055.4_Splice_Site|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000380123.2_Intron NM_001243689.1 NP_001230618.1 Q6P1Q0 LTMD1_HUMAN LETM1 domain containing 1 integral to membrane|mitochondrial outer membrane protein binding central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3) 16 ATTTCTGCTTAGTTCCGCCAA 0.403000 10 1074 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736257 140736257 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:140736257A>G ENST00000571252.1 + 1 1490 c.1490A>G c.(1489-1491)cAg>cGg p.Q497R PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACACCTTCCAGGGTGCACCT 0.512000 5 301 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145015865 145015865 + Nonsense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:145015865C>A ENST00000369359.4 - 3 474 c.436G>T c.(436-438)Gag>Tag p.E146* PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.E75*|PDE4DIP_ENST00000493130.2_Nonsense_Mutation_p.E75*|PDE4DIP_ENST00000478649.2_Nonsense_Mutation_p.E75*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.E146*|PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.E146* Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 9 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTTACCTTCTCAAAGTCTCGA 0.443000 T PDGFRB MPD 15 1884 7.48243e-07 8.28771e-07 1 1 0 HOXD13 3239 broad.mit.edu 37 2 176959247 176959247 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:176959247G>T ENST00000392539.3 + 2 821 c.821G>T c.(820-822)cGa>cTa p.R274L NM_000523.3 NP_000514.2 P35453 HXD13_HUMAN homeobox D13 274 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) TGCGTCTACCGAAGAGGGAGG 0.468000 T NUP98 AML* 7 78 0.0293803 0.0294998 1 1 0 SLC6A5 9152 broad.mit.edu 37 11 20658745 20658745 + Missense_Mutation SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:20658745T>C ENST00000525748.1 + 12 2038 c.1765T>C c.(1765-1767)Tcc>Ccc p.S589P SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 589 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) CATAGTGACCTCCATCTCAGA 0.483000 4 460 0 0 1 0 0 THADA 63892 broad.mit.edu 37 2 43799003 43799003 + Splice_Site SNP T T A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:43799003T>A ENST00000403856.1 - 14 2056 c.e14-2 THADA_ENST00000402360.2_Splice_Site|THADA_ENST00000405006.4_Splice_Site|THADA_ENST00000404790.1_Splice_Site|THADA_ENST00000415080.2_Splice_Site|THADA_ENST00000405975.2_Splice_Site|THADA_ENST00000330266.7_Splice_Site Q6YHU6 THADA_HUMAN thyroid adenoma associated binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TATCCTTACCTAAAAAACATC 0.318000 4 121 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100361427 100361427 + RNA SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:100361427A>G ENST00000542585.1 + 0 4134 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.?(2) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGTCTCTTGCAGGTGTCAGAA 0.587000 24 100 0 0 1 0 0 RAI14 26064 broad.mit.edu 37 5 34814686 34814686 + Splice_Site SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:34814686A>T ENST00000265109.3 + 12 1139 c.e12-1 RAI14_ENST00000515799.1_Splice_Site|RAI14_ENST00000512629.1_Splice_Site|RAI14_ENST00000428746.2_Splice_Site|RAI14_ENST00000503673.1_Splice_Site|RAI14_ENST00000397449.1_Splice_Site|RAI14_ENST00000506376.1_Splice_Site NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) TTTCTTTTTTAGTTGAGTGAT 0.368000 4 49 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35506818 35506818 + Silent SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:35506818T>C ENST00000353139.5 - 45 6130 c.5649A>G c.(5647-5649)ttA>ttG p.L1883L ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Silent_p.L1846L|ACACA_ENST00000360679.3_Silent_p.L1788L|ACACA_ENST00000335166.5_Silent_p.L1768L NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1846 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTGTTAGAATTAAGTGAGAAT 0.423000 6 287 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139371797 139371797 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:139371797C>T ENST00000313050.7 - 1 344 c.271G>A c.(271-273)Ggt>Agt p.G91S NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 2055 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) ACAAGCAAACCGGGGTGCTGA 0.587000 4 358 0 0 1 0 0 STPG1 90529 broad.mit.edu 37 1 24700199 24700199 + Silent SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:24700199A>G ENST00000374409.1 - 6 818 c.564T>C c.(562-564)ccT>ccC p.P188P STPG1_ENST00000003583.8_Silent_p.P141P|STPG1_ENST00000337248.4_Silent_p.P188P|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Silent_p.P141P NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 TACCTGGGGGAGGTCCTTTAT 0.493000 7 797 0 0 1 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140740059 140740059 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:140740059A>G ENST00000522605.1 + 1 357 c.357A>G c.(355-357)atA>atG p.I119M PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTCTACATAGCAGTAATTG 0.383000 5 776 0 0 1 0 0 PABPC3 5042 broad.mit.edu 37 13 25671044 25671044 + Silent SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr13:25671044A>G ENST00000281589.3 + 1 745 c.708A>G c.(706-708)gtA>gtG p.V236V NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 236 RRM 3. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TTGGATTTGTAAGCTTTGAAA 0.418000 8 1400 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77331192 77331192 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:77331192G>A ENST00000282849.5 - 18 3213 c.2795C>T c.(2794-2796)cCg>cTg p.P932L NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 932 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTACTAAGCCGGGCAGGAGAA 0.398000 4 436 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580124 140580124 + Translation_Start_Site SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:140580124G>A ENST00000536699.1 + 0 245 PCDHB11_ENST00000354757.3_Silent_p.S259S Q9Y5F2 PCDBB_HUMAN calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCTTGGCTCGCTGATTTTGA 0.438000 5 352 0 0 1 0 0 RNF19B 127544 broad.mit.edu 37 1 33402681 33402681 + Missense_Mutation SNP C C G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:33402681C>G ENST00000373456.7 - 9 1924 c.1925G>C c.(1924-1926)tGt>tCt p.C642S RNF19B_ENST00000356990.5_3'UTR|RNF19B_ENST00000235150.4_Missense_Mutation_p.C641S NM_153341.2 NP_699172.2 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B 642 integral to membrane ligase activity|protein binding|zinc ion binding p.C451S(1) endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TTTCTGTTCACAGCTTTGGTG 0.552000 6 331 0 0 1 0 0 C1orf43 25912 broad.mit.edu 37 1 154184845 154184845 + Nonsense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:154184845G>A ENST00000368521.5 - 6 715 c.517C>T c.(517-519)Cag>Tag p.Q173* C1orf43_ENST00000362076.4_Nonsense_Mutation_p.Q121*|C1orf43_ENST00000368516.1_Nonsense_Mutation_p.Q139*|C1orf43_ENST00000368518.1_Nonsense_Mutation_p.Q173*|C1orf43_ENST00000368519.1_Nonsense_Mutation_p.Q155*|C1orf43_ENST00000350592.3_Nonsense_Mutation_p.Q139* NM_001098616.1 NP_001092086.1 Q9BWL3 CA043_HUMAN chromosome 1 open reading frame 43 173 integral to membrane coenzyme binding|oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 10 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) TACTCATTCTGGCCAAAGACC 0.522000 6 1083 0 0 1 0 0 GNB5 10681 broad.mit.edu 37 15 52427899 52427899 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr15:52427899G>T ENST00000261837.7 - 8 747 c.682C>A c.(682-684)Cag>Aag p.Q228K GNB5_ENST00000396335.4_Missense_Mutation_p.Q116K|GNB5_ENST00000358784.7_Missense_Mutation_p.Q186K|GNB5_ENST00000559348.1_5'UTR|CTD-2184D3.7_ENST00000557898.1_RNA NM_016194.3 NP_057278.2 O14775 GBB5_HUMAN guanine nucleotide binding protein (G protein), beta 5 228 heterotrimeric G-protein complex GTPase activity|signal transducer activity large_intestine(1)|lung(1) 2 all cancers(107;0.0163) TGCAGCAGCTGCCCGCTCTCC 0.597000 8 209 1.76689e-08 2.00194e-08 1 1 0 KRT85 3891 broad.mit.edu 37 12 52755264 52755264 + Silent SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:52755264G>T ENST00000257901.3 - 8 1392 c.1317C>A c.(1315-1317)ggC>ggA p.G439G KRT85_ENST00000544265.1_Silent_p.G227G NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 439 Tail. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CATTCACAGAGCCCACACCTT 0.463000 130 822 1.67449e-95 2.01756e-95 1 1 0 PC 5091 broad.mit.edu 37 11 66617533 66617533 + Nonsense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:66617533C>A ENST00000393960.1 - 20 3054 c.2773G>T c.(2773-2775)Gga>Tga p.G925* PC_ENST00000393955.2_Nonsense_Mutation_p.G925*|PC_ENST00000393958.2_Nonsense_Mutation_p.G925*|PC_ENST00000529047.1_Nonsense_Mutation_p.G45* NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 925 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CGGCTCAATCCATTCTGCACC 0.637000 3 61 6.4e-05 6.84329e-05 1 1 0 VEZT 55591 broad.mit.edu 37 12 95694432 95694432 + Nonsense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:95694432G>T ENST00000436874.1 + 12 2428 c.2323G>T c.(2323-2325)Gag>Tag p.E775* VEZT_ENST00000261219.6_Nonsense_Mutation_p.E727*|VEZT_ENST00000356859.4_3'UTR NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 775 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 AAATAAAAATGAGATAGAAGA 0.368000 3 32 0.004672 0.00480827 1 1 0 TLR7 51284 broad.mit.edu 37 X 12903798 12903798 + Silent SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chrX:12903798A>G ENST00000380659.3 + 3 310 c.171A>G c.(169-171)acA>acG p.T57T NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 57 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) AGCATTTGACAGAAATTCCTG 0.498000 5 787 0 0 1 0 0 CLK4 57396 broad.mit.edu 37 5 178050411 178050411 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:178050411G>A ENST00000316308.4 - 2 175 c.7C>T c.(7-9)Cat>Tat p.H3Y CLK4_ENST00000520957.1_Missense_Mutation_p.H3Y NM_020666.2 NP_065717.1 Q9HAZ1 CLK4_HUMAN CDC-like kinase 4 3 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2) 21 all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918) all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.235) CTTTTGGAATGCCGCATCTGT 0.378000 4 157 0 0 1 0 0 ELOVL5 60481 broad.mit.edu 37 6 53141056 53141056 + Splice_Site SNP T T A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:53141056T>A ENST00000542638.1 - 4 694 c.e4-2 ELOVL5_ENST00000304434.6_Splice_Site|ELOVL5_ENST00000486973.1_Splice_Site|ELOVL5_ENST00000541407.1_Splice_Site|ELOVL5_ENST00000370918.4_Splice_Site Q9NYP7 ELOV5_HUMAN ELOVL fatty acid elongase 5 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Lung NSC(77;0.116) TGTTACTAACTAAAAAAGAAG 0.413000 4 128 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97427127 97427127 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:97427127G>A ENST00000377075.2 + 1 489 c.391G>A c.(391-393)Gtg>Atg p.V131M NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 131 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 CACGTCCGGCGTGCTGGTGGT 0.657000 3 108 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5969065 5969065 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:5969065C>T ENST00000329564.6 + 1 496 c.489C>T c.(487-489)atC>atT p.I163I NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCTGCCCATCCCCATCCTTT 0.443000 6 236 0 0 1 0 0 SLC35F1 222553 broad.mit.edu 37 6 118635189 118635189 + Splice_Site SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:118635189A>T ENST00000360388.4 + 8 1203 c.e8-1 NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) GTGTTTTTTTAGTTTTCAGGA 0.473000 7 106 0 0 1 0 0 CCNA1 8900 broad.mit.edu 37 13 37015253 37015253 + Splice_Site SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr13:37015253A>T ENST00000418263.1 + 7 1445 c.e7-1 CCNA1_ENST00000440264.1_Splice_Site|CCNA1_ENST00000449823.1_Splice_Site|CCNA1_ENST00000255465.4_Splice_Site NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) TCTTGTGCTTAGTACGTAGCA 0.393000 4 77 0 0 1 0 0 MLF2 8079 broad.mit.edu 37 12 6859100 6859100 + Missense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:6859100C>A ENST00000203630.5 - 7 1117 c.473G>T c.(472-474)cGg>cTg p.R158L MLF2_ENST00000539187.1_Missense_Mutation_p.R158L|MLF2_ENST00000435120.1_Missense_Mutation_p.R158L|MLF2_ENST00000542154.1_Missense_Mutation_p.R158L Q15773 MLF2_HUMAN myeloid leukemia factor 2 158 defense response cytoplasm|nucleus protein binding kidney(2)|large_intestine(3)|lung(4) 9 AGCCCTGTCCCGGATGTGATG 0.597000 7 183 0.0293803 0.0294998 1 1 0 ACKR4 51554 broad.mit.edu 37 3 132319326 132319326 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr3:132319326C>T ENST00000249887.2 + 2 181 c.85C>T c.(85-87)Ctg>Ttg p.L29L ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000355458.3_Intron NM_016557.2|NM_178445.2 NP_057641.1|NP_848540.1 atypical chemokine receptor 4 p.L29L(1) TCAATATGAACTGATCTGTAT 0.378000 3 52 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47958049 47958049 + Missense_Mutation SNP T T A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr3:47958049T>A ENST00000426837.2 - 8 1406 c.1319A>T c.(1318-1320)gAc>gTc p.D440V MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Missense_Mutation_p.D423V|MAP4_ENST00000395734.3_Missense_Mutation_p.D423V P27816 MAP4_HUMAN microtubule-associated protein 4 423 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGATATAATGTCATTAGCCTG 0.493000 6 565 0 0 1 0 0 ESYT1 23344 broad.mit.edu 37 12 56531150 56531150 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:56531150G>A ENST00000394048.5 + 17 2195 c.1931G>A c.(1930-1932)gGg>gAg p.G644E ESYT1_ENST00000541590.1_Missense_Mutation_p.G654E|ESYT1_ENST00000267113.4_Missense_Mutation_p.G654E NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 644 C2 3. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 AGCCAGTTTGGGACTGAGGTG 0.547000 3 124 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32495254 32495254 + Nonsense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:32495254C>A ENST00000266088.4 + 12 1615 c.1365C>A c.(1363-1365)taC>taA p.Y455* SLC5A1_ENST00000543737.1_Nonsense_Mutation_p.Y328* NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 455 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 TCTTCGATTACATCCAGTCCA 0.502000 6 599 0.00307968 0.00319614 1 1 0 HAUS6 54801 broad.mit.edu 37 9 19060130 19060130 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr9:19060130G>A ENST00000380502.3 - 15 2188 c.1721C>T c.(1720-1722)cCc>cTc p.P574L HAUS6_ENST00000380496.1_Missense_Mutation_p.P438L NM_017645.3 NP_060115.3 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 574 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TGTTAAGAAGGGGTTAGAACC 0.373000 5 44 0 0 1 0 0 GKN2 200504 broad.mit.edu 37 2 69173558 69173558 + Nonsense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:69173558C>T ENST00000481498.1 - 5 368 c.350G>A c.(349-351)tGg>tAg p.W117* GKN2_ENST00000328895.4_Nonsense_Mutation_p.W117* Q86XP6 GKN2_HUMAN gastrokine 2 117 BRICHOS. extracellular region p.W117L(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1) 15 GTACTTGACCCAGGTGTATTT 0.403000 4 229 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5209271 5209271 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr5:5209271A>T ENST00000274181.7 + 10 1655 c.1517A>T c.(1516-1518)aAa>aTa p.K506I ADAMTS16_ENST00000511368.1_Missense_Mutation_p.K506I NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 506 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.K506I(2) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TATCCTGAGAAATTGCCAGGA 0.448000 19 497 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24874693 24874693 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr10:24874693A>T ENST00000396432.2 - 26 5011 c.4525T>A c.(4525-4527)Tca>Aca p.S1509T NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1508 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 TTGTGTTTTGAGTTGTGTGGT 0.488000 8 844 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120576613 120576613 + Missense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:120576613C>A ENST00000300648.6 - 46 6054 c.6042G>T c.(6040-6042)ttG>ttT p.L2014F NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 2014 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTGGGTCACACAAAGCCTTCC 0.547000 26 949 6.44725e-10 7.61605e-10 1 1 0 CBLC 23624 broad.mit.edu 37 19 45284600 45284600 + Missense_Mutation SNP G G C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr19:45284600G>C ENST00000270279.3 + 3 700 c.637G>C c.(637-639)Gtc>Ctc p.V213L CBLC_ENST00000341505.4_Missense_Mutation_p.V213L NM_012116.3 NP_036248.3 Q9ULV8 CBLC_HUMAN Cbl proto-oncogene C, E3 ubiquitin protein ligase 213 Cbl-PTB.|EF-hand-like. cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.V213L(1) breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) CGAGTTCGACGTCTTCACCAG 0.612000 M AML 52 34 0 0 1 0 0 RAB7L1 8934 broad.mit.edu 37 1 205741655 205741655 + Missense_Mutation SNP C C G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:205741655C>G ENST00000367139.3 - 3 468 c.165G>C c.(163-165)gaG>gaC p.E55D RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000235932.4_Missense_Mutation_p.E55D|RAB7L1_ENST00000414729.1_Missense_Mutation_p.E55D|RAB7L1_ENST00000468887.1_Intron|RAB7L1_ENST00000446390.2_Intron NM_003929.2 NP_003920.1 O14966 RAB7L_HUMAN RAB7, member RAS oncogene family-like 1 55 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 10 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0194) GCCGCACTATCTCGTAGTCAG 0.363000 4 496 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234869499 234869499 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:234869499G>A ENST00000324695.4 + 12 1482 c.1442G>A c.(1441-1443)gGc>gAc p.G481D TRPM8_ENST00000433712.2_Missense_Mutation_p.G169D NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 481 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CTGGAGAATGGCTTGAACCTA 0.478000 5 494 0 0 1 0 0 LIX1L 128077 broad.mit.edu 37 1 145492240 145492240 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:145492240C>T ENST00000369308.3 + 3 536 c.462C>T c.(460-462)tgC>tgT p.C154C RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000437207.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA NM_153713.1 NP_714924.1 Q8IVB5 LIX1L_HUMAN Lix1 homolog (mouse)-like 154 large_intestine(4)|lung(6)|ovary(2)|skin(1) 13 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCTAGTTTTGCCCCACAAAAG 0.448000 4 392 0 0 1 0 0 SLC9A9 285195 broad.mit.edu 37 3 143297454 143297454 + Silent SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr3:143297454C>A ENST00000316549.6 - 7 1075 c.867G>T c.(865-867)ggG>ggT p.G289G NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 289 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity p.G289G(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 CATACGCAGACCCCATTGCAA 0.458000 33 357 3.78316e-11 4.49528e-11 1 1 0 BICD1 636 broad.mit.edu 37 12 32369279 32369279 + Nonsense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:32369279C>A ENST00000548411.1 + 2 493 c.312C>A c.(310-312)taC>taA p.Y104* BICD1_ENST00000281474.5_Nonsense_Mutation_p.Y104* NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 104 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AGGAGGCTTACTATCTGGGGA 0.547000 10 188 0.000442599 0.000475559 1 1 0 COPS4 51138 broad.mit.edu 37 4 83970374 83970374 + Nonsense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr4:83970374C>A ENST00000509093.1 + 3 988 c.210C>A c.(208-210)tgC>tgA p.C70* COPS4_ENST00000511708.1_3'UTR|COPS4_ENST00000511653.1_Nonsense_Mutation_p.C70*|COPS4_ENST00000264389.2_Nonsense_Mutation_p.C70*|COPS4_ENST00000503682.1_Nonsense_Mutation_p.C70* NM_001258006.1 NP_001244935.1 Q9BT78 CSN4_HUMAN COP9 signalosome subunit 4 70 cullin deneddylation cytoplasm|signalosome protein binding p.C70*(1) endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2) 13 Hepatocellular(203;0.114) CTGATTTTTGCACACATCTTC 0.383000 18 62 1.50039e-11 1.79337e-11 1 1 0 OR52A1 23538 broad.mit.edu 37 11 5172907 5172907 + Missense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr11:5172907C>A ENST00000380367.1 - 2 1110 c.693G>T c.(691-693)ttG>ttT p.L231F OR52A1_ENST00000328942.1_Missense_Mutation_p.L231F Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 231 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTTCTGGGGCAAACGAAAAA 0.428000 15 199 0.00316338 0.00331089 1 1 0 KLRB1 3820 broad.mit.edu 37 12 9747902 9747902 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:9747902G>T ENST00000229402.3 - 6 692 c.646C>A c.(646-648)Cct>Act p.P216T NM_002258.2 NP_002249.1 Q12918 KLRB1_HUMAN killer cell lectin-like receptor subfamily B, member 1 216 cell surface receptor linked signaling pathway integral to membrane|plasma membrane sugar binding|transmembrane receptor activity endometrium(2)|large_intestine(6)|lung(4) 12 TTTCTCACAGGTGTTAGTTCT 0.373000 8 283 1.06961e-07 1.23464e-07 1 1 0 ANKRD42 338699 broad.mit.edu 37 11 82905759 82905759 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr11:82905759C>T ENST00000393389.3 + 1 979 c.47C>T c.(46-48)aCt>aTt p.T16I ANKRD42_ENST00000528722.1_Intron|ANKRD42_ENST00000533342.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000526731.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000531895.1_Missense_Mutation_p.T16I|ANKRD42_ENST00000393392.2_Missense_Mutation_p.T16I|ANKRD42_ENST00000260047.6_Missense_Mutation_p.T16I Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 16 p.T16I(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 TCTAGGGAGACTGCAAACCCC 0.572000 27 79 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232650730 232650730 + Missense_Mutation SNP C C G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:232650730C>G ENST00000366630.1 - 2 714 c.356G>C c.(355-357)aGt>aCt p.S119T SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S119T Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 119 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.S119T(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ACTCTGGTCACTCTGCCCATT 0.502000 45 185 0 0 1 0 0 ERICH1 157697 broad.mit.edu 37 8 623839 623839 + Silent SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr8:623839A>T ENST00000262109.7 - 4 590 c.513T>A c.(511-513)atT>atA p.I171I ERICH1_ENST00000522706.1_Silent_p.I77I NM_207332.1 NP_997215.1 Q86X53 ERIC1_HUMAN glutamate-rich 1 171 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) TCTTCCTTTTAATTTGCTGTT 0.473000 5 48 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9424626 9424626 + Splice_Site SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr20:9424626A>T ENST00000378501.2 + 27 2743 c.e27-1 PLCB4_ENST00000378493.1_Splice_Site|PLCB4_ENST00000492632.1_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site|PLCB4_ENST00000334005.3_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TTGTTTGTTTAGGTATTGAAC 0.308000 6 144 0 0 1 0 0 KDM8 79831 broad.mit.edu 37 16 27221579 27221579 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr16:27221579G>A ENST00000286096.4 + 2 308 c.135G>A c.(133-135)gtG>gtA p.V45V KDM8_ENST00000568965.1_Silent_p.V45V|KDM8_ENST00000441782.2_Silent_p.V83V|KDM8_ENST00000380948.2_Silent_p.V45V NM_024773.2 NP_079049.2 Q8N371 KDM8_HUMAN lysine (K)-specific demethylase 8 45 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen AGAGGAGCGTGGTGACATTGT 0.592000 38 192 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222940 140222940 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr5:140222940G>A ENST00000531613.1 + 1 2034 c.2034G>A c.(2032-2034)gcG>gcA p.A678A PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.A678A|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCAAAAGCGTCATCGAGGC 0.632000 3 48 0 0 1 0 0 RTN4 57142 broad.mit.edu 37 2 55253832 55253832 + Missense_Mutation SNP T T G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:55253832T>G ENST00000337526.6 - 3 1646 c.1403A>C c.(1402-1404)aAc>aCc p.N468T RTN4_ENST00000404909.1_Missense_Mutation_p.N262T|RTN4_ENST00000405240.1_Missense_Mutation_p.N262T|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.N262T|RTN4_ENST00000394611.2_Missense_Mutation_p.N262T|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.N236T|RTN4_ENST00000317610.7_Intron NM_020532.4 NP_065393.1 Q9NQC3 RTN4_HUMAN reticulon 4 468 apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding p.N262T(1)|p.N468T(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1) 36 TGCTGCTGGGTTAAAGGGAGC 0.378000 11 158 0 0 1 0 0 ZNF134 7693 broad.mit.edu 37 19 58132522 58132522 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr19:58132522G>T ENST00000396161.5 + 3 1345 c.1035G>T c.(1033-1035)gaG>gaT p.E345D NM_003435.3 NP_003426.3 P52741 ZN134_HUMAN zinc finger protein 134 345 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1) 11 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) AGCCGTTTGAGTGCATTGAAT 0.428000 5 432 0.000602214 0.000636897 1 1 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 4 74 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32910986 32910986 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr13:32910986G>A ENST00000544455.1 + 11 2721 c.2494G>A c.(2494-2496)Gag>Aag p.E832K BRCA2_ENST00000380152.3_Missense_Mutation_p.E832K NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 832 Interaction with NPM1. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding p.E832K(2) NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TAAAAACGTTGAGCTGTTGCC 0.308000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 7 51 0 0 1 0 0 EVA1C 59271 broad.mit.edu 37 21 33840085 33840085 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr21:33840085C>T ENST00000300255.2 + 4 1036 c.563C>T c.(562-564)tCt>tTt p.S188F EVA1C_ENST00000382699.3_Missense_Mutation_p.S188F|EVA1C_ENST00000401402.3_Missense_Mutation_p.S188F NM_058187.3 NP_478067.2 eva-1 homolog C (C. elegans) AACATCTACTCTGCGACCTAC 0.483000 6 105 0 0 1 0 0 CCDC122 160857 broad.mit.edu 37 13 44433878 44433878 + Nonsense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr13:44433878A>T ENST00000444614.3 - 5 743 c.485T>A c.(484-486)tTa>tAa p.L162* CCDC122_ENST00000281508.3_Nonsense_Mutation_p.L162*|CCDC122_ENST00000476570.2_5'UTR NM_144974.3 NP_659411.2 Q5T0U0 CC122_HUMAN coiled-coil domain containing 122 162 endometrium(1)|large_intestine(2)|lung(5)|stomach(1) 9 Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128) CATTGTCTTTAATTTTTTAAC 0.318000 4 74 0 0 1 0 0 GNAZ 2781 broad.mit.edu 37 22 23465467 23465467 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr22:23465467G>A ENST00000248996.4 + 3 1583 c.917G>A c.(916-918)cGg>cAg p.R306Q RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 306 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) TACATCCAGCGGCAGTTTGAA 0.577000 5 444 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13766201 13766201 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr5:13766201G>A ENST00000265104.4 - 59 10089 c.9985C>T c.(9985-9987)Ctg>Ttg p.L3329L DNAH5_ENST00000504001.3_Intron NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3329 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTTTGAAACAGCAGCAGTACG 0.517000 Kartagener syndrome 4 273 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74659521 74659521 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr18:74659521C>T ENST00000253159.8 + 27 5019 c.4821C>T c.(4819-4821)ggC>ggT p.G1607G ZNF236_ENST00000320610.9_Silent_p.G1609G NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1607 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CTCTCTCGGGCCAGGGTGGAG 0.507000 4 296 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67302932 67302932 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr17:67302932A>T ENST00000392676.3 - 6 786 c.722T>A c.(721-723)gTa>gAa p.V241E ABCA5_ENST00000588877.1_Missense_Mutation_p.V241E|ABCA5_ENST00000392677.2_Missense_Mutation_p.V241E Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 241 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) TTTTTCTGCTACGATATGAAT 0.269000 6 44 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167893 140167893 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr5:140167893G>A ENST00000504120.2 + 1 2018 c.2018G>A c.(2017-2019)gGc>gAc p.G673D PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.G673D NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGAGAGCGGCCAGGCGCCA 0.657000 3 24 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14982971 14982971 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr16:14982971G>A ENST00000287667.7 + 29 3514 c.3343G>A c.(3343-3345)Gac>Aac p.D1115N NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1115 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 TGTGCTTCTGGACTCCACACT 0.433000 17 1646 0 0 1 0 0 SART1 9092 broad.mit.edu 37 11 65746286 65746286 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr11:65746286G>A ENST00000312397.5 + 19 2377 c.2285G>A c.(2284-2286)aGc>aAc p.S762N NM_005146.4 NP_005137.1 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T cells 762 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 ATGAGCTCCAGCGACACGCCC 0.672000 5 622 0 0 1 0 0 C17orf58 284018 broad.mit.edu 37 17 65989118 65989118 + Missense_Mutation SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr17:65989118T>C ENST00000536693.1 - 1 550 c.145A>G c.(145-147)Acc>Gcc p.T49A C17orf58_ENST00000449250.2_Intron|C17orf58_ENST00000334461.7_Missense_Mutation_p.T49A Q2M2W7 CQ058_HUMAN chromosome 17 open reading frame 58 0 lung(2) 2 all_cancers(12;4.57e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) CAAACGGTGGTATAAAGTACA 0.498000 3 67 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169565309 169565309 + Missense_Mutation SNP G G C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:169565309G>C ENST00000263686.6 - 12 1992 c.1955C>G c.(1954-1956)aCc>aGc p.T652S SELP_ENST00000367786.2_Missense_Mutation_p.T590S|SELP_ENST00000367791.2_Missense_Mutation_p.T466S|SELP_ENST00000367792.2_Missense_Mutation_p.T468S|SELP_ENST00000367794.2_Missense_Mutation_p.T590S|SELP_ENST00000367788.2_Missense_Mutation_p.T590S|SELP_ENST00000367793.2_Missense_Mutation_p.T590S|SELP_ENST00000458599.2_Missense_Mutation_p.T468S NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 652 Sushi 8. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) ACAGTACATGGTTCCCTGCCC 0.502000 5 625 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42276720 42276720 + Splice_Site SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr22:42276720G>T ENST00000361204.4 + 10 1928 c.1761_splice c.e10-1 p.G588_splice NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 588 cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TACTTTGTAGGGAGATTTTGC 0.542000 5 441 0.000602214 0.000636897 1 1 0 RAB5B 5869 broad.mit.edu 37 12 56383757 56383757 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:56383757C>T ENST00000360299.5 + 3 411 c.190C>T c.(190-192)Cta>Tta p.L64L RAB5B_ENST00000448789.2_Silent_p.L64L|RAB5B_ENST00000553116.1_Silent_p.L64L NM_002868.3 NP_002859.1 P61020 RAB5B_HUMAN RAB5B, member RAS oncogene family 64 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|membrane fraction|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1) 9 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) GTCCGTTTGTCTAGATGACAC 0.532000 4 317 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33135305 33135305 + Nonsense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr19:33135305G>A ENST00000306065.4 - 5 609 c.451C>T c.(451-453)Cga>Tga p.R151* ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.R151*|ANKRD27_ENST00000586693.2_5'UTR NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 151 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) CTGTCAAATCGCTCGGAGTGT 0.493000 8 1176 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67107007 67107007 + Nonsense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr17:67107007A>T ENST00000284425.2 - 17 2381 c.2207T>A c.(2206-2208)tTa>tAa p.L736* NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 736 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) TTCTGTTTTTAATTTAGCATC 0.299000 4 121 0 0 1 0 0 KCNA1 3736 broad.mit.edu 37 12 5021920 5021920 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:5021920A>G ENST00000382545.3 + 2 2483 c.1376A>G c.(1375-1377)gAg>gGg p.E459G KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 459 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GAGATCGAAGAGGATATGAAT 0.458000 4 307 0 0 1 0 0 WFDC8 90199 broad.mit.edu 37 20 44181832 44181832 + Nonsense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr20:44181832G>A ENST00000357199.4 - 5 607 c.529C>T c.(529-531)Cag>Tag p.Q177* WFDC8_ENST00000289953.2_Nonsense_Mutation_p.Q177* NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 177 WAP 2. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) TTGTCTGTCTGGGGACAATCG 0.473000 4 368 0 0 1 0 0 NOB1 28987 broad.mit.edu 37 16 69782875 69782875 + Silent SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr16:69782875A>G ENST00000268802.5 - 6 701 c.672T>C c.(670-672)tgT>tgC p.C224C NM_014062.1 NP_054781.1 Q9ULX3 NOB1_HUMAN NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) 224 nucleus metal ion binding|protein binding breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CGGGGACGTCACACTGCTCCA 0.597000 4 91 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133244227 133244227 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:133244227G>A ENST00000320574.5 - 20 2224 c.2181C>T c.(2179-2181)tgC>tgT p.C727C POLE_ENST00000535270.1_Silent_p.C700C NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 727 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) AGGCTTTCCGGCAGTAATCTA 0.572000 DNA polymerases (catalytic subunits) 4 271 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18379546 18379546 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr22:18379546G>A ENST00000441493.2 - 8 1502 c.1150C>T c.(1150-1152)Cgg>Tgg p.R384W MICAL3_ENST00000383094.3_Missense_Mutation_p.R384W|MICAL3_ENST00000400561.2_Missense_Mutation_p.R384W|MICAL3_ENST00000585038.1_Missense_Mutation_p.R384W|MICAL3_ENST00000429452.1_Missense_Mutation_p.R384W|MICAL3_ENST00000414725.2_Missense_Mutation_p.R384W|MICAL3_ENST00000207726.7_Missense_Mutation_p.R384W|MICAL3_ENST00000444520.1_Missense_Mutation_p.R384W NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 384 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) TTCTGCTCCCGCACCAAGGCG 0.562000 OREG0026285 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 226 0 0 1 0 0 NMT2 9397 broad.mit.edu 37 10 15161374 15161374 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr10:15161374G>A ENST00000378165.4 - 9 1218 c.1138C>T c.(1138-1140)Cgg>Tgg p.R380W NMT2_ENST00000540259.1_Missense_Mutation_p.R192W|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.R367W|NMT2_ENST00000378150.1_Missense_Mutation_p.R367W NM_004808.2 NP_004799.1 O60551 NMT2_HUMAN N-myristoyltransferase 2 380 N-terminal protein myristoylation|protein lipoylation Golgi apparatus|plasma membrane glycylpeptide N-tetradecanoyltransferase activity breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3) 21 ATGTGCTCCCGGGGGAGGAAC 0.448000 8 510 0 0 1 0 0 DGKE 8526 broad.mit.edu 37 17 54921397 54921397 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr17:54921397A>G ENST00000284061.3 + 3 662 c.482A>G c.(481-483)aAa>aGa p.K161R DGKE_ENST00000576869.1_3'UTR NM_003647.2 NP_003638.1 P52429 DGKE_HUMAN diacylglycerol kinase, epsilon 64kDa 161 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) TGGTGCCAGAAAACAGTACAT 0.308000 4 68 0 0 1 0 0 ACSL1 2180 broad.mit.edu 37 4 185687852 185687852 + Missense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr4:185687852C>A ENST00000515030.1 - 13 1512 c.1187G>T c.(1186-1188)aGg>aTg p.R396M ACSL1_ENST00000504342.1_Missense_Mutation_p.R396M|ACSL1_ENST00000281455.2_Missense_Mutation_p.R396M|ACSL1_ENST00000454703.2_Missense_Mutation_p.R225M|ACSL1_ENST00000507295.1_Missense_Mutation_p.R362M|ACSL1_ENST00000513317.1_Missense_Mutation_p.R396M|ACSL1_ENST00000437665.3_Missense_Mutation_p.R225M P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 396 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGCTTCTTTCCTCTTGGAGGC 0.498000 62 409 1.95512e-22 2.40814e-22 1 1 0 DBNL 28988 broad.mit.edu 37 7 44099010 44099010 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr7:44099010G>T ENST00000494774.1 + 10 917 c.896G>T c.(895-897)gGc>gTc p.G299V DBNL_ENST00000468694.1_Missense_Mutation_p.G307V|DBNL_ENST00000490734.2_Missense_Mutation_p.G204V|DBNL_ENST00000452943.1_Missense_Mutation_p.G274V|DBNL_ENST00000448521.1_Missense_Mutation_p.G298V|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000440166.1_Missense_Mutation_p.G195V|DBNL_ENST00000456905.1_Missense_Mutation_p.G250V NM_014063.6 NP_054782.2 Q9UJU6 DBNL_HUMAN drebrin-like 298 activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1) 12 ACCCACTTTGGCAGAGAGCCA 0.592000 8 64 1.26484e-09 1.48546e-09 1 1 0 JKAMP 51528 broad.mit.edu 37 14 59954452 59954452 + Missense_Mutation SNP C C G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr14:59954452C>G ENST00000554271.1 + 3 725 c.199C>G c.(199-201)Cct>Gct p.P67A JKAMP_ENST00000557560.1_3'UTR|JKAMP_ENST00000556985.1_Missense_Mutation_p.P53A|JKAMP_ENST00000425728.2_Missense_Mutation_p.P47A|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000356057.5_Missense_Mutation_p.P61A|JKAMP_ENST00000261247.9_Missense_Mutation_p.P53A Q9P055 JKAMP_HUMAN JNK1/MAPK8-associated membrane protein 68 ER-associated protein catabolic process|response to unfolded protein endoplasmic reticulum membrane|integral to membrane ubiquitin protein ligase binding p.P61A(1)|p.P63A(1) breast(1)|endometrium(1)|kidney(1)|lung(3) 6 CACAGAATCTCCTGAACTTTA 0.373000 155 463 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123540242 123540242 + Missense_Mutation SNP C C G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chrX:123540242C>G ENST00000422452.2 - 26 5143 c.5080G>C c.(5080-5082)Gat>Cat p.D1694H TENM1_ENST00000371130.3_Missense_Mutation_p.D1687H|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 p.D1689H(1) TTGGAAGTATCTAGCTCCACT 0.458000 6 209 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69381029 69381029 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr8:69381029G>A ENST00000337103.4 + 3 1969 c.377G>A c.(376-378)gGg>gAg p.G126E C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000539993.1_Missense_Mutation_p.G151E|C8orf34_ENST00000348340.2_Missense_Mutation_p.G151E|C8orf34_ENST00000518698.1_Missense_Mutation_p.G237E Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 151 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) AAGAAGCTGGGGAAAGCCCTT 0.408000 6 124 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169801269 169801269 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:169801269G>A ENST00000263817.6 - 21 2580 c.2456C>T c.(2455-2457)gCc>gTc p.A819V NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 819 ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TTTAGCAAAGGCATATCCCTA 0.363000 4 178 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47403749 47403749 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:47403749A>G ENST00000310638.4 - 2 287 c.256T>C c.(256-258)Tgt>Cgt p.C86R CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.C86R|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.C86R NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 86 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding p.C86R(1) endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) CAATGAGGACAGGCACTTGGG 0.493000 44 283 0 0 1 0 0 RDH16 8608 broad.mit.edu 37 12 57351183 57351183 + Nonsense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:57351183G>A ENST00000398138.3 - 1 920 c.64C>T c.(64-66)Cag>Tag p.Q22* RDH16_ENST00000360752.4_5'UTR NM_003708.3 NP_003699.3 O75452 RDH16_HUMAN retinol dehydrogenase 16 (all-trans) 22 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 CTCAGCACCTGCCTCTCCCGG 0.587000 7 215 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61546362 61546362 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:61546362A>T ENST00000398571.2 - 22 3190 c.3114T>A c.(3112-3114)agT>agA p.S1038R NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1038 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) GTTGATCTTTACTTCGAACTT 0.338000 4 94 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140869551 140869551 + Silent SNP T T A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr5:140869551T>A ENST00000252087.1 + 1 744 c.744T>A c.(742-744)cgT>cgA p.R248R PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA10_ENST00000398610.2_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 248 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R248R(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTTCTACGTGTGGGAATCC 0.542000 149 304 0 0 1 0 0 ASL 435 broad.mit.edu 37 7 65557820 65557820 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr7:65557820C>T ENST00000304874.9 + 17 1418 c.1316C>T c.(1315-1317)gCc>gTc p.A439V ASL_ENST00000395332.3_Missense_Mutation_p.A439V|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000395331.3_Missense_Mutation_p.A419V|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Missense_Mutation_p.A413V NM_000048.3 NP_000039.2 P04424 ARLY_HUMAN argininosuccinate lyase 439 arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle cytosol argininosuccinate lyase activity breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 18 L-Arginine(DB00125) CAGTATGGTGCCCTGGGCGGC 0.692000 5 409 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13941432 13941432 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr19:13941432C>T ENST00000254323.2 + 13 2727 c.2538C>T c.(2536-2538)gaC>gaT p.D846D ZSWIM4_ENST00000440752.2_Silent_p.D680D NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 846 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CCGTCAACGACGTGCTTTGGG 0.667000 7 314 0 0 1 0 0 GALNT18 374378 broad.mit.edu 37 11 11292739 11292739 + Silent SNP C C T rs140917604 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr11:11292739C>T ENST00000227756.4 - 11 2187 c.1776G>A c.(1774-1776)tcG>tcA p.S592S NM_198516.2 NP_940918.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 AGTGCTGGCCCGAGCACTTCT 0.617000 7 485 0 0 1 0 0 PRKAG1 5571 broad.mit.edu 37 12 49397067 49397067 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:49397067C>T ENST00000548065.1 - 11 1204 c.748G>A c.(748-750)Gca>Aca p.A250T RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.A199T|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.A218T|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000395170.3_Missense_Mutation_p.A166T|PRKAG1_ENST00000316299.5_Missense_Mutation_p.A259T|RP11-386G11.5_ENST00000552933.1_RNA P54619 AAKG1_HUMAN protein kinase, AMP-activated, gamma 1 non-catalytic subunit 250 CBS 3. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 9 TTTTCTGCTGCCAGATTCTGG 0.493000 6 899 0 0 1 0 0 MICU1 10367 broad.mit.edu 37 10 74128087 74128087 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr10:74128087A>G ENST00000398761.4 - 14 1435 c.1303T>C c.(1303-1305)Ttt>Ctt p.F435L MICU1_ENST00000398763.4_Missense_Mutation_p.F235L|MICU1_ENST00000401998.3_Missense_Mutation_p.F433L|MICU1_ENST00000361114.5_Missense_Mutation_p.F433L|MICU1_ENST00000418483.2_Missense_Mutation_p.F235L Q9BPX6 MICU1_HUMAN mitochondrial calcium uptake 1 433 EF-hand 2. calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding p.F435L(1) ATGGAAACAAATTCCTTATTG 0.473000 26 155 0 0 1 0 0 IQCB1 9657 broad.mit.edu 37 3 121489343 121489343 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr3:121489343G>A ENST00000310864.6 - 15 1860 c.1646C>T c.(1645-1647)gCc>gTc p.A549V IQCB1_ENST00000349820.6_Missense_Mutation_p.A416V NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 549 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) GGCCTGCTTGGCCTTGGCTGC 0.502000 5 474 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70989907 70989907 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr14:70989907G>A ENST00000256389.3 - 2 1962 c.1718C>T c.(1717-1719)gCa>gTa p.A573V RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 523 Cys-rich. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TGCACTCCTTGCATCTTGGCC 0.418000 9 909 0 0 1 0 0 DIO1 1733 broad.mit.edu 37 1 54360160 54360160 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:54360160C>T ENST00000361921.3 + 1 301 c.277C>T c.(277-279)Cca>Tca p.P93S DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000525202.1_Intron|DIO1_ENST00000532493.1_Missense_Mutation_p.P93S|DIO1_ENST00000388876.3_Missense_Mutation_p.P93S|DIO1_ENST00000322679.6_Missense_Mutation_p.P93S|DIO1_ENST00000534069.1_3'UTR NM_000792.5|NM_213593.3 NP_000783.2|NP_998758.1 P49895 IOD1_HUMAN deiodinase, iodothyronine, type I 93 hormone biosynthetic process|thyroid hormone generation endoplasmic reticulum membrane|integral to membrane|plasma membrane selenium binding|thyroxine 5'-deiodinase activity cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1) 9 GGGTCTGGCCCCAAACTGCCC 0.547000 26 192 0 0 1 0 0 GALNT2 2590 broad.mit.edu 37 1 230381811 230381811 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:230381811C>T ENST00000366672.4 + 8 804 c.732C>T c.(730-732)gaC>gaT p.D244D GALNT2_ENST00000541865.1_Silent_p.D154D|GALNT2_ENST00000543760.1_Silent_p.D206D NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 244 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) TATTTTAGGACAGGACTCGGG 0.458000 7 279 0 0 1 0 0 C1QTNF7 114905 broad.mit.edu 37 4 15444098 15444098 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr4:15444098C>T ENST00000295297.4 + 3 825 c.566C>T c.(565-567)aCa>aTa p.T189I C1QTNF7_ENST00000429690.1_Missense_Mutation_p.T182I|C1QTNF7_ENST00000444304.2_Missense_Mutation_p.T182I NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 182 C1q. collagen endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 AACCCTGCCACAGGGAAGTTC 0.443000 5 685 0 0 1 0 0 DTX3 196403 broad.mit.edu 37 12 58002934 58002934 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:58002934G>A ENST00000548198.1 + 5 2547 c.1043G>A c.(1042-1044)tGa>tAa p.*348* DTX3_ENST00000548804.1_Silent_p.*348*|DTX3_ENST00000551632.1_Silent_p.*351*|DTX3_ENST00000337737.3_Silent_p.*348* Q8N9I9 DTX3_HUMAN deltex homolog 3 (Drosophila) 0 Notch signaling pathway cytoplasm zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1) 12 Melanoma(17;0.122) ACAGATGACTGAAGGACATCG 0.592000 11 134 0 0 1 0 0 CNBP 7555 broad.mit.edu 37 3 128889301 128889301 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr3:128889301C>T ENST00000422453.2 - 5 689 c.529G>A c.(529-531)Gcc>Acc p.A177T CNBP_ENST00000451728.2_Missense_Mutation_p.A178T|CNBP_ENST00000500450.2_Missense_Mutation_p.A160T|CNBP_ENST00000441626.2_Missense_Mutation_p.A179T|CNBP_ENST00000504813.1_Missense_Mutation_p.A167T|CNBP_ENST00000502976.1_Missense_Mutation_p.A170T|CNBP_ENST00000446936.2_Missense_Mutation_p.A172T NM_001127192.1|NM_001127193.1|NM_003418.4 NP_001120664.1|NP_001120665.1|NP_003409.1 P62633 CNBP_HUMAN CCHC-type zinc finger, nucleic acid binding protein 177 cholesterol biosynthetic process endoplasmic reticulum DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding biliary_tract(1)|endometrium(1)|kidney(1)|lung(2) 5 AATAATTAGGCTGTAGCCTCA 0.468000 7 472 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238274619 238274619 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:238274619C>T ENST00000295550.4 - 12 6012 c.5560G>A c.(5560-5562)Gcc>Acc p.A1854T COL6A3_ENST00000409809.1_Missense_Mutation_p.A1648T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1648T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1653T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1654T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1247T NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1854 Nonhelical region.|VWFA 10. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCCTTCTGGGCCACAAAAACA 0.547000 4 146 0 0 1 0 0 BIRC8 112401 broad.mit.edu 37 19 53793248 53793248 + Missense_Mutation SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr19:53793248T>C ENST00000426466.1 - 1 1627 c.380A>G c.(379-381)gAc>gGc p.D127G NM_033341.4 NP_203127.3 Q96P09 BIRC8_HUMAN baculoviral IAP repeat containing 8 127 apoptosis zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1) 19 GBM - Glioblastoma multiforme(134;0.00304) TTTCTTAACGTCCTTGAAATC 0.383000 4 212 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147009293 147009293 + Missense_Mutation SNP T T G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr5:147009293T>G ENST00000265272.5 - 15 2359 c.1892A>C c.(1891-1893)gAt>gCt p.D631A JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D589A|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D610A NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 631 Golgi apparatus p.D631A(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) CTTTATGAGATCAGGGATGTT 0.383000 14 60 0 0 1 0 0 S100PBP 64766 broad.mit.edu 37 1 33318709 33318709 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:33318709G>A ENST00000373475.5 + 6 1308 c.1054G>A c.(1054-1056)Gat>Aat p.D352N S100PBP_ENST00000373476.1_Missense_Mutation_p.D352N NM_022753.3 NP_073590.2 Q96BU1 S1PBP_HUMAN S100P binding protein 352 nucleus calcium-dependent protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TGCCTTGATGGATCAAGTTCA 0.488000 6 560 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5790396 5790396 + Missense_Mutation SNP T T G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr10:5790396T>G ENST00000328090.5 + 15 5637 c.5012T>G c.(5011-5013)gTa>gGa p.V1671G NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1671 p.V1671G(1) ACCCATTATGTAAGACCAATA 0.468000 8 76 0 0 1 0 0 VAPB 9217 broad.mit.edu 37 20 57015985 57015985 + Missense_Mutation SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr20:57015985T>C ENST00000475243.1 + 5 757 c.419T>C c.(418-420)aTt>aCt p.I140T VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR NM_004738.4 NP_004729.1 O95292 VAPB_HUMAN VAMP (vesicle-associated membrane protein)-associated protein B and C 140 cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction endoplasmic reticulum membrane|Golgi apparatus|integral to membrane beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity p.I140T(1) kidney(2)|lung(3)|prostate(1) 6 Lung NSC(12;0.000615)|all_lung(29;0.00186) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07) ATAAATAAAATTATATCCACA 0.338000 78 155 0 0 1 0 0 ZNF292 23036 broad.mit.edu 37 6 87966445 87966445 + Missense_Mutation SNP T T A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr6:87966445T>A ENST00000369577.3 + 8 3141 c.3098T>A c.(3097-3099)gTg>gAg p.V1033E ZNF292_ENST00000339907.4_Missense_Mutation_p.V1028E NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1033 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V1033E(1)|p.V888E(1) 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) ACCTTTTCTGTGCAAAATCAG 0.323000 14 87 0 0 1 0 0 STAT2 6773 broad.mit.edu 37 12 56737274 56737274 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:56737274C>T ENST00000314128.4 - 24 2478 c.2455G>A c.(2455-2457)Ggt>Agt p.G819S STAT2_ENST00000557235.1_Missense_Mutation_p.G815S|STAT2_ENST00000556539.1_5'UTR P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 819 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 AGTGGGTCACCATTCGGCATG 0.502000 39 169 0 0 1 0 0 PSMD6 9861 broad.mit.edu 37 3 64007994 64007994 + Splice_Site SNP T T G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr3:64007994T>G ENST00000492933.1 - 3 562 c.510_splice c.e3+1 p.K170_splice PSMD6_ENST00000394431.2_Splice_Site_p.K79_splice|PSMD6_ENST00000482510.1_Splice_Site_p.K78_splice|PSMD6_ENST00000295901.4_Splice_Site_p.K117_splice NM_001271779.1 NP_001258708.1 Q15008 PSMD6_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 117 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of 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 proteasome complex ATPase activity|protein binding p.K117N(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1) 13 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212) CTCTACTCACTTTGTCACCTA 0.423000 90 219 0 0 1 0 0 ISL1 3670 broad.mit.edu 37 5 50680408 50680408 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr5:50680408G>A ENST00000230658.7 + 2 647 c.62G>A c.(61-63)gGc>gAc p.G21D ISL1_ENST00000511384.1_Missense_Mutation_p.G21D NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 21 LIM zinc-binding 1. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) GTTGGTTGCGGCAATCAGATT 0.393000 4 315 0 0 1 0 0 IBTK 25998 broad.mit.edu 37 6 82933226 82933226 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr6:82933226G>T ENST00000306270.7 - 8 1604 c.1055C>A c.(1054-1056)aCa>aAa p.T352K IBTK_ENST00000503631.1_Missense_Mutation_p.T352K|IBTK_ENST00000510291.1_Missense_Mutation_p.T352K NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 352 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) AACACAGACTGTAGCTCCATC 0.428000 5 82 1.23904e-05 1.36768e-05 1 1 0 NSDHL 50814 broad.mit.edu 37 X 152037392 152037392 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chrX:152037392G>A ENST00000370274.3 + 8 1048 c.854G>A c.(853-855)gGc>gAc p.G285D NSDHL_ENST00000440023.1_Missense_Mutation_p.G285D NM_015922.2 NP_057006.1 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 285 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5) 15 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) ATCCTGACAGGCCTCAATTAT 0.532000 7 420 0 0 1 0 0 ANKRD20A5P 440482 broad.mit.edu 37 18 14184292 14184292 + RNA SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr18:14184292C>T ENST00000581935.1 + 0 981 lung(3) 3 CTTTATAAAACGCACTTTGGA 0.279000 10 8 0 0 1 0 0 ZFX 7543 broad.mit.edu 37 X 24197445 24197445 + Silent SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chrX:24197445T>C ENST00000379177.1 + 6 631 c.204T>C c.(202-204)atT>atC p.I68I ZFX_ENST00000338565.3_Silent_p.I68I|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000540034.1_Silent_p.I107I|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000379188.3_Silent_p.I68I|ZFX_ENST00000304543.5_Silent_p.I68I NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 AAGATGTTATTGAGGACGTTG 0.403000 4 254 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49447313 49447313 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:49447313G>T ENST00000301067.7 - 6 784 c.785C>A c.(784-786)gCc>gAc p.A262D NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.A262D(4)|p.L260fs*8(1) ACGTTTGCGGGCAGTCAGAGC 0.577000 11 54 6.42651e-13 7.77339e-13 1 1 0 STPG1 90529 broad.mit.edu 37 1 24700199 24700199 + Silent SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:24700199A>G ENST00000374409.1 - 6 818 c.564T>C c.(562-564)ccT>ccC p.P188P STPG1_ENST00000003583.8_Silent_p.P141P|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Silent_p.P188P|STPG1_ENST00000440416.1_Silent_p.P141P NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 TACCTGGGGGAGGTCCTTTAT 0.493000 7 797 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48221210 48221210 + Silent SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr16:48221210G>T ENST00000394747.1 - 20 3184 c.2835C>A c.(2833-2835)tcC>tcA p.S945S ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000356608.2_Silent_p.S945S|ABCC11_ENST00000394748.1_Silent_p.S945S|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Silent_p.S945S NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 945 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TCACCATTAAGGACAGGACCA 0.468000 8 169 1.06961e-07 1.23464e-07 1 1 0 C9orf64 84267 broad.mit.edu 37 9 86571165 86571165 + Missense_Mutation SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr9:86571165T>C ENST00000376344.3 - 1 467 c.251A>G c.(250-252)gAg>gGg p.E84G C9orf64_ENST00000376340.2_5'UTR|C9orf64_ENST00000314700.1_5'UTR NM_032307.3 NP_115683.3 Q5T6V5 CI064_HUMAN chromosome 9 open reading frame 64 84 central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 ACACTTGTGCTCGTCCTGCTC 0.597000 4 365 0 0 1 0 0 DIO1 1733 broad.mit.edu 37 1 54360161 54360161 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:54360161C>T ENST00000361921.3 + 1 302 c.278C>T c.(277-279)cCa>cTa p.P93L DIO1_ENST00000524406.1_5'UTR|DIO1_ENST00000525202.1_Intron|DIO1_ENST00000532493.1_Missense_Mutation_p.P93L|DIO1_ENST00000388876.3_Missense_Mutation_p.P93L|DIO1_ENST00000322679.6_Missense_Mutation_p.P93L|DIO1_ENST00000534069.1_3'UTR NM_000792.5|NM_213593.3 NP_000783.2|NP_998758.1 P49895 IOD1_HUMAN deiodinase, iodothyronine, type I 93 hormone biosynthetic process|thyroid hormone generation endoplasmic reticulum membrane|integral to membrane|plasma membrane selenium binding|thyroxine 5'-deiodinase activity cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1) 9 GGTCTGGCCCCAAACTGCCCG 0.547000 25 190 0 0 1 0 0 RNF19B 127544 broad.mit.edu 37 1 33402681 33402681 + Missense_Mutation SNP C C G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:33402681C>G ENST00000373456.7 - 9 1924 c.1925G>C c.(1924-1926)tGt>tCt p.C642S RNF19B_ENST00000235150.4_Missense_Mutation_p.C641S|RNF19B_ENST00000356990.5_3'UTR NM_153341.2 NP_699172.2 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B 642 integral to membrane ligase activity|protein binding|zinc ion binding p.C451S(1) endometrium(4)|kidney(2)|large_intestine(3)|lung(4) 13 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TTTCTGTTCACAGCTTTGGTG 0.552000 6 331 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21892083 21892083 + Splice_Site SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr7:21892083A>T ENST00000328843.6 + 68 10948 c.e68-1 DNAH11_ENST00000409508.3_Splice_Site Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GGTTTTTATTAGTTGGTATTG 0.403000 Kartagener syndrome 10 103 0 0 1 0 0 CHRNB2 1141 broad.mit.edu 37 1 154544277 154544277 + Silent SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:154544277C>A ENST00000368476.3 + 5 1242 c.978C>A c.(976-978)ccC>ccA p.P326P NM_000748.2 NP_000739.1 P17787 ACHB2_HUMAN cholinergic receptor, nicotinic, beta 2 (neuronal) 326 B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3) 28 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) ACCGCTCGCCCACCACGCACA 0.632000 6 151 0.0293803 0.0295265 1 1 0 FN1 2335 broad.mit.edu 37 2 216236992 216236992 + Silent SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:216236992C>A ENST00000354785.4 - 40 6723 c.6354G>T c.(6352-6354)ggG>ggT p.G2118G FN1_ENST00000446046.1_Silent_p.G2002G|FN1_ENST00000432072.2_Intron|FN1_ENST00000421182.1_Silent_p.G1912G|FN1_ENST00000359671.1_Silent_p.G2027G|FN1_ENST00000357867.4_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Silent_p.G1937G|FN1_ENST00000346544.3_Intron|FN1_ENST00000443816.1_Silent_p.G1937G|FN1_ENST00000336916.4_Silent_p.G2027G|FN1_ENST00000345488.5_Intron|FN1_ENST00000323926.6_Silent_p.G2118G P02751 FINC_HUMAN fibronectin 1 2027 Fibronectin type-III 16. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding p.G2027G(1)|p.G2118G(1) FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGTGTCATACCCAGGGTGGG 0.498000 67 104 1.34159e-35 1.66259e-35 1 1 0 C22orf42 150297 broad.mit.edu 37 22 32546391 32546391 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr22:32546391A>G ENST00000382097.3 - 7 641 c.569T>C c.(568-570)cTa>cCa p.L190P NM_001010859.1 NP_001010859.1 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 190 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2) 24 AGAGACAGATAGGCTTTCACT 0.438000 4 194 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70462203 70462203 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chrX:70462203C>T ENST00000373998.1 - 23 4280 c.3583G>A c.(3583-3585)Gtc>Atc p.V1195I ZMYM3_ENST00000373988.1_Missense_Mutation_p.V1209I|ZMYM3_ENST00000314425.5_Missense_Mutation_p.V1207I|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Missense_Mutation_p.V1207I|ZMYM3_ENST00000373984.3_Intron NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 1207 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TTGAGGAGGACAAAGGGCGAG 0.537000 19 174 0 0 1 0 0 SLC29A1 2030 broad.mit.edu 37 6 44198568 44198568 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr6:44198568G>A ENST00000393841.1 + 9 1199 c.708G>A c.(706-708)caG>caA p.Q236Q SLC29A1_ENST00000371731.1_Silent_p.Q236Q|SLC29A1_ENST00000371740.5_Silent_p.Q236Q|SLC29A1_ENST00000371724.1_Silent_p.Q236Q|SLC29A1_ENST00000313248.7_Silent_p.Q315Q|SLC29A1_ENST00000393844.1_Silent_p.Q236Q|SLC29A1_ENST00000371713.1_Silent_p.Q236Q|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Silent_p.Q236Q|SLC29A1_ENST00000371755.3_Silent_p.Q236Q|SLC29A1_ENST00000427851.2_Silent_p.Q236Q NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 236 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) GCTACTACCAGCAGCTCAAGC 0.542000 4 352 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48852194 48852194 + Nonsense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr8:48852194G>A ENST00000314191.2 - 11 1086 c.1030C>T c.(1030-1032)Cag>Tag p.Q344* PRKDC_ENST00000338368.3_Nonsense_Mutation_p.Q344*|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 344 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CCATAAAACTGCTCCATAAAG 0.318000 Non-homologous end-joining 4 65 0 0 1 0 0 AIFM2 84883 broad.mit.edu 37 10 71876416 71876416 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr10:71876416C>T ENST00000307864.1 - 7 944 c.731G>A c.(730-732)gGc>gAc p.G244D AIFM2_ENST00000482166.1_5'UTR|AIFM2_ENST00000373248.1_Missense_Mutation_p.G244D NM_001198696.1|NM_032797.5 NP_001185625.1|NP_116186.1 Q9BRQ8 AIFM2_HUMAN apoptosis-inducing factor, mitochondrion-associated, 2 244 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2) 16 GATCTTGATGCCGGTGCAGAG 0.567000 OREG0020234 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 248 0 0 1 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443935 5443935 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr11:5443935C>T ENST00000300778.4 + 1 595 c.505C>T c.(505-507)Cct>Tct p.P169S AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAAGCGACTGCCTTTCTGCCA 0.517000 7 695 0 0 1 0 0 CBL 867 broad.mit.edu 37 11 119149404 119149404 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr11:119149404A>G ENST00000264033.4 + 9 1788 c.1412A>G c.(1411-1413)aAg>aGg p.K471R NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 471 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) TTCATGATGAAGGAATTGGCT 0.463000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 3 137 0 0 1 0 0 BAZ1B 9031 broad.mit.edu 37 7 72856668 72856668 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr7:72856668A>G ENST00000339594.4 - 19 4648 c.4310T>C c.(4309-4311)gTg>gCg p.V1437A BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1437A NM_032408.3 NP_115784.1 Q9UIG0 BAZ1B_HUMAN bromodomain adjacent to zinc finger domain, 1B 1437 ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent WINAC complex ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding p.V1437A(1) NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Lung NSC(55;0.0659)|all_lung(88;0.152) CAACAGAGCCACTAGACACTG 0.493000 13 138 0 0 1 0 0 LRRN3 54674 broad.mit.edu 37 7 110763992 110763992 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr7:110763992C>T ENST00000451085.1 + 4 2210 c.1164C>T c.(1162-1164)ttC>ttT p.F388F IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000422987.3_Silent_p.F388F|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Silent_p.F388F|IMMP2L_ENST00000437687.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 388 LRRCT. integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ACATTCGATTCATGGAGCCAG 0.463000 7 187 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124377846 124377846 + Missense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:124377846C>A ENST00000409039.3 + 52 8733 c.8708C>A c.(8707-8709)gCt>gAt p.A2903D NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2903 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGACAGGAAGCTCTGAAGCAA 0.498000 4 175 0.184627 0.184627 1 1 0 KAT8 84148 broad.mit.edu 37 16 31141445 31141445 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr16:31141445G>A ENST00000543774.2 + 8 1214 c.879G>A c.(877-879)cgG>cgA p.R293R KAT8_ENST00000219797.4_Silent_p.R293R|KAT8_ENST00000448516.2_Silent_p.R293R Q9H7Z6 MYST1_HUMAN K(lysine) acetyltransferase 8 293 histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding AGGTGGACCGGCAGGGGGCCC 0.577000 5 410 0 0 1 0 0 CLC 1178 broad.mit.edu 37 19 40222097 40222097 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr19:40222097G>A ENST00000221804.4 - 4 427 c.352C>T c.(352-354)Cct>Tct p.P118S NM_001828.5 NP_001819.2 Q05315 LPPL_HUMAN Charcot-Leyden crystal galectin 118 Galectin. lipid catabolic process|multicellular organismal development carboxylesterase activity|lysophospholipase activity|sugar binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1) 12 all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06) Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255) Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23) GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655) ACAGCCTCAGGCTTGATTCTA 0.398000 8 685 0 0 1 0 0 ADGRG6 57211 broad.mit.edu 37 6 142691426 142691426 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr6:142691426G>A ENST00000230173.6 + 4 1041 c.565G>A c.(565-567)Gca>Aca p.A189T GPR126_ENST00000296932.8_Missense_Mutation_p.A189T|GPR126_ENST00000367609.3_Missense_Mutation_p.A189T|GPR126_ENST00000367608.2_Missense_Mutation_p.A189T|GPR126_ENST00000545477.1_Intron NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 189 Pentaxin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.A189T(1)|p.A188T(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) CTGCTTTGAAGCAACCAAAGT 0.438000 24 97 0 0 1 0 0 ACBD3 64746 broad.mit.edu 37 1 226340280 226340280 + Silent SNP T T G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:226340280T>G ENST00000366812.5 - 7 1185 c.1131A>C c.(1129-1131)cgA>cgC p.R377R RP11-275I14.4_ENST00000440540.1_RNA NM_022735.3 NP_073572.2 Q9H3P7 GCP60_HUMAN acyl-CoA binding domain containing 3 377 steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2) 20 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) TGATCTGAGGTCGTGTCCACA 0.468000 7 259 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155303879 155303879 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr3:155303879C>T ENST00000460012.1 - 5 842 c.485G>A c.(484-486)cGa>cAa p.R162Q PLCH1_ENST00000447496.2_Missense_Mutation_p.R180Q|PLCH1_ENST00000414191.1_Missense_Mutation_p.R162Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.R180Q|PLCH1_ENST00000334686.6_Missense_Mutation_p.R162Q|PLCH1_ENST00000494598.1_Missense_Mutation_p.R180Q Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 180 EF-hand 1. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GACTTTTCTTCGGGGCAGATT 0.363000 90 349 0 0 1 0 0 MOCOS 55034 broad.mit.edu 37 18 33795583 33795583 + Silent SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr18:33795583C>A ENST00000261326.5 + 8 1461 c.1440C>A c.(1438-1440)gcC>gcA p.A480A NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 480 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) ATGTCCAGGCCTTTCTTAGGT 0.552000 15 160 8.00594e-06 8.88571e-06 1 1 0 RFX2 5990 broad.mit.edu 37 19 6013023 6013023 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr19:6013023C>T ENST00000303657.5 - 8 1022 c.873G>A c.(871-873)cgG>cgA p.R291R RFX2_ENST00000359161.3_Silent_p.R291R|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Silent_p.R266R NM_000635.3 NP_000626.2 P48378 RFX2_HUMAN regulatory factor X, 2 (influences HLA class II expression) 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 TGGGCTGCTGCCGCATGGCCA 0.617000 5 372 0 0 1 0 0 EGR1 1958 broad.mit.edu 37 5 137802543 137802543 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr5:137802543C>T ENST00000239938.4 + 2 677 c.405C>T c.(403-405)ggC>ggT p.G135G NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 135 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) CCTATACTGGCCGCTTTTCCC 0.582000 5 92 0 0 1 0 0 PAQR3 152559 broad.mit.edu 37 4 79845029 79845029 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr4:79845029G>T ENST00000512733.1 - 5 988 c.775C>A c.(775-777)Cca>Aca p.P259T PAQR3_ENST00000295462.3_3'UTR|PAQR3_ENST00000380645.4_Missense_Mutation_p.P259T|PAQR3_ENST00000515541.1_Intron NM_001040202.1 NP_001035292.1 Q6TCH7 PAQR3_HUMAN progestin and adipoQ receptor family member III 259 Golgi membrane|integral to membrane receptor activity breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 8 TACCGCTCTGGGACTTTGGAA 0.373000 13 183 6.81908e-15 8.3482e-15 1 1 0 SYTL4 94121 broad.mit.edu 37 X 99955907 99955907 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chrX:99955907C>T ENST00000372981.1 - 5 711 c.525G>A c.(523-525)cgG>cgA p.R175R SYTL4_ENST00000276141.6_Silent_p.R175R|SYTL4_ENST00000263033.5_Silent_p.R175R|SYTL4_ENST00000454200.2_Silent_p.R175R|SYTL4_ENST00000372989.1_Silent_p.R175R|SYTL4_ENST00000455616.1_Silent_p.R175R Q96C24 SYTL4_HUMAN synaptotagmin-like 4 175 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCTCCTTCTGCCGCTCCTGAA 0.383000 4 330 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11411762 11411762 + Missense_Mutation SNP C C G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr5:11411762C>G ENST00000304623.8 - 5 514 c.325G>C c.(325-327)Ggt>Cgt p.G109R CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.G18R|CTNND2_ENST00000359640.2_Missense_Mutation_p.G109R|CTNND2_ENST00000511377.1_Missense_Mutation_p.G18R NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 109 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TCTTTTTGACCATCTGAAATG 0.338000 15 40 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119024975 119024975 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr11:119024975C>T ENST00000307417.3 + 4 726 c.362C>T c.(361-363)tCt>tTt p.S121F ABCG4_ENST00000531739.1_Missense_Mutation_p.S121F|ABCG4_ENST00000449422.2_Missense_Mutation_p.S121F NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 121 ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TGCAGGGAGTCTGGAATGAAG 0.542000 5 208 0 0 1 0 0 SIK2 23235 broad.mit.edu 37 11 111591712 111591712 + Missense_Mutation SNP A A C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr11:111591712A>C ENST00000304987.3 + 12 2043 c.1870A>C c.(1870-1872)Ata>Cta p.I624L NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 624 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.I624L(1) breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 GTATGAACAAATAGGACCGGA 0.507000 3 208 0 0 1 0 0 SLC44A2 57153 broad.mit.edu 37 19 10748947 10748947 + Nonsense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr19:10748947C>T ENST00000586078.1 + 20 1994 c.1885C>T c.(1885-1887)Cag>Tag p.Q629* SLC44A2_ENST00000335757.5_Nonsense_Mutation_p.Q629*|SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000407327.4_Nonsense_Mutation_p.Q627* NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 629 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) CAGGATCGTGCAGGATACAGC 0.502000 5 558 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155252835 155252835 + Missense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr4:155252835C>A ENST00000357232.3 - 10 2264 c.2265G>T c.(2263-2265)tgG>tgT p.W755C DCHS2_ENST00000339452.1_Intron NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 755 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CACCATCTGCCCAGGTTATGA 0.468000 5 48 0.0215528 0.0219882 1 1 0 PAX7 5081 broad.mit.edu 37 1 18962797 18962797 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:18962797C>T ENST00000420770.2 + 4 601 c.518C>T c.(517-519)gCg>gTg p.A173V PAX7_ENST00000375375.3_Missense_Mutation_p.A173V|PAX7_ENST00000400661.3_Missense_Mutation_p.A171V NM_001135254.1 NP_001128726.1 P23759 PAX7_HUMAN paired box 7 173 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2) 31 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) gaggatgaagcggacaagaag 0.527000 T FOXO1A alveolar rhabdomyosarcoma 4 166 0 0 1 0 0 SCMH1 22955 broad.mit.edu 37 1 41579034 41579034 + Nonsense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:41579034G>T ENST00000402904.2 - 8 1004 c.636C>A c.(634-636)tgC>tgA p.C212* SCMH1_ENST00000326197.7_Nonsense_Mutation_p.C212*|SCMH1_ENST00000361705.3_Nonsense_Mutation_p.C165*|SCMH1_ENST00000372597.1_Nonsense_Mutation_p.C165*|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000397171.2_Nonsense_Mutation_p.C151*|SCMH1_ENST00000372595.1_Nonsense_Mutation_p.C151*|SCMH1_ENST00000372596.1_Nonsense_Mutation_p.C151*|SCMH1_ENST00000337495.5_Nonsense_Mutation_p.C222*|SCMH1_ENST00000361191.5_Nonsense_Mutation_p.C151*|SCMH1_ENST00000397174.2_Nonsense_Mutation_p.C192* NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 212 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) AGTCGAAGCGGCACCAGTAGT 0.567000 3 70 2.56e-06 2.87289e-06 1 1 0 BID 637 broad.mit.edu 37 22 18220987 18220987 + Missense_Mutation SNP G G C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr22:18220987G>C ENST00000317361.7 - 5 836 c.510C>G c.(508-510)aaC>aaG p.N170K BID_ENST00000399767.1_Missense_Mutation_p.N28K|BID_ENST00000551952.1_Missense_Mutation_p.N124K|BID_ENST00000399774.3_Missense_Mutation_p.N124K|BID_ENST00000473439.1_5'UTR|BID_ENST00000399765.1_Missense_Mutation_p.N28K|BID_ENST00000342111.5_3'UTR NM_197966.2 NP_932070.1 P55957 BID_HUMAN BH3 interacting domain death agonist 124 activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria cytosol|membrane fraction|mitochondrial outer membrane death receptor binding p.N170K(1) large_intestine(2)|ovary(1) 3 all_epithelial(15;0.198) Lung(27;0.0419) CCAGGTCCCTGTTCCGGTCCT 0.557000 61 36 0 0 1 0 0 CEBPZ 10153 broad.mit.edu 37 2 37428925 37428925 + Silent SNP A A T rs148813970 by1000genomes TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:37428925A>T ENST00000234170.5 - 16 3292 c.3147T>A c.(3145-3147)acT>acA p.T1049T AC007390.5_ENST00000397064.2_Intron|AC007390.5_ENST00000392061.2_Intron|AC007390.5_ENST00000402297.1_Intron|AC007390.5_ENST00000406711.1_Intron|AC007390.5_ENST00000397226.2_Intron NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 1049 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) TTTGTTTTTTAGTTTTTTGAG 0.294000 3 21 0 0 1 0 0 METTL8 79828 broad.mit.edu 37 2 172196066 172196066 + Splice_Site SNP T T A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:172196066T>A ENST00000375258.3 - 4 451 c.e4-2 B3KW44 B3KW44_HUMAN methyltransferase like 8 methyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 11 CATACTTAACTAAAATAAAGA 0.269000 4 75 0 0 1 0 0 IL2RB 3560 broad.mit.edu 37 22 37524564 37524564 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr22:37524564G>A ENST00000216223.5 - 10 1426 c.1228C>T c.(1228-1230)Cct>Tct p.P410S NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 410 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) CCTGACAGAGGCTGCAGGGGT 0.652000 3 38 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627366 21627366 + Missense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chrX:21627366C>A ENST00000425654.2 + 19 2713 c.2233C>A c.(2233-2235)Cca>Aca p.P745T CNKSR2_ENST00000543067.1_Missense_Mutation_p.P726T|CNKSR2_ENST00000379510.3_Missense_Mutation_p.P775T|CNKSR2_ENST00000279451.4_Missense_Mutation_p.P775T NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 775 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 AATTGAGACGCCACTGACAAG 0.562000 22 172 2.44723e-14 2.97796e-14 1 1 0 ZNF860 344787 broad.mit.edu 37 3 32032046 32032046 + Missense_Mutation SNP G G A rs143925165 by1000genomes TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr3:32032046G>A ENST00000360311.4 + 2 2024 c.1475G>A c.(1474-1476)cGt>cAt p.R492H NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 492 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 AAGACCTTCCGTCACAATTCA 0.403000 3 94 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98743472 98743472 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr10:98743472G>T ENST00000286067.2 + 1 2432 c.2325G>T c.(2323-2325)gaG>gaT p.E775D NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 775 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CCCTAGATGAGGACGATGTTG 0.473000 4 124 2.0095e-06 2.2677e-06 1 1 0 CCDC62 84660 broad.mit.edu 37 12 123273471 123273471 + Missense_Mutation SNP T T A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:123273471T>A ENST00000253079.6 + 5 1009 c.665T>A c.(664-666)cTa>cAa p.L222Q CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000392441.4_Missense_Mutation_p.L222Q|CCDC62_ENST00000537566.1_Intron NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 222 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) GTCAACAAACTAAAAGGTAAG 0.358000 4 111 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1388456 1388456 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr4:1388456G>A ENST00000324803.4 + 1 3117 c.157G>A c.(157-159)Gcc>Acc p.A53T NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 53 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CATGTGGAGTGCCCGCCTGCT 0.642000 25 90 0 0 1 0 0 MLXIPL 51085 broad.mit.edu 37 7 73008695 73008695 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr7:73008695G>A ENST00000313375.3 - 16 2396 c.2349C>T c.(2347-2349)aaC>aaT p.N783N MLXIPL_ENST00000395189.1_Silent_p.N690N|MLXIPL_ENST00000354613.1_Silent_p.N762N|MLXIPL_ENST00000434326.1_Silent_p.N689N|MLXIPL_ENST00000429400.2_Silent_p.N764N|MLXIPL_ENST00000414749.2_Silent_p.N781N NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 783 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) ACACCATCCCGTTGAAGGACT 0.637000 6 127 0 0 1 0 0 MR1 3140 broad.mit.edu 37 1 181021607 181021607 + Missense_Mutation SNP G G C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:181021607G>C ENST00000367580.5 + 4 846 c.841G>C c.(841-843)Gag>Cag p.E281Q MR1_ENST00000434571.2_Intron|MR1_ENST00000438435.2_Intron|MR1_ENST00000367579.3_Missense_Mutation_p.E236Q|MR1_ENST00000282990.6_Intron NM_001531.2 NP_001522.1 Q95460 HMR1_HUMAN major histocompatibility complex, class I-related 281 Alpha-3.|Ig-like C1-type. antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 18 CTGTCATGTGGAGCACTGCGG 0.547000 12 75 0 0 1 0 0 YPEL1 29799 broad.mit.edu 37 22 22064992 22064992 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr22:22064992C>T ENST00000339468.3 - 2 425 c.42G>A c.(40-42)ctG>ctA p.L14L YPEL1_ENST00000403503.1_Silent_p.L14L NM_013313.3 NP_037445.1 O60688 YPEL1_HUMAN yippee-like 1 (Drosophila) 14 nucleus breast(1)|large_intestine(1)|lung(1) 3 Colorectal(54;0.105) GACAGTTCGGCAGATACGCTT 0.512000 7 795 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35506818 35506818 + Silent SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr17:35506818T>C ENST00000353139.5 - 45 6130 c.5649A>G c.(5647-5649)ttA>ttG p.L1883L ACACA_ENST00000335166.5_Silent_p.L1768L|ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000394406.2_Silent_p.L1846L|ACACA_ENST00000360679.3_Silent_p.L1788L NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1846 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTGTTAGAATTAAGTGAGAAT 0.423000 6 287 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49447312 49447312 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:49447312G>A ENST00000301067.7 - 6 785 c.786C>T c.(784-786)gcC>gcT p.A262A NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.A262D(2)|p.A262A(2)|p.L260fs*8(1) CACGTTTGCGGGCAGTCAGAG 0.577000 11 54 0 0 1 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45484587 45484587 + Nonsense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:45484587G>A ENST00000359600.5 - 14 3302 c.3097C>T c.(3097-3099)Cag>Tag p.Q1033* NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 1033 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TGAGTATCCTGGTTGTAGGCC 0.577000 OREG0013450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 313 0 0 1 0 0 KANSL3 55683 broad.mit.edu 37 2 97297120 97297120 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:97297120C>T ENST00000599854.1 - 3 521 c.54G>A c.(52-54)cgG>cgA p.R18R KANSL3_ENST00000441706.2_Silent_p.R18R|KANSL3_ENST00000440133.1_5'UTR|KANSL3_ENST00000435669.1_Silent_p.R18R|KANSL3_ENST00000431828.1_Silent_p.R105R|KANSL3_ENST00000487070.1_5'UTR NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 105 AGATGACATGCCGTTCACACT 0.527000 3 69 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183495733 183495733 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:183495733A>T ENST00000367537.3 + 6 597 c.402A>T c.(400-402)ttA>ttT p.L134F SMG7_ENST00000456731.2_Missense_Mutation_p.L63F|SMG7_ENST00000515829.2_Missense_Mutation_p.L105F|SMG7_ENST00000508461.1_Missense_Mutation_p.L63F|SMG7_ENST00000507406.1_3'UTR|SMG7_ENST00000347615.2_Missense_Mutation_p.L105F|SMG7_ENST00000507469.1_Missense_Mutation_p.L105F Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 105 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 TCTTTTAGTTATTACAAGAAC 0.348000 5 154 0 0 1 0 0 DRP2 1821 broad.mit.edu 37 X 100506047 100506047 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chrX:100506047A>G ENST00000395209.3 + 16 2367 c.1840A>G c.(1840-1842)Agg>Ggg p.R614G DRP2_ENST00000538510.1_Missense_Mutation_p.R614G|DRP2_ENST00000541709.1_Missense_Mutation_p.R536G|DRP2_ENST00000402866.1_Missense_Mutation_p.R614G NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 614 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 CTCTATCTGTAGGCAGTGCCC 0.463000 4 332 0 0 1 0 0 MICU2 221154 broad.mit.edu 37 13 22067484 22067484 + Silent SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr13:22067484T>C ENST00000382374.4 - 12 1274 c.1209A>G c.(1207-1209)caA>caG p.Q403Q MICU2_ENST00000479790.1_5'UTR NM_152726.2 NP_689939.1 mitochondrial calcium uptake 2 p.Q403Q(1) TACTCTGATGTTGTGGTACCT 0.333000 21 85 0 0 1 0 0 JUP 3728 broad.mit.edu 37 17 39919273 39919273 + Missense_Mutation SNP T T G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr17:39919273T>G ENST00000393931.3 - 8 1577 c.1459A>C c.(1459-1461)Aag>Cag p.K487Q JUP_ENST00000393930.1_Missense_Mutation_p.K487Q|JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.K487Q NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 487 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity p.K487Q(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) TTGAGCAGCTTCACGATGGCT 0.607000 19 63 0 0 1 0 0 ENO1 2023 broad.mit.edu 37 1 8928107 8928107 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:8928107C>T ENST00000234590.4 - 5 369 c.250G>A c.(250-252)Gtc>Atc p.V84I NM_001428.3 NP_001419.1 P06733 ENOA_HUMAN enolase 1, (alpha) 84 gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) TGTTCTGTGACGTTCAGTTTC 0.478000 18 3348 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70591810 70591810 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr8:70591810C>T ENST00000260126.3 - 8 2533 c.1827G>A c.(1825-1827)gtG>gtA p.V609V SLCO5A1_ENST00000524945.1_Silent_p.V609V|SLCO5A1_ENST00000530307.1_Silent_p.V554V NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 609 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GTGGAGTGATCACTTGGCGAC 0.458000 13 466 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21733438 21733438 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:21733438C>T ENST00000261195.2 - 2 395 c.141G>A c.(139-141)gtG>gtA p.V47V NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 47 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TTGTCTGAATCACAGTATAGA 0.353000 10 148 0 0 1 0 0 FASTKD2 22868 broad.mit.edu 37 2 207631976 207631976 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:207631976G>A ENST00000236980.6 + 2 907 c.559G>A c.(559-561)Gca>Aca p.A187T FASTKD2_ENST00000403094.3_Missense_Mutation_p.A187T|FASTKD2_ENST00000402774.3_Missense_Mutation_p.A187T NM_014929.3 NP_055744.2 Q9NYY8 FAKD2_HUMAN FAST kinase domains 2 187 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2) 21 LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138) CTATTTCACAGCAATGTGGAC 0.408000 4 418 0 0 1 0 0 IGHG3 3502 broad.mit.edu 37 14 106237582 106237582 + RNA SNP C C T rs2983776 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr14:106237582C>T ENST00000390551.2 - 0 160 GTAGGACAGCCGGGAAGGTGT 0.637000 4 172 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736257 140736257 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr5:140736257A>G ENST00000571252.1 + 1 1490 c.1490A>G c.(1489-1491)cAg>cGg p.Q497R PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACACCTTCCAGGGTGCACCT 0.512000 5 301 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145015865 145015865 + Nonsense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:145015865C>A ENST00000369359.4 - 3 474 c.436G>T c.(436-438)Gag>Tag p.E146* PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.E146*|PDE4DIP_ENST00000478649.2_Nonsense_Mutation_p.E75*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.E75*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.E146*|PDE4DIP_ENST00000493130.2_Nonsense_Mutation_p.E75* Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 9 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTTACCTTCTCAAAGTCTCGA 0.443000 T PDGFRB MPD 15 1884 7.48243e-07 8.53927e-07 1 1 0 HOXD13 3239 broad.mit.edu 37 2 176959247 176959247 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:176959247G>T ENST00000392539.3 + 2 821 c.821G>T c.(820-822)cGa>cTa p.R274L NM_000523.3 NP_000514.2 P35453 HXD13_HUMAN homeobox D13 274 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) TGCGTCTACCGAAGAGGGAGG 0.468000 T NUP98 AML* 7 78 0.0293803 0.0295265 1 1 0 SLC6A5 9152 broad.mit.edu 37 11 20658745 20658745 + Missense_Mutation SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr11:20658745T>C ENST00000525748.1 + 12 2038 c.1765T>C c.(1765-1767)Tcc>Ccc p.S589P SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 589 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) CATAGTGACCTCCATCTCAGA 0.483000 4 460 0 0 1 0 0 THADA 63892 broad.mit.edu 37 2 43799003 43799003 + Splice_Site SNP T T A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:43799003T>A ENST00000403856.1 - 14 2056 c.e14-2 THADA_ENST00000402360.2_Splice_Site|THADA_ENST00000405006.4_Splice_Site|THADA_ENST00000415080.2_Splice_Site|THADA_ENST00000405975.2_Splice_Site|THADA_ENST00000404790.1_Splice_Site|THADA_ENST00000330266.7_Splice_Site Q6YHU6 THADA_HUMAN thyroid adenoma associated binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TATCCTTACCTAAAAAACATC 0.318000 4 121 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100361427 100361427 + RNA SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr7:100361427A>G ENST00000542585.1 + 0 4134 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane p.?(2) NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGTCTCTTGCAGGTGTCAGAA 0.587000 24 100 0 0 1 0 0 RRM1 6240 broad.mit.edu 37 11 4153518 4153518 + Missense_Mutation SNP A A T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr11:4153518A>T ENST00000300738.5 + 16 1976 c.1772A>T c.(1771-1773)tAt>tTt p.Y591F RRM1_ENST00000537197.1_Missense_Mutation_p.Y253F|RRM1_ENST00000534285.1_Missense_Mutation_p.Y369F|RRM1_ENST00000423050.2_Missense_Mutation_p.Y494F NM_001033.3 NP_001024.1 P23921 RIR1_HUMAN ribonucleotide reductase M1 591 deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex ATP binding|ribonucleoside-diphosphate reductase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2) 14 Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205) Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005) TTCTTTAGGTATGGTATAAGA 0.408000 4 125 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26492018 26492018 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr10:26492018G>A ENST00000265944.5 + 34 4878 c.4712G>A c.(4711-4713)tGt>tAt p.C1571Y MYO3A_ENST00000478093.1_3'UTR|MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1571 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CAGAATCAATGTATTAAGGCT 0.318000 32 145 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369991 20369991 + RNA SNP T T C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr19:20369991T>C ENST00000593655.1 - 0 199 GTCATCACGGTTGAAACGAGA 0.413000 17 117 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139371797 139371797 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr9:139371797C>T ENST00000313050.7 - 1 344 c.271G>A c.(271-273)Ggt>Agt p.G91S NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 2055 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) ACAAGCAAACCGGGGTGCTGA 0.587000 4 358 0 0 1 0 0 BAIAP2L1 55971 broad.mit.edu 37 7 97949408 97949408 + Silent SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr7:97949408G>A ENST00000005260.8 - 5 525 c.310C>T c.(310-312)Ctg>Ttg p.L104L BAIAP2L1_ENST00000462558.1_5'UTR NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 104 IMD. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) TTCTTCTCCAGCTCATGGATA 0.403000 5 933 0 0 1 0 0 RNPEP 6051 broad.mit.edu 37 1 201970826 201970826 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:201970826G>A ENST00000295640.4 + 8 1400 c.1357G>A c.(1357-1359)Gat>Aat p.D453N RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.D414N NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 453 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) CATCTTAGCCGATGACTTTCT 0.488000 4 348 0 0 1 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140740059 140740059 + Missense_Mutation SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr5:140740059A>G ENST00000522605.1 + 1 357 c.357A>G c.(355-357)atA>atG p.I119M PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTTCTACATAGCAGTAATTG 0.383000 5 776 0 0 1 0 0 PABPC3 5042 broad.mit.edu 37 13 25671044 25671044 + Silent SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr13:25671044A>G ENST00000281589.3 + 1 745 c.708A>G c.(706-708)gtA>gtG p.V236V NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 236 RRM 3. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TTGGATTTGTAAGCTTTGAAA 0.418000 8 1400 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77331192 77331192 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr16:77331192G>A ENST00000282849.5 - 18 3213 c.2795C>T c.(2794-2796)cCg>cTg p.P932L NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 932 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TTACTAAGCCGGGCAGGAGAA 0.398000 4 436 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580124 140580124 + Translation_Start_Site SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr5:140580124G>A ENST00000536699.1 + 0 245 PCDHB11_ENST00000354757.3_Silent_p.S259S Q9Y5F2 PCDBB_HUMAN calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCTTGGCTCGCTGATTTTGA 0.438000 5 352 0 0 1 0 0 TBX1 6899 broad.mit.edu 37 22 19766760 19766760 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr22:19766760G>T ENST00000329705.7 + 9 1156 c.1027G>T c.(1027-1029)Gac>Tac p.D343Y TBX1_ENST00000359500.3_Intron NM_080646.1 NP_542377.1 O43435 TBX1_HUMAN T-box 1 343 embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development nucleus protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|lung(3)|ovary(2) 8 Colorectal(54;0.0993) all_lung(157;3.05e-06) TGTCCTGAAGGACAAGGAAGT 0.537000 19 148 3.51602e-12 4.22759e-12 1 1 0 C1orf43 25912 broad.mit.edu 37 1 154184845 154184845 + Nonsense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:154184845G>A ENST00000368521.5 - 6 715 c.517C>T c.(517-519)Cag>Tag p.Q173* C1orf43_ENST00000368519.1_Nonsense_Mutation_p.Q155*|C1orf43_ENST00000362076.4_Nonsense_Mutation_p.Q121*|C1orf43_ENST00000368518.1_Nonsense_Mutation_p.Q173*|C1orf43_ENST00000368516.1_Nonsense_Mutation_p.Q139*|C1orf43_ENST00000350592.3_Nonsense_Mutation_p.Q139* NM_001098616.1 NP_001092086.1 Q9BWL3 CA043_HUMAN chromosome 1 open reading frame 43 173 integral to membrane coenzyme binding|oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 10 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) TACTCATTCTGGCCAAAGACC 0.522000 6 1083 0 0 1 0 0 GNB5 10681 broad.mit.edu 37 15 52427899 52427899 + Missense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr15:52427899G>T ENST00000261837.7 - 8 747 c.682C>A c.(682-684)Cag>Aag p.Q228K CTD-2184D3.7_ENST00000557898.1_RNA|GNB5_ENST00000396335.4_Missense_Mutation_p.Q116K|GNB5_ENST00000358784.7_Missense_Mutation_p.Q186K|GNB5_ENST00000559348.1_5'UTR NM_016194.3 NP_057278.2 O14775 GBB5_HUMAN guanine nucleotide binding protein (G protein), beta 5 228 heterotrimeric G-protein complex GTPase activity|signal transducer activity large_intestine(1)|lung(1) 2 all cancers(107;0.0163) TGCAGCAGCTGCCCGCTCTCC 0.597000 8 209 1.76689e-08 2.06308e-08 1 1 0 KRT85 3891 broad.mit.edu 37 12 52755264 52755264 + Silent SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:52755264G>T ENST00000257901.3 - 8 1392 c.1317C>A c.(1315-1317)ggC>ggA p.G439G KRT85_ENST00000544265.1_Silent_p.G227G NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 439 Tail. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CATTCACAGAGCCCACACCTT 0.463000 130 822 9.36667e-95 1.16794e-94 1 1 0 PC 5091 broad.mit.edu 37 11 66617533 66617533 + Nonsense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr11:66617533C>A ENST00000393960.1 - 20 3054 c.2773G>T c.(2773-2775)Gga>Tga p.G925* PC_ENST00000529047.1_Nonsense_Mutation_p.G45*|PC_ENST00000393955.2_Nonsense_Mutation_p.G925*|PC_ENST00000393958.2_Nonsense_Mutation_p.G925* NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 925 gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CGGCTCAATCCATTCTGCACC 0.637000 3 61 6.4e-05 6.98811e-05 1 1 0 FCAR 2204 broad.mit.edu 37 19 55401088 55401088 + Missense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr19:55401088C>A ENST00000391723.3 + 4 613 c.613C>A c.(613-615)Ctt>Att p.L205I FCAR_ENST00000353758.4_Silent_p.L132L|FCAR_ENST00000391725.3_Silent_p.L219L|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391726.3_Silent_p.L133L|FCAR_ENST00000359272.4_Silent_p.L229L|FCAR_ENST00000391724.3_Silent_p.L207L|FCAR_ENST00000345937.4_Silent_p.L145L|FCAR_ENST00000355524.3_Silent_p.L241L NM_133274.2 NP_579808.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 0 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) TCGTGGCTCTCTTGGCCATAC 0.537000 6 322 8.12818e-05 8.82738e-05 1 1 0 VEZT 55591 broad.mit.edu 37 12 95694432 95694432 + Nonsense_Mutation SNP G G T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:95694432G>T ENST00000436874.1 + 12 2428 c.2323G>T c.(2323-2325)Gag>Tag p.E775* VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Nonsense_Mutation_p.E727* NM_017599.3 NP_060069.3 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane protein 775 acrosomal vesicle|adherens junction|integral to membrane|nucleus endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1) 23 AAATAAAAATGAGATAGAAGA 0.368000 3 32 0.004672 0.00486466 1 1 0 TLR7 51284 broad.mit.edu 37 X 12903798 12903798 + Silent SNP A A G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chrX:12903798A>G ENST00000380659.3 + 3 310 c.171A>G c.(169-171)acA>acG p.T57T NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 57 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) AGCATTTGACAGAAATTCCTG 0.498000 5 787 0 0 1 0 0 CLK4 57396 broad.mit.edu 37 5 178050411 178050411 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr5:178050411G>A ENST00000316308.4 - 2 175 c.7C>T c.(7-9)Cat>Tat p.H3Y CLK4_ENST00000520957.1_Missense_Mutation_p.H3Y NM_020666.2 NP_065717.1 Q9HAZ1 CLK4_HUMAN CDC-like kinase 4 3 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2) 21 all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918) all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.235) CTTTTGGAATGCCGCATCTGT 0.378000 4 157 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73225581 73225581 + Missense_Mutation SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr9:73225581C>T ENST00000377110.2 - 18 2818 c.2575G>A c.(2575-2577)Ggc>Agc p.G859S TRPM3_ENST00000358082.3_Missense_Mutation_p.G721S|TRPM3_ENST00000396280.5_Missense_Mutation_p.G708S|TRPM3_ENST00000377111.2_Missense_Mutation_p.G859S|TRPM3_ENST00000360823.2_Missense_Mutation_p.G721S|TRPM3_ENST00000396285.1_Missense_Mutation_p.G706S|TRPM3_ENST00000396292.4_Missense_Mutation_p.G731S|TRPM3_ENST00000357533.2_Missense_Mutation_p.G863S|TRPM3_ENST00000423814.3_Missense_Mutation_p.G886S|TRPM3_ENST00000377105.1_Missense_Mutation_p.G718S|TRPM3_ENST00000377106.1_Missense_Mutation_p.G731S|TRPM3_ENST00000408909.2_Missense_Mutation_p.G718S NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 884 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 ATTTTTCTGCCGAGGGGGATT 0.473000 6 623 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97427127 97427127 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:97427127G>A ENST00000377075.2 + 1 489 c.391G>A c.(391-393)Gtg>Atg p.V131M NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 131 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 CACGTCCGGCGTGCTGGTGGT 0.657000 3 108 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5969065 5969065 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr11:5969065C>T ENST00000329564.6 + 1 496 c.489C>T c.(487-489)atC>atT p.I163I NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCTGCCCATCCCCATCCTTT 0.443000 6 236 0 0 1 0 0 MLF2 8079 broad.mit.edu 37 12 6859100 6859100 + Missense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:6859100C>A ENST00000203630.5 - 7 1117 c.473G>T c.(472-474)cGg>cTg p.R158L MLF2_ENST00000542154.1_Missense_Mutation_p.R158L|MLF2_ENST00000539187.1_Missense_Mutation_p.R158L|MLF2_ENST00000435120.1_Missense_Mutation_p.R158L Q15773 MLF2_HUMAN myeloid leukemia factor 2 158 defense response cytoplasm|nucleus protein binding kidney(2)|large_intestine(3)|lung(4) 9 AGCCCTGTCCCGGATGTGATG 0.597000 7 183 0.0293803 0.0295265 1 1 0 ACKR4 51554 broad.mit.edu 37 3 132319326 132319326 + Silent SNP C C T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr3:132319326C>T ENST00000249887.2 + 2 181 c.85C>T c.(85-87)Ctg>Ttg p.L29L ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron NM_016557.2|NM_178445.2 NP_057641.1|NP_848540.1 atypical chemokine receptor 4 p.L29L(1) TCAATATGAACTGATCTGTAT 0.378000 3 52 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47958049 47958049 + Missense_Mutation SNP T T A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr3:47958049T>A ENST00000426837.2 - 8 1406 c.1319A>T c.(1318-1320)gAc>gTc p.D440V MAP4_ENST00000395734.3_Missense_Mutation_p.D423V|MAP4_ENST00000360240.6_Missense_Mutation_p.D423V|MAP4_ENST00000383737.4_Intron P27816 MAP4_HUMAN microtubule-associated protein 4 423 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TGATATAATGTCATTAGCCTG 0.493000 6 565 0 0 1 0 0 ESYT1 23344 broad.mit.edu 37 12 56531150 56531150 + Missense_Mutation SNP G G A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:56531150G>A ENST00000394048.5 + 17 2195 c.1931G>A c.(1930-1932)gGg>gAg p.G644E ESYT1_ENST00000267113.4_Missense_Mutation_p.G654E|ESYT1_ENST00000541590.1_Missense_Mutation_p.G654E NM_001184796.1|NM_015292.2 NP_001171725.1|NP_056107.1 Q9BSJ8 ESYT1_HUMAN extended synaptotagmin-like protein 1 644 C2 3. integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 AGCCAGTTTGGGACTGAGGTG 0.547000 3 124 0 0 1 0 0 SLC5A1 6523 broad.mit.edu 37 22 32495254 32495254 + Nonsense_Mutation SNP C C A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr22:32495254C>A ENST00000266088.4 + 12 1615 c.1365C>A c.(1363-1365)taC>taA p.Y455* SLC5A1_ENST00000543737.1_Nonsense_Mutation_p.Y328* NM_000343.3 NP_000334.1 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose cotransporter), member 1 455 carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 37 TCTTCGATTACATCCAGTCCA 0.502000 6 599 0.00307968 0.00324008 1 1 0 ERRFI1 54206 broad.mit.edu 37 1 8073803 8073804 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:8073803_8073804insG ENST00000377482.5 - 4 1078_1079 c.855_856insC c.(853-858)ccgagtfs p.S286fs ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000467067.1_3'UTR NM_018948.3 NP_061821.1 Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 286 lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis cytoplasm|extrinsic to internal side of plasma membrane|nucleus protein kinase binding|Rho GTPase activator activity breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2) 16 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) ATGGGAACTCTGGGGGGAACCT 0.475 7 537 --- --- --- --- VPS13D 55187 broad.mit.edu 37 1 12422832 12422833 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:12422832_12422833insC ENST00000358136.3 + 51 10328_10329 c.10198_10199insC c.(10198-10200)cccfs p.P3400fs VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.P3375fs NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3399 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGTCATCTTTGCCCCCCGTTAC 0.426 10 549 --- --- --- --- ESPNP 284729 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 4 4 --- --- --- --- RAP1GAP 5909 broad.mit.edu 37 1 21936093 21936094 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:21936093_21936094insG ENST00000542643.2 - 16 1347_1348 c.1045_1046insC c.(1045-1047)cccfs p.P349fs RAP1GAP_ENST00000374765.4_Frame_Shift_Ins_p.P349fs|RAP1GAP_ENST00000290101.4_Frame_Shift_Ins_p.P413fs|RAP1GAP_ENST00000374763.2_Frame_Shift_Ins_p.P349fs|RAP1GAP_ENST00000374761.2_Frame_Shift_Ins_p.P380fs NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 349 Rap-GAP. regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GGGGTCCGGGAGGGGGGGTCCA 0.634 18 443 --- --- --- --- LUZP1 7798 broad.mit.edu 37 1 23417944 23417945 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:23417944_23417945insG ENST00000302291.4 - 4 3611_3612 c.2810_2811insC c.(2809-2811)cacfs p.H937fs LUZP1_ENST00000418342.1_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000314174.5_Frame_Shift_Ins_p.H937fs|LUZP1_ENST00000374623.3_Frame_Shift_Ins_p.H937fs Q86V48 LUZP1_HUMAN leucine zipper protein 1 937 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) CTATTCGAGTTGGGGGGTCTTC 0.495 7 747 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27105930 27105931 + Frame_Shift_Ins INS - - G rs140055856 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:27105930_27105931insG ENST00000324856.7 + 20 5912_5913 c.5541_5542insG c.(5539-5544)ggggggfs p.GG1847fs ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1847 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.G1848fs*6(3) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGCGGATTGGTGGGGGGGACAC 0.579 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 7 212 --- --- --- --- THEMIS2 9473 broad.mit.edu 37 1 28209480 28209481 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:28209480_28209481insC ENST00000373921.3 + 4 1649_1650 c.1645_1646insC c.(1645-1647)cccfs p.P549fs THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000328928.7_Frame_Shift_Ins_p.P420fs|THEMIS2_ENST00000373927.3_Intron NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 TGAGATCCAAGCCCCCCCACCC 0.574 13 302 --- --- --- --- PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 13 494 --- --- --- --- MAP7D1 55700 broad.mit.edu 37 1 36636586 36636587 + Frame_Shift_Ins INS - - C rs145462639 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:36636586_36636587insC ENST00000316156.4 + 2 514_515 c.61_62insC c.(61-63)cccfs p.P21fs MAP7D1_ENST00000373150.4_Frame_Shift_Ins_p.P21fs|MAP7D1_ENST00000373151.2_Frame_Shift_Ins_p.P21fs Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 21 Pro-rich. cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) GGTCGCCAGGACCCCCCCAGAG 0.614 8 340 --- --- --- --- ZMYND12 84217 broad.mit.edu 37 1 42898878 42898879 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:42898878_42898879insG ENST00000372565.3 - 7 1179_1180 c.910_911insC c.(910-912)aaafs p.K304fs ZMYND12_ENST00000475426.1_5'UTR|ZMYND12_ENST00000433602.2_Frame_Shift_Ins_p.K194fs NM_032257.4 NP_115633.3 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 304 intracellular zinc ion binding NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2) 17 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GATGGTTTTTTGGGGGGCTTTG 0.411 14 1287 --- --- --- --- TIE1 7075 broad.mit.edu 37 1 43778814 43778815 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:43778814_43778815insC ENST00000372476.3 + 13 2015_2016 c.1936_1937insC c.(1936-1938)cccfs p.P646fs TIE1_ENST00000433781.2_Frame_Shift_Ins_p.P291fs NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 646 Fibronectin type-III 3. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGGGCCTCCAGCCCCCCGACAC 0.629 7 147 --- --- --- --- ELOVL1 64834 broad.mit.edu 37 1 43830227 43830228 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:43830227_43830228insC ENST00000372458.3 - 6 583_584 c.466_467insG c.(466-468)aaafs p.K156fs ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Frame_Shift_Ins_p.K129fs NM_001256399.1|NM_001256402.1|NM_022821.3 NP_001243328.1|NP_001243331.1|NP_073732.1 Q9BW60 ELOV1_HUMAN ELOVL fatty acid elongase 1 156 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|prostate(1) 4 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGCAATCTTTACCCCCCACCAC 0.550 7 314 --- --- --- --- RNF220 55182 broad.mit.edu 37 1 44878032 44878033 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:44878032_44878033insC ENST00000355387.2 + 2 713_714 c.263_264insC c.(262-264)tccfs p.S88fs RNF220_ENST00000372247.2_Frame_Shift_Ins_p.S88fs|RNF220_ENST00000361799.2_Frame_Shift_Ins_p.S88fs Q5VTB9 RN220_HUMAN ring finger protein 220 88 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 AATCGTGATTTCCCCCCTTCTC 0.515 8 1655 --- --- --- --- ELAVL4 1996 broad.mit.edu 37 1 50666498 50666499 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:50666498_50666499insC ENST00000371821.1 + 7 1121_1122 c.806_807insC c.(805-807)gccfs p.A269fs ELAVL4_ENST00000371823.4_Frame_Shift_Ins_p.A264fs|ELAVL4_ENST00000371824.1_Intron|ELAVL4_ENST00000371819.1_Intron|ELAVL4_ENST00000357083.4_Intron|ELAVL4_ENST00000371827.1_Intron|ELAVL4_ENST00000448907.2_Intron P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 264 mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 TCTGGACCAGTCCCCCCTTCTG 0.530 10 460 --- --- --- --- ZCCHC11 23318 broad.mit.edu 37 1 52981531 52981532 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:52981531_52981532insC ENST00000355809.4 - 3 1069_1070 c.913_914insG c.(913-915)aatfs p.N305fs ZCCHC11_ENST00000371544.3_Intron|ZCCHC11_ENST00000257177.4_Intron|ZCCHC11_ENST00000371541.1_Intron Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 0 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 AACACACATTTCCCCCCAAATA 0.366 8 196 --- --- --- --- FAM151A 338094 broad.mit.edu 37 1 55081756 55081757 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:55081756_55081757insG ENST00000302250.2 - 3 511_512 c.351_352insC c.(349-354)ccctatfs p.Y118fs FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs|ACOT11_ENST00000371316.3_Intron NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 118 integral to membrane p.T118fs*43(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CTGTAGATAGTGGGGGGGTGTG 0.594 15 304 --- --- --- --- FGGY 55277 broad.mit.edu 37 1 59812016 59812017 + Frame_Shift_Ins INS - - G rs145440779 by1000genomes TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:59812016_59812017insG ENST00000371218.4 + 4 595_596 c.411_412insG c.(409-414)gtggggfs p.VG137fs FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000474476.1_3'UTR NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 137 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) TCCAGTACGTCGGGGGGGTGAT 0.500 15 227 --- --- --- --- ROR1 4919 broad.mit.edu 37 1 64516358 64516359 + Splice_Site INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:64516358_64516359insC ENST00000371079.1 + 4 827_828 c.451_splice c.e4-1 p.A151_splice ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Splice_Site_p.A151_splice NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 151 transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 ATTTCTTCAGGCCCCCCTCCCA 0.396 9 582 --- --- --- --- CACHD1 57685 broad.mit.edu 37 1 65157116 65157117 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:65157116_65157117insC ENST00000371073.2 + 27 3697_3698 c.3697_3698insC c.(3697-3699)cccfs p.P1233fs CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 1233 calcium ion transport integral to membrane p.Q1185fs*23(1) breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 AGACCTGGATACCCCCCCTCAG 0.554 7 135 --- --- --- --- LRRC8C 84230 broad.mit.edu 37 1 90179646 90179647 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:90179646_90179647insC ENST00000370454.4 + 3 1772_1773 c.1517_1518insC c.(1516-1518)cccfs p.P506fs LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron NM_032270.4 NP_115646.2 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 506 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) ATGAGGGAACTCCCCCCCTGGA 0.500 7 114 --- --- --- --- EPHX4 253152 broad.mit.edu 37 1 92511121 92511122 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:92511121_92511122insG ENST00000370383.4 + 4 606_607 c.508_509insG c.(508-510)gggfs p.G170fs NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 170 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 TGGCCATGACTGGGGGGGCATG 0.386 17 318 --- --- --- --- STXBP3 6814 broad.mit.edu 37 1 109325098 109325098 + Frame_Shift_Del DEL C C - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:109325098delC ENST00000370008.3 + 10 914 c.864delC c.(862-864)ctfs p.L288fs NM_007269.2 NP_009200.2 O00186 STXB3_HUMAN syntaxin binding protein 3 288 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1) 13 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) AAGATGACCTCTGGGTTAGAA 0.343 7 377 --- --- --- --- DENND2D 79961 broad.mit.edu 37 1 111742337 111742338 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:111742337_111742338insC ENST00000357640.4 - 2 379_380 c.150_151insG c.(148-153)ggagcafs p.A51fs DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Frame_Shift_Ins_p.A48fs NM_024901.3 NP_079177.2 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 51 breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) AAGAAGTGCTGCCCCCCAGCAA 0.485 8 151 --- --- --- --- OVGP1 5016 broad.mit.edu 37 1 111959046 111959047 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:111959046_111959047insC ENST00000369732.3 - 10 1109_1110 c.1054_1055insG c.(1054-1056)catfs p.H352fs OVGP1_ENST00000540696.1_3'UTR NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 352 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CCACACCATGGCCCCCCCAAAA 0.505 22 248 --- --- --- --- HIPK1 204851 broad.mit.edu 37 1 114515697 114515698 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:114515697_114515698insC ENST00000369558.1 + 16 3428_3429 c.3196_3197insC c.(3196-3198)cccfs p.P1066fs HIPK1_ENST00000369553.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000369561.4_Frame_Shift_Ins_p.P1032fs|HIPK1_ENST00000340480.4_Frame_Shift_Ins_p.P692fs|HIPK1_ENST00000369554.2_Frame_Shift_Ins_p.P1021fs|HIPK1_ENST00000406344.1_Frame_Shift_Ins_p.P672fs|HIPK1_ENST00000426820.2_Frame_Shift_Ins_p.P1066fs|HIPK1_ENST00000369555.2_Frame_Shift_Ins_p.P1021fs Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 1066 Interaction with TP53. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGCAACCCAGCCCCCCGCAGG 0.614 11 344 --- --- --- --- SPAG17 200162 broad.mit.edu 37 1 118584454 118584455 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:118584454_118584455insG ENST00000336338.5 - 21 3090_3091 c.3025_3026insC c.(3025-3027)ccafs p.P1009fs NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1009 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTCTGGTTGGTGGGGGGACTCT 0.371 9 753 --- --- --- --- ITGA10 8515 broad.mit.edu 37 1 145534121 145534122 + Frame_Shift_Ins INS - - C rs147270843 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:145534121_145534122insC ENST00000369304.3 + 14 1801_1802 c.1626_1627insC c.(1624-1629)gaccccfs p.DP542fs ITGA10_ENST00000539363.1_Frame_Shift_Ins_p.DP399fs|ITGA10_ENST00000538811.1_Frame_Shift_Ins_p.DP411fs NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 542 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCAGCCAGAACCCCCCCAGGA 0.554 14 294 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145584022 145584023 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:145584022_145584023insC ENST00000393045.2 + 10 1343_1344 c.1253_1254insC c.(1252-1254)tccfs p.S418fs PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 418 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCTGAGGTTTGCCCCCCGCCAG 0.500 13 543 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145585532 145585533 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:145585532_145585533insG ENST00000393045.2 + 14 1887_1888 c.1797_1798insG c.(1795-1800)ccggggfs p.PG599fs PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.PG564fs NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 599 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTGTGGCCCCTGGGGGGGCCTT 0.663 9 182 --- --- --- --- SV2A 9900 broad.mit.edu 37 1 149885018 149885019 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:149885018_149885019insC ENST00000369146.3 - 2 864_865 c.374_375insG c.(373-375)gttfs p.V125fs SV2A_ENST00000369145.1_Frame_Shift_Ins_p.V125fs NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 125 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CATCACTCAAGCCCCCCCTTAC 0.629 9 168 --- --- --- --- TARS2 80222 broad.mit.edu 37 1 150477198 150477199 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:150477198_150477199insG ENST00000369064.3 + 15 1843_1844 c.1809_1810insG c.(1807-1812)tgggggfs p.WG603fs TARS2_ENST00000606933.1_Frame_Shift_Ins_p.WG521fs|TARS2_ENST00000369054.2_Frame_Shift_Ins_p.WG473fs NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 603 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity p.C603C(2)|p.G604W(1) cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 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;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CAGAAAGCTGCGGGGGGAAATG 0.569 9 408 --- --- --- --- ZNF687 57592 broad.mit.edu 37 1 151258868 151258869 + Frame_Shift_Ins INS - - TGGG TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:151258868_151258869insTGGG ENST00000368879.2 + 2 199_200 c.101_102insTGGG c.(100-102)agafs p.R34fs NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 34 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCAGAAGAAAATGAGGGGCCTG 0.550 26 371 --- --- --- --- RFX5 5993 broad.mit.edu 37 1 151318740 151318741 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:151318740_151318741insG ENST00000290524.4 - 3 234_235 c.56_57insC c.(55-57)cggfs p.R19fs RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 19 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CAGCACCACCTGGGGGGGCCCT 0.554 16 288 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152279150 152279151 + Frame_Shift_Ins INS - - AGATCCTG TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:152279150_152279151insAGATCCTG ENST00000368799.1 - 3 8246_8247 c.8211_8212insCAGGATCT c.(8209-8214)tctcctfs p.P2738fs FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2738 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGTAGAGGAAAGATCCTGAAT 0.594 Ichthyosis 7 131 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324471 152324472 + In_Frame_Ins INS - - AGTGGTATCTCT TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:152324471_152324472insAGTGGTATCTCT ENST00000388718.5 - 3 5862_5863 c.5790_5791insAGAGATACCACT c.(5788-5793)acaaca>acAGAGATACCACTaaca p.1930_1931TT>TEIPLT FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1930 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGCCATGTTCAGTGGTATCTC 0.520 22 653 --- --- --- --- S100A12 6283 broad.mit.edu 37 1 153346338 153346338 + Frame_Shift_Del DEL G G - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:153346338delG ENST00000368737.3 - 3 361 c.244delC c.(244-246)tgfs p.L82fs NM_005621.1 NP_005612.1 P80511 S10AC_HUMAN S100 calcium binding protein A12 82 EF-hand 2. defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process cytosol|extracellular region|insoluble fraction|nucleus calcium ion binding|RAGE receptor binding|zinc ion binding endometrium(1)|kidney(1)|skin(2) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) GCAGCCTTCAGCGCAATGGCT 0.448 8 464 --- --- --- --- TPM3 7170 broad.mit.edu 37 1 154163682 154163682 + Frame_Shift_Del DEL C C - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:154163682delC ENST00000368530.2 - 2 415 c.223delG c.(223-225)cafs p.A75fs TPM3_ENST00000271850.7_Frame_Shift_Del_p.A75fs NM_152263.2 NP_689476.2 P06753 TPM3_HUMAN tropomyosin 3 74 cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) TTCTTCTCTGCCAGTTCCAGC 0.448 T """NTRK1, ALK, ROS1""" """papillary thyroid, ALCL, NSCLC""" 55 731 --- --- --- --- SCAMP3 10067 broad.mit.edu 37 1 155230128 155230129 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:155230128_155230129insC ENST00000355379.3 - 3 580_581 c.302_303insG c.(301-303)gacfs p.D101fs SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Frame_Shift_Ins_p.D127fs NM_052837.2 NP_443069.1 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 127 post-Golgi vesicle-mediated transport|protein transport integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1) 19 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TACTAGCTGTGCCCCCCAGGGC 0.589 9 382 --- --- --- --- KIRREL 55243 broad.mit.edu 37 1 158058202 158058203 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:158058202_158058203insC ENST00000368172.1 + 4 408_409 c.396_397insC c.(394-399)aaccccfs p.NP132fs KIRREL_ENST00000360089.4_Frame_Shift_Ins_p.NP170fs|KIRREL_ENST00000368173.3_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000359209.6_Frame_Shift_Ins_p.NP334fs|KIRREL_ENST00000416935.2_Frame_Shift_Ins_p.NP234fs|KIRREL_ENST00000392272.2_Frame_Shift_Ins_p.NP231fs Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 334 Ig-like C2-type 2. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GGGTTGGGAATCCCCCCCTCAC 0.455 17 551 --- --- --- --- ADCY10 55811 broad.mit.edu 37 1 167865905 167865906 + Frame_Shift_Ins INS - - G rs35604923 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:167865905_167865906insG ENST00000367848.1 - 7 887_888 c.390_391insC c.(388-393)ccatttfs p.F131fs ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs|ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 223 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AAATTAAAATTGGGGGGTGGTT 0.332 11 465 --- --- --- --- FMO1 2326 broad.mit.edu 37 1 171227337 171227338 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:171227337_171227338insG ENST00000354841.4 + 1 242_243 c.111_112insG c.(109-114)ctggggfs p.LG37fs FMO1_ENST00000402921.2_Frame_Shift_Ins_p.LG37fs|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Frame_Shift_Ins_p.LG37fs Q01740 FMO1_HUMAN flavin containing monooxygenase 1 37 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCGATGACCTTGGGGGGCTGTG 0.530 9 556 --- --- --- --- ASTN1 460 broad.mit.edu 37 1 177133693 177133694 + In_Frame_Ins INS - - GTA TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:177133693_177133694insGTA ENST00000367654.2 - 1 132_133 c.119_120insTAC c.(118-120)aac>aTACac p.40_40N>IH ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_In_Frame_Ins_p.40_40N>IH|ASTN1_ENST00000424564.2_In_Frame_Ins_p.40_40N>IH|ASTN1_ENST00000361833.2_In_Frame_Ins_p.40_40N>IH O14525 ASTN1_HUMAN astrotactin 1 40 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CCGACACCGTGATGCTTTTGAG 0.678 7 61 --- --- --- --- LAD1 3898 broad.mit.edu 37 1 201352461 201352464 + Frame_Shift_Del DEL TATC TATC - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:201352461_201352464delTATC ENST00000391967.2 - 6 1530_1533 c.1229_1232delGATA c.(1228-1233)acfs p.RY410fs LAD1_ENST00000367313.3_Frame_Shift_Del_p.RY424fs|LAD1_ENST00000488842.1_5'UTR NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 410 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 GGCCGTGTGGTATCTCTCCAGCTT 0.608 10 405 --- --- --- --- NAV1 89796 broad.mit.edu 37 1 201779175 201779176 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:201779175_201779176insC ENST00000367296.4 + 23 4923_4924 c.4503_4504insC c.(4501-4506)gaccccfs p.DP1501fs IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Frame_Shift_Ins_p.DP1454fs|NAV1_ENST00000367300.3_Frame_Shift_Ins_p.DP1441fs|NAV1_ENST00000367297.4_Frame_Shift_Ins_p.DP1493fs|NAV1_ENST00000367295.1_Frame_Shift_Ins_p.DP1107fs|NAV1_ENST00000295624.6_Frame_Shift_Ins_p.DP1498fs NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1501 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 TGGATGCAGAGCCCCCCGAGAT 0.525 7 192 --- --- --- --- NFASC 23114 broad.mit.edu 37 1 204924032 204924033 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:204924032_204924033insC ENST00000367172.4 + 7 816_817 c.488_489insC c.(487-489)accfs p.T163fs NFASC_ENST00000404907.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000367169.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000339876.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000401399.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000360049.4_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000403080.1_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338586.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000338515.6_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000513543.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000367170.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000404076.1_Frame_Shift_Ins_p.T157fs|NFASC_ENST00000367171.4_Frame_Shift_Ins_p.T163fs|NFASC_ENST00000539706.1_Frame_Shift_Ins_p.T157fs O94856 NFASC_HUMAN neurofascin 163 Ig-like C2-type 2. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding p.P159fs*12(1)|p.P165fs*12(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CTCCAGTGCAACCCCCCGCCTG 0.559 10 605 --- --- --- --- MFSD4 148808 broad.mit.edu 37 1 205566933 205566934 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:205566933_205566934insG ENST00000367147.4 + 8 1416_1417 c.1323_1324insG c.(1321-1326)acgggcfs p.TG441fs MFSD4_ENST00000536357.1_Frame_Shift_Ins_p.TG354fs|MFSD4_ENST00000539267.1_Intron NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 441 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) TGCTGGTGACAGGGGCAGGAGT 0.525 10 455 --- --- --- --- TATDN3 128387 broad.mit.edu 37 1 212988385 212988386 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:212988385_212988386insC ENST00000366974.4 + 10 806_807 c.712_713insC c.(712-714)agcfs p.S238fs TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000532324.1_Frame_Shift_Ins_p.S245fs|TATDN3_ENST00000366973.4_Frame_Shift_Ins_p.S237fs|TATDN3_ENST00000531963.1_Intron|TATDN3_ENST00000526641.1_Frame_Shift_Ins_p.S217fs|TATDN3_ENST00000526997.1_3'UTR NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1 NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1 Q17R31 TATD3_HUMAN TatD DNase domain containing 3 238 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding endometrium(1)|large_intestine(2)|lung(6) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104) CATTTCTATTTCAGCAGAATAT 0.431 24 213 --- --- --- --- PROX1 5629 broad.mit.edu 37 1 214170285 214170286 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:214170285_214170286insC ENST00000366958.4 + 2 1015_1016 c.407_408insC c.(406-408)accfs p.T136fs PROX1_ENST00000498508.2_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000435016.1_Frame_Shift_Ins_p.T136fs|PROX1_ENST00000261454.4_Frame_Shift_Ins_p.T136fs NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 136 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) TCAAGAGACAGCCCCCCAGAGT 0.530 8 403 --- --- --- --- TRIM17 51127 broad.mit.edu 37 1 228596934 228596935 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:228596934_228596935insG ENST00000366697.2 - 5 1777_1778 c.821_822insC c.(820-822)cacfs p.H274fs TRIM17_ENST00000366698.2_Frame_Shift_Ins_p.H274fs|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_Frame_Shift_Ins_p.H274fs|TRIM17_ENST00000295033.3_Frame_Shift_Ins_p.H274fs Q9Y577 TRI17_HUMAN tripartite motif containing 17 274 protein autoubiquitination intracellular protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1) 10 Prostate(94;0.0724) TGGGTCTGGTTGGGGGGGCAAC 0.579 35 568 --- --- --- --- LYST 1130 broad.mit.edu 37 1 235969934 235969934 + Frame_Shift_Del DEL G G - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr1:235969934delG ENST00000389794.3 - 6 2676 c.2502delC c.(2500-2502)gcfs p.A834fs LYST_ENST00000389793.2_Frame_Shift_Del_p.A834fs|LYST_ENST00000536965.1_Frame_Shift_Del_p.A834fs Q99698 LYST_HUMAN lysosomal trafficking regulator 834 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CTGGAACTGAGGCATCTTTCT 0.378 22 447 --- --- --- --- CAD 790 broad.mit.edu 37 2 27456981 27456982 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:27456981_27456982insC ENST00000264705.4 + 22 3667_3668 c.3505_3506insC c.(3505-3507)cccfs p.P1169fs CAD_ENST00000403525.1_Frame_Shift_Ins_p.P1106fs NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1169 ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GACGCTGGTGACCCCCCCACAA 0.574 7 150 --- --- --- --- EPAS1 2034 broad.mit.edu 37 2 46611714 46611714 + Frame_Shift_Del DEL A A - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:46611714delA ENST00000263734.3 + 16 3038 c.2528delA c.(2527-2529)gcfs p.D843fs NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 843 CTAD. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) ACCAGATATGACTGTGAGGTG 0.602 63 213 --- --- --- --- COMMD1 150684 broad.mit.edu 37 2 62373417 62373418 + RNA INS - - A rs76799739 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:62373417_62373418insA ENST00000425966.2 - 0 251 AC018462.2_ENST00000421323.1_RNA ctctacttattaaaaaaaaAAA 0.347 2 4 --- --- --- --- ANTXR1 84168 broad.mit.edu 37 2 69409763 69409764 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:69409763_69409764insC ENST00000303714.4 + 16 1646_1647 c.1324_1325insC c.(1324-1326)cccfs p.P442fs NM_032208.2 NP_115584.1 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 442 actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 TCGGCCTTCTTCCCCCCGGAAG 0.421 Familial Infantile Hemangioma 10 472 --- --- --- --- PCGF1 84759 broad.mit.edu 37 2 74732899 74732900 + Splice_Site INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:74732899_74732900insG ENST00000233630.6 - 6 1442 c.e6-2 PCGF1_ENST00000480844.2_Splice_Site NM_032673.2 NP_116062.2 Q9BSM1 PCGF1_HUMAN polycomb group ring finger 1 histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex protein C-terminus binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2) 12 TTGCCAGAACTGGGGGGAAATA 0.530 7 743 --- --- --- --- USP39 10713 broad.mit.edu 37 2 85863227 85863228 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:85863227_85863228insG ENST00000323701.6 + 7 1011_1012 c.1001_1002insG c.(1000-1002)cggfs p.R334fs USP39_ENST00000409470.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409766.3_Frame_Shift_Ins_p.R334fs|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Frame_Shift_Ins_p.R231fs NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 334 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 CACTCAGCTCTGGGGGGCACAA 0.416 9 1109 --- --- --- --- LONRF2 164832 broad.mit.edu 37 2 100903470 100903472 + In_Frame_Del DEL TGT TGT - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:100903470_100903472delTGT ENST00000393437.3 - 11 2613_2615 c.1974_1976delACA c.(1972-1977)cag>ca p.QQ658del LONRF2_ENST00000409647.1_In_Frame_Del_p.QQ415del NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 658 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 GGAAACAGACTGTTGATGCACAG 0.488 21 421 --- --- --- --- IL1R2 7850 broad.mit.edu 37 2 102638681 102638682 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:102638681_102638682insC ENST00000332549.3 + 6 950_951 c.721_722insC c.(721-723)cccfs p.P241fs IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II 241 Ig-like C2-type 3. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) TGTGATCATTTCCCCCCTCAAG 0.490 7 525 --- --- --- --- LOC101928553 101928553 broad.mit.edu 37 2 149629672 149629673 + RNA INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:149629672_149629673insC ENST00000601658.1 - 0 676 CTCTGGCCCTGCCCCCCCCCAA 0.441 2 4 --- --- --- --- KCNH7 90134 broad.mit.edu 37 2 163256860 163256861 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:163256860_163256861insC ENST00000332142.5 - 10 2344_2345 c.2245_2246insG c.(2245-2247)aagfs p.K749fs NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 749 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.A749fs*3(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) ACCTTTACTTGCCCCCCGAAAG 0.485 7 490 --- --- --- --- FIGN 55137 broad.mit.edu 37 2 164467542 164467543 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:164467542_164467543insC ENST00000333129.3 - 3 1113_1114 c.799_800insG c.(799-801)accfs p.T267fs FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 267 Pro-rich. nuclear matrix ATP binding|nucleoside-triphosphatase activity p.A267fs*100(2) breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 CGGAGGCGGTGCCCCCCCAGGG 0.609 9 131 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168099957 168099958 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:168099957_168099958insG ENST00000409195.1 + 9 2144_2145 c.2055_2056insG c.(2053-2058)acggggfs p.TG685fs XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 510 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGGACATAACTGGGGGGGATGT 0.421 16 226 --- --- --- --- GPR155 151556 broad.mit.edu 37 2 175333792 175333793 + Frame_Shift_Del DEL TT TT - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:175333792_175333793delTT ENST00000392552.2 - 5 1267_1268 c.1029_1030delAA c.(1027-1032)atccfs p.IT343fs GPR155_ENST00000392551.2_Frame_Shift_Del_p.IT343fs|GPR155_ENST00000295500.4_Frame_Shift_Del_p.IT343fs NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 343 intracellular signal transduction|transmembrane transport integral to membrane breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 ATCCCTGAGGTTATCTGCAAAA 0.376 70 215 --- --- --- --- NEUROD1 4760 broad.mit.edu 37 2 182542971 182542972 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:182542971_182542972insG ENST00000295108.3 - 2 1073_1074 c.616_617insC c.(616-618)cctfs p.P206fs CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 206 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) CGTCGGCAGGTGGGGGGGCATG 0.619 42 1060 --- --- --- --- ITGAV 3685 broad.mit.edu 37 2 187521084 187521085 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:187521084_187521085insG ENST00000261023.3 + 17 1949_1950 c.1675_1676insG c.(1675-1677)gggfs p.G559fs ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 559 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GACTATTTCAAGGGGGGGACTG 0.431 7 250 --- --- --- --- SCLY 51540 broad.mit.edu 37 2 238976761 238976762 + Frame_Shift_Ins INS - - G rs76625747 byFrequency TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:238976761_238976762insG ENST00000254663.6 + 3 424_425 c.282_283insG c.(280-285)atggggfs p.MG94fs SCLY_ENST00000429612.2_Frame_Shift_Ins_p.MG86fs|SCLY_ENST00000555827.1_Frame_Shift_Ins_p.MG86fs|SCLY_ENST00000480859.1_3'UTR|SCLY_ENST00000409736.2_Frame_Shift_Ins_p.MG86fs|SCLY_ENST00000373332.3_5'UTR|SCLY_ENST00000422984.2_Intron|UBE2F-SCLY_ENST00000449191.1_3'UTR NM_016510.5 NP_057594.4 Q96I15 SCLY_HUMAN selenocysteine lyase 86 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 22 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) CGAAGATGATAGGGGGGAAACC 0.416 7 148 --- --- --- --- NDUFA10 4705 broad.mit.edu 37 2 240954220 240954221 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:240954220_240954221insG ENST00000252711.2 - 5 704_705 c.604_605insC c.(604-606)cctfs p.P202fs NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs NM_004544.3 NP_004535.1 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 202 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) AATCACCAGGTGGGGGGGCAGG 0.535 51 684 --- --- --- --- THAP4 51078 broad.mit.edu 37 2 242573106 242573106 + Frame_Shift_Del DEL T T - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr2:242573106delT ENST00000407315.1 - 2 897 c.466delA c.(466-468)ggfs p.R156fs NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 156 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) TGGGCCGCCCTGGGTGTGGCT 0.642 12 47 --- --- --- --- TATDN2 9797 broad.mit.edu 37 3 10312538 10312539 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr3:10312538_10312539insG ENST00000287652.4 + 4 2723_2724 c.1672_1673insG c.(1672-1674)gggfs p.G558fs TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.G558fs|RP11-438J1.1_ENST00000450534.1_3'UTR NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 558 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 GGATCTGGTCTGGGGGGCCTTT 0.505 8 801 --- --- --- --- SLC6A1 6529 broad.mit.edu 37 3 11059620 11059621 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr3:11059620_11059621insG ENST00000287766.4 + 4 751_752 c.330_331insG c.(328-333)atggggfs p.MG110fs SLC6A1_ENST00000536032.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 110 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) ACACCTCCATCGGGGGGCTAGG 0.599 7 177 --- --- --- --- TCAIM 285343 broad.mit.edu 37 3 44434435 44434436 + Frame_Shift_Ins INS - - T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr3:44434435_44434436insT ENST00000342649.4 + 6 1088_1089 c.661_662insT c.(661-663)actfs p.T221fs TCAIM_ENST00000417237.1_Frame_Shift_Ins_p.T221fs NM_173826.3 NP_776187.2 T cell activation inhibitor, mitochondrial TTTAAAAGATGAACTGTCTCAT 0.327 31 202 --- --- --- --- RBM6 10180 broad.mit.edu 37 3 50005144 50005145 + Frame_Shift_Ins INS - - G rs141234052 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr3:50005144_50005145insG ENST00000266022.4 + 3 545_546 c.286_287insG c.(286-288)gggfs p.G96fs RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000422955.1_Intron NM_005777.2 NP_005768.1 P78332 RBM6_HUMAN RNA binding motif protein 6 96 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) ACATGATTTCAGGGGGGGAGAT 0.495 13 174 --- --- --- --- VPRBP 9730 broad.mit.edu 37 3 51457614 51457615 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr3:51457614_51457615insG ENST00000335891.5 - 7 1471_1472 c.1462_1463insC c.(1462-1464)gggfs p.G488fs Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 937 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) TAGCGGACCCTGGGGGGGCCGT 0.589 7 285 --- --- --- --- PBRM1 55193 broad.mit.edu 37 3 52696164 52696164 + Frame_Shift_Del DEL G G - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr3:52696164delG ENST00000356770.4 - 4 515 c.513delC c.(511-513)ggfs p.G171fs PBRM1_ENST00000337303.4_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.G171fs Q86U86 PB1_HUMAN polybromo 1 171 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CAGTCACTGTGCCCTGATTGT 0.488 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 159 800 --- --- --- --- KCTD6 200845 broad.mit.edu 37 3 58486771 58486772 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr3:58486771_58486772insG ENST00000355076.6 + 2 1109_1110 c.126_127insG c.(124-129)ttggggfs p.LG42fs KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs NM_153331.3 NP_699162.3 Q8NC69 KCTD6_HUMAN potassium channel tetramerization domain containing 6 42 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) GAGCTATGTTTGGGGGGGACTT 0.465 8 373 --- --- --- --- ALDH1L1 10840 broad.mit.edu 37 3 125825989 125825992 + Frame_Shift_Del DEL AGCA AGCA - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr3:125825989_125825992delAGCA ENST00000393434.2 - 21 2794_2797 c.2445_2448delTGCT c.(2443-2448)ttfs p.FA815fs ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Frame_Shift_Del_p.FA815fs|ALDH1L1_ENST00000452905.2_Frame_Shift_Del_p.FA714fs|ALDH1L1_ENST00000273450.3_Frame_Shift_Del_p.FA825fs|ALDH1L1-AS1_ENST00000512384.1_RNA NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 815 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CCTACCCATCAGCAAACCGAGAGA 0.534 15 228 --- --- --- --- LETM1 3954 broad.mit.edu 37 4 1843235 1843236 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr4:1843235_1843236insG ENST00000302787.2 - 3 728_729 c.432_433insC c.(430-435)cccagafs p.R145fs NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 145 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) ACCACCTCTGCGGGGGGGCTGT 0.604 15 245 --- --- --- --- UNC5C 8633 broad.mit.edu 37 4 96140293 96140294 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr4:96140293_96140294insG ENST00000453304.1 - 9 1819_1820 c.1471_1472insC c.(1471-1473)agafs p.R491fs UNC5C_ENST00000506749.1_Frame_Shift_Ins_p.R510fs NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 491 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GAGGTCATCTTGGGGGGTGACA 0.505 15 320 --- --- --- --- NDNF 79625 broad.mit.edu 37 4 121957791 121957792 + Frame_Shift_Ins INS - - T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr4:121957791_121957792insT ENST00000379692.4 - 4 1860_1861 c.1334_1335insA c.(1333-1335)ctcfs p.L445fs NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 445 Fibronectin type-III 2. breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 CAGGAAGAGAGGGAAATGACTG 0.446 16 390 --- --- --- --- ANKRD50 57182 broad.mit.edu 37 4 125590618 125590619 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr4:125590618_125590619insC ENST00000504087.1 - 4 4850_4851 c.3813_3814insG c.(3811-3816)ggaatcfs p.I1272fs ANKRD50_ENST00000515641.1_Frame_Shift_Ins_p.I1093fs NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1272 Ser-rich. NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 TTTTCTGATTTCCCCCCTTTAC 0.391 9 514 --- --- --- --- DCLK2 166614 broad.mit.edu 37 4 151177263 151177264 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr4:151177263_151177264insA ENST00000296550.7 + 16 2919_2920 c.2165_2166insA c.(2164-2166)cccfs p.P722fs DCLK2_ENST00000506325.1_Frame_Shift_Ins_p.P721fs|DCLK2_ENST00000302176.8_Frame_Shift_Ins_p.P739fs NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 722 Pro-rich. 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) TCTCCAGTTCCTCCCTCAGTGG 0.649 11 70 --- --- --- --- FGG 2266 broad.mit.edu 37 4 155526058 155526059 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr4:155526058_155526059insC ENST00000404648.3 - 9 1528_1529 c.1289_1290insG c.(1288-1290)ggcfs p.G430fs FGG_ENST00000405164.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000407946.1_Frame_Shift_Ins_p.G438fs|FGG_ENST00000336098.3_Frame_Shift_Ins_p.G430fs NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 430 Platelet aggregation and Staphylococcus clumping. 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 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CCTGTTTGGCTCCCCCCAGGTG 0.450 9 687 --- --- --- --- DDX60 55601 broad.mit.edu 37 4 169201620 169201621 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr4:169201620_169201621insA ENST00000393743.3 - 14 2134_2135 c.1843_1844insT c.(1843-1845)tttfs p.F615fs NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 615 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AGAGTGTAAATTTTCTTTCAAT 0.366 8 198 --- --- --- --- GPM6A 2823 broad.mit.edu 37 4 176622884 176622885 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr4:176622884_176622885insC ENST00000280187.7 - 3 116_117 c.71_72insG c.(70-72)gatfs p.D24fs GPM6A_ENST00000506894.1_Frame_Shift_Ins_p.D13fs|GPM6A_ENST00000393658.2_Frame_Shift_Ins_p.D24fs|GPM6A_ENST00000515090.1_Frame_Shift_Ins_p.D17fs NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 24 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) CATAGGGAATGCCCCCCAGGCA 0.431 11 275 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32090267 32090268 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:32090267_32090268insC ENST00000438447.1 + 20 7101_7102 c.6713_6714insC c.(6712-6714)cccfs p.P2238fs PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.P2238fs O15018 PDZD2_HUMAN PDZ domain containing 2 2238 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 CGGGAGGGTCACCCCCCACACA 0.639 12 634 --- --- --- --- SLC1A3 6507 broad.mit.edu 37 5 36679798 36679799 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:36679798_36679799insG ENST00000265113.4 + 7 1406_1407 c.930_931insG c.(928-933)atggggfs p.MG310fs CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Frame_Shift_Ins_p.MG310fs NM_004172.4 NP_004163.3 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 3 310 D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1) 41 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) TGGGTGTGATTGGGGGGCAGCT 0.520 21 913 --- --- --- --- C6 729 broad.mit.edu 37 5 41181559 41181560 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:41181559_41181560insC ENST00000263413.3 - 7 1092_1093 c.828_829insG c.(826-831)gggctcfs p.L277fs C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Frame_Shift_Ins_p.L277fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 277 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTGAAAGAGCTCCCCCCCTGAC 0.376 8 184 --- --- --- --- MAP1B 4131 broad.mit.edu 37 5 71490419 71490420 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:71490419_71490420insA ENST00000296755.7 + 5 1535_1536 c.1237_1238insA c.(1237-1239)aaafs p.K413fs NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 413 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CATTCTTTTCCAAAAAATGGGA 0.401 9 769 --- --- --- --- MAP1B 4131 broad.mit.edu 37 5 71495076 71495077 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:71495076_71495077insC ENST00000296755.7 + 5 6192_6193 c.5894_5895insC c.(5893-5895)accfs p.T1965fs NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1965 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AAGACCACCAGCCCCCCCGAAG 0.485 19 613 --- --- --- --- ERAP1 51752 broad.mit.edu 37 5 96136598 96136598 + Frame_Shift_Del DEL C C - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:96136598delC ENST00000296754.3 - 3 887 c.630delG c.(628-630)gafs p.E210fs ERAP1_ENST00000443439.2_Frame_Shift_Del_p.E210fs NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 210 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) GGTGCCTTGGCTCTCTTCTAA 0.438 18 320 --- --- --- --- HSPA4 3308 broad.mit.edu 37 5 132432907 132432907 + Frame_Shift_Del DEL G G - rs143003242 by1000genomes TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:132432907delG ENST00000304858.2 + 15 2147 c.1858delG c.(1858-1860)cafs p.A620fs NM_002154.3 NP_002145.3 P34932 HSP74_HUMAN heat shock 70kDa protein 4 620 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGCTAAGAACGCAGTGGAGGA 0.373 9 381 --- --- --- --- TCF7 6932 broad.mit.edu 37 5 133473764 133473765 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:133473764_133473765insC ENST00000395029.1 + 4 651_652 c.456_457insC c.(454-459)caccccfs p.HP152fs TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, HMG-box) 152 cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(7)|lung(2)|skin(1) 12 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGCCAATCAGCCCCCCCACGG 0.574 10 166 --- --- --- --- PCDHGC3 5098 broad.mit.edu 37 5 140857727 140857728 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:140857727_140857728insC ENST00000308177.3 + 1 2148_2149 c.2044_2045insC c.(2044-2046)cccfs p.P682fs PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTGGCTCTGCCCCCCGGGAG 0.515 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 282 --- --- --- --- FCHSD1 89848 broad.mit.edu 37 5 141024642 141024643 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:141024642_141024643insG ENST00000435817.2 - 14 1434_1435 c.1384_1385insC c.(1384-1386)agcfs p.S462fs FCHSD1_ENST00000522783.1_Frame_Shift_Ins_p.S388fs|FCHSD1_ENST00000522126.1_Frame_Shift_Ins_p.S386fs|FCHSD1_ENST00000523856.1_5'UTR NM_033449.2 NP_258260.1 Q86WN1 FCSD1_HUMAN FCH and double SH3 domains 1 462 FCHSD1/BRAF(2) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCCAGGGCTTGGGGGGCAGGC 0.589 7 134 --- --- --- --- ARAP3 64411 broad.mit.edu 37 5 141049341 141049342 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:141049341_141049342insC ENST00000239440.4 - 16 2351_2352 c.2286_2287insG c.(2284-2289)ggggatfs p.D763fs ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 763 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TGCTGGATCCTCCCCCCAGCGA 0.579 9 495 --- --- --- --- PCDH12 51294 broad.mit.edu 37 5 141336747 141336748 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:141336747_141336748insG ENST00000231484.3 - 1 1879_1880 c.669_670insC c.(667-672)ccagtcfs p.V224fs NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 224 Cadherin 2. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACCTGACTTGGGGGGGTTCC 0.480 9 261 --- --- --- --- GLRA1 2741 broad.mit.edu 37 5 151202402 151202403 + Frame_Shift_Ins INS - - G rs62636581 byFrequency TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:151202402_151202403insG ENST00000274576.4 - 9 1473_1474 c.1181_1182insC c.(1180-1182)cccfs p.P394fs GLRA1_ENST00000545569.1_Frame_Shift_Ins_p.P311fs|GLRA1_ENST00000455880.2_Frame_Shift_Ins_p.P402fs NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 402 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATGGTGCAGGAGGGGGGTTGGT 0.550 9 1838 --- --- --- --- GALNT10 55568 broad.mit.edu 37 5 153789314 153789315 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:153789314_153789315insG ENST00000297107.6 + 9 1515_1516 c.1378_1379insG c.(1378-1380)gggfs p.G460fs GALNT10_ENST00000377657.3_Frame_Shift_Ins_p.G133fs|SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Frame_Shift_Ins_p.G398fs|SAP30L-AS1_ENST00000519727.1_RNA NM_198321.3 NP_938080.1 Q86SR1 GLT10_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) 460 Ricin B-type lectin. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GGCTGCAGCTTGGGGGGAGGTG 0.535 7 294 --- --- --- --- LARP1 23367 broad.mit.edu 37 5 154181821 154181822 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr5:154181821_154181822insG ENST00000336314.4 + 11 1764_1765 c.1740_1741insG c.(1738-1743)ccggggfs p.PG580fs NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 657 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCCGGCACCCAGGGGGGGACCG 0.550 10 428 --- --- --- --- EXOC2 55770 broad.mit.edu 37 6 637793 637794 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:637793_637794insG ENST00000230449.4 - 2 160_161 c.25_26insC c.(25-27)tgtfs p.C9fs EXOC2_ENST00000448181.3_Intron NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 9 IPT/TIG. exocytosis|protein transport p.Q6fs*28(1) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GCCGGTCACAAGGGGGGGTTGT 0.485 26 878 --- --- --- --- GCNT2 2651 broad.mit.edu 37 6 10557409 10557410 + Frame_Shift_Ins INS - - C rs55808116 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:10557409_10557410insC ENST00000316170.3 + 1 1170_1171 c.753_754insC c.(751-756)ccccccfs p.PP251fs GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron NM_001491.2 NP_001482.1 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 253 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TGAAACCGCCTCCCCCCCATAA 0.485 30 671 --- --- --- --- PHACTR1 221692 broad.mit.edu 37 6 13206134 13206135 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:13206134_13206135insG ENST00000379350.1 + 7 881_882 c.752_753insG c.(751-753)gggfs p.G251fs PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 251 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGTATGCCCGTGGGGGGGCCAG 0.599 11 208 --- --- --- --- KIF13A 63971 broad.mit.edu 37 6 17837307 17837308 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:17837307_17837308insC ENST00000378814.5 - 11 955_956 c.956_957insG c.(955-957)gaafs p.E319fs KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 319 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTTGGCTGTTGCCCCCCAAGTT 0.450 13 365 --- --- --- --- DCDC2 51473 broad.mit.edu 37 6 24205282 24205283 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:24205282_24205283insC ENST00000378454.3 - 8 1271_1272 c.970_971insG c.(970-972)agcfs p.S324fs DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 324 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) GACTTCTGCTGCCCCCCGTGTT 0.411 17 938 --- --- --- --- FAM65B 9750 broad.mit.edu 37 6 24873930 24873931 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:24873930_24873931insG ENST00000259698.4 - 3 373_374 c.198_199insC c.(196-201)ccaagafs p.R67fs FAM65B_ENST00000538035.1_Frame_Shift_Ins_p.R96fs|FAM65B_ENST00000540914.1_Frame_Shift_Ins_p.R67fs|FAM65B_ENST00000378023.4_Frame_Shift_Ins_p.R67fs|FAM65B_ENST00000510784.2_Frame_Shift_Ins_p.R101fs NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B 67 Involved in cell filopodia formation. cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 TGAGGCTCTTTGGGGGGATTGT 0.426 9 902 --- --- --- --- HLA-G 3135 broad.mit.edu 37 6 29797195 29797196 + Splice_Site INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:29797195_29797196insC ENST00000428701.1 + 5 798_799 c.619_splice c.e5-1 p.A207_splice HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376818.3_Splice_Site_p.T115_splice|HLA-G_ENST00000376828.2_Splice_Site_p.A212_splice|HLA-G_ENST00000360323.6_Splice_Site_p.A207_splice NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 207 Alpha-3. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 TTCCTTTCAGACCCCCCCAAGA 0.540 7 231 --- --- --- --- BAG6 7917 broad.mit.edu 37 6 31608920 31608921 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:31608920_31608921insC ENST00000404765.2 - 20 3036_3037 c.2747_2748insG c.(2746-2748)gcafs p.A916fs BAG6_ENST00000362049.6_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000211379.5_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000375976.4_Frame_Shift_Ins_p.A880fs|BAG6_ENST00000439687.2_Frame_Shift_Ins_p.A754fs|BAG6_ENST00000375964.6_Frame_Shift_Ins_p.A886fs P46379 BAG6_HUMAN BCL2-associated athanogene 6 886 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 CCATCTGCTGTCCCCCCAAGCA 0.515 10 486 --- --- --- --- C6orf25 80739 broad.mit.edu 37 6 31692528 31692529 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:31692528_31692529insC ENST00000375809.3 + 5 558_559 c.547_548insC c.(547-549)cccfs p.P183fs C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 0 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 TTCAGCTCTGTCCCCCCCACAT 0.579 7 293 --- --- --- --- TNXB 7148 broad.mit.edu 37 6 32029262 32029263 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:32029262_32029263insC ENST00000375244.3 - 21 7604_7605 c.7403_7404insG c.(7402-7404)gctfs p.A2468fs TNXB_ENST00000375247.2_Frame_Shift_Ins_p.A2468fs P22105 TENX_HUMAN tenascin XB 2528 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CAGGCTCCAGGCCCCCCACGGT 0.683 9 483 --- --- --- --- FKBPL 63943 broad.mit.edu 37 6 32097085 32097086 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:32097085_32097086insC ENST00000375156.3 - 2 742_743 c.472_473insG c.(472-474)gctfs p.A158fs NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 158 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity CTCTATGAGCTCCCCCCAAGTT 0.589 15 493 --- --- --- --- RING1 6015 broad.mit.edu 37 6 33178989 33178990 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:33178989_33178990insG ENST00000374656.4 + 5 718_719 c.510_511insG c.(508-513)agggggfs p.RG170fs RING1_ENST00000478431.1_3'UTR NM_002931.3 NP_002922.2 Q06587 RING1_HUMAN ring finger protein 1 170 Necessary for transcriptional repression (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4) 17 CAACGATGAGTGGGGGGGAAGG 0.619 25 759 --- --- --- --- RING1 6015 broad.mit.edu 37 6 33179568 33179568 + Frame_Shift_Del DEL T T - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:33179568delT ENST00000374656.4 + 6 1116 c.908delT c.(907-909)atfs p.I303fs RING1_ENST00000478431.1_3'UTR NM_002931.3 NP_002922.2 Q06587 RING1_HUMAN ring finger protein 1 303 Necessary for interaction with CBX2 (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4) 17 GCCCTGCGCATTGCCCTCGAG 0.642 49 290 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33405504 33405505 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:33405504_33405505insC ENST00000418600.2 + 8 923_924 c.822_823insC c.(820-825)ctccccfs p.LP274fs SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Frame_Shift_Ins_p.LP274fs|SYNGAP1_ENST00000428982.2_Frame_Shift_Ins_p.LP215fs NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 274 C2. 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 CCCGGGAGCTGCCCCCCAAGAA 0.599 11 424 --- --- --- --- TCP11 6954 broad.mit.edu 37 6 35108559 35108560 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:35108559_35108560insG ENST00000311875.5 - 2 544_545 c.127_128insC c.(127-129)ggafs p.G43fs TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000444780.2_Frame_Shift_Ins_p.G43fs|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000512012.1_Frame_Shift_Ins_p.G30fs|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000373979.2_Intron|TCP11_ENST00000373974.4_Intron|TCP11_ENST00000412155.2_Intron Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 30 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 CTTGTCTTCCTGGGGGGGTCCT 0.639 7 167 --- --- --- --- FANCE 2178 broad.mit.edu 37 6 35425714 35425715 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:35425714_35425715insC ENST00000229769.2 + 4 1107_1108 c.922_923insC c.(922-924)cccfs p.P308fs NM_021922.2 NP_068741.1 Q9HB96 FANCE_HUMAN Fanconi anemia, complementation group E 308 Interaction with FANCC. DNA repair nucleoplasm protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2) 13 ATTGGAGGATGCCCCCCCAGTT 0.540 """N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 183 --- --- --- --- MAPK14 1432 broad.mit.edu 37 6 36068005 36068006 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:36068005_36068006insC ENST00000229795.3 + 9 1170_1171 c.723_724insC c.(721-726)acccccfs p.TP241fs MAPK14_ENST00000468133.1_Intron|MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000229794.4_Intron NM_001315.2 NP_001306.1 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 241 Protein kinase. activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 TGACAGGAACACCCCCCGCTTA 0.426 8 256 --- --- --- --- FOXP4 116113 broad.mit.edu 37 6 41564917 41564921 + Frame_Shift_Del DEL CCCCA CCCCA - rs6911720 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:41564917_41564921delCCCCA ENST00000373060.1 + 15 2120_2124 c.1662_1666delCCCCA c.(1660-1668)agccfs p.SPT554fs FOXP4_ENST00000307972.4_Frame_Shift_Del_p.SPT554fs|FOXP4_ENST00000373057.3_Frame_Shift_Del_p.SPT552fs|FOXP4_ENST00000409208.1_Frame_Shift_Del_p.SPT542fs|FOXP4_ENST00000373063.3_Frame_Shift_Del_p.SPT541fs NM_001012426.1|NM_001012427.1 NP_001012426.1|NP_001012427.1 Q8IVH2 FOXP4_HUMAN forkhead box P4 554 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) CCTCCAGGAGCCCCACCCTGGTGAA 0.546 10 178 --- --- --- --- REV3L 5980 broad.mit.edu 37 6 111693903 111693904 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:111693903_111693904insG ENST00000435970.1 - 15 6236_6237 c.5420_5421insC c.(5419-5421)cagfs p.Q1807fs REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1885 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTTCCCTACTTGGGGGGGACAT 0.431 DNA polymerases (catalytic subunits) 18 309 --- --- --- --- KIAA0408 9729 broad.mit.edu 37 6 127767595 127767596 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:127767595_127767596insC ENST00000483725.3 - 5 2204_2205 c.1868_1869insG c.(1867-1869)gcafs p.A623fs SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 623 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TCACTTCCTGTCCCCCCCACAC 0.401 10 477 --- --- --- --- HIVEP2 3097 broad.mit.edu 37 6 143074371 143074371 + Frame_Shift_Del DEL G G - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:143074371delG ENST00000367603.2 - 10 7956 c.7214delC c.(7213-7215)gtfs p.A2405fs HIVEP2_ENST00000012134.2_Frame_Shift_Del_p.A2405fs|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367604.1_Frame_Shift_Del_p.A2405fs NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 2405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CGTGGAGTGAGCTAATGGAGT 0.468 8 598 --- --- --- --- PHACTR2 9749 broad.mit.edu 37 6 144086745 144086746 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:144086745_144086746insC ENST00000427704.2 + 6 1139_1140 c.1009_1010insC c.(1009-1011)cccfs p.P337fs PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.P257fs|PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.P325fs|PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.P268fs|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.P348fs NM_001100166.1|NM_014721.2 NP_001093636.1|NP_055536.2 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 337 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TTCTCCTCTGGCCCCCCCTCTC 0.584 8 110 --- --- --- --- OPRM1 4988 broad.mit.edu 37 6 154412190 154412191 + Frame_Shift_Ins INS - - CT TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:154412190_154412191insCT ENST00000414028.2 + 3 797_798 c.747_748insCT c.(745-750)atttacfs p.Y250fs OPRM1_ENST00000229768.5_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000337049.4_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000518759.1_Frame_Shift_Ins_p.Y169fs|OPRM1_ENST00000435918.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000360422.4_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000434900.2_Frame_Shift_Ins_p.Y343fs|OPRM1_ENST00000524163.1_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000522555.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000522236.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000419506.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000330432.7_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000428397.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000520708.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000452687.2_Frame_Shift_Ins_p.Y250fs NM_001145284.2 NP_001138756.1 P35372 OPRM_HUMAN opioid receptor, mu 1 250 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) CAGTGCTCATCATTACCGTGTG 0.465 15 185 --- --- --- --- TCP1 6950 broad.mit.edu 37 6 160200765 160200766 + Frame_Shift_Del DEL TG TG - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr6:160200765_160200766delTG ENST00000321394.7 - 11 1627_1628 c.1347_1348delCA c.(1345-1350)ccatfs p.PN449fs TCP1_ENST00000420894.2_Intron|TCP1_ENST00000392168.2_Frame_Shift_Del_p.PN294fs|TCP1_ENST00000544255.1_Frame_Shift_Del_p.PN225fs NM_030752.2 NP_110379.2 P17987 TCPA_HUMAN t-complex 1 449 'de novo' posttranslational protein folding|tubulin complex assembly cell junction|Golgi apparatus ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(2) 10 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) GCTAGTGTATTGGGAATAACAA 0.416 7 245 --- --- --- --- EIF3B 8662 broad.mit.edu 37 7 2404085 2404086 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:2404085_2404086insG ENST00000360876.4 + 6 1134_1135 c.1078_1079insG c.(1078-1080)gggfs p.G360fs EIF3B_ENST00000397011.2_Frame_Shift_Ins_p.G360fs NM_001037283.1 NP_001032360.1 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, subunit B 360 Sufficient for interaction with EIF3E. regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CATTGCTCTATGGGGGGGAGAG 0.475 24 419 --- --- --- --- GLCCI1 113263 broad.mit.edu 37 7 8125865 8125866 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:8125865_8125866insA ENST00000223145.5 + 8 1898_1899 c.1341_1342insA c.(1339-1344)gaaaaafs p.EK447fs NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 447 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) CATGTCCTGACAAAAACAAGGT 0.411 9 1330 --- --- --- --- ETV1 2115 broad.mit.edu 37 7 13975472 13975473 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:13975472_13975473insG ENST00000343495.5 - 7 1098_1099 c.360_361insC c.(358-363)cccaccfs p.T121fs ETV1_ENST00000403685.1_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405218.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000403527.1_Frame_Shift_Ins_p.T99fs|ETV1_ENST00000430479.1_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000420159.2_Frame_Shift_Ins_p.T81fs|ETV1_ENST00000405192.2_Frame_Shift_Ins_p.T139fs|ETV1_ENST00000242066.5_Frame_Shift_Ins_p.T121fs|ETV1_ENST00000405358.4_Frame_Shift_Ins_p.T153fs|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000476720.2_5'UTR P50549 ETV1_HUMAN ets variant 1 139 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 CTGGATGGTGTGGGGGGGTTGG 0.530 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 11 335 --- --- --- --- FKBP9 11328 broad.mit.edu 37 7 33014803 33014804 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:33014803_33014804insC ENST00000242209.4 + 3 546_547 c.377_378insC c.(376-378)accfs p.T126fs AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs|FKBP9_ENST00000538443.1_5'UTR NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 126 PPIase FKBP-type 1. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) GCTGGTGTGATCCCCCCCAATT 0.446 11 403 --- --- --- --- TRGJP 6970 broad.mit.edu 37 7 38313226 38313227 + RNA INS - - T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:38313226_38313227insT ENST00000390338.2 - 0 21_22 AAATACCTTGATTTTTTTGCCC 0.391 7 471 --- --- --- --- LINC00957 255031 broad.mit.edu 37 7 44080548 44080549 + RNA INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:44080548_44080549insC ENST00000441052.1 + 0 1233_1234 TGCGCCCCGCACCCCCCCGGAG 0.614 7 102 --- --- --- --- ABCB4 5244 broad.mit.edu 37 7 87081037 87081038 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:87081037_87081038insA ENST00000265723.4 - 7 720_721 c.609_610insT c.(607-612)ttcaggfs p.R204fs ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.R204fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.R204fs NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 204 ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) ATGAATCCTGCAAAAAACGTGG 0.446 8 690 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91732038 91732039 + Frame_Shift_Ins INS - - G rs143306820 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:91732038_91732039insG ENST00000359028.2 + 46 11465_11466 c.11240_11241insG c.(11239-11241)aggfs p.R3747fs AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs|AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 3747 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTTGCCCGGATGGGGGGGCAGC 0.535 T BRAF papillary thyroid 11 141 --- --- --- --- PCOLCE 5118 broad.mit.edu 37 7 100205413 100205414 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:100205413_100205414insC ENST00000223061.5 + 8 1446_1447 c.1166_1167insC c.(1165-1167)tccfs p.S389fs NM_002593.3 NP_002584.2 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 389 NTR. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity p.M392fs*>59(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGCAAGCAGTGCCCCCCCATGA 0.510 26 468 --- --- --- --- AASS 10157 broad.mit.edu 37 7 121719765 121719766 + Splice_Site INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:121719765_121719766insG ENST00000393376.1 - 20 2376_2377 c.2280_splice c.e20-1 p.T761_splice AASS_ENST00000417368.2_Splice_Site_p.T761_splice|AASS_ENST00000473553.1_5'UTR Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 761 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) GAGGAGTTGTTTCTGGTTAGAA 0.356 10 52 --- --- --- --- AKR1B10 57016 broad.mit.edu 37 7 134222395 134222396 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr7:134222395_134222396insA ENST00000359579.4 + 7 1043_1044 c.723_724insA c.(721-726)caaaaafs p.QK241fs NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 241 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 CTGCAAAGCACAAAAAAACCGC 0.446 8 333 --- --- --- --- PSD3 23362 broad.mit.edu 37 8 18413784 18413785 + Frame_Shift_Ins INS - - G rs28651847 byFrequency TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr8:18413784_18413785insG ENST00000440756.2 - 15 2970_2971 c.2868_2869insC c.(2866-2871)ccacaafs p.Q957fs PSD3_ENST00000286485.8_Frame_Shift_Ins_p.Q421fs|PSD3_ENST00000428502.2_Frame_Shift_Ins_p.Q284fs|PSD3_ENST00000523619.1_Frame_Shift_Ins_p.Q890fs|PSD3_ENST00000327040.8_Frame_Shift_Ins_p.Q955fs Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 956 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity p.D421Y(1)|p.D957Y(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) ACCTTCTTGTCGGGGGGATATG 0.480 7 486 --- --- --- --- ARFGEF1 10565 broad.mit.edu 37 8 68128855 68128856 + Frame_Shift_Ins INS - - G rs142098461 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr8:68128855_68128856insG ENST00000262215.3 - 33 5044_5045 c.4655_4656insC c.(4654-4656)cccfs p.P1552fs ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1552 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GAGATGGAGGTGGGGGGGCAGT 0.421 7 164 --- --- --- --- CCNE2 9134 broad.mit.edu 37 8 95906294 95906295 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr8:95906294_95906295insG ENST00000520509.1 - 3 319_320 c.67_68insC c.(67-69)agafs p.R23fs CCNE2_ENST00000396133.3_Frame_Shift_Ins_p.R23fs|CCNE2_ENST00000308108.4_Frame_Shift_Ins_p.R23fs O96020 CCNE2_HUMAN cyclin E2 23 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) CTGGGCTTCTTGGGGGGATTCC 0.455 8 373 --- --- --- --- ODF1 4956 broad.mit.edu 37 8 103572984 103572992 + In_Frame_Del DEL TGCAGCCCC TGCAGCCCC - rs3018444 byFrequency TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr8:103572984_103572992delTGCAGCCCC ENST00000285402.3 + 2 781_789 c.625_633delTGCAGCCCC c.(625-633)del p.CSP215del ODF1_ENST00000518835.1_Splice_Site_p.3_splice NM_024410.3 NP_077721.2 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 215 C-X-P repeat region. cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) CACTTCTCCTtgcagcccctgcagcccct 0.584 7 46 --- --- --- --- EXT1 2131 broad.mit.edu 37 8 118832019 118832020 + Frame_Shift_Ins INS - - G rs17439693 byFrequency TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr8:118832019_118832020insG ENST00000378204.2 - 6 2237_2238 c.1431_1432insC c.(1429-1434)ccccaafs p.Q478fs NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 478 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) GTGAATTTGGAGGGGGGCTTTA 0.520 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 7 213 --- --- --- --- DOCK8 81704 broad.mit.edu 37 9 418149 418150 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:418149_418150insG ENST00000432829.2 + 30 3894_3895 c.3578_3579insG c.(3577-3579)cgcfs p.R1193fs DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.R1161fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.R728fs|DOCK8_ENST00000453981.1_Frame_Shift_Ins_p.R1261fs NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1261 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AATGTGGCTCTGGCCATAGCAG 0.441 62 234 --- --- --- --- NFIB 4781 broad.mit.edu 37 9 14307384 14307385 + Frame_Shift_Del DEL CT CT - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:14307384_14307385delCT ENST00000380959.3 - 2 638_639 c.165_166delAG c.(163-168)agcafs p.RA55fs NFIB_ENST00000380921.3_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397581.2_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397579.2_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397575.3_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380934.4_Frame_Shift_Del_p.RA81fs|NFIB_ENST00000380953.1_Frame_Shift_Del_p.RA55fs NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 55 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) TCTTTGACTGCTCTTTCTTCAT 0.455 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 12 119 --- --- --- --- PIGO 84720 broad.mit.edu 37 9 35091522 35091523 + Frame_Shift_Ins INS - - G rs144233446 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:35091522_35091523insG ENST00000378617.3 - 7 2755_2756 c.2361_2362insC c.(2359-2364)cccttcfs p.F788fs PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs|PIGO_ENST00000361778.2_Intron NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 788 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity p.T788fs*5(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GCTTGAGAAGTGGGGGGGCCTG 0.604 8 237 --- --- --- --- RGP1 9827 broad.mit.edu 37 9 35750946 35750947 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:35750946_35750947insA ENST00000378078.4 + 5 588_589 c.447_448insA c.(445-450)atctttfs p.F150fs RGP1_ENST00000456972.2_Frame_Shift_Ins_p.F190fs NM_001080496.2 NP_001073965.2 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog (S. cerevisiae) 150 cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ACTCCCCTATCACTTTACTCAG 0.550 19 106 --- --- --- --- GNE 10020 broad.mit.edu 37 9 36219966 36219970 + Frame_Shift_Del DEL AAGGA AAGGA - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:36219966_36219970delAAGGA ENST00000396594.3 - 10 1885_1889 c.1774_1778delTCCTT c.(1774-1779)cfs p.SF592fs GNE_ENST00000377902.5_Frame_Shift_Del_p.SF561fs|GNE_ENST00000539815.1_Frame_Shift_Del_p.SF561fs|GNE_ENST00000447283.2_Frame_Shift_Del_p.SF487fs|GNE_ENST00000543356.2_Frame_Shift_Del_p.SF556fs|GNE_ENST00000539208.1_Frame_Shift_Del_p.SF451fs NM_001128227.2 NP_001121699.1 Q9Y223 GLCNE_HUMAN glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 561 N-acetylmannosamine kinase. cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 STAD - Stomach adenocarcinoma(86;0.228) TGCAGCACAGAAGGAGCTTCCGTGG 0.502 14 109 --- --- --- --- ZBTB5 9925 broad.mit.edu 37 9 37442161 37442162 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:37442161_37442162insG ENST00000307750.4 - 2 575_576 c.387_388insC c.(385-390)ccgtgafs p.*130fs NM_014872.2 NP_055687.1 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) ACGCGCTCACTGGGGGGAGACA 0.525 11 672 --- --- --- --- TRPM6 140803 broad.mit.edu 37 9 77377691 77377692 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:77377691_77377692insC ENST00000451710.3 - 26 4132_4133 c.3895_3896insG c.(3895-3897)actfs p.T1299fs TRPM6_ENST00000360774.1_Frame_Shift_Ins_p.T1299fs|TRPM6_ENST00000449912.2_Frame_Shift_Ins_p.T1294fs|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Frame_Shift_Ins_p.T1294fs|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Frame_Shift_Ins_p.T1299fs Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1299 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CTCAAGAAGTGCCCCCCTCTGC 0.480 7 354 --- --- --- --- NTRK2 4915 broad.mit.edu 37 9 87339241 87339241 + Frame_Shift_Del DEL G G - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:87339241delG ENST00000304053.6 + 8 1306 c.823delG c.(823-825)atfs p.D275fs NTRK2_ENST00000277120.3_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000359847.3_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000395866.2_Frame_Shift_Del_p.D119fs|NTRK2_ENST00000395882.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000323115.4_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376208.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376213.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376214.1_Frame_Shift_Del_p.D275fs NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 275 Ig-like C2-type 1. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 TGTAGGAGAAGATCAAGATTC 0.438 TSP Lung(25;0.17) 26 972 --- --- --- --- ZCCHC6 79670 broad.mit.edu 37 9 88938010 88938010 + Frame_Shift_Del DEL C C - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:88938010delC ENST00000277141.6 - 14 2946 c.522delG c.(520-522)ggfs p.G174fs ZCCHC6_ENST00000375963.3_Frame_Shift_Del_p.G885fs|ZCCHC6_ENST00000375960.2_Frame_Shift_Del_p.G762fs|ZCCHC6_ENST00000375961.2_Frame_Shift_Del_p.G885fs Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 885 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 CATCCCCTGACCCAGTGTAGG 0.458 9 948 --- --- --- --- ZNF189 7743 broad.mit.edu 37 9 104170501 104170502 + In_Frame_Ins INS - - GGA TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:104170501_104170502insGGA ENST00000374861.3 + 3 693_694 c.409_410insGGA c.(409-411)aga>GGAaga p.136_137insG ZNF189_ENST00000339664.2_In_Frame_Ins_p.150_151insG|ZNF189_ENST00000259395.4_In_Frame_Ins_p.108_109insG NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 150 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) CCATAAATGTGAAGAATGTGGA 0.401 32 218 --- --- --- --- ABCA1 19 broad.mit.edu 37 9 107593322 107593323 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:107593322_107593323insC ENST00000374736.3 - 14 2169_2170 c.1775_1776insG c.(1774-1776)gttfs p.V592fs NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 592 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGTAGGCGAAGCCCCCCCAGAC 0.540 9 254 --- --- --- --- ZNF462 58499 broad.mit.edu 37 9 109691601 109691602 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:109691601_109691602insG ENST00000277225.5 + 3 5697_5698 c.5408_5409insG c.(5407-5409)tggfs p.W1803fs ZNF462_ENST00000441147.2_Frame_Shift_Ins_p.W648fs|ZNF462_ENST00000457913.1_Frame_Shift_Ins_p.W1803fs Q96JM2 ZN462_HUMAN zinc finger protein 462 1803 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 GCCAGCAAGTTGGGGGGCTACT 0.550 7 175 --- --- --- --- DFNB31 25861 broad.mit.edu 37 9 117186710 117186711 + Frame_Shift_Ins INS - - GT TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:117186710_117186711insGT ENST00000362057.3 - 6 1487_1488 c.1319_1320insAC c.(1318-1320)gacfs p.D440fs DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.D57fs|DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.D89fs NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 440 A -> T (in dbSNP:rs4978584). inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGGCCATGGTGGCGTGTTCCTG 0.644 8 116 --- --- --- --- TNC 3371 broad.mit.edu 37 9 117797538 117797539 + Frame_Shift_Ins INS - - G rs148674204 byFrequency TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:117797538_117797539insG ENST00000350763.4 - 22 6142_6143 c.5731_5732insC c.(5731-5733)ggcfs p.G1911fs TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs|TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1911 Fibronectin type-III 15. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GACTGATGCCCGGGGGGGTCGC 0.475 11 350 --- --- --- --- CERCAM 51148 broad.mit.edu 37 9 131185522 131185523 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:131185522_131185523insG ENST00000372842.1 + 4 3316_3317 c.172_173insG c.(172-174)gggfs p.G58fs CERCAM_ENST00000372838.4_Frame_Shift_Ins_p.G136fs Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 136 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 TGCCAGGAACTGGGGGGCCGAC 0.545 9 901 --- --- --- --- NUP214 8021 broad.mit.edu 37 9 134019804 134019805 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:134019804_134019805insC ENST00000359428.5 + 12 1576_1577 c.1432_1433insC c.(1432-1434)cccfs p.P478fs RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P478fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P478fs|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 478 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TGCTGGTGGAGCCCCCACTGTG 0.545 T """DEK, SET, ABL1""" """AML, T-ALL""" 7 619 --- --- --- --- NUP214 8021 broad.mit.edu 37 9 134073007 134073008 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr9:134073007_134073008insC ENST00000359428.5 + 29 4270_4271 c.4126_4127insC c.(4126-4128)cccfs p.P1376fs NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs|NUP214_ENST00000465486.2_3'UTR P35658 NU214_HUMAN nucleoporin 214kDa 1376 11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TAATTTTACTGCCCCCCCGGTG 0.545 T """DEK, SET, ABL1""" """AML, T-ALL""" 12 261 --- --- --- --- GATA3 2625 broad.mit.edu 37 10 8100451 8100452 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:8100451_8100452insG ENST00000379328.3 + 3 993_994 c.425_426insG c.(424-426)tggfs p.W142fs GATA3_ENST00000346208.3_Frame_Shift_Ins_p.W142fs|GATA3_ENST00000461472.1_3'UTR NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 142 Poly-Ser. aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding p.G144fs*51(1) NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 TCCTCCTTGTCGGGGGGCCACG 0.728 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 7 123 --- --- --- --- KIAA1462 57608 broad.mit.edu 37 10 30317904 30317905 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:30317904_30317905insG ENST00000375377.1 - 3 1273_1274 c.1172_1173insC c.(1171-1173)cggfs p.R391fs NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 391 Pro-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TCCCAGTTCCAGGGGGGCCTGA 0.609 7 193 --- --- --- --- MTPAP 55149 broad.mit.edu 37 10 30653898 30653902 + Frame_Shift_Del DEL TCTCC TCTCC - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:30653898_30653902delTCTCC ENST00000358107.4 - 2 279_283 c.280_284delGGAGA c.(280-285)tfs p.GD94fs MTPAP_ENST00000488290.1_5'UTR Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase 0 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 CCCATCTTCATCTCCTCTTTGTCCT 0.639 8 17 --- --- --- --- ZEB1 6935 broad.mit.edu 37 10 31809832 31809833 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:31809832_31809833insG ENST00000446923.2 + 7 1912_1913 c.1521_1522insG c.(1519-1524)gaggggfs p.EG507fs ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 523 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) AAAGCTTTGAAGGGGGGGTGAA 0.371 9 324 --- --- --- --- NRP1 8829 broad.mit.edu 37 10 33502391 33502391 + Frame_Shift_Del DEL T T - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:33502391delT ENST00000265371.4 - 10 2062 c.1537delA c.(1537-1539)ggfs p.R513fs NRP1_ENST00000374822.4_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374823.5_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374816.3_Frame_Shift_Del_p.R513fs|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374821.5_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374867.2_Frame_Shift_Del_p.R513fs|NRP1_ENST00000395995.1_Frame_Shift_Del_p.R513fs|NRP1_ENST00000466932.1_5'UTR O14786 NRP1_HUMAN neuropilin 1 513 F5/8 type C 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) TTGAACTTCCTCATGAACACC 0.537 12 1019 --- --- --- --- PARD3 56288 broad.mit.edu 37 10 34400165 34400166 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:34400165_34400166insG ENST00000374789.3 - 25 4327_4328 c.4002_4003insC c.(4000-4005)ccccccfs p.PP1334fs PARD3_ENST00000374794.3_Frame_Shift_Ins_p.PP1222fs|PARD3_ENST00000545260.1_Frame_Shift_Ins_p.PP1244fs|PARD3_ENST00000346874.4_Frame_Shift_Ins_p.PP1297fs|PARD3_ENST00000374790.3_Frame_Shift_Ins_p.PP1274fs|PARD3_ENST00000545693.1_Frame_Shift_Ins_p.PP1318fs|PARD3_ENST00000350537.4_Frame_Shift_Ins_p.PP1288fs|PARD3_ENST00000374788.3_Frame_Shift_Ins_p.PP1331fs NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 1334 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) TGAGAAGGGGAGGGGGGCACAT 0.579 10 1447 --- --- --- --- NCOA4 8031 broad.mit.edu 37 10 51586311 51586312 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:51586311_51586312insC ENST00000452682.1 + 10 2039_2040 c.1787_1788insC c.(1786-1788)tccfs p.S596fs NCOA4_ENST00000443446.1_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000430396.2_Frame_Shift_Ins_p.S480fs|NCOA4_ENST00000374087.4_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000414907.2_Frame_Shift_Ins_p.S414fs|NCOA4_ENST00000438493.1_Frame_Shift_Ins_p.S596fs|NCOA4_ENST00000344348.6_Frame_Shift_Ins_p.S580fs|NCOA4_ENST00000374082.1_Frame_Shift_Ins_p.P535fs NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 580 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 GAACATAACTTCCCCCCAGACC 0.416 T RET papillary thyroid 9 500 --- --- --- --- SEC24C 9632 broad.mit.edu 37 10 75525559 75525560 + Splice_Site INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:75525559_75525560insC ENST00000339365.2 + 11 1530_1531 c.1366_splice c.e11-1 p.VP456_splice SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000540668.1_Intron NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 456 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) TTCCCACAGTTCCCCCCCAGTA 0.510 22 415 --- --- --- --- SEC31B 25956 broad.mit.edu 37 10 102265153 102265154 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:102265153_102265154insG ENST00000370345.3 - 10 1240_1241 c.1143_1144insC c.(1141-1146)ccaatgfs p.M382fs SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 382 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CTAATCCATTTGGGGGGTTTTT 0.490 12 1107 --- --- --- --- PPRC1 23082 broad.mit.edu 37 10 103906659 103906660 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr10:103906659_103906660insC ENST00000278070.2 + 9 3949_3950 c.3910_3911insC c.(3910-3912)cccfs p.P1304fs PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Frame_Shift_Ins_p.P271fs|PPRC1_ENST00000489648.1_Intron NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) CCGGAGCAGGACCCCCCCAAAA 0.569 7 115 --- --- --- --- OR52B6 340980 broad.mit.edu 37 11 5602545 5602546 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:5602545_5602546insC ENST00000345043.2 + 1 439_440 c.439_440insC c.(439-441)cccfs p.P147fs AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCATCTGCTCCCCCCTGCGA 0.510 7 661 --- --- --- --- ILK 3611 broad.mit.edu 37 11 6629352 6629353 + Frame_Shift_Ins INS - - G rs141701406 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:6629352_6629353insG ENST00000396751.2 + 2 622_623 c.166_167insG c.(166-168)gggfs p.G56fs ILK_ENST00000420936.2_Frame_Shift_Ins_p.G56fs|ILK_ENST00000537806.1_Intron|ILK_ENST00000299421.4_Frame_Shift_Ins_p.G56fs|ILK_ENST00000528995.1_Frame_Shift_Ins_p.G56fs NM_001014795.1 NP_001014795.1 Q13418 ILK_HUMAN integrin-linked kinase 56 Interaction with LIMS1. cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent cytosol|focal adhesion ATP binding|protein serine/threonine kinase activity central_nervous_system(1) 1 Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152) Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163) GTTGATCATGCGGGGGGCACGG 0.564 9 275 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19955425 19955426 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:19955425_19955426insG ENST00000396085.1 + 7 1996_1997 c.1635_1636insG c.(1633-1638)aaggggfs p.KG545fs NAV2_ENST00000360655.4_Frame_Shift_Ins_p.KG481fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.KG499fs|NAV2_ENST00000349880.4_Frame_Shift_Ins_p.KG545fs|NAV2_ENST00000396087.3_Frame_Shift_Ins_p.KG568fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.KG497fs NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 568 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCATCCCCAAAGGGGGGAAGCT 0.554 9 748 --- --- --- --- PAMR1 25891 broad.mit.edu 37 11 35513669 35513670 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:35513669_35513670insC ENST00000378880.2 - 3 747_748 c.302_303insG c.(301-303)gacfs p.D101fs PAMR1_ENST00000278360.3_Frame_Shift_Ins_p.D101fs|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Frame_Shift_Ins_p.D61fs|PAMR1_ENST00000378878.3_Frame_Shift_Ins_p.D101fs NM_001001991.1 NP_001001991.1 Q6UXH9 PAMR1_HUMAN peptidase domain containing associated with muscle regeneration 1 101 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 26 CATCCAAGGTACCCCCCCATGA 0.520 35 444 --- --- --- --- LRP4 4038 broad.mit.edu 37 11 46880747 46880748 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:46880747_46880748insC ENST00000378623.1 - 38 5746_5747 c.5504_5505insG c.(5503-5505)gctfs p.A1835fs LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1835 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CCCGGAGGAGGCCCCCCCGTGA 0.564 8 132 --- --- --- --- LRP4 4038 broad.mit.edu 37 11 46897491 46897492 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:46897491_46897492insC ENST00000378623.1 - 26 3804_3805 c.3562_3563insG c.(3562-3564)gaafs p.E1188fs NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 1188 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CTTGGCATTCTCCCCCCAGTCT 0.485 9 177 --- --- --- --- SLC43A3 29015 broad.mit.edu 37 11 57185234 57185235 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:57185234_57185235insG ENST00000395123.2 - 8 961_962 c.657_658insC c.(655-660)ccactafs p.L220fs SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs NM_001278201.1|NM_014096.2 NP_001265130.1|NP_054815.2 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 220 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 TAGCTGTAGTTGGGGGGCAGTG 0.564 11 253 --- --- --- --- ZDHHC5 25921 broad.mit.edu 37 11 57464257 57464258 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:57464257_57464258insC ENST00000287169.3 + 10 2396_2397 c.1034_1035insC c.(1033-1035)accfs p.T345fs ZDHHC5_ENST00000527985.1_Frame_Shift_Ins_p.T292fs NM_015457.2 NP_056272.2 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC-type containing 5 345 integral to membrane acyltransferase activity|zinc ion binding endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1) 18 GCCAAGGACAGCCCCCCGACAC 0.515 11 313 --- --- --- --- TMX2 51075 broad.mit.edu 37 11 57505845 57505846 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:57505845_57505846insC ENST00000278422.4 + 4 396_397 c.384_385insC c.(382-387)aaccccfs p.NP128fs TMX2_ENST00000378312.4_Frame_Shift_Ins_p.NP90fs|TMX2-CTNND1_ENST00000528395.1_Intron NM_015959.3 NP_057043.1 Q9Y320 TMX2_HUMAN thioredoxin-related transmembrane protein 2 128 Thioredoxin. cell redox homeostasis integral to membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2) 12 TGACGTGCAAACCCCCCCTATA 0.421 22 705 --- --- --- --- PATL1 219988 broad.mit.edu 37 11 59425145 59425146 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:59425145_59425146insG ENST00000300146.9 - 5 562_563 c.478_479insC c.(478-480)gggfs p.G160fs NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 160 Pro-rich.|Region N; interaction with decapping machinery. Q -> H (in Ref. 2; BAG54601). cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 TTCTGGACCCTGGGGGGGCCTC 0.455 7 215 --- --- --- --- DDB1 1642 broad.mit.edu 37 11 61093159 61093160 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:61093159_61093160insC ENST00000301764.7 - 6 1082_1083 c.685_686insG c.(685-687)catfs p.H229fs DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 229 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 AATGATGATGGCCCCCCCAAAG 0.490 Nucleotide excision repair (NER) 11 124 --- --- --- --- DDB1 1642 broad.mit.edu 37 11 61094367 61094368 + Splice_Site INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:61094367_61094368insG ENST00000301764.7 - 5 947 c.e5-2 DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_Splice_Site NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 CTGAGGGTCCTGGGGGGGAAAG 0.515 Nucleotide excision repair (NER) 10 219 --- --- --- --- CPSF7 79869 broad.mit.edu 37 11 61183884 61183885 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:61183884_61183885insG ENST00000340437.4 - 6 866_867 c.786_787insC c.(784-789)ccgtgtfs p.C263fs CPSF7_ENST00000448745.1_Frame_Shift_Ins_p.C211fs|CPSF7_ENST00000394888.4_Frame_Shift_Ins_p.C220fs|CPSF7_ENST00000439958.3_Frame_Shift_Ins_p.C211fs NM_024811.3 NP_079087.3 Q8N684 CPSF7_HUMAN cleavage and polyadenylation specific factor 7, 59kDa 220 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 22 GGCAGCACACTGGGGGGCTTAT 0.594 8 451 --- --- --- --- YIF1A 10897 broad.mit.edu 37 11 66055104 66055105 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:66055104_66055105insG ENST00000376901.4 - 4 575_576 c.391_392insC c.(391-393)gcafs p.A131fs YIF1A_ENST00000471387.2_5'UTR|YIF1A_ENST00000359461.6_Frame_Shift_Ins_p.A131fs NM_020470.2 NP_065203.2 O95070 YIF1A_HUMAN Yip1 interacting factor homolog A (S. cerevisiae) 131 protein transport|vesicle-mediated transport centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane p.R131L(1) endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1) 9 GAGGTCTTGCCGGGGGGGCAGA 0.624 9 138 --- --- --- --- DPP3 10072 broad.mit.edu 37 11 66272154 66272155 + Frame_Shift_Ins INS - - C rs142447712 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:66272154_66272155insC ENST00000532677.1 + 17 2408_2409 c.2007_2008insC c.(2005-2010)gcccccfs p.AP669fs DPP3_ENST00000360510.2_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000530165.1_Frame_Shift_Ins_p.AP620fs|DPP3_ENST00000531863.1_Frame_Shift_Ins_p.AP670fs|DPP3_ENST00000453114.1_Frame_Shift_Ins_p.AP650fs|DPP3_ENST00000541961.1_Frame_Shift_Ins_p.AP650fs NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 650 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 TCACTGATGCGCCCCCCGAGTG 0.579 13 390 --- --- --- --- ACTN3 89 broad.mit.edu 37 11 66321760 66321760 + RNA DEL C C - rs147846428 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:66321760delC ENST00000513398.1 + 0 566 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 acaaaaaataccaaaaaaaaa 0.498 8 7 --- --- --- --- KLHL35 283212 broad.mit.edu 37 11 75134761 75134762 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:75134761_75134762insC ENST00000539798.1 - 5 1536_1537 c.1537_1538insG c.(1537-1539)ggcfs p.G513fs KLHL35_ENST00000376292.4_Frame_Shift_Ins_p.G293fs NM_001039548.2 NP_001034637.2 Q6PF15 KLH35_HUMAN kelch-like family member 35 293 lung(2)|stomach(1) 3 GACAGCTGCCTCCCCCCACACA 0.564 8 479 --- --- --- --- HEPHL1 341208 broad.mit.edu 37 11 93839155 93839158 + Splice_Site DEL AGCC AGCC - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:93839155_93839158delAGCC ENST00000315765.9 + 17 2913_2915 c.2905_splice c.e17-1 p.969_splice NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 969 Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CACCTTTTAAAGCCATTAATGGAA 0.333 20 81 --- --- --- --- NCAM1 4684 broad.mit.edu 37 11 113076860 113076861 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:113076860_113076861insG ENST00000316851.7 + 4 556_557 c.556_557insG c.(556-558)gggfs p.G186fs NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000397957.4_3'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 196 Ig-like C2-type 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) AATCCTGGCACGGGGGGAGATC 0.495 10 852 --- --- --- --- ADAMTS8 11095 broad.mit.edu 37 11 130275723 130275724 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr11:130275723_130275724insG ENST00000257359.6 - 9 3105_3106 c.2399_2400insC c.(2398-2400)caafs p.Q800fs NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 800 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) ATTTGACTTTTGGGGGGAAGAC 0.579 7 597 --- --- --- --- FOXM1 2305 broad.mit.edu 37 12 2968087 2968088 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:2968087_2968088insG ENST00000342628.2 - 10 2235_2236 c.2122_2123insC c.(2122-2124)tgafs p.*708fs FOXM1_ENST00000359843.3_Frame_Shift_Ins_p.*670fs|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Frame_Shift_Ins_p.*655fs NM_202002.2 NP_973731.1 Q08050 FOXM1_HUMAN forkhead box M1 670 cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3) 24 OV - Ovarian serous cystadenocarcinoma(31;0.000622) CGGTGATTCAAGGGGGGGAGCA 0.579 7 126 --- --- --- --- HEBP1 50865 broad.mit.edu 37 12 13142224 13142225 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:13142224_13142225insC ENST00000536942.1 - 2 353_354 c.203_204insG c.(202-204)gacfs p.D68fs HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs Q9NRV9 HEBP1_HUMAN heme binding protein 1 68 circadian rhythm extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 7 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.153) TGTCATTGGTGCCCCCCGCATA 0.554 9 425 --- --- --- --- KRT78 196374 broad.mit.edu 37 12 53233701 53233702 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:53233701_53233702insC ENST00000359499.4 - 7 795_796 c.784_785insG c.(784-786)ggcfs p.G262fs KRT78_ENST00000304620.4_Frame_Shift_Ins_p.G372fs Q8N1N4 K2C78_HUMAN keratin 78 372 Linker 12.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CACCTTGGCCTGAGCGTCCTTG 0.634 20 189 --- --- --- --- AAAS 8086 broad.mit.edu 37 12 53715141 53715142 + Frame_Shift_Ins INS - - G rs138043864 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:53715141_53715142insG ENST00000209873.4 - 1 273_274 c.108_109insC c.(106-111)ccacttfs p.L37fs AAAS_ENST00000550286.1_Intron|AAAS_ENST00000549983.1_Intron|AAAS_ENST00000394384.3_Frame_Shift_Ins_p.L37fs NM_015665.5 NP_056480.1 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, alacrimia 37 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 CCCCGGAAGTCGGGGGGCGGGC 0.653 11 375 --- --- --- --- PDE1B 5153 broad.mit.edu 37 12 54971059 54971060 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:54971059_54971060insC ENST00000243052.3 + 15 1994_1995 c.1558_1559insC c.(1558-1560)cccfs p.P520fs PDE1B_ENST00000538346.1_Frame_Shift_Ins_p.P479fs|PDE1B_ENST00000550620.1_Frame_Shift_Ins_p.P500fs|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000394277.3_3'UTR NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 520 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TGAAGAAGAGGCCCCCCCATCC 0.559 12 394 --- --- --- --- NEUROD4 58158 broad.mit.edu 37 12 55421127 55421128 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:55421127_55421128insC ENST00000242994.3 + 2 1282_1283 c.904_905insC c.(904-906)cccfs p.P302fs NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 302 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 TCAGGCTGGTACCCCCCGTTAT 0.465 9 1120 --- --- --- --- OR6C4 341418 broad.mit.edu 37 12 55945453 55945454 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:55945453_55945454insG ENST00000394256.2 + 1 471_472 c.443_444insG c.(442-444)tggfs p.W148fs RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 TGCTCCTGGTTGGGGGGATTCC 0.455 9 544 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56558259 56558260 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:56558259_56558260insG ENST00000550164.1 - 28 3502_3503 c.3488_3489insC c.(3487-3489)cccfs p.P1163fs SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.P1132fs|RP11-977G19.5_ENST00000553176.1_RNA Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1132 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) GCAGGTTAGGTGGGGGGAGAGT 0.614 8 348 --- --- --- --- STAT2 6773 broad.mit.edu 37 12 56742816 56742817 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:56742816_56742817insG ENST00000314128.4 - 17 1490_1491 c.1467_1468insC c.(1465-1470)ccaggcfs p.G490fs STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs|STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000556539.1_5'UTR P52630 STAT2_HUMAN signal transducer and activator of transcription 2, 113kDa 490 interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway cytosol|nucleoplasm|plasma membrane calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3) 31 CAGGGGGCCTTGGGGGGGTTGG 0.594 18 297 --- --- --- --- MDM2 4193 broad.mit.edu 37 12 69233089 69233090 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:69233089_69233090insC ENST00000462284.1 + 11 1256_1257 c.954_955insC c.(952-957)aaccccfs p.NP318fs MDM2_ENST00000517852.1_Intron|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 312 Necessary for interaction with USP2.|Region II. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ATGAAATGAATCCCCCCCTTCC 0.426 A """sarcoma, glioma, colorectal, other""" 7 220 --- --- --- --- NAV3 89795 broad.mit.edu 37 12 78400511 78400512 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:78400511_78400512insC ENST00000397909.2 + 8 1366_1367 c.1193_1194insC c.(1192-1194)cccfs p.P398fs NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs Q8IVL0 NAV3_HUMAN neuron navigator 3 398 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACTGCTTTACGCCCCCCGCAGC 0.495 HNSCC(70;0.22) 19 563 --- --- --- --- ANKS1B 56899 broad.mit.edu 37 12 99640442 99640444 + In_Frame_Del DEL TTG TTG - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:99640442_99640444delTTG ENST00000547776.2 - 13 1954_1956 c.1955_1957delCAA c.(1954-1959)cta>c p.PI652del ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_In_Frame_Del_p.PI232del|ANKS1B_ENST00000329257.7_In_Frame_Del_p.PI652del NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 652 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TTATTTTCTATTGGAGACTGCTT 0.360 54 128 --- --- --- --- UHRF1BP1L 23074 broad.mit.edu 37 12 100451839 100451840 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:100451839_100451840insG ENST00000279907.7 - 14 3427_3428 c.3215_3216insC c.(3214-3216)cgtfs p.R1072fs UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 1072 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 GTGTTCTAACTGGGGGGGTCTC 0.371 19 758 --- --- --- --- STAB2 55576 broad.mit.edu 37 12 104049316 104049317 + Frame_Shift_Ins INS - - AG TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:104049316_104049317insAG ENST00000388887.2 + 15 1895_1896 c.1691_1692insAG c.(1690-1692)aaafs p.K564fs RP11-341G23.2_ENST00000551905.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 564 FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GAAGCATTGAATAACATGAAGG 0.455 7 329 --- --- --- --- USP30 84749 broad.mit.edu 37 12 109495864 109495865 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:109495864_109495865insC ENST00000257548.5 + 3 420_421 c.327_328insC c.(325-330)gaccccfs p.DP109fs USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs NM_032663.3 NP_116052.2 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 109 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 ATCAGAAGGAGCCCCCCTCACA 0.485 7 875 --- --- --- --- MVK 4598 broad.mit.edu 37 12 110029061 110029062 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:110029061_110029062insC ENST00000228510.3 + 9 860_861 c.784_785insC c.(784-786)cccfs p.P262fs MVK_ENST00000541384.1_Frame_Shift_Ins_p.P68fs|MVK_ENST00000539696.1_5'UTR|MVK_ENST00000392727.3_Frame_Shift_Ins_p.P210fs|MVK_ENST00000539575.1_Frame_Shift_Ins_p.P210fs NM_000431.2|NM_001114185.1 NP_000422.1|NP_001107657.1 Q03426 KIME_HUMAN mevalonate kinase 262 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|peroxisome ATP binding|identical protein binding|mevalonate kinase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 AGAGATCGTGGCCCCCCTCCTG 0.634 8 423 --- --- --- --- OAS3 4940 broad.mit.edu 37 12 113405382 113405383 + Frame_Shift_Del DEL AG AG - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:113405382_113405383delAG ENST00000228928.7 + 13 3028_3029 c.2849_2850delAG c.(2848-2850)afs p.K950fs RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 950 OAS domain 3. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 CGGCTGGTGAAGCACTGGTACC 0.584 23 61 --- --- --- --- RASAL1 8437 broad.mit.edu 37 12 113565942 113565943 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:113565942_113565943insC ENST00000546530.1 - 4 448_449 c.163_164insG c.(163-165)ggafs p.G55fs RASAL1_ENST00000261729.5_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000548055.1_Frame_Shift_Ins_p.G55fs|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Frame_Shift_Ins_p.G55fs NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 55 C2 1. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 CGTGTACTCCTCCCCCCAGAAG 0.614 7 694 --- --- --- --- PXMP2 5827 broad.mit.edu 37 12 133277869 133277870 + Frame_Shift_Ins INS - - G rs141115887 byFrequency TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr12:133277869_133277870insG ENST00000545677.1 + 3 250_251 c.47_48insG c.(46-48)gggfs p.G16fs PXMP2_ENST00000428960.2_Frame_Shift_Ins_p.G52fs|PXMP2_ENST00000317479.3_Frame_Shift_Ins_p.G145fs|PXMP2_ENST00000539093.1_Frame_Shift_Ins_p.G16fs|RP13-672B3.2_ENST00000537262.1_Frame_Shift_Ins_p.G16fs|PXMP2_ENST00000543589.1_Intron Q9NR77 PXMP2_HUMAN peroxisomal membrane protein 2, 22kDa 0 integral to membrane|peroxisomal membrane protein binding large_intestine(1)|liver(2)|lung(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06) CGCCAAGATGAGGGGGGGCTTC 0.614 16 596 --- --- --- --- KBTBD6 89890 broad.mit.edu 37 13 41705321 41705322 + Frame_Shift_Ins INS - - C rs147771080 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr13:41705321_41705322insC ENST00000379485.1 - 1 1560_1561 c.1326_1327insG c.(1324-1329)gggagafs p.R443fs KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 443 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) ATAGGGTCTCGCCCCCCCAAAA 0.470 18 229 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45149854 45149855 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr13:45149854_45149855insG ENST00000458659.2 - 1 846_847 c.356_357insC c.(355-357)gcafs p.A119fs TSC22D1_ENST00000501704.2_Frame_Shift_Ins_p.A119fs NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 119 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) CGGAGATCTGAGCAGGAGTAAC 0.490 7 104 --- --- --- --- ITM2B 9445 broad.mit.edu 37 13 48835348 48835348 + Frame_Shift_Del DEL A A - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr13:48835348delA ENST00000378565.5 + 6 992 c.789delA c.(787-789)ttfs p.L263fs ITM2B_ENST00000378549.5_Frame_Shift_Del_p.L157fs NM_021999.4 NP_068839.1 Q9Y287 ITM2B_HUMAN integral membrane protein 2B 263 nervous system development Golgi membrane|integral to membrane|nucleus|plasma membrane beta-amyloid binding endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;1.97e-06) TGGAAACTTTAATTTGTTCTT 0.333 11 94 --- --- --- --- MYCBP2 23077 broad.mit.edu 37 13 77672710 77672711 + Frame_Shift_Ins INS - - CAAT TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr13:77672710_77672711insCAAT ENST00000407578.2 - 56 8844_8845 c.8578_8579insATTG c.(8578-8580)aaafs p.K2860fs MYCBP2_ENST00000360084.5_Frame_Shift_Ins_p.K345fs|MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.K2822fs|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.K2822fs NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2822 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ATCAAGCTTTGTCTTAACAGGA 0.470 126 409 --- --- --- --- MBNL2 10150 broad.mit.edu 37 13 97928603 97928604 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr13:97928603_97928604insC ENST00000345429.6 + 2 895_896 c.114_115insC c.(112-117)caccccfs p.HP38fs MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs NM_144778.3 NP_659002.1 Q5VZF2 MBNL2_HUMAN muscleblind-like splicing regulator 2 38 mRNA processing|regulation of RNA splicing|RNA splicing cytoplasm|nucleus RNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.218) AATTTGCTCATCCCCCCAAAAG 0.411 7 362 --- --- --- --- OR4M1 441670 broad.mit.edu 37 14 20248930 20248931 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:20248930_20248931insG ENST00000315957.4 + 1 530_531 c.449_450insG c.(448-450)aggfs p.R150fs NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTCTCCTGGATGGGGGGCTTCA 0.505 11 873 --- --- --- --- OR4N2 390429 broad.mit.edu 37 14 20295776 20295777 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:20295776_20295777insC ENST00000568211.1 + 1 169_170 c.169_170insC c.(169-171)cccfs p.P57fs OR4N2_ENST00000315947.1_Frame_Shift_Ins_p.P57fs Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGGCTCACAGCCCCCCTCTAT 0.475 9 673 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20852646 20852647 + Frame_Shift_Ins INS - - C rs144584331 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:20852646_20852647insC ENST00000262715.5 - 23 3282_3283 c.3242_3243insG c.(3241-3243)ggtfs p.G1081fs TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1081 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding p.V1082fs*47(1) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CAGCTGCCACACCCCCCCACTC 0.584 11 201 --- --- --- --- RNASE6 6039 broad.mit.edu 37 14 21250266 21250267 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:21250266_21250267insC ENST00000304677.2 + 2 701_702 c.408_409insC c.(406-411)gaccccfs p.DP136fs NM_005615.4 NP_005606.1 Q93091 RNAS6_HUMAN ribonuclease, RNase A family, k6 136 defense response|RNA catabolic process extracellular region nucleic acid binding|pancreatic ribonuclease activity large_intestine(1) 1 all_cancers(95;0.00406) Epithelial(56;9.21e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0126) AGAAGAGCGATCCCCCCTACAA 0.465 7 664 --- --- --- --- TPPP2 122664 broad.mit.edu 37 14 21499213 21499214 + In_Frame_Ins INS - - AAT TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:21499213_21499214insAAT ENST00000321760.6 + 3 364_365 c.216_217insAAT c.(214-219)gacagt>gaAATcagt p.72_72D>EI NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000460647.2_In_Frame_Ins_p.72_72D>EI|TPPP2_ENST00000530140.2_In_Frame_Ins_p.72_72D>EI NM_173846.4 NP_776245.2 P59282 TPPP2_HUMAN tubulin polymerization-promoting protein family member 2 72 cytoplasm endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) AGTTCAAAGAGGCAGTGAAGGA 0.500 10 471 --- --- --- --- CTSG 1511 broad.mit.edu 37 14 25042847 25042848 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:25042847_25042848insG ENST00000216336.2 - 5 799_800 c.763_764insC c.(763-765)gtgfs p.V255fs NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 255 immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) AGTCAGTCACAGGGGGGTCTCC 0.490 7 935 --- --- --- --- ABHD12B 145447 broad.mit.edu 37 14 51347189 51347190 + Frame_Shift_Ins INS - - G rs141865189 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:51347189_51347190insG ENST00000337334.2 + 4 370_371 c.355_356insG c.(355-357)gggfs p.G119fs PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.G12fs|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.G42fs NM_001206673.1 NP_001193602.1 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B 119 hydrolase activity breast(2)|endometrium(1)|large_intestine(2)|lung(5) 10 all_epithelial(31;0.00481)|Breast(41;0.148) CCCCAGCTGCCGGGGGGAAGAT 0.490 8 422 --- --- --- --- TMX1 81542 broad.mit.edu 37 14 51716243 51716244 + Frame_Shift_Ins INS - - T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:51716243_51716244insT ENST00000457354.2 + 6 672_673 c.547_548insT c.(547-549)tttfs p.F183fs NM_030755.4 NP_110382.3 Q9H3N1 TMX1_HUMAN thioredoxin-related transmembrane protein 1 183 anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction endoplasmic reticulum membrane|integral to membrane|membrane fraction arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity endometrium(2)|large_intestine(2)|urinary_tract(1) 5 ATCATATACTGTTTTTGCTTTA 0.307 7 790 --- --- --- --- KCNH5 27133 broad.mit.edu 37 14 63174302 63174303 + Frame_Shift_Ins INS - - G rs35940222 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:63174302_63174303insG ENST00000322893.7 - 11 3158_3159 c.2890_2891insC c.(2890-2892)gatfs p.D964fs KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 964 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACATGGTATCTGGGGGGGTACT 0.391 20 474 --- --- --- --- GALNT16 57452 broad.mit.edu 37 14 69800299 69800300 + Frame_Shift_Ins INS - - G rs144140025 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:69800299_69800300insG ENST00000337827.4 + 9 1276_1277 c.949_950insG c.(949-951)gggfs p.G317fs GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 GATGGACATCTGGGGGGGAGAG 0.470 8 138 --- --- --- --- FOXN3 1112 broad.mit.edu 37 14 89878533 89878534 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:89878533_89878534insG ENST00000345097.4 - 2 403_404 c.287_288insC c.(286-288)ctcfs p.L96fs FOXN3_ENST00000261302.5_Frame_Shift_Ins_p.L96fs|FOXN3_ENST00000557258.1_Frame_Shift_Ins_p.L96fs|FOXN3_ENST00000555353.1_Frame_Shift_Ins_p.L96fs NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 96 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.P96fs*42(2) endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GGGCAGGGGATGGGGGGGTGTC 0.589 9 162 --- --- --- --- CHORDC2P 317775 broad.mit.edu 37 14 90203668 90203668 + RNA DEL C C - rs67505159 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:90203668delC ENST00000555070.1 - 0 170 CTCTTTCTTTCtttttttttt 0.368 4 2 --- --- --- --- ATXN3 4287 broad.mit.edu 37 14 92563097 92563098 + Frame_Shift_Del DEL GC GC - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:92563097_92563098delGC ENST00000545170.1 - 2 177_178 c.109_110delGC c.(109-111)afs p.A37fs ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000532032.1_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000503767.1_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000429774.2_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000393287.5_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000340660.6_Intron NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5 NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2 P54252 ATX3_HUMAN ataxin 3 37 Josephin. cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 12 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) CAGCTGATGTGCAATTGAGGAT 0.396 29 243 --- --- --- --- UNC79 57578 broad.mit.edu 37 14 94046588 94046589 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:94046588_94046589insG ENST00000553484.1 + 19 2681_2682 c.2527_2528insG c.(2527-2529)gggfs p.G843fs UNC79_ENST00000256339.4_Frame_Shift_Ins_p.G666fs|UNC79_ENST00000555664.1_Frame_Shift_Ins_p.G843fs|UNC79_ENST00000393151.2_Frame_Shift_Ins_p.G843fs Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 843 integral to membrane p.I654_H670del(1)|p.G668fs*34(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CCAAGCCCCCTGGGGGGGATCC 0.450 7 263 --- --- --- --- CLMN 79789 broad.mit.edu 37 14 95669613 95669614 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr14:95669613_95669614insG ENST00000298912.4 - 9 2185_2186 c.2072_2073insC c.(2071-2073)cagfs p.Q691fs NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 691 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) CACAGCTGCTTGGGGGGCTGGA 0.559 7 358 --- --- --- --- OR4M2 390538 broad.mit.edu 37 15 22369023 22369024 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr15:22369023_22369024insG ENST00000332663.2 + 1 546_547 c.448_449insG c.(448-450)gggfs p.G150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R150M(2)|p.R150W(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTCTCCTGGAGGGGGGGCTTC 0.500 11 346 --- --- --- --- MAGEL2 54551 broad.mit.edu 37 15 23889765 23889766 + Frame_Shift_Ins INS - - CTCA TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr15:23889765_23889766insCTCA ENST00000532292.1 - 1 1409_1410 c.1315_1316insTGAG c.(1315-1317)gcgfs p.A439fs NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CTCCGAGCGCTGGACAGGCACC 0.500 19 34 --- --- --- --- RYR3 6263 broad.mit.edu 37 15 34078053 34078054 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr15:34078053_34078054insC ENST00000389232.4 + 66 9529_9530 c.9459_9460insC c.(9457-9462)ctccccfs p.LP3153fs RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3153 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) CTGAGAACCTGCCCCCCAGCAC 0.564 9 279 --- --- --- --- C15orf52 388115 broad.mit.edu 37 15 40630771 40630772 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr15:40630771_40630772insG ENST00000559313.1 - 5 624_625 c.609_610insC c.(607-612)cccgcafs p.A204fs NM_207380.2 NP_997263.2 Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 204 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) GCCACCTGCGTGGGGGGGCTTC 0.584 OREG0023060 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 145 --- --- --- --- SORD 6652 broad.mit.edu 37 15 45353365 45353366 + Frame_Shift_Ins INS - - C rs11542063 byFrequency TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr15:45353365_45353366insC ENST00000267814.9 + 4 546_547 c.366_367insC c.(364-369)acccccfs p.TP122fs SORD_ENST00000558580.1_Frame_Shift_Ins_p.TP101fs NM_003104.5 NP_003095.2 Q00796 DHSO_HUMAN sorbitol dehydrogenase 122 fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(4) 9 all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122) all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706) NADH(DB00157) TCTGTGCCACGCCCCCCGATGA 0.530 10 274 --- --- --- --- MYO5A 4644 broad.mit.edu 37 15 52643648 52643649 + Frame_Shift_Ins INS - - T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr15:52643648_52643649insT ENST00000399231.3 - 28 3894_3895 c.3651_3652insA c.(3649-3654)aatgaafs p.NE1217fs MYO5A_ENST00000399233.2_Frame_Shift_Ins_p.NE1217fs|MYO5A_ENST00000553916.1_Frame_Shift_Ins_p.NE1217fs|MYO5A_ENST00000356338.6_Frame_Shift_Ins_p.NE1217fs|MYO5A_ENST00000358212.6_Frame_Shift_Ins_p.NE1217fs NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1217 actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TCATTCTTCAGTTTTTTGTTTT 0.470 7 1774 --- --- --- --- HERC1 8925 broad.mit.edu 37 15 63918305 63918306 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr15:63918305_63918306insG ENST00000443617.2 - 71 13240_13241 c.13153_13154insC c.(13153-13155)gtafs p.V4385fs NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4385 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CGCCCCATACTGGGGGGGCACT 0.559 7 251 --- --- --- --- KIF7 374654 broad.mit.edu 37 15 90188350 90188351 + Frame_Shift_Ins INS - - G rs147779399 by1000genomes TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr15:90188350_90188351insG ENST00000394412.3 - 10 2160_2161 c.2084_2085insC c.(2083-2085)cgcfs p.R695fs NM_198525.2 NP_940927.2 Q2M1P5 KIF7_HUMAN kinesin family member 7 695 microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway cilium ATP binding|microtubule motor activity|protein binding central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 25 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) AGGCTGTGGCAGGGGGGACCTG 0.639 10 322 --- --- --- --- IGF1R 3480 broad.mit.edu 37 15 99251108 99251109 + Frame_Shift_Ins INS - - G rs121912426 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr15:99251108_99251109insG ENST00000268035.6 + 2 1023_1024 c.412_413insG c.(412-414)gggfs p.G138fs IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 138 R -> Q (in IGF1RES; has decreased IGF1R function). anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GAACATTACTCGGGGGGCCATC 0.510 8 359 --- --- --- --- LINS 55180 broad.mit.edu 37 15 101109855 101109856 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr15:101109855_101109856insG ENST00000314742.8 - 7 2083_2084 c.1861_1862insC c.(1861-1863)ggcfs p.G621fs NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 621 p.R621fs*13(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 TTGAGAGGCCCGGGGGGAAGAC 0.525 19 1515 --- --- --- --- MGRN1 23295 broad.mit.edu 37 16 4700413 4700414 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:4700413_4700414insC ENST00000399577.5 + 2 229_230 c.136_137insC c.(136-138)cccfs p.P46fs MGRN1_ENST00000588994.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000262370.7_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000586183.1_Frame_Shift_Ins_p.P46fs|MGRN1_ENST00000415496.1_Frame_Shift_Ins_p.P46fs NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 46 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 GAAATTCGACACCCCCCACCCT 0.465 7 655 --- --- --- --- NOMO1 23420 broad.mit.edu 37 16 14980694 14980695 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:14980694_14980695insC ENST00000287667.7 + 28 3470_3471 c.3299_3300insC c.(3298-3300)tccfs p.S1100fs NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1100 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 TTCTTCCATTTCCCCCCACTGC 0.475 21 2004 --- --- --- --- DNAH3 55567 broad.mit.edu 37 16 20966297 20966298 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:20966297_20966298insG ENST00000261383.3 - 55 10907_10908 c.10908_10909insC c.(10906-10911)ccaaggfs p.R3637fs DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3637 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CGGAGCCCTTTGGGGGGCTCAT 0.510 13 547 --- --- --- --- RRN3P1 730092 broad.mit.edu 37 16 21814059 21814060 + RNA INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:21814059_21814060insG ENST00000546471.1 - 0 1607 CCTATAACAAAGGGGGGGGAAA 0.381 10 68 --- --- --- --- HS3ST2 9956 broad.mit.edu 37 16 22926721 22926722 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:22926721_22926722insA ENST00000261374.3 + 2 1376_1377 c.942_943insA c.(940-945)ttaaaafs p.LK314fs NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 314 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) TCCCTTGCTTGAAAAAAACAGA 0.485 7 539 --- --- --- --- SEZ6L2 26470 broad.mit.edu 37 16 29891248 29891249 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:29891248_29891249insG ENST00000308713.5 - 9 2036_2037 c.1509_1510insC c.(1507-1512)ccatgcfs p.C504fs SEZ6L2_ENST00000537485.1_Frame_Shift_Ins_p.C460fs|SEZ6L2_ENST00000350527.3_Frame_Shift_Ins_p.C434fs|SEZ6L2_ENST00000346932.5_Frame_Shift_Ins_p.C390fs NM_001114099.2|NM_201575.3 NP_001107571.1|NP_963869.2 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 504 Sushi 2. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCGATGGCATTGGGGGGCCCAG 0.604 10 657 --- --- --- --- TBX6 6911 broad.mit.edu 37 16 30100077 30100078 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:30100077_30100078insC ENST00000553607.1 - 4 1397_1398 c.704_705insG c.(703-705)gatfs p.D235fs TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs O95947 TBX6_HUMAN T-box 6 235 anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 9 AGGAGGCCATGCCCCCCCAGTG 0.629 10 217 --- --- --- --- MT4 84560 broad.mit.edu 37 16 56602768 56602769 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:56602768_56602769insC ENST00000219162.3 + 3 193_194 c.113_114insC c.(112-114)tccfs p.S38fs NM_032935.2 NP_116324.1 P47944 MT4_HUMAN metallothionein 4 38 cytoplasm copper ion binding|zinc ion binding ovary(1)|upper_aerodigestive_tract(1) 2 TGTCCCTGCTGCCCCCCGGGCT 0.599 25 790 --- --- --- --- HERPUD1 9709 broad.mit.edu 37 16 56977180 56977181 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:56977180_56977181insC ENST00000439977.2 + 8 1351_1352 c.1154_1155insC c.(1153-1155)gccfs p.A385fs HERPUD1_ENST00000344114.4_Frame_Shift_Ins_p.A226fs|HERPUD1_ENST00000379792.2_Frame_Shift_Ins_p.A360fs|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Frame_Shift_Ins_p.A384fs NM_001010989.1|NM_014685.2 NP_001010989.1|NP_055500.1 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 385 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 CTTCCAGAAGGCCCCCCAGCCA 0.530 T ERG prostate 11 813 --- --- --- --- C16orf70 80262 broad.mit.edu 37 16 67180988 67180989 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:67180988_67180989insC ENST00000219139.3 + 16 1411_1412 c.1223_1224insC c.(1222-1224)gccfs p.A408fs C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 408 p.R411fs*4(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) ACCCTGTATGGCCCCCCCAGGC 0.594 14 265 --- --- --- --- PLA2G15 23659 broad.mit.edu 37 16 68289854 68289855 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:68289854_68289855insG ENST00000219345.5 + 5 771_772 c.688_689insG c.(688-690)gggfs p.G230fs PLA2G15_ENST00000444212.2_Intron|PLA2G15_ENST00000413021.2_Frame_Shift_Ins_p.G136fs|PLA2G15_ENST00000566188.1_Frame_Shift_Ins_p.R188fs NM_012320.3 NP_036452.1 Q8NCC3 PAG15_HUMAN phospholipase A2, group XV 230 fatty acid catabolic process extracellular region|lysosome lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 12 GGGTGCGCCCTGGGGGGGCGTG 0.629 12 206 --- --- --- --- HP 3240 broad.mit.edu 37 16 72093094 72093095 + Frame_Shift_Ins INS - - CTGAGCA TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:72093094_72093095insCTGAGCA ENST00000569639.1 + 4 302_303 c.272_273insCTGAGCA c.(271-273)ttgfs p.L91fs HP_ENST00000562526.1_Intron|HPR_ENST00000356967.5_Intron|HP_ENST00000398131.2_Intron|HP_ENST00000355906.5_Intron|HP_ENST00000570083.1_Intron|HP_ENST00000565574.1_Intron P00738 HPT_HUMAN haptoglobin 92 Sushi 2. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) GCAGGTGGGTGCTGAGCACTTA 0.520 9 246 --- --- --- --- RFWD3 55159 broad.mit.edu 37 16 74660329 74660329 + Frame_Shift_Del DEL A A - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr16:74660329delA ENST00000361070.4 - 12 2190 c.2093delT c.(2092-2094)cafs p.L699fs RFWD3_ENST00000571750.1_Frame_Shift_Del_p.L699fs NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 699 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 TTTGGTCAATAGTTTGCAAGT 0.468 30 677 --- --- --- --- RPA1 6117 broad.mit.edu 37 17 1782982 1782983 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:1782982_1782983insG ENST00000254719.5 + 11 1191_1192 c.1081_1082insG c.(1081-1083)gggfs p.G361fs NM_002945.3 NP_002936.1 P27694 RFA1_HUMAN replication protein A1, 70kDa 361 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2) 10 TGCTACACTGTGGGGGGAAGAT 0.530 Nucleotide excision repair (NER) 11 523 --- --- --- --- PLSCR3 57048 broad.mit.edu 37 17 7294058 7294059 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:7294058_7294059insC ENST00000535512.1 - 10 1742_1743 c.725_726insG c.(724-726)gctfs p.A242fs PLSCR3_ENST00000574401.1_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576362.1_Frame_Shift_Ins_p.A218fs|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|PLSCR3_ENST00000324822.11_Frame_Shift_Ins_p.A242fs|PLSCR3_ENST00000576201.1_Frame_Shift_Ins_p.A242fs Q9NRY6 PLS3_HUMAN phospholipid scramblase 3 242 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding endometrium(1)|kidney(2)|urinary_tract(1) 4 Prostate(122;0.173) CTCGGACCAGGCCCCCCCACTG 0.614 8 173 --- --- --- --- EFNB3 1949 broad.mit.edu 37 17 7612855 7612856 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:7612855_7612856insC ENST00000226091.2 + 5 1381_1382 c.984_985insC c.(982-987)ggccccfs p.GP328fs NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 328 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) TGCAGGATGGGCCCCCCCAGAG 0.574 10 179 --- --- --- --- MYH4 4622 broad.mit.edu 37 17 10369888 10369889 + Frame_Shift_Ins INS - - C rs143441825 byFrequency TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:10369888_10369889insC ENST00000255381.2 - 3 284_285 c.174_175insG c.(172-177)ggaggtfs p.G59fs CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 59 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCTGTCACCTTCCCCCCTTCCC 0.460 8 529 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27959374 27959375 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:27959374_27959375insG ENST00000269033.3 - 15 2907_2908 c.2756_2757insC c.(2755-2757)cgafs p.R919fs RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 919 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATGAATGTTCTGGGGGGGCTTC 0.480 39 816 --- --- --- --- ACACA 31 broad.mit.edu 37 17 35600370 35600371 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:35600370_35600371insG ENST00000353139.5 - 22 3328_3329 c.2847_2848insC c.(2845-2850)ccatgtfs p.C950fs ACACA_ENST00000360679.3_Frame_Shift_Ins_p.C855fs|ACACA_ENST00000394406.2_Frame_Shift_Ins_p.C913fs|ACACA_ENST00000335166.5_Frame_Shift_Ins_p.C835fs NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 913 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TTCTCCACATTGGGGGGAATGC 0.470 7 670 --- --- --- --- PCGF2 7703 broad.mit.edu 37 17 36896586 36896587 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:36896586_36896587insC ENST00000580830.1 - 4 770_771 c.69_70insG c.(67-72)ggacttfs p.L24fs PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.L24fs P35227 PCGF2_HUMAN polycomb group ring finger 2 24 negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 Breast(7;9.07e-22) TCGATGAAGTACCCCCCGCAGA 0.629 7 364 --- --- --- --- TTC25 83538 broad.mit.edu 37 17 40104559 40104560 + RNA INS - - A rs61095073 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:40104559_40104560insA ENST00000591658.1 + 0 1213 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) accctcactccaaaaaaaaaaa 0.416 9 25 --- --- --- --- KCNH4 23415 broad.mit.edu 37 17 40328258 40328259 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:40328258_40328259insC ENST00000264661.3 - 5 974_975 c.642_643insG c.(640-645)ggctcgfs p.S215fs KCNH4_ENST00000607371.1_Frame_Shift_Ins_p.S215fs NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 215 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AGGCAGCGAGACCCCCCCACGG 0.604 11 229 --- --- --- --- STAT3 6774 broad.mit.edu 37 17 40468878 40468879 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:40468878_40468879insG ENST00000264657.5 - 23 2497_2498 c.2185_2186insC c.(2185-2187)cacfs p.H729fs STAT3_ENST00000588969.1_Frame_Shift_Ins_p.H729fs|STAT3_ENST00000389272.3_Frame_Shift_Ins_p.H631fs|STAT3_ENST00000585517.1_Intron|STAT3_ENST00000404395.3_Frame_Shift_Ins_p.H728fs NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 729 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) ATCTAAAGTGCGGGGGGACATC 0.510 Hyperimmunoglobulin E Recurrent Infection Syndrome 8 813 --- --- --- --- KANSL1 284058 broad.mit.edu 37 17 44248730 44248731 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:44248730_44248731insC ENST00000262419.6 - 2 1249_1250 c.779_780insG c.(778-780)ggtfs p.G260fs KANSL1_ENST00000575318.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000574590.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000572904.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000432791.1_Frame_Shift_Ins_p.G260fs|KANSL1_ENST00000393476.3_5'UTR NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 260 MLL1 complex protein binding CCAATTTGACACCCCCCAAGTT 0.470 7 244 --- --- --- --- DLX4 1748 broad.mit.edu 37 17 48051124 48051125 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:48051124_48051125insG ENST00000240306.3 + 3 835_836 c.540_541insG c.(538-543)tcggggfs p.SG180fs DLX4_ENST00000411890.2_Frame_Shift_Ins_p.SG108fs NM_138281.2 NP_612138.1 Q92988 DLX4_HUMAN distal-less homeobox 4 180 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3) 10 AGCAGAATTCTGGGGGGCAGGA 0.550 7 285 --- --- --- --- CA10 56934 broad.mit.edu 37 17 50008356 50008357 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:50008356_50008357insC ENST00000451037.2 - 3 1212_1213 c.272_273insG c.(271-273)gagfs p.E91fs CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 91 brain development p.G91V(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TTACCTTCCTGCCCCCCGTGTT 0.490 20 975 --- --- --- --- OR4D2 124538 broad.mit.edu 37 17 56247751 56247752 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:56247751_56247752insA ENST00000545221.1 + 1 735_736 c.735_736insA c.(733-738)attggtfs p.G246fs NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 CCCACATCATCGTGGTTTCCAT 0.530 23 577 --- --- --- --- RNF43 54894 broad.mit.edu 37 17 56435160 56435161 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:56435160_56435161insC ENST00000584437.1 - 8 3931_3932 c.1976_1977insG c.(1975-1977)gccfs p.A659fs RNF43_ENST00000500597.2_Frame_Shift_Ins_p.A618fs|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.A618fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.A532fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.A659fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.A659fs Q68DV7 RNF43_HUMAN ring finger protein 43 659 Pro-rich. endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding p.G659fs*41(1) NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTCGGAGGGACCCCCCCGCCT 0.599 9 206 --- --- --- --- ABCA6 23460 broad.mit.edu 37 17 67083603 67083604 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:67083603_67083604insG ENST00000284425.2 - 29 3883_3884 c.3709_3710insC c.(3709-3711)aagfs p.K1237fs ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1237 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATCTCTACTTTGGGGGGAAATT 0.376 10 602 --- --- --- --- ICT1 3396 broad.mit.edu 37 17 73015832 73015833 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:73015832_73015833insG ENST00000301585.5 + 3 274_275 c.261_262insG c.(259-264)ccggggfs p.PG87fs NM_001545.1 NP_001536.1 Q14197 ICT1_HUMAN immature colon carcinoma transcript 1 87 mitochondrial translational termination mitochondrial large ribosomal subunit aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1) 6 all_lung(278;0.226) GTAGTGGTCCTGGGGGGCAGAA 0.441 8 976 --- --- --- --- SEC14L1 6397 broad.mit.edu 37 17 75205481 75205482 + Frame_Shift_Del DEL CT CT - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr17:75205481_75205482delCT ENST00000413679.2 + 14 1837_1838 c.1534_1535delCT c.(1534-1536)gfs p.L512fs SEC14L1_ENST00000436233.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000591437.1_Frame_Shift_Del_p.L478fs|SEC14L1_ENST00000430767.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000443798.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000392476.2_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000431431.2_Frame_Shift_Del_p.L478fs|SEC14L1_ENST00000585618.1_Frame_Shift_Del_p.L512fs NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 512 transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 TGCAGAGGAGCTGGAGAACGAA 0.550 10 76 --- --- --- --- IMPA2 3613 broad.mit.edu 37 18 12030413 12030414 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr18:12030413_12030414insA ENST00000269159.3 + 8 1065_1066 c.823_824insA c.(823-825)ggcfs p.G275fs IMPA2_ENST00000588927.1_Frame_Shift_Ins_p.G86fs|IMPA2_ENST00000589238.1_Frame_Shift_Ins_p.G86fs NM_014214.2 NP_055029.1 O14732 IMPA2_HUMAN inositol(myo)-1(or 4)-monophosphatase 2 275 inositol phosphate dephosphorylation|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1) 12 Lithium(DB01356) GCTCATAGCTCAGGCCTTACAG 0.619 9 278 --- --- --- --- DSG4 147409 broad.mit.edu 37 18 28992968 28992969 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr18:28992968_28992969insC ENST00000359747.4 + 15 2619_2620 c.2590_2591insC c.(2590-2592)gatfs p.D864fs DSG4_ENST00000308128.4_Frame_Shift_Ins_p.D845fs|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 845 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GACTCTTGCTGAGATCTGCTTA 0.421 18 242 --- --- --- --- ALPK2 115701 broad.mit.edu 37 18 56246441 56246442 + Frame_Shift_Ins INS - - C rs12606191 byFrequency TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr18:56246441_56246442insC ENST00000361673.3 - 4 1779_1780 c.1566_1567insG c.(1564-1569)ggaggafs p.G523fs ALPK2_ENST00000587399.1_5'UTR NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 523 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CATAAGTCCTTTCCCCCCACTC 0.520 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 419 --- --- --- --- ZNF407 55628 broad.mit.edu 37 18 72343478 72343479 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr18:72343478_72343479insC ENST00000299687.5 + 1 503_504 c.503_504insC c.(502-504)tccfs p.S168fs ZNF407_ENST00000582337.1_Frame_Shift_Ins_p.S168fs|ZNF407_ENST00000577538.1_Frame_Shift_Ins_p.S168fs|ZNF407_ENST00000309902.6_Frame_Shift_Ins_p.S168fs NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 168 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GAATCTCCTTTCCCCCCGAAAG 0.396 8 380 --- --- --- --- LRG1 116844 broad.mit.edu 37 19 4538452 4538453 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:4538452_4538453insG ENST00000306390.6 - 2 1003_1004 c.543_544insC c.(541-546)ccggctfs p.A182fs CTB-50L17.14_ENST00000586020.1_Intron NM_052972.2 NP_443204.1 P02750 A2GL_HUMAN leucine-rich alpha-2-glycoprotein 1 182 extracellular region|membrane NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GCCAGCAGCCCGGGGGGCAGTT 0.619 9 259 --- --- --- --- C3 718 broad.mit.edu 37 19 6697480 6697481 + Frame_Shift_Ins INS - - G rs137956083 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:6697480_6697481insG ENST00000245907.6 - 21 2762_2763 c.2670_2671insC c.(2668-2673)ccagtcfs p.V891fs NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 891 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) AACGAGGACTTGGGGGGGATGG 0.574 12 319 --- --- --- --- SH2D3A 10045 broad.mit.edu 37 19 6755179 6755180 + Frame_Shift_Ins INS - - G rs139813452 byFrequency TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:6755179_6755180insG ENST00000245908.6 - 5 912_913 c.643_644insC c.(643-645)gacfs p.D215fs SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs|SH2D3A_ENST00000599563.1_5'UTR NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 215 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 GGAGGGTGTCCGGGGGGGCTTC 0.653 21 510 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9064309 9064310 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:9064309_9064310insG ENST00000397910.4 - 3 23339_23340 c.23136_23137insC c.(23134-23139)ccctccfs p.S7713fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7715 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAGGGGAGAGGGGGGGATAT 0.530 12 340 --- --- --- --- C3P1 388503 broad.mit.edu 37 19 10160752 10160753 + RNA INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:10160752_10160753insC ENST00000495140.1 + 0 1411 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 TAGTGGTCGTGCCCCCCACCTC 0.599 8 277 --- --- --- --- CD97 976 broad.mit.edu 37 19 14516662 14516663 + Frame_Shift_Ins INS - - ACAGG TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:14516662_14516663insACAGG ENST00000242786.5 + 14 1812_1813 c.1732_1733insACAGG c.(1732-1734)gcgfs p.A578fs CD97_ENST00000357355.3_Frame_Shift_Ins_p.A529fs|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Frame_Shift_Ins_p.A485fs NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 578 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CATCCAGGGCTCGCGCACCACC 0.639 20 162 --- --- --- --- OR7C1 26664 broad.mit.edu 37 19 14910413 14910414 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:14910413_14910414insA ENST00000248073.2 - 1 609_610 c.535_536insT c.(535-537)tgafs p.*179fs OR7A5_ENST00000601611.1_Intron NM_198944.1 NP_945182.1 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, member 1 179 sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity p.C179fs*7(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1) 18 AAGTAGATCACAAAAAAAGTGT 0.475 7 489 --- --- --- --- HSH2D 84941 broad.mit.edu 37 19 16268114 16268115 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:16268114_16268115insC ENST00000593154.2 + 8 1100_1101 c.569_570insC c.(568-570)tccfs p.S190fs HSH2D_ENST00000253680.6_Frame_Shift_Ins_p.S190fs|HSH2D_ENST00000397372.4_Frame_Shift_Ins_p.S101fs|HSH2D_ENST00000588246.1_Frame_Shift_Ins_p.S190fs NM_032855.2 NP_116244.1 Q96JZ2 HSH2D_HUMAN hematopoietic SH2 domain containing 190 cytoplasm|nucleus central_nervous_system(1)|kidney(1)|large_intestine(2) 4 ACTTCCTCCTGCCCCCCAAAAT 0.554 7 150 --- --- --- --- NWD1 284434 broad.mit.edu 37 19 16860826 16860827 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:16860826_16860827insC ENST00000524140.2 + 6 1791_1792 c.1373_1374insC c.(1372-1374)tccfs p.S458fs NWD1_ENST00000339803.6_Frame_Shift_Ins_p.S323fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000552788.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.S252fs NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 458 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CCTCTCAACTGCCCCCCGAGGG 0.629 8 491 --- --- --- --- OCEL1 79629 broad.mit.edu 37 19 17337839 17337840 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:17337839_17337840insC ENST00000215061.4 + 3 327_328 c.283_284insC c.(283-285)cccfs p.P95fs OCEL1_ENST00000601529.1_Frame_Shift_Ins_p.P95fs|OCEL1_ENST00000601576.1_3'UTR|OCEL1_ENST00000597836.1_Frame_Shift_Ins_p.P39fs NM_024578.1 NP_078854.1 Q9H607 OCEL1_HUMAN occludin/ELL domain containing 1 95 Pro-rich. central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2) 7 CAAAACCAGCGCCCCCCGCCCT 0.639 7 304 --- --- --- --- MPV17L2 84769 broad.mit.edu 37 19 18305818 18305819 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:18305818_18305819insC ENST00000599612.2 + 4 586_587 c.486_487insC c.(484-489)gtccccfs p.VP162fs MPV17L2_ENST00000534474.2_Frame_Shift_Ins_p.P137fs NM_032683.2 NP_116072.2 Q567V2 M17L2_HUMAN MPV17 mitochondrial membrane protein-like 2 162 integral to membrane large_intestine(1)|lung(2)|urinary_tract(1) 4 TCCTCTTCGTGCCCCCCCAATT 0.653 10 360 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31769141 31769142 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:31769141_31769142insC ENST00000240587.4 - 2 1884_1885 c.1557_1558insG c.(1555-1560)ggttgafs p.*520fs NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 520 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) AGGATATCAAGCCCCCCCTTGG 0.500 27 655 --- --- --- --- NUDT19 390916 broad.mit.edu 37 19 33200241 33200242 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:33200241_33200242insA ENST00000397061.3 + 2 865_866 c.865_866insA c.(865-867)aagfs p.K289fs NM_001105570.1 NP_001099040.1 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 19 289 mitochondrion|peroxisome hydrolase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Esophageal squamous(110;0.137) AGAAGGACTGGAAAGGTGGCTG 0.455 16 423 --- --- --- --- FAM98C 147965 broad.mit.edu 37 19 38899415 38899416 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:38899415_38899416insG ENST00000252530.5 + 8 962_963 c.943_944insG c.(943-945)gggfs p.G315fs FAM98C_ENST00000588262.1_Frame_Shift_Ins_p.R181fs|FAM98C_ENST00000343358.7_Frame_Shift_Ins_p.G233fs NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 315 p.R315L(1) endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CGTTCCAGACCGGGGGGGCCGC 0.564 10 192 --- --- --- --- FBL 2091 broad.mit.edu 37 19 40325192 40325193 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:40325192_40325193insG ENST00000221801.3 - 9 1064_1065 c.951_952insC c.(949-954)ccaggtfs p.G318fs FBL_ENST00000593503.1_5'UTR NM_001436.3 NP_001427.2 P22087 FBRL_HUMAN fibrillarin 318 rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) TTCTTCACCTTGGGGGGTGGCC 0.505 15 1016 --- --- --- --- CEACAM5 1048 broad.mit.edu 37 19 42224865 42224866 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:42224865_42224866insC ENST00000221992.6 + 8 1909_1910 c.1795_1796insC c.(1795-1797)cccfs p.P599fs CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 599 Ig-like 7. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCCCATCATTTCCCCCCCAGAC 0.545 10 322 --- --- --- --- MARK4 57787 broad.mit.edu 37 19 45805663 45805664 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:45805663_45805664insC ENST00000300843.4 + 18 2331_2332 c.2034_2035insC c.(2032-2037)ccccccfs p.PP678fs MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 0 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) AACGGAAACCGCCCCCCGGCTG 0.639 7 205 --- --- --- --- TEAD2 8463 broad.mit.edu 37 19 49850472 49850473 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:49850472_49850473insG ENST00000377214.4 - 8 1254_1255 c.892_893insC c.(892-894)tgcfs p.C298fs TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.C167fs|TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.C298fs|TEAD2_ENST00000311227.2_Frame_Shift_Ins_p.C295fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.C299fs|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.C299fs Q15562 TEAD2_HUMAN TEA domain family member 2 295 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.H295fs*12(1) central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GAAGAAGGCATGGGGGGGGCCA 0.564 67 765 --- --- --- --- KLK1 3816 broad.mit.edu 37 19 51326962 51326963 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:51326962_51326963insC ENST00000301420.2 - 1 77_78 c.42_43insG c.(40-45)ggctggfs p.W15fs KLK1_ENST00000448701.2_5'UTR NM_002257.2 NP_002248.1 P06870 KLK1_HUMAN kallikrein 1 15 proteolysis nucleus serine-type endopeptidase activity breast(1)|large_intestine(4)|lung(7)|urinary_tract(1) 13 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCTCACCAGTCCCCCCCAGGG 0.653 10 217 --- --- --- --- ZNF649 65251 broad.mit.edu 37 19 52394013 52394014 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:52394013_52394014insC ENST00000354957.3 - 5 1659_1660 c.1375_1376insG c.(1375-1377)ttcfs p.F459fs ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.F431fs|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CTTCACTGAATCCCCCCGTTTC 0.450 8 1000 --- --- --- --- NLRP5 126206 broad.mit.edu 37 19 56552432 56552433 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:56552432_56552433insC ENST00000390649.3 + 11 2931_2932 c.2931_2932insC c.(2929-2934)ctcccafs p.LP977fs NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 977 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CCATGAGGCTTCCCCACTGTAG 0.535 8 2310 --- --- --- --- ZNF419 79744 broad.mit.edu 37 19 58004916 58004917 + Frame_Shift_Del DEL AT AT - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr19:58004916_58004917delAT ENST00000424930.2 + 5 1223_1224 c.994_995delAT c.(994-996)gfs p.M332fs ZNF419_ENST00000442920.2_Frame_Shift_Del_p.M318fs|ZNF419_ENST00000426954.2_Frame_Shift_Del_p.M319fs|ZNF419_ENST00000347466.6_Frame_Shift_Del_p.M299fs|ZNF419_ENST00000354197.4_Frame_Shift_Del_p.M319fs|ZNF419_ENST00000221735.7_Frame_Shift_Del_p.M331fs|ZNF419_ENST00000415379.2_Frame_Shift_Del_p.M285fs|AC003005.4_ENST00000601674.1_Intron NM_001098491.1|NM_024691.3 NP_001091961.1|NP_078967.3 Q96HQ0 ZN419_HUMAN zinc finger protein 419 331 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) CTCCAGCCTCATGAAACATCAG 0.401 39 119 --- --- --- --- NRSN2 80023 broad.mit.edu 37 20 333922 333923 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr20:333922_333923insC ENST00000382291.3 + 4 498_499 c.258_259insC c.(256-261)gtccccfs p.VP86fs NRSN2_ENST00000382285.2_Frame_Shift_Ins_p.VP86fs|NRSN2_ENST00000492242.1_3'UTR NM_024958.2 NP_079234.1 Q9GZP1 NRSN2_HUMAN neurensin 2 86 integral to membrane|plasma membrane|transport vesicle endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 all_cancers(10;0.0834) GCTATGCAGTGCCCCCCAAGCT 0.644 8 269 --- --- --- --- NSFL1C 55968 broad.mit.edu 37 20 1426464 1426465 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr20:1426464_1426465insG ENST00000216879.4 - 8 1663_1664 c.796_797insC c.(796-798)ggtfs p.G266fs NSFL1C_ENST00000350991.4_Frame_Shift_Ins_p.G268fs|NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000353088.2_Frame_Shift_Ins_p.G235fs|NSFL1C_ENST00000381658.4_Frame_Shift_Ins_p.G155fs|NSFL1C_ENST00000476071.1_Frame_Shift_Ins_p.G268fs NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 266 chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 ACTCAACACCTGGGGGGCAGTG 0.510 10 749 --- --- --- --- PCED1A 64773 broad.mit.edu 37 20 2816203 2816204 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr20:2816203_2816204insC ENST00000360652.2 - 8 1771_1772 c.1269_1270insG c.(1267-1272)ggcctgfs p.L424fs PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.L373fs NM_022760.3 NP_073597.2 PC-esterase domain containing 1A TGCCTGCAGGGCCCCCCCATTC 0.624 8 169 --- --- --- --- FASTKD5 60493 broad.mit.edu 37 20 3128000 3128001 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr20:3128000_3128001insC ENST00000380266.3 - 2 2037_2038 c.1716_1717insG c.(1714-1719)ggcccafs p.GP572fs UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 572 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 ACGTACTGGGGCCCCCCCAGCA 0.436 7 161 --- --- --- --- DNMT3B 1789 broad.mit.edu 37 20 31384650 31384651 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr20:31384650_31384651insG ENST00000328111.2 + 13 1673_1674 c.1352_1353insG c.(1351-1353)gggfs p.G451fs DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.G389fs|DNMT3B_ENST00000375623.4_Stop_Codon_Ins|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.G355fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.G443fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.G431fs|DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.G431fs NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 451 ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity). negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTCTCTTTGAGGGGGGGCTCT 0.559 9 233 --- --- --- --- GGT7 2686 broad.mit.edu 37 20 33447847 33447848 + Splice_Site INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr20:33447847_33447848insG ENST00000336431.5 - 6 788 c.e6-2 NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 CATGGCAGCCTGGGGGGGCCGG 0.653 3 5 --- --- --- --- RALGAPB 57148 broad.mit.edu 37 20 37146232 37146233 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr20:37146232_37146233insC ENST00000262879.6 + 8 1419_1420 c.1135_1136insC c.(1135-1137)cccfs p.P379fs RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 379 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity p.H382fs*2(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TGTCAGTACCACCCCCCCACAT 0.446 11 192 --- --- --- --- RALGAPB 57148 broad.mit.edu 37 20 37203484 37203485 + Frame_Shift_Ins INS - - C rs138886522 by1000genomes TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr20:37203484_37203485insC ENST00000262879.6 + 30 4643_4644 c.4359_4360insC c.(4357-4362)agccccfs p.SP1453fs RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.SP1453fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.SP1450fs|RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.SP1232fs|RALGAPB_ENST00000490114.1_3'UTR Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1453 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 ACTCCTACAGTCCCCCCCATGT 0.431 9 233 --- --- --- --- LPIN3 64900 broad.mit.edu 37 20 39977798 39977799 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr20:39977798_39977799insC ENST00000373257.3 + 5 715_716 c.624_625insC c.(622-627)tgccccfs p.CP208fs NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 208 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) ATGGCGAGTGGCCCCCCCAGGC 0.540 13 306 --- --- --- --- SLPI 6590 broad.mit.edu 37 20 43881730 43881731 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr20:43881730_43881731insG ENST00000338380.2 - 3 326_327 c.306_307insC c.(304-309)ccatttfs p.F103fs NM_003064.2 NP_003055.1 P03973 SLPI_HUMAN secretory leukocyte peptidase inhibitor 103 Elastase inhibitory domain.|WAP 2. extracellular region serine-type endopeptidase inhibitor activity lung(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) TCACAGAAATTGGGGGGGTTAA 0.535 14 142 --- --- --- --- SLC9A8 23315 broad.mit.edu 37 20 48472092 48472092 + Frame_Shift_Del DEL C C - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr20:48472092delC ENST00000417961.1 + 8 945 c.735delC c.(733-735)aafs p.N245fs SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000539601.1_Frame_Shift_Del_p.N10fs|SLC9A8_ENST00000361573.2_Frame_Shift_Del_p.N229fs NM_001260491.1|NM_015266.2 NP_001247420.1|NP_056081.1 Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 229 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) GTATTCTCAACGATGCAGTCT 0.448 8 107 --- --- --- --- IFNAR1 3454 broad.mit.edu 37 21 34725169 34725170 + Frame_Shift_Ins INS - - T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr21:34725169_34725170insT ENST00000270139.3 + 9 1401_1402 c.1249_1250insT c.(1249-1251)aagfs p.K417fs IFNAR1_ENST00000442357.2_Intron|IFNAR1_ENST00000416947.2_Frame_Shift_Ins_p.K348fs NM_000629.2 NP_000620.2 P17181 INAR1_HUMAN interferon (alpha, beta and omega) receptor 1 417 Fibronectin type-III 3. JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2) 14 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) AAAGCTGAATAAAAGCAGTGTT 0.322 17 70 --- --- --- --- IFNGR2 3460 broad.mit.edu 37 21 34799292 34799292 + Frame_Shift_Del DEL T T - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr21:34799292delT ENST00000290219.6 + 4 1162 c.514delT c.(514-516)ttfs p.F173fs IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 173 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) CTCCACGGCCTTTTTTTGTTA 0.458 8 1175 --- --- --- --- KCNJ6 3763 broad.mit.edu 37 21 38997604 38997604 + Frame_Shift_Del DEL C C - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr21:38997604delC ENST00000400482.3 - 4 1718 c.1129delG c.(1129-1131)cafs p.A377fs KCNJ6_ENST00000288309.6_Frame_Shift_Del_p.A377fs NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 377 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) GGCAGCTCTGCCCTGCTGGCT 0.517 15 156 --- --- --- --- DSCAM 1826 broad.mit.edu 37 21 41514614 41514615 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr21:41514614_41514615insG ENST00000400454.1 - 18 3753_3754 c.3276_3277insC c.(3274-3279)ccaaaafs p.PK1092fs NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1092 Fibronectin type-III 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.E1093K(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGACATTTTCGGGGGGGTAAC 0.406 14 597 --- --- --- --- NDUFV3 4731 broad.mit.edu 37 21 44323714 44323715 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr21:44323714_44323715insC ENST00000354250.2 + 3 661_662 c.592_593insC c.(592-594)cccfs p.P198fs NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 29 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) TGAAAACAGAGCCCCCCGAGTT 0.520 9 332 --- --- --- --- TUBA8 51807 broad.mit.edu 37 22 18609265 18609266 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:18609265_18609266insC ENST00000330423.3 + 4 593_594 c.520_521insC c.(520-522)cccfs p.P174fs TUBA8_ENST00000316027.6_Frame_Shift_Ins_p.P108fs NM_018943.2 NP_061816.1 Q9NY65 TBA8_HUMAN tubulin, alpha 8 174 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 CATCTACCCAGCCCCCCAGGTC 0.545 11 660 --- --- --- --- CRYBB1 1414 broad.mit.edu 37 22 26995459 26995460 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:26995459_26995460insG ENST00000215939.2 - 6 883_884 c.753_754insC c.(751-756)ccagtgfs p.V252fs NM_001887.3 NP_001878.1 P53674 CRBB1_HUMAN crystallin, beta B1 252 C-terminal arm. visual perception structural constituent of eye lens breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4) 31 TGGACTCACTTGGGGGGCTCTG 0.554 10 332 --- --- --- --- MTMR3 8897 broad.mit.edu 37 22 30415990 30415991 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:30415990_30415991insC ENST00000333027.3 + 17 2670_2671 c.2342_2343insC c.(2341-2343)gccfs p.A781fs MTMR3_ENST00000351488.3_Frame_Shift_Ins_p.A781fs|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Frame_Shift_Ins_p.A645fs|MTMR3_ENST00000406629.1_Frame_Shift_Ins_p.A781fs|MTMR3_ENST00000401950.2_Frame_Shift_Ins_p.A781fs NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 781 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) TCTCTCCAGGTCCCCCCCAGGG 0.554 8 245 --- --- --- --- TNRC6B 23112 broad.mit.edu 37 22 40708590 40708591 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:40708590_40708591insG ENST00000454349.2 + 18 4728_4729 c.4517_4518insG c.(4516-4518)cggfs p.R1506fs TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.R1396fs|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.R702fs|TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.R702fs NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1506 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 GGAAGTGTGCTGGGGGGTACAG 0.480 7 692 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610947 42610948 + Frame_Shift_Ins INS - - G rs138734341 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:42610947_42610948insG ENST00000359486.3 - 1 500_501 c.364_365insC c.(364-366)gggfs p.G122fs TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 122 Q -> R (in Ref. 1). 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 GCTGCTCCCCTGGGGGGGTCCA 0.564 20 497 --- --- --- --- PARVB 29780 broad.mit.edu 37 22 44547421 44547422 + In_Frame_Ins INS - - TTG TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:44547421_44547422insTTG ENST00000338758.6 + 10 896_897 c.833_834insTTG c.(832-834)cga>cTTGga p.278_278R>LG PARVB_ENST00000404989.1_In_Frame_Ins_p.241_241R>LG|PARVB_ENST00000406477.3_In_Frame_Ins_p.311_311R>LG NM_013327.4 NP_037459.2 Q9HBI1 PARVB_HUMAN parvin, beta 278 CH 2. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) GTGACGGAACTGGAGACCCAGG 0.510 12 450 --- --- --- --- PKDREJ 10343 broad.mit.edu 37 22 46654994 46654994 + Frame_Shift_Del DEL T T - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chr22:46654994delT ENST00000253255.5 - 1 4225 c.4226delA c.(4225-4227)atfs p.N1409fs NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1409 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TCTATTTAGATTAAAGAACAT 0.338 10 206 --- --- --- --- SSX9 280660 broad.mit.edu 37 X 48159107 48159108 + Frame_Shift_Ins INS - - G rs41305745 by1000genomes TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chrX:48159107_48159108insG ENST00000376909.1 - 6 487_488 c.425_426insC c.(424-426)cggfs p.R142fs SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 TTGGTTTTCCCGGGGGGCACAG 0.490 9 216 --- --- --- --- SSX3 10214 broad.mit.edu 37 X 48207024 48207025 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chrX:48207024_48207025insC ENST00000298396.2 - 7 533_534 c.481_482insG c.(481-483)acafs p.T161fs SSX3_ENST00000376895.1_Frame_Shift_Ins_p.T73fs NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|large_intestine(1)|lung(9) 13 CCAGGCATGTTCCCCCCTTTTG 0.480 22 2220 --- --- --- --- ZCCHC12 170261 broad.mit.edu 37 X 117960135 117960136 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chrX:117960135_117960136insC ENST00000310164.2 + 4 1435_1436 c.928_929insC c.(928-930)cccfs p.P310fs NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 GGTCATTGATTCCCCCCACAAT 0.564 11 952 --- --- --- --- PLAC1 10761 broad.mit.edu 37 X 133700524 133700525 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chrX:133700524_133700525insG ENST00000359237.4 - 3 473_474 c.188_189insC c.(187-189)caafs p.Q63fs PLAC1_ENST00000476971.1_5'UTR NM_021796.3 NP_068568.1 Q9HBJ0 PLAC1_HUMAN placenta-specific 1 63 placenta development extracellular region large_intestine(4)|lung(1)|pancreas(1) 6 Acute lymphoblastic leukemia(192;0.000127) GAACATGGTTTGGGGGGCAACC 0.510 8 393 --- --- --- --- GABRQ 55879 broad.mit.edu 37 X 151821590 151821591 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf 36b9ccc1-3562-4b95-92ce-4bc4ea3f3d81 g.chrX:151821590_151821591insC ENST00000370306.2 + 9 1765_1766 c.1745_1746insC c.(1744-1746)tccfs p.S582fs NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 582 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) GAGGATAGTTGCCCCCCAAGCC 0.520 11 752 --- --- --- --- ESPNP 284729 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 4 4 --- --- --- --- AKR7L 246181 broad.mit.edu 37 1 19594921 19594921 + RNA DEL G G - rs138196141 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:19594921delG ENST00000420396.2 - 0 637 AKR7L_ENST00000429712.1_RNA aldo-keto reductase family 7-like breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1) 6 aaaaaaaaaaGACCAGTGGGA 0.413 9 64 --- --- --- --- ELOVL1 64834 broad.mit.edu 37 1 43830227 43830228 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:43830227_43830228insC ENST00000372458.3 - 6 583_584 c.466_467insG c.(466-468)aaafs p.K156fs ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Frame_Shift_Ins_p.K129fs NM_001256399.1|NM_001256402.1|NM_022821.3 NP_001243328.1|NP_001243331.1|NP_073732.1 Q9BW60 ELOV1_HUMAN ELOVL fatty acid elongase 1 156 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|prostate(1) 4 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGCAATCTTTACCCCCCACCAC 0.550 7 314 --- --- --- --- STXBP3 6814 broad.mit.edu 37 1 109325098 109325098 + Frame_Shift_Del DEL C C - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:109325098delC ENST00000370008.3 + 10 914 c.864delC c.(862-864)ctfs p.L288fs NM_007269.2 NP_009200.2 O00186 STXB3_HUMAN syntaxin binding protein 3 288 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1) 13 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) AAGATGACCTCTGGGTTAGAA 0.343 7 377 --- --- --- --- ZNF687 57592 broad.mit.edu 37 1 151258868 151258869 + Frame_Shift_Ins INS - - TGGG TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:151258868_151258869insTGGG ENST00000368879.2 + 2 199_200 c.101_102insTGGG c.(100-102)agafs p.R34fs NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 34 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCAGAAGAAAATGAGGGGCCTG 0.550 26 371 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152279150 152279151 + Frame_Shift_Ins INS - - AGATCCTG TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:152279150_152279151insAGATCCTG ENST00000368799.1 - 3 8246_8247 c.8211_8212insCAGGATCT c.(8209-8214)tctcctfs p.P2738fs FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2738 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGTAGAGGAAAGATCCTGAAT 0.594 Ichthyosis 7 131 --- --- --- --- FLG 2312 broad.mit.edu 37 1 152283386 152283398 + Frame_Shift_Del DEL AGCTGTCTGCAGA AGCTGTCTGCAGA - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:152283386_152283398delAGCTGTCTGCAGA ENST00000368799.1 - 3 3999_4011 c.3964_3976delTCTGCAGACAGCT c.(3964-3978)ccfs p.SADSS1322fs FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1322 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.A1323E(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATTGTCTGGAGCTGTCTGCAGAGTGCCCGTGA 0.526 Ichthyosis 7 274 --- --- --- --- FLG2 388698 broad.mit.edu 37 1 152324471 152324472 + In_Frame_Ins INS - - AGTGGTATCTCT TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:152324471_152324472insAGTGGTATCTCT ENST00000388718.5 - 3 5862_5863 c.5790_5791insAGAGATACCACT c.(5788-5793)acaaca>acAGAGATACCACTaaca p.1930_1931TT>TEIPLT FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1930 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGGCCATGTTCAGTGGTATCTC 0.520 22 653 --- --- --- --- S100A12 6283 broad.mit.edu 37 1 153346338 153346338 + Frame_Shift_Del DEL G G - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:153346338delG ENST00000368737.3 - 3 361 c.244delC c.(244-246)tgfs p.L82fs NM_005621.1 NP_005612.1 P80511 S10AC_HUMAN S100 calcium binding protein A12 82 EF-hand 2. defense response to bacterium|defense response to fungus|inflammatory response|innate immune response|killing of cells of other organism|positive regulation of I-kappaB kinase/NF-kappaB cascade|xenobiotic metabolic process cytosol|extracellular region|insoluble fraction|nucleus calcium ion binding|RAGE receptor binding|zinc ion binding endometrium(1)|kidney(1)|skin(2) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) Amlexanox(DB01025) GCAGCCTTCAGCGCAATGGCT 0.448 8 464 --- --- --- --- TPM3 7170 broad.mit.edu 37 1 154163682 154163682 + Frame_Shift_Del DEL C C - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:154163682delC ENST00000368530.2 - 2 415 c.223delG c.(223-225)cafs p.A75fs TPM3_ENST00000271850.7_Frame_Shift_Del_p.A75fs NM_152263.2 NP_689476.2 P06753 TPM3_HUMAN tropomyosin 3 74 cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) TTCTTCTCTGCCAGTTCCAGC 0.448 T """NTRK1, ALK, ROS1""" """papillary thyroid, ALCL, NSCLC""" 55 731 --- --- --- --- ASTN1 460 broad.mit.edu 37 1 177133693 177133694 + In_Frame_Ins INS - - GTA TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:177133693_177133694insGTA ENST00000367654.2 - 1 132_133 c.119_120insTAC c.(118-120)aac>aTACac p.40_40N>IH ASTN1_ENST00000424564.2_In_Frame_Ins_p.40_40N>IH|ASTN1_ENST00000367657.3_In_Frame_Ins_p.40_40N>IH|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_In_Frame_Ins_p.40_40N>IH O14525 ASTN1_HUMAN astrotactin 1 40 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CCGACACCGTGATGCTTTTGAG 0.678 7 61 --- --- --- --- LAD1 3898 broad.mit.edu 37 1 201352461 201352464 + Frame_Shift_Del DEL TATC TATC - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:201352461_201352464delTATC ENST00000391967.2 - 6 1530_1533 c.1229_1232delGATA c.(1228-1233)acfs p.RY410fs LAD1_ENST00000367313.3_Frame_Shift_Del_p.RY424fs|LAD1_ENST00000488842.1_5'UTR NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 410 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 GGCCGTGTGGTATCTCTCCAGCTT 0.608 10 405 --- --- --- --- TATDN3 128387 broad.mit.edu 37 1 212988385 212988386 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:212988385_212988386insC ENST00000366974.4 + 10 806_807 c.712_713insC c.(712-714)agcfs p.S238fs TATDN3_ENST00000366973.4_Frame_Shift_Ins_p.S237fs|TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000526997.1_3'UTR|TATDN3_ENST00000531963.1_Intron|TATDN3_ENST00000532324.1_Frame_Shift_Ins_p.S245fs|TATDN3_ENST00000526641.1_Frame_Shift_Ins_p.S217fs NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1 NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1 Q17R31 TATD3_HUMAN TatD DNase domain containing 3 238 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding endometrium(1)|large_intestine(2)|lung(6) 9 OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104) CATTTCTATTTCAGCAGAATAT 0.431 24 213 --- --- --- --- LYST 1130 broad.mit.edu 37 1 235969934 235969934 + Frame_Shift_Del DEL G G - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr1:235969934delG ENST00000389794.3 - 6 2676 c.2502delC c.(2500-2502)gcfs p.A834fs LYST_ENST00000536965.1_Frame_Shift_Del_p.A834fs|LYST_ENST00000389793.2_Frame_Shift_Del_p.A834fs Q99698 LYST_HUMAN lysosomal trafficking regulator 834 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CTGGAACTGAGGCATCTTTCT 0.378 22 447 --- --- --- --- EPAS1 2034 broad.mit.edu 37 2 46611714 46611714 + Frame_Shift_Del DEL A A - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:46611714delA ENST00000263734.3 + 16 3038 c.2528delA c.(2527-2529)gcfs p.D843fs NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 843 CTAD. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) ACCAGATATGACTGTGAGGTG 0.602 63 213 --- --- --- --- COMMD1 150684 broad.mit.edu 37 2 62373417 62373418 + RNA INS - - A rs76799739 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:62373417_62373418insA ENST00000425966.2 - 0 251 AC018462.2_ENST00000421323.1_RNA ctctacttattaaaaaaaaAAA 0.347 2 4 --- --- --- --- LONRF2 164832 broad.mit.edu 37 2 100903470 100903472 + In_Frame_Del DEL TGT TGT - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:100903470_100903472delTGT ENST00000393437.3 - 11 2613_2615 c.1974_1976delACA c.(1972-1977)cag>ca p.QQ658del LONRF2_ENST00000409647.1_In_Frame_Del_p.QQ415del NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 658 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 GGAAACAGACTGTTGATGCACAG 0.488 21 421 --- --- --- --- GPR155 151556 broad.mit.edu 37 2 175333792 175333793 + Frame_Shift_Del DEL TT TT - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:175333792_175333793delTT ENST00000392552.2 - 5 1267_1268 c.1029_1030delAA c.(1027-1032)atccfs p.IT343fs GPR155_ENST00000392551.2_Frame_Shift_Del_p.IT343fs|GPR155_ENST00000295500.4_Frame_Shift_Del_p.IT343fs NM_001267051.1|NM_152529.6 NP_001253980.1|NP_689742.4 Q7Z3F1 GP155_HUMAN G protein-coupled receptor 155 343 intracellular signal transduction|transmembrane transport integral to membrane breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 26 ATCCCTGAGGTTATCTGCAAAA 0.376 70 215 --- --- --- --- THAP4 51078 broad.mit.edu 37 2 242573106 242573106 + Frame_Shift_Del DEL T T - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr2:242573106delT ENST00000407315.1 - 2 897 c.466delA c.(466-468)ggfs p.R156fs NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 156 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) TGGGCCGCCCTGGGTGTGGCT 0.642 12 47 --- --- --- --- TCAIM 285343 broad.mit.edu 37 3 44434435 44434436 + Frame_Shift_Ins INS - - T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr3:44434435_44434436insT ENST00000342649.4 + 6 1088_1089 c.661_662insT c.(661-663)actfs p.T221fs TCAIM_ENST00000417237.1_Frame_Shift_Ins_p.T221fs NM_173826.3 NP_776187.2 T cell activation inhibitor, mitochondrial TTTAAAAGATGAACTGTCTCAT 0.327 31 202 --- --- --- --- PBRM1 55193 broad.mit.edu 37 3 52696164 52696164 + Frame_Shift_Del DEL G G - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr3:52696164delG ENST00000356770.4 - 4 515 c.513delC c.(511-513)ggfs p.G171fs PBRM1_ENST00000409114.3_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.G171fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.G171fs Q86U86 PB1_HUMAN polybromo 1 171 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CAGTCACTGTGCCCTGATTGT 0.488 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 159 800 --- --- --- --- ALDH1L1 10840 broad.mit.edu 37 3 125825989 125825992 + Frame_Shift_Del DEL AGCA AGCA - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr3:125825989_125825992delAGCA ENST00000393434.2 - 21 2794_2797 c.2445_2448delTGCT c.(2443-2448)ttfs p.FA815fs ALDH1L1_ENST00000452905.2_Frame_Shift_Del_p.FA714fs|ALDH1L1_ENST00000472186.1_Frame_Shift_Del_p.FA815fs|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000273450.3_Frame_Shift_Del_p.FA825fs NM_012190.3 NP_036322.2 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 815 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 52 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) CCTACCCATCAGCAAACCGAGAGA 0.534 15 228 --- --- --- --- NDNF 79625 broad.mit.edu 37 4 121957791 121957792 + Frame_Shift_Ins INS - - T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr4:121957791_121957792insT ENST00000379692.4 - 4 1860_1861 c.1334_1335insA c.(1333-1335)ctcfs p.L445fs NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 445 Fibronectin type-III 2. breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 CAGGAAGAGAGGGAAATGACTG 0.446 16 390 --- --- --- --- DCLK2 166614 broad.mit.edu 37 4 151177263 151177264 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr4:151177263_151177264insA ENST00000296550.7 + 16 2919_2920 c.2165_2166insA c.(2164-2166)cccfs p.P722fs DCLK2_ENST00000302176.8_Frame_Shift_Ins_p.P739fs|DCLK2_ENST00000506325.1_Frame_Shift_Ins_p.P721fs NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 722 Pro-rich. 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) TCTCCAGTTCCTCCCTCAGTGG 0.649 11 70 --- --- --- --- DDX60 55601 broad.mit.edu 37 4 169201620 169201621 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr4:169201620_169201621insA ENST00000393743.3 - 14 2134_2135 c.1843_1844insT c.(1843-1845)tttfs p.F615fs NM_017631.5 NP_060101.3 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 615 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) AGAGTGTAAATTTTCTTTCAAT 0.366 8 198 --- --- --- --- ERAP1 51752 broad.mit.edu 37 5 96136598 96136598 + Frame_Shift_Del DEL C C - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr5:96136598delC ENST00000296754.3 - 3 887 c.630delG c.(628-630)gafs p.E210fs ERAP1_ENST00000443439.2_Frame_Shift_Del_p.E210fs NM_016442.3 NP_057526.3 Q9NZ08 ERAP1_HUMAN endoplasmic reticulum aminopeptidase 1 210 angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2) 19 all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244) all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071) GGTGCCTTGGCTCTCTTCTAA 0.438 18 320 --- --- --- --- DDR1 780 broad.mit.edu 37 6 30863250 30863251 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr6:30863250_30863251insC ENST00000324771.8 + 14 2131_2132 c.1583_1584insC c.(1582-1584)gccfs p.A528fs DDR1_ENST00000376567.2_Intron|DDR1_ENST00000376575.3_Frame_Shift_Ins_p.A528fs|DDR1_ENST00000361741.4_Frame_Shift_Ins_p.P232fs|DDR1_ENST00000376568.3_Frame_Shift_Ins_p.A528fs|DDR1_ENST00000454612.2_Intron|DDR1_ENST00000376570.4_Intron|DDR1_ENST00000513240.1_Frame_Shift_Ins_p.A528fs|DDR1_ENST00000418800.2_Intron|DDR1_ENST00000376569.3_Intron|DDR1_ENST00000452441.1_Frame_Shift_Ins_p.A528fs|DDR1_ENST00000508312.1_Intron|DDR1_ENST00000446312.1_Intron Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 528 Gly/Pro-rich. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) CGAGGCCCGGGCCCCCCCACAC 0.683 12 77 --- --- --- --- TNXB 7148 broad.mit.edu 37 6 32029262 32029263 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr6:32029262_32029263insC ENST00000375244.3 - 21 7604_7605 c.7403_7404insG c.(7402-7404)gctfs p.A2468fs TNXB_ENST00000375247.2_Frame_Shift_Ins_p.A2468fs P22105 TENX_HUMAN tenascin XB 2528 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CAGGCTCCAGGCCCCCCACGGT 0.683 9 483 --- --- --- --- RING1 6015 broad.mit.edu 37 6 33179568 33179568 + Frame_Shift_Del DEL T T - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr6:33179568delT ENST00000374656.4 + 6 1116 c.908delT c.(907-909)atfs p.I303fs RING1_ENST00000478431.1_3'UTR NM_002931.3 NP_002922.2 Q06587 RING1_HUMAN ring finger protein 1 303 Necessary for interaction with CBX2 (By similarity). histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear speck|PcG protein complex protein binding|zinc ion binding endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4) 17 GCCCTGCGCATTGCCCTCGAG 0.642 49 290 --- --- --- --- FOXP4 116113 broad.mit.edu 37 6 41564917 41564921 + Frame_Shift_Del DEL CCCCA CCCCA - rs6911720 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr6:41564917_41564921delCCCCA ENST00000373060.1 + 15 2120_2124 c.1662_1666delCCCCA c.(1660-1668)agccfs p.SPT554fs FOXP4_ENST00000373057.3_Frame_Shift_Del_p.SPT552fs|FOXP4_ENST00000409208.1_Frame_Shift_Del_p.SPT542fs|FOXP4_ENST00000373063.3_Frame_Shift_Del_p.SPT541fs|FOXP4_ENST00000307972.4_Frame_Shift_Del_p.SPT554fs NM_001012426.1|NM_001012427.1 NP_001012426.1|NP_001012427.1 Q8IVH2 FOXP4_HUMAN forkhead box P4 554 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) CCTCCAGGAGCCCCACCCTGGTGAA 0.546 10 178 --- --- --- --- HIVEP2 3097 broad.mit.edu 37 6 143074371 143074371 + Frame_Shift_Del DEL G G - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr6:143074371delG ENST00000367603.2 - 10 7956 c.7214delC c.(7213-7215)gtfs p.A2405fs HIVEP2_ENST00000367604.1_Frame_Shift_Del_p.A2405fs|HIVEP2_ENST00000012134.2_Frame_Shift_Del_p.A2405fs|RP1-67K17.3_ENST00000437067.1_RNA NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 2405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CGTGGAGTGAGCTAATGGAGT 0.468 8 598 --- --- --- --- OPRM1 4988 broad.mit.edu 37 6 154412190 154412191 + Frame_Shift_Ins INS - - CT TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr6:154412190_154412191insCT ENST00000414028.2 + 3 797_798 c.747_748insCT c.(745-750)atttacfs p.Y250fs OPRM1_ENST00000522236.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000522555.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000435918.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000419506.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000434900.2_Frame_Shift_Ins_p.Y343fs|OPRM1_ENST00000524163.1_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000428397.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000337049.4_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000452687.2_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000330432.7_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000360422.4_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000229768.5_Frame_Shift_Ins_p.Y250fs|OPRM1_ENST00000520708.1_Frame_Shift_Ins_p.Y150fs|OPRM1_ENST00000518759.1_Frame_Shift_Ins_p.Y169fs NM_001145284.2 NP_001138756.1 P35372 OPRM_HUMAN opioid receptor, mu 1 250 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) CAGTGCTCATCATTACCGTGTG 0.465 15 185 --- --- --- --- TCP1 6950 broad.mit.edu 37 6 160200765 160200766 + Frame_Shift_Del DEL TG TG - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr6:160200765_160200766delTG ENST00000321394.7 - 11 1627_1628 c.1347_1348delCA c.(1345-1350)ccatfs p.PN449fs TCP1_ENST00000392168.2_Frame_Shift_Del_p.PN294fs|TCP1_ENST00000420894.2_Intron|TCP1_ENST00000544255.1_Frame_Shift_Del_p.PN225fs NM_030752.2 NP_110379.2 P17987 TCPA_HUMAN t-complex 1 449 'de novo' posttranslational protein folding|tubulin complex assembly cell junction|Golgi apparatus ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(2) 10 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) GCTAGTGTATTGGGAATAACAA 0.416 7 245 --- --- --- --- GLCCI1 113263 broad.mit.edu 37 7 8125865 8125866 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr7:8125865_8125866insA ENST00000223145.5 + 8 1898_1899 c.1341_1342insA c.(1339-1344)gaaaaafs p.EK447fs NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 447 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) CATGTCCTGACAAAAACAAGGT 0.411 9 1330 --- --- --- --- TRGJP 6970 broad.mit.edu 37 7 38313226 38313227 + RNA INS - - T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr7:38313226_38313227insT ENST00000390338.2 - 0 21_22 AAATACCTTGATTTTTTTGCCC 0.391 7 471 --- --- --- --- AASS 10157 broad.mit.edu 37 7 121719765 121719766 + Splice_Site INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr7:121719765_121719766insG ENST00000393376.1 - 20 2376_2377 c.2280_splice c.e20-1 p.T761_splice AASS_ENST00000417368.2_Splice_Site_p.T761_splice|AASS_ENST00000473553.1_5'UTR Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 761 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) GAGGAGTTGTTTCTGGTTAGAA 0.356 10 52 --- --- --- --- XKR6 286046 broad.mit.edu 37 8 11058233 11058234 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr8:11058233_11058234insG ENST00000416569.2 - 1 641_642 c.615_616insC c.(613-618)cctgatfs p.D206fs XKR6_ENST00000297303.4_Frame_Shift_Ins_p.D206fs NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 206 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GCCCCCATCATGGGGGGGCCCC 0.762 2 4 --- --- --- --- CCNE2 9134 broad.mit.edu 37 8 95906294 95906295 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr8:95906294_95906295insG ENST00000520509.1 - 3 319_320 c.67_68insC c.(67-69)agafs p.R23fs CCNE2_ENST00000396133.3_Frame_Shift_Ins_p.R23fs|CCNE2_ENST00000308108.4_Frame_Shift_Ins_p.R23fs O96020 CCNE2_HUMAN cyclin E2 23 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) CTGGGCTTCTTGGGGGGATTCC 0.455 8 373 --- --- --- --- DOCK8 81704 broad.mit.edu 37 9 418149 418150 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr9:418149_418150insG ENST00000432829.2 + 30 3894_3895 c.3578_3579insG c.(3577-3579)cgcfs p.R1193fs DOCK8_ENST00000453981.1_Frame_Shift_Ins_p.R1261fs|DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.R1161fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.R728fs NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1261 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) AATGTGGCTCTGGCCATAGCAG 0.441 62 234 --- --- --- --- NFIB 4781 broad.mit.edu 37 9 14307384 14307385 + Frame_Shift_Del DEL CT CT - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr9:14307384_14307385delCT ENST00000380959.3 - 2 638_639 c.165_166delAG c.(163-168)agcafs p.RA55fs NFIB_ENST00000397581.2_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380953.1_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000397579.2_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380921.3_Frame_Shift_Del_p.RA55fs|NFIB_ENST00000380934.4_Frame_Shift_Del_p.RA81fs|NFIB_ENST00000397575.3_Frame_Shift_Del_p.RA55fs NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 55 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) TCTTTGACTGCTCTTTCTTCAT 0.455 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 12 119 --- --- --- --- RGP1 9827 broad.mit.edu 37 9 35750946 35750947 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr9:35750946_35750947insA ENST00000378078.4 + 5 588_589 c.447_448insA c.(445-450)atctttfs p.F150fs RGP1_ENST00000456972.2_Frame_Shift_Ins_p.F190fs NM_001080496.2 NP_001073965.2 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog (S. cerevisiae) 150 cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ACTCCCCTATCACTTTACTCAG 0.550 19 106 --- --- --- --- GNE 10020 broad.mit.edu 37 9 36219966 36219970 + Frame_Shift_Del DEL AAGGA AAGGA - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr9:36219966_36219970delAAGGA ENST00000396594.3 - 10 1885_1889 c.1774_1778delTCCTT c.(1774-1779)cfs p.SF592fs GNE_ENST00000539208.1_Frame_Shift_Del_p.SF451fs|GNE_ENST00000447283.2_Frame_Shift_Del_p.SF487fs|GNE_ENST00000377902.5_Frame_Shift_Del_p.SF561fs|GNE_ENST00000543356.2_Frame_Shift_Del_p.SF556fs|GNE_ENST00000539815.1_Frame_Shift_Del_p.SF561fs NM_001128227.2 NP_001121699.1 Q9Y223 GLCNE_HUMAN glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 561 N-acetylmannosamine kinase. cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 STAD - Stomach adenocarcinoma(86;0.228) TGCAGCACAGAAGGAGCTTCCGTGG 0.502 14 109 --- --- --- --- NTRK2 4915 broad.mit.edu 37 9 87339241 87339241 + Frame_Shift_Del DEL G G - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr9:87339241delG ENST00000304053.6 + 8 1306 c.823delG c.(823-825)atfs p.D275fs NTRK2_ENST00000376213.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000359847.3_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376214.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000323115.4_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000376208.1_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000395866.2_Frame_Shift_Del_p.D119fs|NTRK2_ENST00000277120.3_Frame_Shift_Del_p.D275fs|NTRK2_ENST00000395882.1_Frame_Shift_Del_p.D275fs NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 275 Ig-like C2-type 1. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 TGTAGGAGAAGATCAAGATTC 0.438 TSP Lung(25;0.17) 26 972 --- --- --- --- ZCCHC6 79670 broad.mit.edu 37 9 88938010 88938010 + Frame_Shift_Del DEL C C - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr9:88938010delC ENST00000277141.6 - 14 2946 c.522delG c.(520-522)ggfs p.G174fs ZCCHC6_ENST00000375961.2_Frame_Shift_Del_p.G885fs|ZCCHC6_ENST00000375963.3_Frame_Shift_Del_p.G885fs|ZCCHC6_ENST00000375960.2_Frame_Shift_Del_p.G762fs Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 885 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 CATCCCCTGACCCAGTGTAGG 0.458 9 948 --- --- --- --- ZNF189 7743 broad.mit.edu 37 9 104170501 104170502 + In_Frame_Ins INS - - GGA TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr9:104170501_104170502insGGA ENST00000374861.3 + 3 693_694 c.409_410insGGA c.(409-411)aga>GGAaga p.136_137insG ZNF189_ENST00000259395.4_In_Frame_Ins_p.108_109insG|ZNF189_ENST00000339664.2_In_Frame_Ins_p.150_151insG NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 150 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) CCATAAATGTGAAGAATGTGGA 0.401 32 218 --- --- --- --- DFNB31 25861 broad.mit.edu 37 9 117186710 117186711 + Frame_Shift_Ins INS - - GT TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr9:117186710_117186711insGT ENST00000362057.3 - 6 1487_1488 c.1319_1320insAC c.(1318-1320)gacfs p.D440fs DFNB31_ENST00000374059.3_Frame_Shift_Ins_p.D89fs|DFNB31_ENST00000265134.6_Frame_Shift_Ins_p.D57fs NM_001173425.1|NM_015404.3 NP_001166896.1|NP_056219.3 Q9P202 WHRN_HUMAN deafness, autosomal recessive 31 440 A -> T (in dbSNP:rs4978584). inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGGCCATGGTGGCGTGTTCCTG 0.644 8 116 --- --- --- --- GATA3 2625 broad.mit.edu 37 10 8100451 8100452 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr10:8100451_8100452insG ENST00000379328.3 + 3 993_994 c.425_426insG c.(424-426)tggfs p.W142fs GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Frame_Shift_Ins_p.W142fs NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 142 Poly-Ser. aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding p.G144fs*51(1) NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 TCCTCCTTGTCGGGGGGCCACG 0.728 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 7 123 --- --- --- --- MTPAP 55149 broad.mit.edu 37 10 30653898 30653902 + Frame_Shift_Del DEL TCTCC TCTCC - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr10:30653898_30653902delTCTCC ENST00000358107.4 - 2 279_283 c.280_284delGGAGA c.(280-285)tfs p.GD94fs MTPAP_ENST00000488290.1_5'UTR Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase 0 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 CCCATCTTCATCTCCTCTTTGTCCT 0.639 8 17 --- --- --- --- NRP1 8829 broad.mit.edu 37 10 33502391 33502391 + Frame_Shift_Del DEL T T - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr10:33502391delT ENST00000265371.4 - 10 2062 c.1537delA c.(1537-1539)ggfs p.R513fs NRP1_ENST00000374867.2_Frame_Shift_Del_p.R513fs|NRP1_ENST00000466932.1_5'UTR|NRP1_ENST00000374823.5_Frame_Shift_Del_p.R513fs|NRP1_ENST00000395995.1_Frame_Shift_Del_p.R513fs|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374816.3_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374821.5_Frame_Shift_Del_p.R513fs|NRP1_ENST00000374822.4_Frame_Shift_Del_p.R513fs O14786 NRP1_HUMAN neuropilin 1 513 F5/8 type C 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) TTGAACTTCCTCATGAACACC 0.537 12 1019 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19955425 19955426 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr11:19955425_19955426insG ENST00000396085.1 + 7 1996_1997 c.1635_1636insG c.(1633-1638)aaggggfs p.KG545fs NAV2_ENST00000349880.4_Frame_Shift_Ins_p.KG545fs|NAV2_ENST00000527559.2_Frame_Shift_Ins_p.KG497fs|NAV2_ENST00000360655.4_Frame_Shift_Ins_p.KG481fs|NAV2_ENST00000396087.3_Frame_Shift_Ins_p.KG568fs|NAV2_ENST00000540292.1_Frame_Shift_Ins_p.KG499fs NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 568 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCATCCCCAAAGGGGGGAAGCT 0.554 9 748 --- --- --- --- HEPHL1 341208 broad.mit.edu 37 11 93839155 93839158 + Splice_Site DEL AGCC AGCC - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr11:93839155_93839158delAGCC ENST00000315765.9 + 17 2913_2915 c.2905_splice c.e17-1 p.969_splice NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 969 Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CACCTTTTAAAGCCATTAATGGAA 0.333 20 81 --- --- --- --- KRT1 3848 broad.mit.edu 37 12 53069236 53069256 + In_Frame_Del DEL TAGCTGCTACCTCCGGAGCCA TAGCTGCTACCTCCGGAGCCA - rs66529359 by1000genomes TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA ENST00000252244.3 - 9 1714_1734 c.1656_1676delTGGCTCCGGAGGTAGCAGCTA c.(1654-1677)tac>ta p.YGSGGSSY552del NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 552 Gly/Ser-rich.|Tail. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding p.S557_G563delSSYGSGG(3) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 tccggagccgtagctgctacctccggagccatagctgccac 0.688 4 6 --- --- --- --- KRT78 196374 broad.mit.edu 37 12 53233701 53233702 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:53233701_53233702insC ENST00000359499.4 - 7 795_796 c.784_785insG c.(784-786)ggcfs p.G262fs KRT78_ENST00000304620.4_Frame_Shift_Ins_p.G372fs Q8N1N4 K2C78_HUMAN keratin 78 372 Linker 12.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CACCTTGGCCTGAGCGTCCTTG 0.634 20 189 --- --- --- --- ANKS1B 56899 broad.mit.edu 37 12 99640442 99640444 + In_Frame_Del DEL TTG TTG - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:99640442_99640444delTTG ENST00000547776.2 - 13 1954_1956 c.1955_1957delCAA c.(1954-1959)cta>c p.PI652del ANKS1B_ENST00000547010.1_In_Frame_Del_p.PI232del|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_In_Frame_Del_p.PI652del NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 652 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) TTATTTTCTATTGGAGACTGCTT 0.360 54 128 --- --- --- --- STAB2 55576 broad.mit.edu 37 12 104049316 104049317 + Frame_Shift_Ins INS - - AG TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:104049316_104049317insAG ENST00000388887.2 + 15 1895_1896 c.1691_1692insAG c.(1690-1692)aaafs p.K564fs RP11-341G23.2_ENST00000551905.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 564 FAS1 2. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GAAGCATTGAATAACATGAAGG 0.455 7 329 --- --- --- --- MVK 4598 broad.mit.edu 37 12 110029061 110029062 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:110029061_110029062insC ENST00000228510.3 + 9 860_861 c.784_785insC c.(784-786)cccfs p.P262fs MVK_ENST00000539575.1_Frame_Shift_Ins_p.P210fs|MVK_ENST00000541384.1_Frame_Shift_Ins_p.P68fs|MVK_ENST00000392727.3_Frame_Shift_Ins_p.P210fs|MVK_ENST00000539696.1_5'UTR NM_000431.2|NM_001114185.1 NP_000422.1|NP_001107657.1 Q03426 KIME_HUMAN mevalonate kinase 262 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|peroxisome ATP binding|identical protein binding|mevalonate kinase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 AGAGATCGTGGCCCCCCTCCTG 0.634 8 423 --- --- --- --- OAS3 4940 broad.mit.edu 37 12 113405382 113405383 + Frame_Shift_Del DEL AG AG - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr12:113405382_113405383delAG ENST00000228928.7 + 13 3028_3029 c.2849_2850delAG c.(2848-2850)afs p.K950fs RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 950 OAS domain 3. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 CGGCTGGTGAAGCACTGGTACC 0.584 23 61 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45149854 45149855 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr13:45149854_45149855insG ENST00000458659.2 - 1 846_847 c.356_357insC c.(355-357)gcafs p.A119fs TSC22D1_ENST00000501704.2_Frame_Shift_Ins_p.A119fs NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 119 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) CGGAGATCTGAGCAGGAGTAAC 0.490 7 104 --- --- --- --- ITM2B 9445 broad.mit.edu 37 13 48835348 48835348 + Frame_Shift_Del DEL A A - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr13:48835348delA ENST00000378565.5 + 6 992 c.789delA c.(787-789)ttfs p.L263fs ITM2B_ENST00000378549.5_Frame_Shift_Del_p.L157fs NM_021999.4 NP_068839.1 Q9Y287 ITM2B_HUMAN integral membrane protein 2B 263 nervous system development Golgi membrane|integral to membrane|nucleus|plasma membrane beta-amyloid binding endometrium(1)|large_intestine(2)|lung(3) 6 all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;1.97e-06) TGGAAACTTTAATTTGTTCTT 0.333 11 94 --- --- --- --- MYCBP2 23077 broad.mit.edu 37 13 77672710 77672711 + Frame_Shift_Ins INS - - CAAT TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr13:77672710_77672711insCAAT ENST00000407578.2 - 56 8844_8845 c.8578_8579insATTG c.(8578-8580)aaafs p.K2860fs MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.K2822fs|MYCBP2_ENST00000360084.5_Frame_Shift_Ins_p.K345fs|MYCBP2_ENST00000544440.2_Frame_Shift_Ins_p.K2822fs NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2822 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ATCAAGCTTTGTCTTAACAGGA 0.470 126 409 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518337 108518338 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr13:108518337_108518338insC ENST00000375915.2 - 1 745_746 c.607_608insG c.(607-609)cggfs p.R203fs NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 203 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CTCCTGCCCGTCCCCCCCGGCC 0.609 7 92 --- --- --- --- TPPP2 122664 broad.mit.edu 37 14 21499213 21499214 + In_Frame_Ins INS - - AAT TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr14:21499213_21499214insAAT ENST00000321760.6 + 3 364_365 c.216_217insAAT c.(214-219)gacagt>gaAATcagt p.72_72D>EI NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_In_Frame_Ins_p.72_72D>EI|TPPP2_ENST00000460647.2_In_Frame_Ins_p.72_72D>EI NM_173846.4 NP_776245.2 P59282 TPPP2_HUMAN tubulin polymerization-promoting protein family member 2 72 cytoplasm endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) AGTTCAAAGAGGCAGTGAAGGA 0.500 10 471 --- --- --- --- TMX1 81542 broad.mit.edu 37 14 51716243 51716244 + Frame_Shift_Ins INS - - T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr14:51716243_51716244insT ENST00000457354.2 + 6 672_673 c.547_548insT c.(547-549)tttfs p.F183fs NM_030755.4 NP_110382.3 Q9H3N1 TMX1_HUMAN thioredoxin-related transmembrane protein 1 183 anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction endoplasmic reticulum membrane|integral to membrane|membrane fraction arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity endometrium(2)|large_intestine(2)|urinary_tract(1) 5 ATCATATACTGTTTTTGCTTTA 0.307 7 790 --- --- --- --- ATXN3 4287 broad.mit.edu 37 14 92563097 92563098 + Frame_Shift_Del DEL GC GC - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr14:92563097_92563098delGC ENST00000545170.1 - 2 177_178 c.109_110delGC c.(109-111)afs p.A37fs ATXN3_ENST00000340660.6_Intron|ATXN3_ENST00000429774.2_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000393287.5_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000503767.1_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000532032.1_Frame_Shift_Del_p.A37fs|ATXN3_ENST00000554491.1_5'UTR NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5 NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2 P54252 ATX3_HUMAN ataxin 3 37 Josephin. cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 12 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) CAGCTGATGTGCAATTGAGGAT 0.396 29 243 --- --- --- --- MAGEL2 54551 broad.mit.edu 37 15 23889765 23889766 + Frame_Shift_Ins INS - - CTCA TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr15:23889765_23889766insCTCA ENST00000532292.1 - 1 1409_1410 c.1315_1316insTGAG c.(1315-1317)gcgfs p.A439fs NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CTCCGAGCGCTGGACAGGCACC 0.500 19 34 --- --- --- --- RP11-266O8.1 0 broad.mit.edu 37 15 93974510 93974510 + RNA DEL C C - rs57286078 TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr15:93974510delC ENST00000543286.1 + 0 545 TGGCTGGGTTCtttttttttt 0.433 9 34 --- --- --- --- HP 3240 broad.mit.edu 37 16 72093094 72093095 + Frame_Shift_Ins INS - - CTGAGCA TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr16:72093094_72093095insCTGAGCA ENST00000569639.1 + 4 302_303 c.272_273insCTGAGCA c.(271-273)ttgfs p.L91fs HP_ENST00000398131.2_Intron|HP_ENST00000355906.5_Intron|HP_ENST00000565574.1_Intron|HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_Intron|HP_ENST00000570083.1_Intron P00738 HPT_HUMAN haptoglobin 92 Sushi 2. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) GCAGGTGGGTGCTGAGCACTTA 0.520 9 246 --- --- --- --- RFWD3 55159 broad.mit.edu 37 16 74660329 74660329 + Frame_Shift_Del DEL A A - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr16:74660329delA ENST00000361070.4 - 12 2190 c.2093delT c.(2092-2094)cafs p.L699fs RFWD3_ENST00000571750.1_Frame_Shift_Del_p.L699fs NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 699 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 TTTGGTCAATAGTTTGCAAGT 0.468 30 677 --- --- --- --- CHMP1A 5119 broad.mit.edu 37 16 89712364 89712365 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr16:89712364_89712365insG ENST00000253475.5 - 6 812_813 c.680_681insC c.(679-681)ggcfs p.G227fs CHMP1A_ENST00000535997.2_3'UTR|CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000397901.3_3'UTR NM_001083314.2 NP_001076783.1 Q9HD42 CHM1A_HUMAN charged multivesicular body protein 1A 0 cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix metallopeptidase activity|protein domain specific binding|zinc ion binding endometrium(1)|large_intestine(1)|ovary(1) 3 all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.048) GCAGAGTGGCTGCCGGCCGCAG 0.649 3 6 --- --- --- --- STAT3 6774 broad.mit.edu 37 17 40468878 40468879 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr17:40468878_40468879insG ENST00000264657.5 - 23 2497_2498 c.2185_2186insC c.(2185-2187)cacfs p.H729fs STAT3_ENST00000389272.3_Frame_Shift_Ins_p.H631fs|STAT3_ENST00000404395.3_Frame_Shift_Ins_p.H728fs|STAT3_ENST00000588969.1_Frame_Shift_Ins_p.H729fs|STAT3_ENST00000585517.1_Intron NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 729 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) ATCTAAAGTGCGGGGGGACATC 0.510 Hyperimmunoglobulin E Recurrent Infection Syndrome 8 813 --- --- --- --- DLX4 1748 broad.mit.edu 37 17 48051124 48051125 + Frame_Shift_Ins INS - - G TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr17:48051124_48051125insG ENST00000240306.3 + 3 835_836 c.540_541insG c.(538-543)tcggggfs p.SG180fs DLX4_ENST00000411890.2_Frame_Shift_Ins_p.SG108fs NM_138281.2 NP_612138.1 Q92988 DLX4_HUMAN distal-less homeobox 4 180 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3) 10 AGCAGAATTCTGGGGGGCAGGA 0.550 7 285 --- --- --- --- OR4D2 124538 broad.mit.edu 37 17 56247751 56247752 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr17:56247751_56247752insA ENST00000545221.1 + 1 735_736 c.735_736insA c.(733-738)attggtfs p.G246fs NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 CCCACATCATCGTGGTTTCCAT 0.530 23 577 --- --- --- --- SEC14L1 6397 broad.mit.edu 37 17 75205481 75205482 + Frame_Shift_Del DEL CT CT - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr17:75205481_75205482delCT ENST00000413679.2 + 14 1837_1838 c.1534_1535delCT c.(1534-1536)gfs p.L512fs SEC14L1_ENST00000430767.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000431431.2_Frame_Shift_Del_p.L478fs|SEC14L1_ENST00000591437.1_Frame_Shift_Del_p.L478fs|SEC14L1_ENST00000443798.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000436233.4_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000392476.2_Frame_Shift_Del_p.L512fs|SEC14L1_ENST00000585618.1_Frame_Shift_Del_p.L512fs NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 512 transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 TGCAGAGGAGCTGGAGAACGAA 0.550 10 76 --- --- --- --- IMPA2 3613 broad.mit.edu 37 18 12030413 12030414 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr18:12030413_12030414insA ENST00000269159.3 + 8 1065_1066 c.823_824insA c.(823-825)ggcfs p.G275fs IMPA2_ENST00000588927.1_Frame_Shift_Ins_p.G86fs|IMPA2_ENST00000589238.1_Frame_Shift_Ins_p.G86fs NM_014214.2 NP_055029.1 O14732 IMPA2_HUMAN inositol(myo)-1(or 4)-monophosphatase 2 275 inositol phosphate dephosphorylation|signal transduction cytoplasm inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1) 12 Lithium(DB01356) GCTCATAGCTCAGGCCTTACAG 0.619 9 278 --- --- --- --- DSG4 147409 broad.mit.edu 37 18 28992968 28992969 + Frame_Shift_Ins INS - - C TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr18:28992968_28992969insC ENST00000359747.4 + 15 2619_2620 c.2590_2591insC c.(2590-2592)gatfs p.D864fs DSG4_ENST00000308128.4_Frame_Shift_Ins_p.D845fs|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 845 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GACTCTTGCTGAGATCTGCTTA 0.421 18 242 --- --- --- --- CD97 976 broad.mit.edu 37 19 14516662 14516663 + Frame_Shift_Ins INS - - ACAGG TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr19:14516662_14516663insACAGG ENST00000242786.5 + 14 1812_1813 c.1732_1733insACAGG c.(1732-1734)gcgfs p.A578fs CD97_ENST00000358600.3_Frame_Shift_Ins_p.A485fs|CD97_ENST00000357355.3_Frame_Shift_Ins_p.A529fs|CTC-548K16.5_ENST00000590626.1_RNA NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 578 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CATCCAGGGCTCGCGCACCACC 0.639 20 162 --- --- --- --- NUDT19 390916 broad.mit.edu 37 19 33200241 33200242 + Frame_Shift_Ins INS - - A TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr19:33200241_33200242insA ENST00000397061.3 + 2 865_866 c.865_866insA c.(865-867)aagfs p.K289fs NM_001105570.1 NP_001099040.1 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 19 289 mitochondrion|peroxisome hydrolase activity|metal ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 Esophageal squamous(110;0.137) AGAAGGACTGGAAAGGTGGCTG 0.455 16 423 --- --- --- --- ZNF419 79744 broad.mit.edu 37 19 58004916 58004917 + Frame_Shift_Del DEL AT AT - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr19:58004916_58004917delAT ENST00000424930.2 + 5 1223_1224 c.994_995delAT c.(994-996)gfs p.M332fs ZNF419_ENST00000426954.2_Frame_Shift_Del_p.M319fs|ZNF419_ENST00000442920.2_Frame_Shift_Del_p.M318fs|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Frame_Shift_Del_p.M319fs|ZNF419_ENST00000221735.7_Frame_Shift_Del_p.M331fs|ZNF419_ENST00000347466.6_Frame_Shift_Del_p.M299fs|ZNF419_ENST00000415379.2_Frame_Shift_Del_p.M285fs NM_001098491.1|NM_024691.3 NP_001091961.1|NP_078967.3 Q96HQ0 ZN419_HUMAN zinc finger protein 419 331 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) CTCCAGCCTCATGAAACATCAG 0.401 39 119 --- --- --- --- SLC9A8 23315 broad.mit.edu 37 20 48472092 48472092 + Frame_Shift_Del DEL C C - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr20:48472092delC ENST00000417961.1 + 8 945 c.735delC c.(733-735)aafs p.N245fs SLC9A8_ENST00000539601.1_Frame_Shift_Del_p.N10fs|SLC9A8_ENST00000541138.1_5'UTR|SLC9A8_ENST00000361573.2_Frame_Shift_Del_p.N229fs NM_001260491.1|NM_015266.2 NP_001247420.1|NP_056081.1 Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 229 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) GTATTCTCAACGATGCAGTCT 0.448 8 107 --- --- --- --- IFNAR1 3454 broad.mit.edu 37 21 34725169 34725170 + Frame_Shift_Ins INS - - T TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr21:34725169_34725170insT ENST00000270139.3 + 9 1401_1402 c.1249_1250insT c.(1249-1251)aagfs p.K417fs IFNAR1_ENST00000416947.2_Frame_Shift_Ins_p.K348fs|IFNAR1_ENST00000442357.2_Intron NM_000629.2 NP_000620.2 P17181 INAR1_HUMAN interferon (alpha, beta and omega) receptor 1 417 Fibronectin type-III 3. JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway integral to plasma membrane type I interferon receptor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2) 14 Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022) AAAGCTGAATAAAAGCAGTGTT 0.322 17 70 --- --- --- --- KCNJ6 3763 broad.mit.edu 37 21 38997604 38997604 + Frame_Shift_Del DEL C C - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr21:38997604delC ENST00000400482.3 - 4 1718 c.1129delG c.(1129-1131)cafs p.A377fs KCNJ6_ENST00000288309.6_Frame_Shift_Del_p.A377fs NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 377 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) GGCAGCTCTGCCCTGCTGGCT 0.517 15 156 --- --- --- --- PARVB 29780 broad.mit.edu 37 22 44547421 44547422 + In_Frame_Ins INS - - TTG TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr22:44547421_44547422insTTG ENST00000338758.6 + 10 896_897 c.833_834insTTG c.(832-834)cga>cTTGga p.278_278R>LG PARVB_ENST00000404989.1_In_Frame_Ins_p.241_241R>LG|PARVB_ENST00000406477.3_In_Frame_Ins_p.311_311R>LG NM_013327.4 NP_037459.2 Q9HBI1 PARVB_HUMAN parvin, beta 278 CH 2. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) GTGACGGAACTGGAGACCCAGG 0.510 12 450 --- --- --- --- PKDREJ 10343 broad.mit.edu 37 22 46654994 46654994 + Frame_Shift_Del DEL T T - TCGA-A3-3365-01A-01W-0886-08 TCGA-A3-3365-11A-01W-0886-08 Untested Somatic Phase_I WXS none Illumina GAIIx c4438bff-fca3-4967-a447-ab247e553fbf aeed7fad-c565-4090-a6e9-1d21a36f5e2b g.chr22:46654994delT ENST00000253255.5 - 1 4225 c.4226delA c.(4225-4227)atfs p.N1409fs NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1409 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TCTATTTAGATTAAAGAACAT 0.338 10 206 --- --- --- ---