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 PRMT8 56341 broad.mit.edu 37 12 3649787 3649787 + Missense_Mutation SNP T T C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr12:3649787T>C ENST00000382622.3 + 2 481 c.91T>C c.(91-93)Tcc>Ccc p.S31P PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P NM_019854.4 NP_062828.3 Q9NR22 ANM8_HUMAN protein arginine methyltransferase 8 31 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) CAGCCCCCCCTCCCAGCCCCC 0.652000 22 510 0 0 1 0 0 NGEF 25791 broad.mit.edu 37 2 233785159 233785159 + Silent SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:233785159C>T ENST00000264051.3 - 5 941 c.663G>A c.(661-663)gaG>gaA p.E221E NGEF_ENST00000373552.4_Silent_p.E129E|NGEF_ENST00000409079.1_Silent_p.E129E NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 221 Poly-Glu.|Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity p.E221E(3) central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) cctcctcctcctcttcttctt 0.572000 7 438 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54120082 54120082 + Missense_Mutation SNP A A T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:54120082A>T ENST00000404125.1 - 36 4109 c.4054T>A c.(4054-4056)Ttt>Att p.F1352I PSME4_ENST00000421748.2_Missense_Mutation_p.F496I NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1352 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding p.F1238V(1) breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GCATCATCAAAATTCCTGAAT 0.363000 54 237 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109371498 109371498 + Silent SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:109371498G>A ENST00000283195.6 + 16 2466 c.2340G>A c.(2338-2340)ccG>ccA p.P780P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 780 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATTCTACACCGTCTCCTACCA 0.353000 7 1362 0 0 1 0 0 ZNF473 25888 broad.mit.edu 37 19 50549989 50549989 + Silent SNP C C T rs147792590 byFrequency TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:50549989C>T ENST00000595661.1 + 6 2784 c.2289C>T c.(2287-2289)tgC>tgT p.C763C CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Silent_p.C763C|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Silent_p.C751C|ZNF473_ENST00000270617.3_Silent_p.C763C|ZNF473_ENST00000601364.1_Intron Q8WTR7 ZN473_HUMAN zinc finger protein 473 763 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) GTCAGGAATGCGGGAAAGCCT 0.522000 OREG0025632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 581 0 0 1 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55284925 55284925 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:55284925C>T ENST00000336077.6 + 3 251 c.211C>T c.(211-213)Cgc>Tgc p.R71C KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R71C|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 71 Ig-like C2-type 1. immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CGACACTTTGCGCCTCATTGG 0.507000 7 899 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43543258 43543258 + Missense_Mutation SNP A A C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr21:43543258A>C ENST00000400427.1 + 16 3709 c.3313A>C c.(3313-3315)Agc>Cgc p.S1105R UMODL1_ENST00000400424.1_Missense_Mutation_p.S977R|UMODL1_ENST00000408910.2_Missense_Mutation_p.S1049R|UMODL1_ENST00000408989.2_Missense_Mutation_p.S1177R|UMODL1_ENST00000400423.2_3'UTR NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 1049 ZP. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 CCTCATGCAGAGCGTAAGACC 0.622000 30 166 0 0 1 0 0 FGFRL1 53834 broad.mit.edu 37 4 1019074 1019074 + Missense_Mutation SNP A A T rs77570255 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr4:1019074A>T ENST00000398484.2 + 8 2034 c.1454A>T c.(1453-1455)cAc>cTc p.H485L FGFRL1_ENST00000510644.1_Missense_Mutation_p.H485L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.H485L|FGFRL1_ENST00000264748.6_Missense_Mutation_p.H485L Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 485 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) acacacacacactctcacaca 0.607000 5 142 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111758041 111758041 + Missense_Mutation SNP C C A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr12:111758041C>A ENST00000261726.6 + 17 2382 c.2228C>A c.(2227-2229)gCc>gAc p.A743D NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 743 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GGGGCCCCGGCCTTGGTGAAG 0.756000 12 59 7.03913e-09 7.52458e-09 1 1 0 B4GALNT2 124872 broad.mit.edu 37 17 47247085 47247085 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:47247085G>A ENST00000300404.2 + 11 1755 c.1696G>A c.(1696-1698)Gca>Aca p.A566T B4GALNT2_ENST00000393354.2_Missense_Mutation_p.A506T|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.A480T NM_153446.2 NP_703147.2 Q8NHY0 B4GN2_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 2 566 lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) CCAATGTGCCGCATAAAGGTG 0.512000 4 225 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107032411 107032411 + Missense_Mutation SNP T T G TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:107032411T>G ENST00000409886.3 - 21 5046 c.4959A>C c.(4957-4959)gaA>gaC p.E1653D RGPD3_ENST00000304514.7_Missense_Mutation_p.E1653D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1653 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GAACCAATTCTTCTTTAGTAA 0.378000 47 296 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 9 297 1.5842e-08 1.67184e-08 1 1 0 TRPM4 54795 broad.mit.edu 37 19 49671336 49671336 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:49671336C>T ENST00000252826.5 + 4 556 c.430C>T c.(430-432)Cgg>Tgg p.R144W TRPM4_ENST00000427978.2_Missense_Mutation_p.R144W|TRPM4_ENST00000355712.5_Intron NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 144 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) TGGGCTGGTGCGGGCTGCCCA 0.731000 5 474 0 0 1 0 0 UBXN11 91544 broad.mit.edu 37 1 26608892 26608892 + Silent SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:26608892G>A ENST00000314675.7 - 11 1180 c.1101C>T c.(1099-1101)ccC>ccT p.P367P UBXN11_ENST00000374221.3_Silent_p.P487P|UBXN11_ENST00000374223.1_Silent_p.P244P|UBXN11_ENST00000357089.4_Silent_p.P454P|UBXN11_ENST00000374222.1_Silent_p.P487P|UBXN11_ENST00000374217.2_Silent_p.P454P NM_001077262.1 NP_001070730.1 Q5T124 UBX11_HUMAN UBX domain protein 11 487 cytoplasm|cytoskeleton endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3) 23 gaccgggaccgggacagggac 0.716000 7 444 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804477 27804477 + Missense_Mutation SNP G G A rs112465116 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:27804477G>A ENST00000408964.2 + 1 5089 c.5038G>A c.(5038-5040)Ggt>Agt p.G1680S NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1680 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GAGCCATCGCGGTCCCTCAGA 0.572000 7 1196 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457755 15457755 + Missense_Mutation SNP A A T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:15457755A>T ENST00000360151.4 - 8 813 c.814T>A c.(814-816)Tat>Aat p.Y272N NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GGAAGGGGATAGAGCAGACGC 0.512000 6 462 0 0 1 0 0 SLC52A3 113278 broad.mit.edu 37 20 744268 744268 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr20:744268C>T ENST00000381944.3 - 3 1188 c.947G>A c.(946-948)gGc>gAc p.G316D SLC52A3_ENST00000217254.7_Missense_Mutation_p.G316D|SLC52A3_ENST00000473664.1_Intron Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 316 sensory perception of sound integral to plasma membrane riboflavin transporter activity GGGCAGCATGCCGTTGGTGAG 0.632000 5 584 0 0 1 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6859874 6859874 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr18:6859874C>T ENST00000419673.2 + 4 444 c.227C>T c.(226-228)gCg>gTg p.A76V ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A58V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A76V|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.A235V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A71V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A76V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A235V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A183V NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 58 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) GGGAGTTTTGCGGTTCCCAGG 0.433000 6 450 0 0 1 0 0 IRS2 8660 broad.mit.edu 37 13 110434482 110434482 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr13:110434482C>T ENST00000375856.3 - 1 4433 c.3919G>A c.(3919-3921)Ggg>Agg p.G1307R NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 1307 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) CCCGGCCCCCCGCACCCGCCG 0.692000 24 107 0 0 1 0 0 FAM86C2P 0 broad.mit.edu 37 11 67564228 67564228 + RNA SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:67564228C>T ENST00000528089.1 - 0 912 GAGGAGCCCGCTGGTGCTCCC 0.627000 7 185 0 0 1 0 0 LUZP1 7798 broad.mit.edu 37 1 23418504 23418504 + Missense_Mutation SNP G G A rs146031719 byFrequency TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:23418504G>A ENST00000302291.4 - 4 3052 c.2251C>T c.(2251-2253)Cgg>Tgg p.R751W LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W|LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W Q86V48 LUZP1_HUMAN leucine zipper protein 1 751 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) GCTCTAGACCGCAACGCCTCT 0.478000 6 882 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 5 216 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2041801 2041801 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr8:2041801G>A ENST00000262113.4 + 17 2149 c.2008G>A c.(2008-2010)Gtg>Atg p.V670M MYOM2_ENST00000523438.1_Missense_Mutation_p.V95M NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 670 Fibronectin type-III 3. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TCTCAGGTTCGTGGTGCACGG 0.498000 67 324 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1081769 1081769 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr5:1081769C>T ENST00000264930.5 - 9 1263 c.1220G>A c.(1219-1221)aGc>aAc p.S407N NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 407 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GGGCAGTGCGCTGGCACGGCT 0.657000 5 412 0 0 1 0 0 LINC00842 0 broad.mit.edu 37 10 47133376 47133376 + RNA SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr10:47133376G>A ENST00000422732.2 - 0 435 NR_033957.1 TGCTGGAACCGCCAATAGCCA 0.498000 5 521 0 0 1 0 0 VIPAS39 63894 broad.mit.edu 37 14 77917637 77917637 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr14:77917637C>T ENST00000553888.1 - 4 746 c.236G>A c.(235-237)gGc>gAc p.G79D VIPAS39_ENST00000556412.1_Missense_Mutation_p.G105D|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G79D|VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000343765.2_Missense_Mutation_p.G79D|VIPAS39_ENST00000327028.4_Missense_Mutation_p.G79D NM_001193314.1|NM_001193317.1|NM_022067.3 NP_001180243.1|NP_001180246.1|NP_071350.2 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog GTGGGTTGAGCCGCTATTACC 0.483000 7 830 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94052353 94052353 + Nonsense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr7:94052353C>T ENST00000297268.6 + 40 2959 c.2488C>T c.(2488-2490)Cga>Tga p.R830* NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 830 Missing (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TCCAGTTGGCCGAACTGGAGA 0.567000 HNSCC(75;0.22) 105 424 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 9 316 0 0 1 0 0 ILF3 3609 broad.mit.edu 37 19 10793838 10793838 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:10793838G>A ENST00000449870.1 + 14 1903 c.1586G>A c.(1585-1587)gGc>gAc p.G529D ILF3_ENST00000407004.3_Missense_Mutation_p.G529D|ILF3_ENST00000420083.1_Missense_Mutation_p.G525D|ILF3_ENST00000590261.1_Missense_Mutation_p.G525D|ILF3_ENST00000318511.3_Missense_Mutation_p.G525D|ILF3_ENST00000250241.8_Missense_Mutation_p.G525D|ILF3_ENST00000589998.1_Missense_Mutation_p.G525D|ILF3_ENST00000588657.1_Missense_Mutation_p.G529D|ILF3_ENST00000592763.1_Missense_Mutation_p.G529D NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 525 DRBM 2. M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) ACAAAGCACGGCAAGAACCCA 0.557000 5 594 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71508260 71508260 + Missense_Mutation SNP C C A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr4:71508260C>A ENST00000396073.3 + 9 1398 c.1117C>A c.(1117-1119)Cgt>Agt p.R373S ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 373 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) ACAAGTAGCTCGTCCAGGAAA 0.438000 167 632 7.07589e-82 7.83402e-82 1 1 0 MYO9A 4649 broad.mit.edu 37 15 72338352 72338352 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr15:72338352C>T ENST00000356056.5 - 2 1025 c.553G>A c.(553-555)Gtt>Att p.V185I MYO9A_ENST00000444904.1_Missense_Mutation_p.V185I|MYO9A_ENST00000424560.1_Missense_Mutation_p.V185I|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000564571.1_Missense_Mutation_p.V185I NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 185 Myosin head-like 1. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GGGTTAATAACTATTAGAATA 0.328000 81 332 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 6 279 0 0 1 0 0 ZNF217 7764 broad.mit.edu 37 20 52198591 52198591 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr20:52198591G>A ENST00000371471.2 - 2 1200 c.775C>T c.(775-777)Ccg>Tcg p.P259S ZNF217_ENST00000302342.3_Missense_Mutation_p.P259S O75362 ZN217_HUMAN zinc finger protein 217 259 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) CTCGAGGACGGCATTCCTCCT 0.512000 6 731 0 0 1 0 0 OSBPL8 114882 broad.mit.edu 37 12 76791663 76791663 + Silent SNP T T C rs35436760 byFrequency TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr12:76791663T>C ENST00000261183.3 - 8 962 c.483A>G c.(481-483)ctA>ctG p.L161L OSBPL8_ENST00000393250.4_Silent_p.L119L|OSBPL8_ENST00000393249.2_Silent_p.L119L NM_020841.4 NP_065892.1 Q9BZF1 OSBL8_HUMAN oxysterol binding protein-like 8 161 PH. lipid transport lipid binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2) 28 TCCAGCTCTTTAGAGTACCAC 0.363000 58 224 0 0 1 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 7 248 0 0 1 0 0 ZNF581 51545 broad.mit.edu 37 19 56156512 56156512 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:56156512C>T ENST00000587252.1 + 2 848 c.575C>T c.(574-576)aCg>aTg p.T192M ZNF581_ENST00000588537.1_Missense_Mutation_p.T192M|ZNF581_ENST00000270451.5_Missense_Mutation_p.T192M Q9P0T4 ZN581_HUMAN zinc finger protein 581 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) CAGAAACACACGCGGTGGAAG 0.632000 5 445 0 0 1 0 0 GABRA5 2558 broad.mit.edu 37 15 27128316 27128316 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr15:27128316G>A ENST00000335625.5 + 5 1100 c.212G>A c.(211-213)cGc>cAc p.R71H GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.R71H|GABRA5_ENST00000400081.3_Missense_Mutation_p.R71H|GABRA5_ENST00000557449.1_Intron NM_000810.3 NP_000801.1 P31644 GBRA5_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 5 71 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTTTCAGAGCGCATCACTCAG 0.612000 4 223 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347018 71347018 + Missense_Mutation SNP C C A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr4:71347018C>A ENST00000413702.1 + 4 845 c.557C>A c.(556-558)cCa>cAa p.P186Q MUC7_ENST00000456088.1_Missense_Mutation_p.P186Q|MUC7_ENST00000304887.5_Missense_Mutation_p.P186Q NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 186 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) TCAGCTCCACCAGAGACCACA 0.582000 6 837 8.12818e-05 8.32971e-05 1 1 0 NABP2 79035 broad.mit.edu 37 12 56622875 56622875 + Missense_Mutation SNP T T C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr12:56622875T>C ENST00000380198.2 + 6 1012 c.514T>C c.(514-516)Tcc>Ccc p.S172P NABP2_ENST00000341463.5_Missense_Mutation_p.S172P|NABP2_ENST00000267023.4_Missense_Mutation_p.S172P nucleic acid binding protein 2 TCATACTCCCTCCCACCCACC 0.597000 8 131 0 0 1 0 0 SGK223 0 broad.mit.edu 37 8 8175797 8175797 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr8:8175797G>A ENST00000520004.1 - 6 4352 c.4088C>T c.(4087-4089)gCg>gTg p.A1363V SGK223_ENST00000330777.4_Missense_Mutation_p.A1363V Q86YV5 SG223_HUMAN 1363 ATP binding|non-membrane spanning protein tyrosine kinase activity CGCCTTCTCCGCAAACTTCAT 0.667000 6 895 0 0 1 0 0 ADRM1 11047 broad.mit.edu 37 20 60883800 60883800 + Missense_Mutation SNP G G T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr20:60883800G>T ENST00000253003.2 + 10 1253 c.1207G>T c.(1207-1209)Gac>Tac p.D403Y LAMA5_ENST00000492698.1_Intron NM_007002.2|NM_175573.1 NP_008933.2|NP_783163.1 Q16186 ADRM1_HUMAN adhesion regulating molecule 1 403 Interaction with UCHL5. proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1) 5 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) CGAAGAGGAGGACATGAGCCT 0.562000 32 159 3.1745e-13 3.42294e-13 1 1 0 TLR9 54106 broad.mit.edu 37 3 52257640 52257640 + Missense_Mutation SNP C C T rs147300053 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr3:52257640C>T ENST00000597542.1 - 9 1721 c.764G>A c.(763-765)cGc>cAc p.R255H TLR9_ENST00000494383.1_Silent_p.P384P|TLR9_ENST00000360658.2_Missense_Mutation_p.R231H Q9NR96 TLR9_HUMAN toll-like receptor 9 231 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) TTTGACGATGCGGTTGTAGGA 0.617000 4 187 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16919089 16919089 + Silent SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr10:16919089G>A ENST00000377833.4 - 57 8978 c.8913C>T c.(8911-8913)tcC>tcT p.S2971S NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2971 CUB 22. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCGTCACAGCGGAACGAGCTG 0.453000 4 152 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113078690 113078690 + Silent SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:113078690C>T ENST00000316851.7 + 6 852 c.852C>T c.(850-852)ggC>ggT p.G284G NCAM1_ENST00000401611.2_Silent_p.G293G|NCAM1_ENST00000533760.1_Silent_p.G176G|NCAM1_ENST00000397957.4_3'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 294 Ig-like C2-type 3. 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) ACAAGGCTGGCGAGCAGGATG 0.532000 18 72 0 0 1 0 0 TGM4 7047 broad.mit.edu 37 3 44935102 44935102 + Missense_Mutation SNP G G A rs147559877 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr3:44935102G>A ENST00000296125.4 + 5 532 c.464G>A c.(463-465)cGc>cAc p.R155H NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 155 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) GAGGACGAGCGCAAAGAGTAC 0.507000 5 376 0 0 1 0 0 CTNND1 1500 broad.mit.edu 37 11 57559074 57559074 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:57559074G>A ENST00000524630.1 + 3 637 c.124G>A c.(124-126)Gaa>Aaa p.E42K CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000360682.6_Missense_Mutation_p.E42K|CTNND1_ENST00000361796.4_Missense_Mutation_p.E42K|CTNND1_ENST00000532844.1_5'UTR|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000534579.1_5'UTR|CTNND1_ENST00000361332.4_Missense_Mutation_p.E42K|CTNND1_ENST00000399050.4_Missense_Mutation_p.E42K|CTNND1_ENST00000529919.1_Missense_Mutation_p.E42K|CTNND1_ENST00000428599.2_Missense_Mutation_p.E42K|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000526357.1_5'UTR|CTNND1_ENST00000530094.1_Intron|CTNND1_ENST00000399039.4_Missense_Mutation_p.E42K|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000528621.1_5'UTR|CTNND1_ENST00000529526.1_5'UTR|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000358694.6_Missense_Mutation_p.E42K|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000361391.6_Missense_Mutation_p.E42K|CTNND1_ENST00000532649.1_5'UTR|CTNND1_ENST00000530748.1_5'UTR|CTNND1_ENST00000526938.1_Missense_Mutation_p.E42K|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000532787.1_Intron|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000415361.2_Intron|RP11-691N7.6_ENST00000531074.1_3'UTR|CTNND1_ENST00000529873.1_5'UTR O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 42 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) GGCGCAGCTGGAACGCGTCCG 0.637000 37 198 0 0 1 0 0 RBM10 8241 broad.mit.edu 37 X 47030582 47030582 + Missense_Mutation SNP G G T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chrX:47030582G>T ENST00000377604.3 + 4 1099 c.357G>T c.(355-357)gaG>gaT p.E119D RBM10_ENST00000329236.7_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 119 Poly-Glu. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 aggaggaggaggatgaggagg 0.662000 5 65 1.024e-07 1.07153e-07 1 1 0 KRT14 3861 broad.mit.edu 37 17 39740094 39740094 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:39740094C>T ENST00000167586.6 - 4 931 c.845G>A c.(844-846)cGc>cAc p.R282H NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 282 Linker 12.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) GTTCAGAATGCGGCTCAGGTC 0.562000 6 763 0 0 1 0 0 ECT2L 345930 broad.mit.edu 37 6 139206663 139206663 + Silent SNP A A C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr6:139206663A>C ENST00000423192.1 + 16 2210 c.2049A>C c.(2047-2049)gcA>gcC p.A683A ECT2L_ENST00000367682.2_Silent_p.A683A|ECT2L_ENST00000541398.1_Intron Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 683 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 TGATACCAGCATTCCGAACTT 0.443000 """N, Splice, Mis""" ETP ALL 6 376 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004586 248004586 + Missense_Mutation SNP C C A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:248004586C>A ENST00000355784.2 - 1 668 c.613G>T c.(613-615)Gcc>Tcc p.A205S NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A205S(1) NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CACAGCACGGCAATTGACAGG 0.478000 18 429 9.16793e-09 9.75814e-09 1 1 0 LZTS1 11178 broad.mit.edu 37 8 20112535 20112535 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr8:20112535C>T ENST00000381569.1 - 2 515 c.158G>A c.(157-159)gGc>gAc p.G53D LZTS1_ENST00000522290.1_Missense_Mutation_p.G53D|LZTS1_ENST00000265801.6_Missense_Mutation_p.G53D Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 53 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GCTGGACTTGCCGTGACCGGA 0.577000 5 526 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64666137 64666137 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:64666137G>A ENST00000421419.2 - 32 4762 c.4648C>T c.(4648-4650)Cgg>Tgg p.R1550W ATG2A_ENST00000377264.3_Missense_Mutation_p.R1548W Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1548 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 CGCGGCATCCGCTCACTCGTG 0.607000 69 276 0 0 1 0 0 ARID3A 1820 broad.mit.edu 37 19 964984 964984 + Missense_Mutation SNP G G A rs143163296 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:964984G>A ENST00000263620.3 + 6 1429 c.1102G>A c.(1102-1104)Ggc>Agc p.G368S NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 368 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGGGCACACGGCATGCTCTC 0.642000 5 452 0 0 1 0 0 PRRX2 51450 broad.mit.edu 37 9 132481624 132481624 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:132481624G>A ENST00000372469.4 + 2 601 c.374G>A c.(373-375)cGc>cAc p.R125H NM_016307.3 NP_057391.1 Q99811 PRRX2_HUMAN paired related homeobox 2 125 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|pancreas(1) 3 Ovarian(14;0.00556) GTGTTCGAGCGCACGCACTAC 0.701000 4 57 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18960909 18960909 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:18960909G>A ENST00000262803.5 + 4 759 c.487G>A c.(487-489)Gca>Aca p.A163T UPF1_ENST00000600310.1_3'UTR|UPF1_ENST00000599848.1_Missense_Mutation_p.A163T NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 163 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding p.A163T(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 CCTTGTGAGGGCAAAATGCAA 0.517000 6 545 0 0 1 0 0 RFPL1 5988 broad.mit.edu 37 22 29834846 29834846 + Silent SNP C C T rs61734572 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr22:29834846C>T ENST00000354373.2 + 1 275 c.66C>T c.(64-66)tgC>tgT p.C22C RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 22 zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 TTCCCTTGTGCACTTTTCCCC 0.478000 6 503 0 0 1 0 0 ADA 100 broad.mit.edu 37 20 43257762 43257762 + Silent SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr20:43257762G>A ENST00000372874.4 - 3 278 c.144C>T c.(142-144)aaC>aaT p.N48N ADA_ENST00000537820.1_Silent_p.N48N NM_000022.2 NP_000013.2 P00813 ADA_HUMAN adenosine deaminase 48 adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1) 18 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) TGCCAATGACGTTCAGCAGCC 0.592000 Adenosine Deaminase Deficiency 6 441 0 0 1 0 0 CSF3R 1441 broad.mit.edu 37 1 36939177 36939177 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:36939177C>T ENST00000373103.1 - 6 1079 c.532G>A c.(532-534)Gtg>Atg p.V178M CSF3R_ENST00000373104.1_Missense_Mutation_p.V178M|CSF3R_ENST00000338937.5_Missense_Mutation_p.V178M|CSF3R_ENST00000331941.5_Missense_Mutation_p.V178M|CSF3R_ENST00000373106.1_Missense_Mutation_p.V178M|CSF3R_ENST00000361632.4_Missense_Mutation_p.V178M|CSF3R_ENST00000440588.2_Missense_Mutation_p.V178M|CSF3R_ENST00000418048.2_Missense_Mutation_p.V178M NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 178 Fibronectin type-III 1. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TCCTTGGGCACGCAGTCCAGG 0.607000 61 253 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TGGTActactgctgctgctgc 0.502000 T MLL ALL 9 707 0 0 1 0 0 ARID3B 10620 broad.mit.edu 37 15 74883672 74883672 + Silent SNP T T C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr15:74883672T>C ENST00000346246.5 + 6 1293 c.1062T>C c.(1060-1062)ctT>ctC p.L354L NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 354 Interaction with RB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.L354L(1) NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 CCCCTGCCCTTCTCTCCCCAC 0.647000 10 719 0 0 1 0 0 NCOR1P1 0 broad.mit.edu 37 20 26084295 26084295 + RNA SNP C C T rs76611503 by1000genomes TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr20:26084295C>T ENST00000478176.1 - 0 162 NR_003678.1 p.G41R(1) TGTTTGCCTCCAAATGCTGGA 0.373000 7 327 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81743580 81743580 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr14:81743580G>A ENST00000555447.1 - 6 2487 c.2075C>T c.(2074-2076)aCg>aTg p.T692M STON2_ENST00000267540.2_Missense_Mutation_p.T692M NM_001256430.1 NP_001243359.1 Q8WXE9 STON2_HUMAN stonin 2 692 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) ACTTGTGGCCGTCCTGAGTGT 0.557000 6 714 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3293588 3293588 + Silent SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:3293588C>T ENST00000219596.1 - 10 1938 c.1899G>A c.(1897-1899)ccG>ccA p.P633P MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 633 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CAAATCTTTGCGGGCCATCAG 0.517000 7 1242 0 0 1 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186769122 186769122 + Silent SNP G G C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr3:186769122G>C ENST00000169298.3 + 5 1367 c.693G>C c.(691-693)ctG>ctC p.L231L ST6GAL1_ENST00000457772.2_5'UTR|ST6GAL1_ENST00000448044.1_Silent_p.L231L NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 231 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) CCATTCGCCTGATGAACTCTC 0.453000 26 267 0 0 1 0 0 SCML1 6322 broad.mit.edu 37 X 17770059 17770059 + Silent SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chrX:17770059C>T ENST00000380043.3 + 6 1075 c.747C>T c.(745-747)tgC>tgT p.C249C SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C NM_006746.4 NP_006737.2 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 (Drosophila) 276 anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1) 10 Hepatocellular(33;0.183) TTGCATTATGCCCTCTTGTCG 0.448000 7 961 0 0 1 0 0 LGMN 5641 broad.mit.edu 37 14 93199026 93199026 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr14:93199026C>T ENST00000393218.2 - 3 443 c.106G>A c.(106-108)Ggt>Agt p.G36S LGMN_ENST00000555699.1_Missense_Mutation_p.G36S|LGMN_ENST00000557434.1_Missense_Mutation_p.G36S|LGMN_ENST00000334869.4_Missense_Mutation_p.G36S NM_001008530.2 NP_001008530.1 Q99538 LGMN_HUMAN legumain 36 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) CCATTTGAACCTGCCACGATC 0.443000 8 981 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3801767 3801767 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:3801767C>T ENST00000262367.5 - 20 4548 c.3739G>A c.(3739-3741)Gag>Aag p.E1247K CREBBP_ENST00000382070.3_Missense_Mutation_p.E1209K NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1247 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GTCACATTCTCGCCCTGGATC 0.502000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 50 202 0 0 1 0 0 DDX47 51202 broad.mit.edu 37 12 12980302 12980302 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr12:12980302C>T ENST00000358007.3 + 11 1251 c.1229C>T c.(1228-1230)gCc>gTc p.A410V DDX47_ENST00000352940.4_Missense_Mutation_p.A361V|RP11-59H1.3_ENST00000534843.1_3'UTR NM_016355.3 NP_057439.2 Q9H0S4 DDX47_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 410 nucleolus ATP binding|ATP-dependent helicase activity|protein binding|RNA binding breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Prostate(47;0.0526) BRCA - Breast invasive adenocarcinoma(232;0.0354) CAAAGGTTTGCCCGAATGGTA 0.428000 6 934 0 0 1 0 0 HNRNPH1 3187 broad.mit.edu 37 5 179044053 179044053 + Splice_Site SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr5:179044053G>A ENST00000356731.5 - 9 2651 c.1117_splice c.e9+1 p.Y372_splice HNRNPH1_ENST00000510411.1_Silent_p.Y372Y|HNRNPH1_ENST00000511300.2_Silent_p.Y102Y|HNRNPH1_ENST00000329433.6_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000393432.4_Splice_Site_p.Y372_splice|HNRNPH1_ENST00000442819.2_Splice_Site_p.Y372_splice P31943 HNRH1_HUMAN heterogeneous nuclear ribonucleoprotein H1 (H) 372 2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats. regulation of RNA splicing actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|poly(U) RNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1) 14 TTTGGCTACCGTAAGCACCAC 0.373000 8 555 0 0 1 0 0 RLIM 51132 broad.mit.edu 37 X 73811938 73811938 + Silent SNP G G C rs61754468 by1000genomes TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chrX:73811938G>C ENST00000332687.6 - 4 1430 c.1212C>G c.(1210-1212)acC>acG p.T404T RLIM_ENST00000349225.2_Silent_p.T404T NM_016120.3 NP_057204.2 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 404 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.T404T(6) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GCCTTAACATGGTCTGAATTG 0.413000 11 311 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162498 90162498 + RNA SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:90162498C>T ENST00000564451.1 + 0 1851 TUBB8P7_ENST00000567960.1_RNA TCACCGAGGCCGAGAGCAACA 0.542000 5 547 0 0 1 0 0 GORASP2 26003 broad.mit.edu 37 2 171818252 171818252 + Silent SNP A A C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:171818252A>C ENST00000234160.4 + 8 1718 c.903A>C c.(901-903)acA>acC p.T301T GORASP2_ENST00000493692.1_3'UTR|GORASP2_ENST00000452526.2_Silent_p.T313T NM_001201428.1|NM_015530.4 NP_001188357.1|NP_056345.3 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2, 55kDa 301 Pro-rich. Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 CAGCTACTACATTACCAGGTA 0.393000 107 469 0 0 1 0 0 FAM86DP 0 broad.mit.edu 37 3 75475639 75475639 + RNA SNP T T C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr3:75475639T>C ENST00000459803.1 - 0 890 NR_024241.1 p.H284R(1) CTCTGGGTTGTGGACGGTAAA 0.662000 5 507 0 0 1 0 0 RRAGD 58528 broad.mit.edu 37 6 90097155 90097155 + Silent SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr6:90097155G>A ENST00000369415.4 - 2 579 c.303C>T c.(301-303)tgC>tgT p.C101C RRAGD_ENST00000359203.2_Intron|RRAGD_ENST00000492783.1_5'UTR NM_021244.4 NP_067067.1 Q9NQL2 RRAGD_HUMAN Ras-related GTP binding D 101 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity p.C101C(1) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2) 15 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) CATCTTCCCGGCATATCTTAT 0.428000 8 990 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99640630 99640630 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr12:99640630C>T ENST00000547776.2 - 13 1768 c.1769G>A c.(1768-1770)cGa>cAa p.R590Q ANKS1B_ENST00000547010.1_Missense_Mutation_p.R170Q|ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R590Q NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 590 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) GTCATCCTGTCGGGAGAGGTC 0.468000 157 677 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123780522 123780522 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr12:123780522G>A ENST00000420886.2 - 31 4114 c.4115C>T c.(4114-4116)gCg>gTg p.A1372V SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 1372 ATP binding|DNA binding|hydrolase activity p.A1371V(2) NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) CTGTTGGACCGCAAGCTGTTG 0.433000 6 932 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 7 260 0 0 1 0 0 TTC17 55761 broad.mit.edu 37 11 43471655 43471655 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:43471655C>T ENST00000039989.4 + 20 2824 c.2810C>T c.(2809-2811)gCc>gTc p.A937V NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 937 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 ATAGATTTTGCCACCCCTATA 0.473000 6 684 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195517556 195517556 + Missense_Mutation SNP T T A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr3:195517556T>A ENST00000463781.3 - 2 1354 c.895A>T c.(895-897)Aca>Tca p.T299S MUC4_ENST00000475231.1_Missense_Mutation_p.T299S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 304 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGATCAAATGTTACTAAGGCT 0.483000 7 459 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070687 141070687 + RNA SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:141070687C>T ENST00000503395.1 + 0 1462 ACAACTGGGCCAAGGGACGCT 0.577000 15 101 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25451163 25451163 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr13:25451163C>T ENST00000255324.5 + 34 4664 c.4612C>T c.(4612-4614)Cgg>Tgg p.R1538W RNF17_ENST00000381921.1_Missense_Mutation_p.R1496W|RNF17_ENST00000339524.3_Missense_Mutation_p.R548W NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1538 Tudor 4. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TCATCTTATGCGGTATCCAGC 0.403000 6 560 0 0 1 0 0 FIBCD1 84929 broad.mit.edu 37 9 133779512 133779512 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:133779512C>T ENST00000372338.4 - 7 1567 c.1325G>A c.(1324-1326)gGc>gAc p.G442D FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000448616.1_Missense_Mutation_p.G442D|FIBCD1_ENST00000372337.2_Missense_Mutation_p.G284D NM_032843.4 NP_116232.3 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 442 Fibrinogen C-terminal. signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) GTACTGCCAGCCGGTCCAGGA 0.637000 5 413 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 703653 703653 + Silent SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:703653C>T ENST00000549091.1 + 12 1454 c.1362C>T c.(1360-1362)caC>caT p.H454H WDR90_ENST00000293879.4_Silent_p.H454H NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 454 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GCCCAATGCACGTTGTCTGCT 0.637000 68 252 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75230759 75230759 + Silent SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr14:75230759G>A ENST00000325680.7 + 1 691 c.567G>A c.(565-567)ccG>ccA p.P189P YLPM1_ENST00000238571.3_Silent_p.P189P|YLPM1_ENST00000552421.1_Silent_p.P189P NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 32 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CTGCTCAGCCGTCCCCTTCGC 0.597000 5 461 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270018 114270018 + Silent SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr7:114270018G>A ENST00000393500.3 + 11 1150 c.330G>A c.(328-330)caG>caA p.Q110Q FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q|FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q O15409 FOXP2_HUMAN forkhead box P2 185 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning 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 p.Q210Q(2) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcaacagcagcagcagc 0.502000 5 347 0 0 1 0 0 DUSP13 0 broad.mit.edu 37 10 76855494 76855494 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr10:76855494G>A ENST00000491677.2 - 7 1162 c.620C>T c.(619-621)gCc>gTc p.A207V DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000472493.2_Missense_Mutation_p.A78V|DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V|DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V|DUSP13_ENST00000372702.3_3'UTR NM_001007271.1 NP_001007272.1 Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 70 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) GCCTGCAGCGGCATTCACAAC 0.577000 6 747 0 0 1 0 0 RNF43 54894 broad.mit.edu 37 17 56448270 56448270 + Splice_Site SNP A A G TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:56448270A>G ENST00000584437.1 - 2 2331 c.e2+1 RNF43_ENST00000581868.1_Splice_Site|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000407977.2_Splice_Site|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000577625.1_Splice_Site|RNF43_ENST00000577716.1_Splice_Site|BZRAP1-AS1_ENST00000583841.1_RNA Q68DV7 RNF43_HUMAN ring finger protein 43 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding 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) GTGTGAGTCTACCTTGCTAGC 0.582000 116 245 0 0 1 0 0 C20orf195 79025 broad.mit.edu 37 20 62187669 62187669 + Missense_Mutation SNP C C T rs117659219 byFrequency TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr20:62187669C>T ENST00000370098.3 + 2 745 c.653C>T c.(652-654)gCg>gTg p.A218V C20orf195_ENST00000370097.1_Missense_Mutation_p.A218V NM_024059.2 NP_076964.1 Q9BVV2 CT195_HUMAN chromosome 20 open reading frame 195 218 large_intestine(3)|lung(4) 7 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) AAGGCGTCGGCGGCTCACCAG 0.622000 185 906 0 0 1 0 0 ODC1 4953 broad.mit.edu 37 2 10583672 10583672 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:10583672C>T ENST00000234111.4 - 7 1120 c.610G>A c.(610-612)Gat>Aat p.D204N ODC1_ENST00000405333.1_Missense_Mutation_p.D204N NM_002539.1 NP_002530.1 P11926 DCOR_HUMAN ornithine decarboxylase 1 204 polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus cytosol ornithine decarboxylase activity|protein binding NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161) Pyridoxal Phosphate(DB00114)|Spermine(DB00127) GTCTCAGGATCGGTACAGCCG 0.478000 83 464 0 0 1 0 0 SYT12 91683 broad.mit.edu 37 11 66807334 66807334 + Missense_Mutation SNP G G A rs34985365 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:66807334G>A ENST00000393946.2 + 7 1443 c.281G>A c.(280-282)cGc>cAc p.R94H SYT12_ENST00000525457.1_Missense_Mutation_p.R94H|SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Missense_Mutation_p.R94H Q8IV01 SYT12_HUMAN synaptotagmin XII 94 cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 CCACCCAGCCGCAAAGGCAGT 0.637000 6 776 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 9 294 0 0 1 0 0 SYNPO 11346 broad.mit.edu 37 5 150029608 150029608 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr5:150029608G>A ENST00000394243.1 + 3 2877 c.2503G>A c.(2503-2505)Gcc>Acc p.A835T SYNPO_ENST00000522122.1_Missense_Mutation_p.A835T|SYNPO_ENST00000519664.1_Missense_Mutation_p.A591T|SYNPO_ENST00000307662.4_Missense_Mutation_p.A591T NM_001166208.1 NP_001159680.1 Q8N3V7 SYNPO_HUMAN synaptopodin 835 Pro-rich. positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGCCTCGCCCGCCAAGCCCAG 0.667000 6 694 0 0 1 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129854112 129854112 + Silent SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:129854112G>A ENST00000373425.3 - 4 1736 c.1119C>T c.(1117-1119)tcC>tcT p.S373S RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Silent_p.S71S NM_012098.2 NP_036230.1 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 373 Fibrinogen C-terminal. multicellular organismal development|signal transduction extracellular space receptor binding p.S373S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 CTTTGCGGCCGGACCAGTCCT 0.552000 8 1451 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45153640 45153640 + Missense_Mutation SNP T T C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr3:45153640T>C ENST00000296129.1 - 3 724 c.590A>G c.(589-591)cAc>cGc p.H197R CDCP1_ENST00000425231.2_Missense_Mutation_p.H197R NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 197 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CCATGGGAGGTGTAAGGCCAT 0.522000 7 492 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 4 204 0 0 1 0 0 VGLL3 389136 broad.mit.edu 37 3 87017871 87017871 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr3:87017871G>A ENST00000398399.2 - 3 1169 c.806C>T c.(805-807)gCg>gTg p.A269V VGLL3_ENST00000383698.3_Missense_Mutation_p.A269V NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) AATCCTGGCCGCATGCACTGA 0.572000 4 214 0 0 1 0 0 C16orf71 146562 broad.mit.edu 37 16 4787893 4787893 + Silent SNP C C A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:4787893C>A ENST00000299320.5 + 3 700 c.222C>A c.(220-222)gcC>gcA p.A74A RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Silent_p.A74A NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 74 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 AAGATCCTGCCGATGGCGACA 0.572000 5 345 1 1 1 1 0 RASSF2 9770 broad.mit.edu 37 20 4771183 4771183 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr20:4771183G>A ENST00000379400.3 - 7 646 c.451C>T c.(451-453)Cgc>Tgc p.R151C RASSF2_ENST00000379376.2_Missense_Mutation_p.R151C|RASSF2_ENST00000478553.1_5'UTR NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 151 cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 TTGCCACGGCGACGCACCCCA 0.592000 54 154 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61511762 61511762 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:61511762C>T ENST00000257215.5 + 20 3046 c.2930C>T c.(2929-2931)gCc>gTc p.A977V NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 977 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CGGCTCTTTGCCGGCTCAGCC 0.672000 5 507 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13604934 13604934 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr4:13604934G>A ENST00000040738.5 - 10 3725 c.3590C>T c.(3589-3591)gCc>gTc p.A1197V NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1197 DNA binding TCTATGATCGGCATGCTTTTC 0.423000 7 969 0 0 1 0 0 CREBZF 58487 broad.mit.edu 37 11 85375165 85375165 + Missense_Mutation SNP T T C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:85375165T>C ENST00000527447.1 - 1 981 c.755A>G c.(754-756)gAg>gGg p.E252G CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.E170G NM_001039618.2 NP_001034707.1 Q9NS37 ZHANG_HUMAN CREB/ATF bZIP transcription factor 252 Leucine-zipper. negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) TTTGCCCAGCTCCCGATTCTC 0.622000 OREG0021274 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 244 1091 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587730 43587730 + RNA SNP A A C rs142536398 by1000genomes TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:43587730A>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA GTATTGATTCATTTTATTCAT 0.343000 9 266 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664056 22664056 + RNA SNP T T C rs3178309 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr22:22664056T>C ENST00000426066.1 + 0 623 NR_027293.1 ATAAAGTATATGATTTTGTGT 0.348000 4 228 0 0 1 0 0 ATP2A1 487 broad.mit.edu 37 16 28912189 28912189 + Missense_Mutation SNP G G C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:28912189G>C ENST00000395503.4 + 15 2236 c.2052G>C c.(2050-2052)aaG>aaC p.K684N ATP2A1_ENST00000536376.1_Missense_Mutation_p.K559N|ATP2A1_ENST00000357084.3_Missense_Mutation_p.K684N NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 684 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 CCTCGCACAAGTCCAAGATTG 0.627000 4 386 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49087735 49087735 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr12:49087735G>A ENST00000261900.3 - 9 1484 c.1262C>T c.(1261-1263)gCt>gTt p.A421V NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 421 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 ATTCTGGGCAGCATATGCATA 0.463000 6 800 0 0 1 0 0 MAP4K1 11184 broad.mit.edu 37 19 39100239 39100239 + Missense_Mutation SNP A A G TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:39100239A>G ENST00000591517.1 - 13 1031 c.1003T>C c.(1003-1005)Tgt>Cgt p.C335R MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Missense_Mutation_p.C335R|MAP4K1_ENST00000586296.1_Splice_Site_p.C335_splice|MAP4K1_ENST00000589130.1_Missense_Mutation_p.C331R|MAP4K1_ENST00000589002.1_5'UTR NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 335 activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) TACTCACGACAGCAGTCTGCA 0.582000 42 98 0 0 1 0 0 NUMA1 0 broad.mit.edu 37 11 71724163 71724163 + Silent SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:71724163C>T ENST00000393695.3 - 15 4717 c.4386G>A c.(4384-4386)cgG>cgA p.R1462R NUMA1_ENST00000358965.6_Silent_p.R1462R|NUMA1_ENST00000351960.6_Intron NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1462 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CCAGAAACTGCCGGCCAAGGT 0.622000 T RARA APL 8 902 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642989 1642989 + Missense_Mutation SNP C C A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:1642989C>A ENST00000399682.1 - 1 379 c.335G>T c.(334-336)gGc>gTc p.G112V NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 112 9 X 4 AA repeats of C-C-X-P. keratin filament p.G112V(3) NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCACAGGAGCCACAGCCCCC 0.677000 15 917 1.12875e-08 1.19628e-08 1 1 0 PEPD 5184 broad.mit.edu 37 19 33991872 33991872 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:33991872G>A ENST00000244137.6 - 4 398 c.365C>T c.(364-366)gCc>gTc p.A122V PEPD_ENST00000397032.4_Missense_Mutation_p.A122V|PEPD_ENST00000436370.3_Intron NM_000285.3 NP_000276.2 P12955 PEPD_HUMAN peptidase D 122 cellular amino acid metabolic process|collagen catabolic process|proteolysis aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity p.A122V(1) endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 17 Esophageal squamous(110;0.137) GTCGTCCACGGCATACTTCTC 0.557000 6 680 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 25 250 0 0 1 0 0 GPAT2 150763 broad.mit.edu 37 2 96690307 96690307 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:96690307G>A ENST00000434632.1 - 16 1996 c.1537C>T c.(1537-1539)Cgg>Tgg p.R513W GPAT2_ENST00000377137.3_Missense_Mutation_p.R513W|GPAT2_ENST00000359548.4_Missense_Mutation_p.R513W|GPAT2_ENST00000453542.1_Missense_Mutation_p.R442W Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 513 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 ACGTGCGCCCGCAGCAGGCTC 0.642000 5 439 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70332955 70332955 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:70332955G>A ENST00000338508.4 - 32 3445 c.3446C>T c.(3445-3447)gCc>gTc p.A1149V SHANK2_ENST00000423696.2_Missense_Mutation_p.A769V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A552V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A553V Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 769 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CCTGGGCGTGGCACTCGGCAT 0.687000 5 446 0 0 1 0 0 HRC 3270 broad.mit.edu 37 19 49657913 49657913 + Silent SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:49657913C>T ENST00000252825.4 - 1 768 c.582G>A c.(580-582)gaG>gaA p.E194E HRC_ENST00000595625.1_Silent_p.E194E NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 194 4 X tandem repeats, acidic.|6 X approximate tandem repeats.|Glu-rich (acidic). muscle contraction sarcoplasmic reticulum lumen calcium ion binding p.E194E(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) cctcctcctcctcttcTCCTT 0.557000 6 450 0 0 1 0 0 KLK7 5650 broad.mit.edu 37 19 51480876 51480876 + Silent SNP G G A rs17855561 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:51480876G>A ENST00000391807.1 - 6 779 c.678C>T c.(676-678)tgC>tgT p.C226C KLK7_ENST00000336317.4_Silent_p.C113C|KLK7_ENST00000595820.1_Silent_p.C226C|KLK7_ENST00000597707.1_Silent_p.C154C|CTB-147C22.9_ENST00000594512.1_RNA NM_139277.2 NP_644806.1 P49862 KLK7_HUMAN kallikrein-related peptidase 7 226 Peptidase S1. C -> W (in Ref. 6; AAH32005). epidermis development|proteolysis extracellular region serine-type endopeptidase activity p.C226C(1) NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) TGGGTTGGCCGCAAGGGAAAG 0.517000 6 604 0 0 1 0 0 CEP97 79598 broad.mit.edu 37 3 101446386 101446386 + Splice_Site SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr3:101446386G>A ENST00000341893.3 + 3 1097 c.e3+1 CEP97_ENST00000494050.1_Splice_Site|CEP97_ENST00000327230.4_Splice_Site Q8IW35 CEP97_HUMAN centrosomal protein 97kDa centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 TAATCTTAAGGTGAATGGTTT 0.343000 75 372 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152732580 152732580 + Silent SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:152732580C>T ENST00000368773.1 + 2 574 c.516C>T c.(514-516)tgC>tgT p.C172C KPRP_ENST00000606109.1_Silent_p.C172C NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 172 Gln-rich. cytoplasm p.C172C(1) NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCAGTGTGCCAGCCTCAGG 0.522000 5 590 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 6 683 0 0 1 0 0 ZNF677 342926 broad.mit.edu 37 19 53740485 53740485 + Missense_Mutation SNP G G A rs140137479 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:53740485G>A ENST00000333952.4 - 5 1660 c.1495C>T c.(1495-1497)Cgt>Tgt p.R499C ZNF677_ENST00000598513.1_Missense_Mutation_p.R499C Q86XU0 ZN677_HUMAN zinc finger protein 677 499 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) AGATTTGAACGTTCAGTAAAG 0.383000 5 438 0 0 1 0 0 RBM14 10432 broad.mit.edu 37 11 66392698 66392698 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:66392698G>A ENST00000310137.4 + 2 1490 c.1351G>A c.(1351-1353)Gca>Aca p.A451T RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000409738.4_Intron NM_006328.3 NP_006319.1 Q96PK6 RBM14_HUMAN RNA binding motif protein 14 451 Ala-rich. DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus mediator complex|ribonucleoprotein complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity RBM14/PACS1(2) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 AGCCTACGCCGCACAAGCCAC 0.617000 10 1074 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C rs139671425 by1000genomes TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:39240627T>C ENST00000391417.4 + 1 169 c.169T>C c.(169-171)Tct>Cct p.S57P NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.S57P(4) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 GTGCTGCCAGTCTGTGTGCTG 0.667000 15 309 0 0 1 0 0 AADACL3 126767 broad.mit.edu 37 1 12779503 12779503 + Missense_Mutation SNP C C G TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:12779503C>G ENST00000359318.5 + 2 229 c.24C>G c.(22-24)atC>atG p.I8M AADACL3_ENST00000332530.3_Intron NM_001103170.1 NP_001096640.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 8 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) AGCTCAGAATCTGTTCTATGC 0.478000 181 859 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38690644 38690644 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr6:38690644C>T ENST00000449981.2 + 2 168 c.59C>T c.(58-60)aCg>aTg p.T20M dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 CCTCCCTCTACGGAAGAGGCT 0.592000 26 68 0 0 1 0 0 ZC3H12A 80149 broad.mit.edu 37 1 37947303 37947303 + Missense_Mutation SNP A A G TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:37947303A>G ENST00000373087.6 + 4 801 c.685A>G c.(685-687)Att>Gtt p.I229V NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 229 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CGACAGATTCATTGTGAAGCT 0.572000 97 398 0 0 1 0 0 UNC50 25972 broad.mit.edu 37 2 99226304 99226304 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:99226304G>A ENST00000409975.1 + 1 1263 c.133G>A c.(133-135)Gga>Aga p.G45R UNC50_ENST00000409347.1_Missense_Mutation_p.G45R|UNC50_ENST00000357765.2_Missense_Mutation_p.G28R Q53HI1 UNC50_HUMAN unc-50 homolog (C. elegans) 28 protein transport Golgi membrane|integral to membrane|nuclear inner membrane RNA binding breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1) 10 ACACACAGCCGGAGCGAAACG 0.483000 8 932 0 0 1 0 0 ADRM1 11047 broad.mit.edu 37 20 60883799 60883799 + Missense_Mutation SNP G G T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr20:60883799G>T ENST00000253003.2 + 10 1252 c.1206G>T c.(1204-1206)gaG>gaT p.E402D LAMA5_ENST00000492698.1_Intron NM_007002.2|NM_175573.1 NP_008933.2|NP_783163.1 Q16186 ADRM1_HUMAN adhesion regulating molecule 1 402 Interaction with UCHL5. proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1) 5 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) ACGAAGAGGAGGACATGAGCC 0.557000 32 167 3.1745e-13 3.42294e-13 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 10 925 0 0 1 0 0 TBC1D3P2 0 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 5 131 0 0 1 0 0 EFTUD2 9343 broad.mit.edu 37 17 42953434 42953434 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:42953434G>A ENST00000426333.2 - 10 1034 c.737C>T c.(736-738)gCg>gTg p.A246V EFTUD2_ENST00000402521.3_Missense_Mutation_p.A211V|EFTUD2_ENST00000592576.1_Missense_Mutation_p.A236V|EFTUD2_ENST00000591382.1_Missense_Mutation_p.A246V NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 246 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) CTCCTGCACCGCATGCTTGAT 0.517000 7 778 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72404390 72404390 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:72404390G>A ENST00000359373.5 - 29 4785 c.3934C>T c.(3934-3936)Cgg>Tgg p.R1312W ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1312W|ARAP1_ENST00000426523.1_Missense_Mutation_p.R1067W|ARAP1_ENST00000429686.1_Missense_Mutation_p.R1006W|ARAP1_ENST00000393605.3_Missense_Mutation_p.R1072W|ARAP1_ENST00000334211.8_Missense_Mutation_p.R1067W|ARAP1_ENST00000393609.3_Missense_Mutation_p.R1312W|ARAP1-AS1_ENST00000542022.1_RNA Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 1312 PH 4. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 TTGTAGAGCCGCAAGCAGCTG 0.612000 5 429 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 10 203 4.68919e-08 4.92762e-08 1 1 0 TRIM28 10155 broad.mit.edu 37 19 59061796 59061796 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:59061796G>A ENST00000253024.5 + 17 2673 c.2384G>A c.(2383-2385)cGc>cAc p.R795H TRIM28_ENST00000341753.6_Missense_Mutation_p.R713H NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 795 Bromo. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TTCGAGACGCGCATGAACGAG 0.602000 5 612 0 0 1 0 0 SFXN4 119559 broad.mit.edu 37 10 120914629 120914629 + Missense_Mutation SNP G G A rs151157939 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr10:120914629G>A ENST00000355697.2 - 11 696 c.677C>T c.(676-678)gCg>gTg p.A226V SFXN4_ENST00000330036.6_Missense_Mutation_p.A217V|SFXN4_ENST00000461438.1_5'UTR NM_213649.1 NP_998814.1 Q6P4A7 SFXN4_HUMAN sideroflexin 4 226 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 11 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0261) GTCCATGACCGCAATCCCCTT 0.478000 5 417 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120438703 120438703 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:120438703C>T ENST00000369400.1 - 1 415 c.257G>A c.(256-258)cGa>cAa p.R86Q NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 86 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GCGCAGATGTCGGGGCAACAG 0.527000 5 368 0 0 1 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705440 41705440 + Missense_Mutation SNP G G T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr13:41705440G>T ENST00000379485.1 - 1 1442 c.1208C>A c.(1207-1209)aCa>aAa p.T403K KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 403 protein binding p.T403K(7) 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) CCAGAGGTCTGTCCTGGGCTG 0.507000 6 686 0.000274275 0.000279919 1 1 0 ABCB8 11194 broad.mit.edu 37 7 150741223 150741223 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr7:150741223G>A ENST00000358849.4 + 15 2024 c.1931G>A c.(1930-1932)cGc>cAc p.R644H ABCB8_ENST00000542328.1_Missense_Mutation_p.R556H|ABCB8_ENST00000498578.1_Missense_Mutation_p.R644H|ABCB8_ENST00000297504.6_Missense_Mutation_p.R661H|ABCB8_ENST00000356058.4_3'UTR NM_007188.3 NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 661 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGTGCAGGCCGCACGGTGCTG 0.642000 5 349 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 7 308 0 0 1 0 0 CNOT6 57472 broad.mit.edu 37 5 179992902 179992902 + Silent SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr5:179992902G>A ENST00000393356.1 + 9 1066 c.642G>A c.(640-642)gcG>gcA p.A214A CNOT6_ENST00000261951.4_Silent_p.A214A Q9ULM6 CNOT6_HUMAN CCR4-NOT transcription complex, subunit 6 214 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus exonuclease activity|metal ion binding|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) CATCATGGGCGCTAAACTGGG 0.418000 5 462 0 0 1 0 0 PRMT1 0 broad.mit.edu 37 19 50189963 50189963 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:50189963C>T ENST00000532489.1 + 10 1380 c.874C>T c.(874-876)Cgg>Tgg p.R292W PRMT1_ENST00000454376.2_Missense_Mutation_p.R338W|PRMT1_ENST00000391851.4_Missense_Mutation_p.R320W Q8WUW5 Q8WUW5_HUMAN protein arginine methyltransferase 1 319 cytoplasm protein methyltransferase activity p.R314W(1) cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2) 12 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) CATCGGCATGCGGCCCAACGC 0.647000 6 301 0 0 1 0 0 ARG1 383 broad.mit.edu 37 6 131894445 131894445 + Missense_Mutation SNP T T C rs149310631 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr6:131894445T>C ENST00000368087.3 + 1 162 c.23T>C c.(22-24)aTa>aCa p.I8T ARG1_ENST00000498260.1_3'UTR|ARG1_ENST00000476845.1_Missense_Mutation_p.I8T|ARG1_ENST00000356962.2_Missense_Mutation_p.I8T P05089 ARGI1_HUMAN arginase 1 8 arginine catabolic process|urea cycle cytosol arginase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3) 14 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713) L-Ornithine(DB00129) TCCAGAACCATAGGGATTATT 0.423000 68 205 0 0 1 0 0 PCOLCE 5118 broad.mit.edu 37 7 100204241 100204241 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr7:100204241C>T ENST00000223061.5 + 6 1208 c.928C>T c.(928-930)Cct>Tct p.P310S NM_002593.3 NP_002584.2 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 310 multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity 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) AGAGGAATCTCCTTCAGCCCC 0.572000 30 139 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222802593 222802593 + Silent SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:222802593C>T ENST00000344922.5 + 4 2056 c.2031C>T c.(2029-2031)ctC>ctT p.L677L MIA3_ENST00000344441.6_Silent_p.L677L|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 677 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding p.L677L(1) breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) AGATAAGGCTCTCTGAGGGAG 0.488000 90 438 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32891904 32891904 + RNA SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:32891904C>T ENST00000330048.5 - 0 2819 NR_003083.2 CTGTTGATGACAGCCAGGATG 0.637000 5 352 0 0 1 0 0 FOXD4L1 200350 broad.mit.edu 37 2 114257073 114257073 + Silent SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:114257073C>T ENST00000306507.5 + 1 413 c.240C>T c.(238-240)agC>agT p.S80S NM_012184.4 NP_036316.1 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 80 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2) 26 GCGGCCCGAGCGACCCCTCAG 0.697000 6 433 0 0 1 0 0 POTEM 641455 broad.mit.edu 37 14 20019883 20019883 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr14:20019883C>T ENST00000551509.1 - 1 389 c.338G>A c.(337-339)gGc>gAc p.G113D NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 113 endometrium(4)|kidney(1)|lung(4) 9 TTTGCTCTTGCCGCTCCCCCT 0.602000 6 963 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145328417 145328417 + Missense_Mutation SNP A A G TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:145328417A>G ENST00000342960.5 + 33 4300 c.4265A>G c.(4264-4266)gAc>gGc p.D1422G NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1422 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GAAGACCAAGACCCACCATGC 0.458000 6 187 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 11 936 0 0 1 0 0 RP11-467H10.2 0 broad.mit.edu 37 7 76681019 76681019 + RNA SNP T T C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr7:76681019T>C ENST00000459742.1 + 0 58 CCCACCCCCCTCCCCCCACCC 0.517000 4 29 0 0 1 0 0 CBL 867 broad.mit.edu 37 11 119148958 119148958 + Missense_Mutation SNP T T C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:119148958T>C ENST00000264033.4 + 8 1554 c.1178T>C c.(1177-1179)aTt>aCt p.I393T NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 393 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_Q409del(13)|p.E369_Q409del(1)|p.?(1)|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) GATGTAAAGATTGAGCCCTGT 0.368000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 6 461 0 0 1 0 0 MEPCE 56257 broad.mit.edu 37 7 100030663 100030663 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr7:100030663G>A ENST00000310512.2 + 2 2181 c.1793G>A c.(1792-1794)cGc>cAc p.R598H MEPCE_ENST00000414441.1_Missense_Mutation_p.R129H NM_019606.5 NP_062552.2 Q7L2J0 MEPCE_HUMAN methylphosphate capping enzyme 598 Bin3-type SAM. methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGCCTGAAGCGCATGTTTCGC 0.592000 6 562 0 0 1 0 0 PCDHGA6 0 broad.mit.edu 37 5 140755802 140755802 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr5:140755802C>T ENST00000517434.1 + 1 2152 c.2152C>T c.(2152-2154)Cgc>Tgc p.R718C PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGACTGCAGCGCTGGCACAA 0.647000 137 553 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + RNA SNP A A T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr21:11058168A>T ENST00000470054.1 - 0 479 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TACATCTTTCAGGAGCTTGGT 0.388000 11 543 0 0 1 0 0 ANKRD12 23253 broad.mit.edu 37 18 9255365 9255365 + Silent SNP T T C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr18:9255365T>C ENST00000383440.2 + 8 2288 c.2031T>C c.(2029-2031)ttT>ttC p.F677F ANKRD12_ENST00000262126.3_Silent_p.F700F|ANKRD12_ENST00000400020.3_Silent_p.F677F NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 700 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 aagagaatttttttaaaagtg 0.279000 4 206 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65425588 65425588 + Silent SNP C C T rs139785185 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr3:65425588C>T ENST00000330909.8 - 9 1235 c.1236G>A c.(1234-1236)caG>caA p.Q412Q MAGI1_ENST00000483466.1_Silent_p.Q412Q|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000402939.2_Silent_p.Q412Q|MAGI1_ENST00000497477.2_Silent_p.Q412Q NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 412 Poly-Gln. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) gctgctgctgctgttgctgct 0.537000 OREG0015658 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 494 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91090548 91090548 + Silent SNP A A G TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chrX:91090548A>G ENST00000373094.1 + 1 890 c.45A>G c.(43-45)gcA>gcG p.A15A PCDH11X_ENST00000504220.1_Silent_p.A15A|PCDH11X_ENST00000361655.2_Silent_p.A15A|PCDH11X_ENST00000406881.1_Silent_p.A15A|PCDH11X_ENST00000373097.1_Silent_p.A15A|PCDH11X_ENST00000373088.1_Silent_p.A15A|PCDH11X_ENST00000361724.1_Silent_p.A15A|PCDH11X_ENST00000395337.2_Silent_p.A15A|PCDH11X_ENST00000298274.8_Silent_p.A15A NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 15 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TCCTGCTAGCATGCGTGGTGT 0.478000 6 208 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q179Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning 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 p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 7 299 0 0 1 0 0 NSDHL 50814 broad.mit.edu 37 X 152037520 152037520 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chrX:152037520C>T ENST00000370274.3 + 8 1176 c.982C>T c.(982-984)Cgg>Tgg p.R328W NSDHL_ENST00000440023.1_Missense_Mutation_p.R328W NM_015922.2 NP_057006.1 Q15738 NSDHL_HUMAN NAD(P) dependent steroid dehydrogenase-like 328 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) CACACCCATGCGGGTCGCACT 0.582000 4 210 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T T C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:112608394T>C ENST00000341068.3 - 14 2381 c.1609A>G c.(1609-1611)Act>Gct p.T537A NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 537 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm p.T537A(5) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GGCTTTGGAGTACTAACGCCA 0.433000 5 507 0 0 1 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44217832 44217832 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr6:44217832C>T ENST00000371554.1 + 5 803 c.589C>T c.(589-591)Cgg>Tgg p.R197W HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R197W|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R197W P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 197 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGAAGAGAGGCGGGTCAAAGA 0.433000 6 425 0 0 1 0 0 DHRS7C 201140 broad.mit.edu 37 17 9684814 9684814 + Silent SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:9684814C>T ENST00000330255.4 - 2 264 c.252G>A c.(250-252)gtG>gtA p.V84V DHRS7C_ENST00000571134.1_Silent_p.V84V NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 84 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 TGGGGTCAGCCACGCTGATCA 0.552000 47 168 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34130099 34130099 + Missense_Mutation SNP T T C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr15:34130099T>C ENST00000389232.4 + 89 11988 c.11918T>C c.(11917-11919)aTg>aCg p.M3973T RYR3_ENST00000415757.3_Missense_Mutation_p.M3968T NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3973 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) GAGAATGACATGTTTAATTAC 0.428000 142 572 0 0 1 0 0 PFKM 5213 broad.mit.edu 37 12 48536575 48536575 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr12:48536575G>A ENST00000340802.6 + 20 2101 c.1877G>A c.(1876-1878)cGc>cAc p.R626H PFKM_ENST00000395233.2_Missense_Mutation_p.R524H|PFKM_ENST00000312352.7_Missense_Mutation_p.R555H|PFKM_ENST00000551804.1_Missense_Mutation_p.R524H|PFKM_ENST00000359794.5_Missense_Mutation_p.R555H|PFKM_ENST00000547587.1_Missense_Mutation_p.R555H NM_001166686.1 NP_001160158.1 P08237 K6PF_HUMAN phosphofructokinase, muscle 555 fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis 6-phosphofructokinase complex|apical plasma membrane 6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 ACCTGTGACCGCATCAAGCAG 0.488000 7 615 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 5 439 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160261696 160261696 + Silent SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:160261696G>A ENST00000241704.7 - 30 3400 c.3171C>T c.(3169-3171)tgC>tgT p.C1057C COPA_ENST00000368069.3_Silent_p.C1066C NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 1057 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGTACTCACGGCAAATGGTGA 0.522000 OREG0013929 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 1015 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629253 1629253 + Silent SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:1629253G>A ENST00000399685.1 - 1 440 c.363C>T c.(361-363)tgC>tgT p.C121C NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 121 11 X 4 AA repeats of C-C-X-P. keratin filament p.C121C(1) endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) CACAAGAACCGCAGCCCCCCT 0.647000 8 1081 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 27 84 0 0 1 0 0 SFTPC 6440 broad.mit.edu 37 8 22019355 22019355 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr8:22019355G>A ENST00000521315.1 + 1 46 c.14G>A c.(13-15)aGc>aAc p.S5N SFTPC_ENST00000522109.1_Missense_Mutation_p.S5N|SFTPC_ENST00000524255.1_Missense_Mutation_p.S5N|SFTPC_ENST00000520605.1_Missense_Mutation_p.S5N|SFTPC_ENST00000437090.2_Missense_Mutation_p.S5N|SFTPC_ENST00000318561.3_Missense_Mutation_p.S5N P11686 PSPC_HUMAN surfactant protein C 5 respiratory gaseous exchange extracellular space autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GATGTGGGCAGCAAAGAGGTC 0.582000 6 535 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 96185760 96185760 + Missense_Mutation SNP T T G TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chrX:96185760T>G ENST00000324765.8 + 10 1354 c.1007T>G c.(1006-1008)cTt>cGt p.L336R DIAPH2_ENST00000373049.4_Missense_Mutation_p.L336R|DIAPH2_ENST00000355827.4_Missense_Mutation_p.L336R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L336R|DIAPH2_ENST00000373054.4_Missense_Mutation_p.L332R O60879 DIAP2_HUMAN diaphanous-related formin 2 336 GBD/FH3. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 ATAAATGCCCTTGTCACTTCT 0.303000 65 125 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 17 90 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154056055 154056055 + Silent SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr3:154056055G>A ENST00000389740.2 - 4 1728 c.1629C>T c.(1627-1629)tcC>tcT p.S543S NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 543 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GGGCATAACCGGAACGCTGGG 0.423000 5 585 0 0 1 0 0 TUBA1A 7846 broad.mit.edu 37 12 49579753 49579753 + Missense_Mutation SNP G G A rs1143560 byFrequency TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr12:49579753G>A ENST00000546918.1 - 3 634 c.548C>T c.(547-549)tCc>tTc p.S183F TUBA1A_ENST00000550767.1_Silent_p.L97L|TUBA1A_ENST00000301071.7_Silent_p.L132L|TUBA1A_ENST00000295766.5_Silent_p.L132L Q71U36 TBA1A_HUMAN tubulin, alpha 1a 0 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity stomach(1)|upper_aerodigestive_tract(1) 2 AGAAGCCCTGGAGACCCGTGC 0.438000 6 279 0 0 1 0 0 ZDHHC5 25921 broad.mit.edu 37 11 57466302 57466302 + Missense_Mutation SNP A A G TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:57466302A>G ENST00000287169.3 + 11 2756 c.1394A>G c.(1393-1395)aAt>aGt p.N465S ZDHHC5_ENST00000527985.1_Missense_Mutation_p.N412S NM_015457.2 NP_056272.2 Q9C0B5 ZDHC5_HUMAN zinc finger, DHHC-type containing 5 465 integral to membrane acyltransferase activity|zinc ion binding endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1) 18 CAGACACGCAATGGAAGCCTA 0.557000 48 236 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 11 243 0 0 1 0 0 CRIPAK 285464 broad.mit.edu 37 4 1388722 1388722 + Silent SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr4:1388722C>T ENST00000324803.4 + 1 3383 c.423C>T c.(421-423)tgC>tgT p.C141C NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 141 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) CTCACACGTGCCCATGCGGAG 0.697000 13 2531 0 0 1 0 0 FAM135A 57579 broad.mit.edu 37 6 71232278 71232278 + Silent SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr6:71232278C>T ENST00000418814.2 + 13 1706 c.1092C>T c.(1090-1092)taC>taT p.Y364Y FAM135A_ENST00000361499.3_Silent_p.Y364Y|FAM135A_ENST00000505769.1_Silent_p.Y364Y|FAM135A_ENST00000370479.3_Silent_p.Y347Y|FAM135A_ENST00000505868.1_Silent_p.Y364Y|FAM135A_ENST00000457062.2_Silent_p.Y347Y NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 364 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 CCATTGCATACCAGGAACTTC 0.333000 108 345 0 0 1 0 0 GFAP 2670 broad.mit.edu 37 17 42990738 42990738 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:42990738C>T ENST00000253408.5 - 4 744 c.679G>A c.(679-681)Gcc>Acc p.A227T GFAP_ENST00000586793.1_Missense_Mutation_p.A227T|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.A227T NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 227 Linker 12.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) TCTGGCTTGGCCACGTCAAGC 0.607000 5 406 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79438590 79438590 + Silent SNP T T C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:79438590T>C ENST00000376718.3 - 6 837 c.714A>G c.(712-714)ggA>ggG p.G238G PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.G238G NM_015225.2 NP_056040.2 Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 238 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTTTTATTTCTCCATCTGACA 0.373000 90 486 0 0 1 0 0 C1orf110 339512 broad.mit.edu 37 1 162824686 162824686 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:162824686G>A ENST00000367910.1 - 4 898 c.778C>T c.(778-780)Cgg>Tgg p.R260W C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367912.1_Intron NM_178550.4 NP_848645.3 Q86UF4 CA110_HUMAN chromosome 1 open reading frame 110 260 endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 ACCCTGTGCCGGAGATAATGG 0.502000 4 352 0 0 1 0 0 CEACAM4 1089 broad.mit.edu 37 19 42132119 42132119 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:42132119C>T ENST00000221954.2 - 2 390 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 94 Ig-like V-type. integral to plasma membrane|membrane fraction p.A94T(1) NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 CCACTGTATGCGGCCCCTGGG 0.488000 8 1050 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578538 7578538 + Missense_Mutation SNP T T A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:7578538T>A ENST00000420246.2 - 5 524 c.392A>T c.(391-393)aAc>aTc p.N131I TP53_ENST00000445888.2_Missense_Mutation_p.N131I|TP53_ENST00000455263.2_Missense_Mutation_p.N131I|TP53_ENST00000413465.2_Missense_Mutation_p.N131I|TP53_ENST00000359597.4_Missense_Mutation_p.N131I|TP53_ENST00000269305.4_Missense_Mutation_p.N131I NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 131 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. N -> D (in a sporadic cancer; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.N131del(8)|p.N131I(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.N131S(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.A129_N131delALN(1)|p.L130fs*16(1)|p.N131T(1)|p.N38I(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AAACATCTTGTTGAGGGCAGG 0.557000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 47 123 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541011 133541011 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:133541011C>T ENST00000409261.1 - 14 3746 c.3373G>A c.(3373-3375)Gcc>Acc p.A1125T NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1125T|NCKAP5_ENST00000409213.1_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1125 Ser-rich. protein binding p.A1125S(1) NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TGGCTTTTGGCGGGTGATGAG 0.502000 7 1036 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 17 169 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23250963 23250963 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr10:23250963G>A ENST00000298032.5 + 7 772 c.688G>A c.(688-690)Gac>Aac p.D230N ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Missense_Mutation_p.D230N|ARMC3_ENST00000409049.3_Missense_Mutation_p.D230N NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 230 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AATGCTAAGAGACAATCAAGG 0.368000 34 128 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248202246 248202246 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:248202246G>A ENST00000366479.2 + 1 773 c.677G>A c.(676-678)cGc>cAc p.R226H OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R226L(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GCTGTCTACCGCATGCACTCT 0.483000 7 778 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:21971120G>A ENST00000304494.5 - 2 508 c.238C>T c.(238-240)Cga>Tga p.R80* CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 80 R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726000 R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 21 76 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53104235 53104235 + Missense_Mutation SNP G G T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr7:53104235G>T ENST00000408890.4 + 1 887 c.871G>T c.(871-873)Gct>Tct p.A291S NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 291 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CACCCAGTCTGCTGGCCCCTT 0.607000 55 330 5.5144e-22 6.02455e-22 1 1 0 PABPC1L 80336 broad.mit.edu 37 20 43545506 43545506 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr20:43545506G>A ENST00000255136.3 + 3 579 c.497G>A c.(496-498)cGc>cAc p.R166H PABPC1L_ENST00000217074.4_Missense_Mutation_p.R166H|PABPC1L_ENST00000217073.2_Missense_Mutation_p.R166H|PABPC1L_ENST00000537323.1_Missense_Mutation_p.R166H NM_001124756.1 NP_001118228.1 Q4VXU2 PAP1L_HUMAN poly(A) binding protein, cytoplasmic 1-like 166 RRM 2. nucleotide binding|RNA binding p.R166H(1) breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 CTGAATGACCGCAAAGTGTGA 0.592000 7 448 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137593148 137593148 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:137593148G>A ENST00000371817.3 + 4 1037 c.623G>A c.(622-624)gGc>gAc p.G208D COL5A1_ENST00000464187.1_3'UTR NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 208 Laminin G-like.|TSP N-terminal. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) ATCGTGTTTGGCACCCGGATC 0.552000 8 142 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85715780 85715780 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr4:85715780G>A ENST00000322366.6 - 21 3786 c.3379C>T c.(3379-3381)Cgc>Tgc p.R1127C WDFY3_ENST00000295888.4_Missense_Mutation_p.R1127C Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1127 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TTTGCTCGGCGCACAACAGTA 0.448000 6 641 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52551596 52551596 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr3:52551596G>A ENST00000321725.6 + 44 4670 c.4594G>A c.(4594-4596)Ggg>Agg p.G1532R NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1532 EGF-like 12. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GGGTTACAGCGGGGATGGCAT 0.622000 59 270 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33954961 33954961 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr15:33954961C>T ENST00000389232.4 + 35 5300 c.5230C>T c.(5230-5232)Cgg>Tgg p.R1744W RYR3_ENST00000415757.3_Missense_Mutation_p.R1744W NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1744 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.R1744R(1) 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) TGATGATGTTCGGCAGATCCT 0.552000 63 331 0 0 1 0 0 UGT1A7 0 broad.mit.edu 37 2 234590864 234590864 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:234590864C>T ENST00000373426.3 + 1 281 c.281C>T c.(280-282)gCc>gTc p.A94V UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron NM_019077.2 NP_061950.2 NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1) 33 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) ATGGTTTTTGCCGATGCTCGC 0.438000 7 778 0 0 1 0 0 PRPF8 10594 broad.mit.edu 37 17 1576724 1576724 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:1576724C>T ENST00000572621.1 - 22 3849 c.3584G>A c.(3583-3585)cGc>cAc p.R1195H PRPF8_ENST00000304992.6_Missense_Mutation_p.R1195H Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1195 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) AGGCAGGATGCGGCACTCGAA 0.572000 5 305 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 12 1363 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228855826 228855826 + Missense_Mutation SNP G G T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:228855826G>T ENST00000392056.3 - 11 4895 c.4849C>A c.(4849-4851)Cca>Aca p.P1617T SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1588T NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1617 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) GGACACTCTGGCTCCAGGTCA 0.557000 66 260 7.82978e-24 8.59197e-24 1 1 0 CPNE4 131034 broad.mit.edu 37 3 131442441 131442441 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr3:131442441C>T ENST00000512055.1 - 7 2335 c.209G>A c.(208-210)tGc>tAc p.C70Y CPNE4_ENST00000511604.1_Missense_Mutation_p.C70Y|CPNE4_ENST00000512332.1_Missense_Mutation_p.C88Y|CPNE4_ENST00000502818.1_Missense_Mutation_p.C88Y|CPNE4_ENST00000429747.1_Missense_Mutation_p.C70Y Q96A23 CPNE4_HUMAN copine IV 70 C2 1. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TGGGTTTATGCAGGTGCGAAT 0.418000 6 724 0 0 1 0 0 NELFA 7469 broad.mit.edu 37 4 1993351 1993351 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr4:1993351G>A ENST00000382882.3 - 2 1452 c.335C>T c.(334-336)cCg>cTg p.P112L NELFA_ENST00000411638.1_Missense_Mutation_p.P101L|NELFA_ENST00000542778.1_Intron NM_005663.4 NP_005654.3 negative elongation factor complex member A GCCTGTGTCCGGAAAGGACTT 0.522000 9 1134 0 0 1 0 0 FBXW2 0 broad.mit.edu 37 9 123527025 123527025 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:123527025G>A ENST00000373926.3 - 8 1364 c.1177C>T c.(1177-1179)Cgg>Tgg p.R393W FBXW2_ENST00000340778.5_Missense_Mutation_p.R328W|FBXW2_ENST00000493559.1_Intron NM_012164.3 NP_036296.2 Q9UKT8 FBXW2_HUMAN F-box and WD repeat domain containing 2 393 proteolysis protein binding|ubiquitin-protein ligase activity ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 4 CTCTCTGTCCGCAAGTCCATG 0.517000 7 572 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20976524 20976524 + Silent SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:20976524G>A ENST00000261383.3 - 53 8681 c.8682C>T c.(8680-8682)taC>taT p.Y2894Y DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2894 Stalk (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) CCACGCGATCGTACACCTCCA 0.562000 146 656 0 0 1 0 0 ATL2 64225 broad.mit.edu 37 2 38525479 38525479 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:38525479G>A ENST00000378954.4 - 12 1440 c.1439C>T c.(1438-1440)gCg>gTg p.A480V ATL2_ENST00000419554.2_Missense_Mutation_p.A480V|ATL2_ENST00000539122.1_Missense_Mutation_p.A309V|ATL2_ENST00000332337.4_Missense_Mutation_p.A462V|ATL2_ENST00000452935.2_Missense_Mutation_p.A462V|ATL2_ENST00000402054.1_Missense_Mutation_p.A309V|ATL2_ENST00000546051.1_Missense_Mutation_p.A309V|ATL2_ENST00000406122.1_Missense_Mutation_p.A309V NM_001135673.1|NM_022374.2 NP_001129145.1|NP_071769.2 Q8NHH9 ATLA2_HUMAN atlastin GTPase 2 480 endoplasmic reticulum organization|Golgi organization|protein homooligomerization endoplasmic reticulum membrane|integral to membrane GTP binding|GTPase activity|identical protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 22 AAACATGACCGCAAACAGTGT 0.408000 6 411 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 9 285 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6714178 6714178 + Splice_Site SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:6714178G>A ENST00000245907.6 - 6 773 c.682_splice c.e6+1 p.Y227_splice NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 227 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) TCCTCTTACCGTACTCCTTCA 0.612000 5 338 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 436563 436563 + Missense_Mutation SNP T T C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr4:436563T>C ENST00000338977.5 - 2 1705 c.1657A>G c.(1657-1659)Acc>Gcc p.T553A ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.T565A|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 TGTCTAAAGGTTTTGCCACAT 0.418000 11 1484 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131487822 131487822 + Silent SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr12:131487822C>T ENST00000261654.5 + 10 1678 c.1119C>T c.(1117-1119)acC>acT p.T373T GPR133_ENST00000535015.1_Silent_p.T405T|GPR133_ENST00000376682.4_Silent_p.T59T NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 373 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CCCAGGTCACCGTGGAGGGCT 0.612000 92 354 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20727843 20727843 + Missense_Mutation SNP C C A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:20727843C>A ENST00000427401.4 - 4 1260 c.1166G>T c.(1165-1167)aGa>aTa p.R389I NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 389 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 AGTATGAATTCTCTTATGTGT 0.403000 4 111 0.000602214 0.000609588 1 1 0 TBL3 10607 broad.mit.edu 37 16 2024605 2024605 + Missense_Mutation SNP C C T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:2024605C>T ENST00000568546.1 + 5 432 c.304C>T c.(304-306)Cgc>Tgc p.R102C NM_006453.2 NP_006444.2 Q12788 TBL3_HUMAN transducin (beta)-like 3 102 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 CAGCGTTACCCGCCTGTGGAA 0.672000 51 196 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65288599 65288599 + Missense_Mutation SNP G G A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr5:65288599G>A ENST00000284037.5 + 3 442 c.53G>A c.(52-54)cGa>cAa p.R18Q ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.R18Q NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 18 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) CGCTGTCTACGAGGGGAAGAG 0.363000 87 403 0 0 1 0 0 USP2 9099 broad.mit.edu 37 11 119230302 119230302 + Missense_Mutation SNP C C A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:119230302C>A ENST00000260187.2 - 4 1188 c.894G>T c.(892-894)agG>agT p.R298S USP2_ENST00000455332.2_Missense_Mutation_p.R55S|USP2_ENST00000525735.1_Missense_Mutation_p.R89S NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 298 cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) GCATGTAGAGCCTCTGGAGGC 0.582000 4 235 0.150653 0.151878 1 1 0 ESPNP 0 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 23 57 --- --- --- --- EXTL1 2134 broad.mit.edu 37 1 26349533 26349535 + In_Frame_Del DEL CCT CCT - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:26349533_26349535delCCT ENST00000374280.3 + 1 1263_1265 c.396_398delCCT c.(394-399)tgc>tg p.CL132del NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 132 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGGCCTGCCTCCTCCTCCTC 0.606 8 354 --- --- --- --- CATSPER4 378807 broad.mit.edu 37 1 26524778 26524778 + Splice_Site DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:26524778delT ENST00000456354.2 + 6 747 c.678_splice c.e6-1 p.V227_splice NM_198137.1 NP_937770.1 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 227 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) CTCTGACAGGTTTTTTCCGTG 0.488 8 2302 --- --- --- --- RSPO1 284654 broad.mit.edu 37 1 38078467 38078469 + In_Frame_Del DEL TGC TGC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:38078467_38078469delTGC ENST00000356545.2 - 8 1537_1539 c.750_752delGCA c.(748-753)caa>ca p.QQ250del RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 250 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTGTCCCTTGCTGCTGCTGCT 0.621 7 840 --- --- --- --- DMRTB1 63948 broad.mit.edu 37 1 53930351 53930353 + In_Frame_Del DEL GCC GCC - rs75818218 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:53930351_53930353delGCC ENST00000371445.3 + 3 847_849 c.792_794delGCC c.(790-795)ctg>ct p.LP264del DMRTB1_ENST00000463126.1_3'UTR NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 264 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 GCTACTACCTgccgccgccgccg 0.670 7 367 --- --- --- --- BCL10 8915 broad.mit.edu 37 1 85736511 85736511 + Frame_Shift_Del DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:85736511delT ENST00000370580.1 - 2 873 c.136delA c.(136-138)tafs p.I46fs NM_003921.4 NP_003912.1 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 46 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding p.I46fs*4(1) haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 19 all cancers(265;0.0114)|Epithelial(280;0.0311) CTACTGAGTATTTTTTTTGCA 0.343 T IGH@ MALT 8 507 --- --- --- --- ZNF644 84146 broad.mit.edu 37 1 91406039 91406040 + Frame_Shift_Ins INS - - T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:91406039_91406040insT ENST00000370440.1 - 3 1088_1089 c.871_872insA c.(871-873)aaafs p.K291fs ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs|ZNF644_ENST00000467231.1_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TTTTCGCTTTCTTTTTTTTTCT 0.337 8 325 --- --- --- --- SLC44A3 126969 broad.mit.edu 37 1 95357932 95357932 + Frame_Shift_Del DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:95357932delT ENST00000271227.6 + 14 1818 c.1716delT c.(1714-1716)gcfs p.A572fs SLC44A3_ENST00000446120.2_Frame_Shift_Del_p.A536fs|SLC44A3_ENST00000527077.1_Frame_Shift_Del_p.A504fs|SLC44A3_ENST00000529450.1_Frame_Shift_Del_p.A539fs|SLC44A3_ENST00000467909.1_Frame_Shift_Del_p.A524fs|SLC44A3_ENST00000532427.1_Frame_Shift_Del_p.A492fs NM_001114106.2|NM_001258340.1|NM_001258341.1 NP_001107578.1|NP_001245269.1|NP_001245270.1 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 572 integral to membrane|plasma membrane choline transmembrane transporter activity p.F526fs*4(1)|p.A575fs*7(1)|p.A527fs*7(1)|p.F574fs*4(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) TATTGGTAGCTTTTTTTGCCT 0.423 7 918 --- --- --- --- NBPF14 25832 broad.mit.edu 37 1 148012532 148012532 + Frame_Shift_Del DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:148012532delT ENST00000369219.1 - 12 1443 c.1427delA c.(1426-1428)agfs p.K476fs Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 476 NBPF 5. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) GCCAACATGCTTTTCCTCCAA 0.443 7 5455 --- --- --- --- PBXIP1 57326 broad.mit.edu 37 1 154917508 154917510 + In_Frame_Del DEL GGT GGT - rs143592003 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:154917508_154917510delGGT ENST00000368463.3 - 11 2257_2259 c.2186_2188delACC c.(2185-2190)cgg>c p.HR729del PBXIP1_ENST00000539880.1_In_Frame_Del_p.HR556del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.HR574del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.HR700del NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 729 His-rich. cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGTCAGCCCCGGTGGTGGTGGTG 0.640 7 456 --- --- --- --- PRCC 5546 broad.mit.edu 37 1 156761535 156761536 + Frame_Shift_Ins INS - - C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:156761535_156761536insC ENST00000271526.4 + 4 1402_1403 c.1130_1131insC c.(1129-1131)gccfs p.A377fs PRCC_ENST00000353233.3_Intron|PRCC_ENST00000491853.1_3'UTR NM_005973.4 NP_005964.3 Q92733 PRCC_HUMAN papillary renal cell carcinoma (translocation-associated) 377 cell cycle|mitotic cell cycle checkpoint nucleus protein binding p.Q380fs*12(1) PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCGGCCCTGGTCCCCCCCCAGG 0.530 T TFE3 papillary renal 7 481 --- --- --- --- RP11-739N20.2 0 broad.mit.edu 37 1 204363980 204363980 + RNA DEL A A - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:204363980delA ENST00000443515.1 + 0 146 tttgtttttcaaaaaaaaaaa 0.308 8 38 --- --- --- --- INTS7 25896 broad.mit.edu 37 1 212115191 212115193 + In_Frame_Del DEL TGC TGC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:212115191_212115193delTGC ENST00000366994.3 - 20 2966_2968 c.2862_2864delGCA c.(2860-2865)caa>ca p.QQ954del INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_In_Frame_Del_p.QQ905del|INTS7_ENST00000366993.3_In_Frame_Del_p.QQ940del|INTS7_ENST00000366992.3_In_Frame_Del_p.QQ934del NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 954 Gln-rich. snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GGCATTGCGTTGCTGCTGCTGCT 0.443 7 817 --- --- --- --- MAP10 54627 broad.mit.edu 37 1 232940983 232940984 + Frame_Shift_Ins INS - - A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:232940983_232940984insA ENST00000418460.1 + 1 341_342 c.214_215insA c.(214-216)aaafs p.K72fs NM_019090.2 NP_061963.2 microtubule-associated protein 10 AGGTTGGTGGCAAAAAACGGCT 0.450 92 533 --- --- --- --- MTR 4548 broad.mit.edu 37 1 237024474 237024474 + Frame_Shift_Del DEL A A - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr1:237024474delA ENST00000366577.5 + 20 2487 c.2093delA c.(2092-2094)cafs p.Q698fs MTR_ENST00000535889.1_Intron NM_000254.2 NP_000245.2 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase 698 B12-binding N-terminal. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) AGGTTAAACCAAAAAAAATAT 0.308 8 452 --- --- --- --- ATP6V1C2 245973 broad.mit.edu 37 2 10917819 10917820 + Frame_Shift_Del DEL AG AG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:10917819_10917820delAG ENST00000272238.4 + 11 1043_1044 c.934_935delAG c.(934-936)afs p.R312fs ATP6V1C2_ENST00000381661.3_Intron NM_001039362.1 NP_001034451.1 Q8NEY4 VATC2_HUMAN ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 312 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) GCAGACCGACAGAGAGAGAGAG 0.604 14 539 --- --- --- --- OTOF 9381 broad.mit.edu 37 2 26693554 26693556 + In_Frame_Del DEL CTT CTT - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:26693554_26693556delCTT ENST00000272371.2 - 32 4054_4056 c.3928_3930delAAG c.(3928-3930)del p.K1310del OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 1310 Poly-Lys. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCAGTGCCcttcttcttcttc 0.576 7 458 --- --- --- --- NLRC4 58484 broad.mit.edu 37 2 32475056 32475056 + Frame_Shift_Del DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:32475056delT ENST00000404025.2 - 5 2365 c.1877delA c.(1876-1878)agfs p.K626fs NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 626 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TTCTGCAGCCTTTTCCCATGA 0.458 8 1204 --- --- --- --- CEBPZ 10153 broad.mit.edu 37 2 37454908 37454908 + Frame_Shift_Del DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:37454908delT ENST00000234170.5 - 2 1573 c.1428delA c.(1426-1428)aafs p.K476fs NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 476 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) ATTCAACATCTTTTTTTTTGA 0.368 8 300 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 7 517 --- --- --- --- ZFP36L2 678 broad.mit.edu 37 2 43452623 43452623 + Frame_Shift_Del DEL C C - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:43452623delC ENST00000282388.3 - 2 613 c.320delG c.(319-321)gcfs p.G109fs THADA_ENST00000330266.7_Intron NM_006887.4 NP_008818.3 P47974 TISD_HUMAN ZFP36 ring finger protein-like 2 109 Poly-Gly. cell proliferation nucleus DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824) TGTGCCGCCGCCCCCCGACGG 0.692 20 117 --- --- --- --- CCDC88A 55704 broad.mit.edu 37 2 55549818 55549818 + Frame_Shift_Del DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:55549818delT ENST00000436346.1 - 18 3849 c.3008delA c.(3007-3009)atfs p.N1003fs CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1003 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 AGCTTCATAATTTTTTTTCAC 0.353 7 329 --- --- --- --- XPO1 7514 broad.mit.edu 37 2 61710179 61710181 + In_Frame_Del DEL CTT CTT - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:61710179_61710181delCTT ENST00000401558.2 - 22 3450_3452 c.2723_2725delAAG c.(2722-2727)gct>g p.EA908del XPO1_ENST00000406957.1_In_Frame_Del_p.EA908del|XPO1_ENST00000404992.2_In_Frame_Del_p.EA908del|RP11-355B11.2_ENST00000578974.2_RNA NM_003400.3 NP_003391.1 O14980 XPO1_HUMAN exportin 1 (CRM1 homolog, yeast) 908 intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex protein binding|protein transporter activity|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226) TGAGCTGCAGCTTCTTCTTGTGC 0.345 Mis CLL 8 400 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 10 425 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 29 --- --- --- --- SGOL2 151246 broad.mit.edu 37 2 201437003 201437004 + Frame_Shift_Ins INS - - T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:201437003_201437004insT ENST00000357799.4 + 7 2032_2033 c.1934_1935insT c.(1933-1935)attfs p.I645fs NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 645 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AAAAAAGGTAATTTTTTTTTCA 0.337 11 586 --- --- --- --- GAL3ST2 64090 broad.mit.edu 37 2 242738494 242738496 + In_Frame_Del DEL TCC TCC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr2:242738494_242738496delTCC ENST00000192314.6 + 2 175_177 c.44_46delTCC c.(43-48)atc>a p.IL15del NM_022134.2 NP_071417.2 Q9H3Q3 G3ST2_HUMAN galactose-3-O-sulfotransferase 2 15 biosynthetic process Golgi cisterna membrane|integral to membrane galactosylceramide sulfotransferase activity p.L16I(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1) 14 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) TTCCGGGTCATCCTCCTCCTCCT 0.631 8 522 --- --- --- --- TMEM40 55287 broad.mit.edu 37 3 12790198 12790200 + In_Frame_Del DEL GAG GAG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr3:12790198_12790200delGAG ENST00000314124.7 - 3 521_523 c.165_167delCTC c.(163-168)tct>tc p.SS69del TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del|TMEM40_ENST00000435575.1_Intron NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 69 Ser-rich. integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 tgaggaggaagaggaggaggagg 0.419 8 968 --- --- --- --- RBM15B 29890 broad.mit.edu 37 3 51430822 51430824 + In_Frame_Del DEL CCA CCA - rs147738916 byFrequency TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr3:51430822_51430824delCCA ENST00000323686.4 + 1 2092_2094 c.1992_1994delCCA c.(1990-1995)ggc>gg p.GH664del NM_013286.4 NP_037418.3 Q8NDT2 RB15B_HUMAN RNA binding motif protein 15B 664 His-rich. interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|large_intestine(5)|lung(3) 12 BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGGAACGGGGCCACCACCACCAC 0.635 7 245 --- --- --- --- TMEM41A 90407 broad.mit.edu 37 3 185212517 185212518 + Frame_Shift_Ins INS - - A rs150885877 byFrequency TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr3:185212517_185212518insA ENST00000421852.1 - 4 562_563 c.467_468insT c.(466-468)tttfs p.F156fs TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR NM_080652.3 NP_542383.1 Q96HV5 TM41A_HUMAN transmembrane protein 41A 156 integral to membrane large_intestine(1)|lung(2)|skin(1) 4 all_cancers(143;7.78e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AAAACAATAAGAAAAAAAACAA 0.446 10 768 --- --- --- --- SLC51A 200931 broad.mit.edu 37 3 195955100 195955102 + In_Frame_Del DEL CTG CTG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr3:195955100_195955102delCTG ENST00000296327.5 + 5 686_688 c.477_479delCTG c.(475-480)ccc>cc p.PC159del NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit ACACAGGCCCctgctgctgctgc 0.665 12 600 --- --- --- --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cfs p.H479fs FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 7 185 --- --- --- --- FAM193A 8603 broad.mit.edu 37 4 2661593 2661593 + Frame_Shift_Del DEL C C - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr4:2661593delC ENST00000324666.5 + 8 1035 c.684delC c.(682-684)gafs p.D228fs FAM193A_ENST00000545951.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000502458.1_Frame_Shift_Del_p.D252fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.D228fs NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 228 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GTATCATGGACCCCCCCGTCA 0.522 7 541 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 8 508 --- --- --- --- SLC34A2 10568 broad.mit.edu 37 4 25678148 25678150 + In_Frame_Del DEL GCT GCT - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr4:25678148_25678150delGCT ENST00000382051.3 + 13 1900_1902 c.1850_1852delGCT c.(1849-1854)cgc>c p.RC617del SLC34A2_ENST00000503434.1_In_Frame_Del_p.RC616del|SLC34A2_ENST00000504570.1_In_Frame_Del_p.RC616del NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 617 Cys-rich. cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TTCCAGATGCgctgctgctgctg 0.640 T ROS1 NSCLC 8 313 --- --- --- --- NAP1L5 266812 broad.mit.edu 37 4 89618484 89618486 + In_Frame_Del DEL TCC TCC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr4:89618484_89618486delTCC ENST00000323061.5 - 1 900_902 c.420_422delGGA c.(418-423)gaa>ga p.EE142del HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 142 Glu-rich. nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) gtactcctcttcctcctcctcct 0.606 7 439 --- --- --- --- CXXC4 80319 broad.mit.edu 37 4 105412465 105412467 + In_Frame_Del DEL GCC GCC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr4:105412465_105412467delGCC ENST00000394767.2 - 2 943_945 c.493_495delGGC c.(493-495)del p.G165del AC004053.1_ENST00000500179.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_5'UTR NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 0 Interaction with DVL1 (By similarity). negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TGGTCCTgctgccgccgccgccg 0.695 14 512 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 9 282 --- --- --- --- SRFBP1 153443 broad.mit.edu 37 5 121356129 121356130 + Frame_Shift_Ins INS - - A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr5:121356129_121356130insA ENST00000339397.4 + 6 771_772 c.699_700insA c.(697-702)acaaaafs p.TK233fs NM_152546.2 NP_689759.2 Q8NEF9 SRFB1_HUMAN serum response factor binding protein 1 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent perinuclear region of cytoplasm central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1) 15 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517) TAAGTCAAACCAAAAAAAACAA 0.401 10 539 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 124079813 124079815 + In_Frame_Del DEL CTC CTC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr5:124079813_124079815delCTC ENST00000306315.5 - 1 1303_1305 c.868_870delGAG c.(868-870)del p.E290del ZNF608_ENST00000504926.1_Intron NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 290 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GCCTGTGGCTCTCCTCCTCCTCC 0.522 9 1095 --- --- --- --- IK 3550 broad.mit.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr5:140032593_140032594delGA ENST00000417647.2 + 5 407_408 c.268_269delGA c.(268-270)gfs p.E90fs IK_ENST00000523672.1_3'UTR NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 90 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAGAAATTGAGAGAGAGAGA 0.460 11 248 --- --- --- --- PCDHA9 0 broad.mit.edu 37 5 140230590 140230590 + Frame_Shift_Del DEL T T - rs17844337 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr5:140230590delT ENST00000378122.3 + 1 3234 c.2510delT c.(2509-2511)atfs p.I837fs PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCCAGCAGATTTTTTTTCTG 0.279 7 1181 --- --- --- --- TIMD4 91937 broad.mit.edu 37 5 156378745 156378747 + In_Frame_Del DEL TTG TTG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr5:156378745_156378747delTTG ENST00000274532.2 - 3 511_513 c.455_457delCAA c.(454-459)agc>a p.TS152del TIMD4_ENST00000407087.3_In_Frame_Del_p.TS152del NM_138379.2 NP_612388.2 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain containing 4 152 Thr-rich. integral to membrane NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2) 37 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTGGTGGGGCTTGTTGTTGTTGT 0.537 9 1696 --- --- --- --- HMMR 3161 broad.mit.edu 37 5 162917425 162917426 + Frame_Shift_Ins INS - - A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr5:162917425_162917426insA ENST00000416990.2 + 17 2144_2145 c.1647_1648insA c.(1645-1650)gcaaaafs p.AK549fs HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 663 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) GTCAGCTTGCTAAAAAAAAACA 0.307 10 424 --- --- --- --- ZNF318 24149 broad.mit.edu 37 6 43323502 43323502 + Frame_Shift_Del DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr6:43323502delT ENST00000361428.2 - 4 1647 c.1570delA c.(1570-1572)ggfs p.R526fs ZNF318_ENST00000318149.3_Frame_Shift_Del_p.R526fs NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 526 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTACGTCGCCTTTTTTCCTGT 0.493 9 1461 --- --- --- --- TRAF3IP2 10758 broad.mit.edu 37 6 111880692 111880693 + Frame_Shift_Ins INS - - T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr6:111880692_111880693insT ENST00000368761.5 - 9 2091_2092 c.1613_1614insA c.(1612-1614)aatfs p.N538fs TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2_ENST00000359831.4_Frame_Shift_Ins_p.N537fs|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000392556.4_Frame_Shift_Ins_p.N126fs|TRAF3IP2_ENST00000340026.6_Frame_Shift_Ins_p.N547fs|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2_ENST00000368735.1_Frame_Shift_Ins_p.N82fs|TRAF3IP2-AS1_ENST00000456352.2_RNA NM_001164281.2|NM_147686.3 NP_001157753.1|NP_679211.2 O43734 CIKS_HUMAN TRAF3 interacting protein 2 547 SEFIR. intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) GCAGCAGGATGTTTTTTTTATT 0.550 8 587 --- --- --- --- ARHGAP18 93663 broad.mit.edu 37 6 129959602 129959603 + Frame_Shift_Ins INS - - T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr6:129959602_129959603insT ENST00000368149.2 - 3 576_577 c.488_489insA c.(487-489)aaafs p.K163fs NM_033515.2 NP_277050.2 Q8N392 RHG18_HUMAN Rho GTPase activating protein 18 163 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) GGTACTGTTTGTTTTTTTTCCT 0.421 7 790 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755630 146755632 + In_Frame_Del DEL GAC GAC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr6:146755630_146755632delGAC ENST00000361719.2 + 9 3753_3755 c.3283_3285delGAC c.(3283-3285)del p.D1099del GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.D1099del|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1099 Asp/Glu-rich (acidic). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCGCCCGCGGACGACGACGACG 0.650 10 621 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155743925 155743926 + Frame_Shift_Del DEL CA CA - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr6:155743925_155743926delCA ENST00000159060.2 - 10 1312_1313 c.1210_1211delTG c.(1210-1212)cfs p.C404fs NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 404 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGCGGCAACGCACACACACACT 0.530 7 655 --- --- --- --- SYNJ2 8871 broad.mit.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr6:158508009delC ENST00000355585.4 + 23 3406 c.3331delC c.(3331-3333)ccfs p.P1114fs SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367121.3_Frame_Shift_Del_p.P1114fs|SYNJ2_ENST00000367112.1_Frame_Shift_Del_p.P199fs NM_001178088.1|NM_003898.3 NP_001171559.1|NP_003889.1 O15056 SYNJ2_HUMAN synaptojanin 2 1114 Pro-rich. nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding p.P1113fs*5(1) biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05) CCCGCAGAGACCCCCCCCTCC 0.637 8 239 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 14 199 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65226569 65226569 + RNA DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr7:65226569delT ENST00000442266.1 + 0 1167 gcccggccCCttttttttttt 0.413 7 28 --- --- --- --- GS1-124K5.2 0 broad.mit.edu 37 7 65888987 65888988 + RNA INS - - T rs77289928 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr7:65888987_65888988insT ENST00000442578.1 - 0 826 Ctttttttttcttttttttttt 0.485 13 27 --- --- --- --- C7orf55-LUC7L2 0 broad.mit.edu 37 7 139094365 139094366 + Frame_Shift_Del DEL AG AG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr7:139094365_139094366delAG ENST00000354926.4 + 7 1098_1099 c.744_745delAG c.(742-747)gaagfs p.EE248fs C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs NM_016019.3 NP_057103.2 AACGAAGAGAAGAGAGAGAGAG 0.391 7 144 --- --- --- --- TRBV7-4 0 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 13 367 --- --- --- --- RBM33 155435 broad.mit.edu 37 7 155531073 155531074 + Frame_Shift_Del DEL CA CA - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr7:155531073_155531074delCA ENST00000401878.3 + 11 1911_1912 c.1713_1714delCA c.(1711-1716)cccafs p.PT571fs NM_053043.2 NP_444271.2 Q96EV2 RBM33_HUMAN RNA binding motif protein 33 571 Pro-rich. nucleotide binding|RNA binding breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 27 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.2) CGTTTCTGCCCACACACACACA 0.530 12 350 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22020159 22020161 + In_Frame_Del DEL GTG GTG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr8:22020159_22020161delGTG ENST00000521315.1 + 2 147_149 c.115_117delGTG c.(115-117)del p.V44del SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000520605.1_Intron P11686 PSPC_HUMAN surfactant protein C 44 respiratory gaseous exchange extracellular space autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CCTTCTTATCGTGGTGGTGGTGG 0.601 11 731 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr8:30945377_30945379delAAG ENST00000298139.5 + 12 1766_1768 c.1517_1519delAAG c.(1516-1521)aaa>a p.KE506del NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 506 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTCCTACTAaagaagaagaaga 0.360 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 7 420 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. 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) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 8 1798 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20413952 20413952 + Frame_Shift_Del DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:20413952delT ENST00000380338.4 - 5 1178 c.892delA c.(892-894)ggfs p.R298fs MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) CTCTTTTTCCTTTTTTTGGCT 0.393 T MLL ALL 9 836 --- --- --- --- TAF1L 138474 broad.mit.edu 37 9 32633584 32633584 + Frame_Shift_Del DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:32633584delT ENST00000242310.4 - 1 2083 c.1994delA c.(1993-1995)agfs p.K665fs RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 665 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.K665fs*4(2) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CATCTTGGCCTTTTTTTTGAT 0.478 13 682 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906584 35906586 + In_Frame_Del DEL CCA CCA - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:35906584_35906586delCCA ENST00000354323.2 + 1 396_398 c.300_302delCCA c.(298-303)ctc>ct p.LH100del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 100 His-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 ctcaccacctccaccaccaccac 0.660 14 145 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95277146 95277148 + In_Frame_Del DEL TCC TCC - rs137929518 byFrequency TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:95277146_95277148delTCC ENST00000344604.5 - 4 968_970 c.819_821delGGA c.(817-822)gat>ga p.ED273del CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 273 Poly-Glu. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 ctcctcctcatcctcctcctcct 0.606 18 802 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 19 55 --- --- --- --- NR4A3 0 broad.mit.edu 37 9 102590616 102590618 + In_Frame_Del DEL CAC CAC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:102590616_102590618delCAC ENST00000330847.1 + 2 369_371 c.325_327delCAC c.(325-327)del p.H119del NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del|NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 108 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) ccatcaccatcaccaccaccacc 0.616 T EWSR1 extraskeletal myxoid chondrosarcoma 19 285 --- --- --- --- TTF1 7270 broad.mit.edu 37 9 135277201 135277202 + Frame_Shift_Ins INS - - T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:135277201_135277202insT ENST00000334270.2 - 2 1046_1047 c.1007_1008insA c.(1006-1008)aaafs p.K336fs NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 336 Poly-Lys. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) TGGACTTTTTCTTTTTTTTCTT 0.510 11 751 --- --- --- --- CEL 1056 broad.mit.edu 37 9 135941982 135941982 + Frame_Shift_Del DEL G G - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:135941982delG ENST00000372080.4 + 5 629 c.613delG c.(613-615)ggfs p.G206fs CEL_ENST00000351304.7_Frame_Shift_Del_p.G203fs NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 203 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CGCGGCCTTCGGGGGGGACCC 0.642 8 1041 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139390945 139390947 + In_Frame_Del DEL GTG GTG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:139390945_139390947delGTG ENST00000277541.6 - 34 7319_7321 c.7244_7246delCAC c.(7243-7248)cag>c p.PQ2415del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2415 Poly-Pro. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.Q2417*(2)|p.P2416fs*11(1) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGGTGCGGCTGTGGTGGTGGTGG 0.650 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 11 347 --- --- --- --- RABL6 55684 broad.mit.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:139734633_139734635delAGA ENST00000371675.3 + 14 2498_2500 c.1613_1615delAGA c.(1612-1617)gag>g p.EK538del RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del RAB, member RAS oncogene family-like 6 CCCTCTaaggagaagaagaagaa 0.571 10 357 --- --- --- --- GRIN1 2902 broad.mit.edu 37 9 140056884 140056886 + In_Frame_Del DEL GAG GAG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr9:140056884_140056886delGAG ENST00000371561.3 + 13 2877_2879 c.1780_1782delGAG c.(1780-1782)del p.E598del GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del|GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del|GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del|GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 598 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GGTGAACAGCGAGGAGGAGGAGG 0.739 8 235 --- --- --- --- ARID5B 84159 broad.mit.edu 37 10 63852298 63852298 + Frame_Shift_Del DEL A A - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr10:63852298delA ENST00000279873.7 + 10 3486 c.3076delA c.(3076-3078)aafs p.K1027fs ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K784fs NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 1027 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) GATTGCAGGGAAAAAGGCCCG 0.607 7 776 --- --- --- --- DNA2 1763 broad.mit.edu 37 10 70182520 70182521 + Frame_Shift_Ins INS - - A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr10:70182520_70182521insA ENST00000399180.2 - 15 2592_2593 c.2593_2594insT c.(2593-2595)acgfs p.T865fs DNA2_ENST00000399179.2_Intron|DNA2_ENST00000358410.3_Frame_Shift_Ins_p.T779fs P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 779 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base p.S779fs*6(1)|p.S865fs*6(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 AAATCTCCGTGAAAAAAAAAGG 0.406 9 210 --- --- --- --- PRF1 5551 broad.mit.edu 37 10 72358622 72358624 + In_Frame_Del DEL CTT CTT - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr10:72358622_72358624delCTT ENST00000441259.1 - 3 1013_1015 c.853_855delAAG c.(853-855)del p.K285del PRF1_ENST00000373209.2_In_Frame_Del_p.K285del NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 285 MACPF. Missing (in FHL2). apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 TCATCTTGTGCTTCTTCTTCTTC 0.591 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 8 436 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr10:81072446delC ENST00000334512.5 + 25 3716 c.3144delC c.(3142-3144)gafs p.D1048fs ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1048 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTTATCTGGACCCCCCCGACC 0.557 9 1209 --- --- --- --- ABCC2 1244 broad.mit.edu 37 10 101558978 101558979 + Frame_Shift_Ins INS - - A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr10:101558978_101558979insA ENST00000370449.4 + 8 995_996 c.882_883insA c.(880-885)aaaaaafs p.KK294fs NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 294 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity p.K294N(1) NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) ATGTTGAAAAGAAAAAAAAGAA 0.441 7 909 --- --- --- --- LZTS2 84445 broad.mit.edu 37 10 102763415 102763417 + In_Frame_Del DEL CCT CCT - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr10:102763415_102763417delCCT ENST00000370220.1 + 2 3623_3625 c.560_562delCCT c.(559-564)gcc>g p.AS187del LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 187 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGGGGCCCTGcctcctcctcctc 0.650 8 1156 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 11 1021 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46829683 46829683 + Frame_Shift_Del DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:46829683delT ENST00000529230.1 - 8 922 c.876delA c.(874-876)aafs p.K292fs CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 292 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TCTCTTGCCATTTTTTTGCCT 0.363 8 1134 --- --- --- --- KBTBD4 55709 broad.mit.edu 37 11 47599139 47599139 + Frame_Shift_Del DEL A A - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:47599139delA ENST00000533290.1 - 1 1202 c.488delT c.(487-489)tgfs p.L163fs KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L154fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000525720.1_Frame_Shift_Del_p.L187fs|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L138fs|KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L138fs Q9NVX7 KBTB4_HUMAN kelch repeat and BTB (POZ) domain containing 4 138 BACK. NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 24 TGTGCGGGCCAAAAACCGAGA 0.517 7 945 --- --- --- --- FAM111B 374393 broad.mit.edu 37 11 58892377 58892377 + Frame_Shift_Del DEL A A - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:58892377delA ENST00000343597.3 + 4 998 c.807delA c.(805-807)tcfs p.S269fs FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111, member B 269 catalytic activity p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1) 40 TGGACATTTCAAAAAAAAAAG 0.313 21 268 --- --- --- --- RPLP0P2 0 broad.mit.edu 37 11 61405017 61405019 + RNA DEL CTG CTG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:61405017_61405019delCTG ENST00000496593.1 + 0 1621_1623 NR_002775.2 acagctgctcctgctgctgctgc 0.557 7 197 --- --- --- --- NLRX1 79671 broad.mit.edu 37 11 119050548 119050548 + Frame_Shift_Del DEL C C - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:119050548delC ENST00000409109.1 + 7 2405 c.1818delC c.(1816-1818)ggfs p.G606fs NLRX1_ENST00000409991.1_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000525863.1_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000292199.2_Frame_Shift_Del_p.G606fs|NLRX1_ENST00000409265.4_Frame_Shift_Del_p.G606fs Q86UT6 NLRX1_HUMAN NLR family member X1 606 Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 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) GCGTGGAGGGCCCCCGGCGCC 0.612 7 926 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119535678 119535680 + In_Frame_Del DEL CCT CCT - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr11:119535678_119535680delCCT ENST00000264025.3 - 6 1861_1863 c.1331_1333delAGG c.(1330-1335)ggc>g p.EG444del PVRL1_ENST00000341398.2_Intron NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 444 Poly-Glu. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity p.E444fs*>73(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) CCTCCACCGCcctcctcctcctc 0.660 8 231 --- --- --- --- SCAF11 9169 broad.mit.edu 37 12 46318575 46318577 + In_Frame_Del DEL GGT GGT - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr12:46318575_46318577delGGT ENST00000465950.1 - 2 4104_4106 c.2895_2897delACC c.(2893-2898)ccc>cc p.PP969del SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 1284 Arg-rich. spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TGGGGGAGGGGGTGGTGGTGGTG 0.483 11 494 --- --- --- --- DGKA 1606 broad.mit.edu 37 12 56347514 56347514 + Frame_Shift_Del DEL C C - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr12:56347514delC ENST00000331886.5 + 24 2624 c.2170delC c.(2170-2172)ccfs p.P725fs DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Del_p.P725fs|DGKA_ENST00000551156.1_Frame_Shift_Del_p.P725fs NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 725 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) CATGGGCCCACCCCCCCGCTC 0.582 7 613 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56559113 56559113 + Frame_Shift_Del DEL G G - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr12:56559113delG ENST00000394023.3 - 27 3326 c.3221delC c.(3220-3222)ctfs p.P1074fs SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000267064.4_Frame_Shift_Del_p.P1043fs|SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.P1074fs|RP11-977G19.5_ENST00000553176.1_RNA NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1043 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) ATGGGGTCCAGGGGGGGGAAC 0.577 9 569 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AGCAGGAAGTtgctgctgctgct 0.576 8 450 --- --- --- --- RFC3 5983 broad.mit.edu 37 13 34398063 34398063 + Frame_Shift_Del DEL A A - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr13:34398063delA ENST00000380071.3 + 3 365 c.235delA c.(235-237)aafs p.K81fs RFC3_ENST00000434425.1_Frame_Shift_Del_p.K81fs NM_002915.3 NP_002906.1 P40938 RFC3_HUMAN replication factor C (activator 1) 3, 38kDa 81 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding lung(2)|skin(1) 3 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) GACTCCATCTAAAAAAAAAAT 0.269 11 137 --- --- --- --- DIAPH3 81624 broad.mit.edu 37 13 60582733 60582734 + Frame_Shift_Ins INS - - T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr13:60582733_60582734insT ENST00000400324.4 - 9 1178_1179 c.958_959insA c.(958-960)tgafs p.*320fs DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.*250fs|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.*274fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.*320fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.*309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.*320fs NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 320 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) AAATCTGTCAATTTTTTTTTCT 0.322 9 639 --- --- --- --- ERCC5 2073 broad.mit.edu 37 13 103524612 103524612 + Frame_Shift_Del DEL A A - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr13:103524612delA ENST00000355739.4 + 13 4166 c.2743delA c.(2743-2745)aafs p.K917fs BIVM-ERCC5_ENST00000602836.1_Frame_Shift_Del_p.1340fs|ERCC5_ENST00000375954.1_Frame_Shift_Del_p.K150fs NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CACCAAAGTGAAAAAAAAATT 0.428 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 9 335 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 10 779 --- --- --- --- BAZ1A 11177 broad.mit.edu 37 14 35331422 35331423 + Frame_Shift_Ins INS - - T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr14:35331422_35331423insT ENST00000360310.1 - 3 786_787 c.219_220insA c.(217-222)aacaagfs p.NK73fs BAZ1A_ENST00000382422.2_Frame_Shift_Ins_p.NK73fs|BAZ1A_ENST00000358716.4_Frame_Shift_Ins_p.NK73fs|BAZ1A_ENST00000553853.1_5'UTR NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 73 Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC. chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TTCTGTCTTGCTTTTTTTTCTG 0.426 11 916 --- --- --- --- PTPN21 11099 broad.mit.edu 37 14 88940113 88940113 + Frame_Shift_Del DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr14:88940113delT ENST00000556564.1 - 14 2829 c.2545delA c.(2545-2547)ttfs p.I849fs PTPN21_ENST00000328736.3_Frame_Shift_Del_p.I849fs NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 849 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 AGAGGACCAATTTTTTTTGCA 0.393 8 519 --- --- --- --- RMDN3 55177 broad.mit.edu 37 15 41029893 41029894 + Frame_Shift_Ins INS - - T TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr15:41029893_41029894insT ENST00000260385.6 - 9 2223_2224 c.1156_1157insA c.(1156-1158)tgcfs p.C386fs RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.C386fs|RMDN3_ENST00000558560.1_5'UTR regulator of microtubule dynamics 3 GGCTGTAGCAGTTTTTTTTTCT 0.450 8 402 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65943128 65943130 + In_Frame_Del DEL GAG GAG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr15:65943128_65943130delGAG ENST00000261892.6 + 7 2928_2930 c.2641_2643delGAG c.(2641-2643)del p.E890del SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 890 Poly-Glu. response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 gcaggaggaagaggaggaggagg 0.562 10 178 --- --- --- --- POLG 5428 broad.mit.edu 37 15 89876828 89876830 + In_Frame_Del DEL TGC TGC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr15:89876828_89876830delTGC ENST00000268124.5 - 2 489_491 c.156_158delGCA c.(154-159)caa>ca p.QQ54del POLG_ENST00000442287.2_In_Frame_Del_p.QQ54del NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 54 Poly-Gln. base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) aggctgctgttgctgctgctgct 0.690 DNA polymerases (catalytic subunits) 7 130 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1824298 1824300 + In_Frame_Del DEL TGC TGC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:1824298_1824300delTGC ENST00000307394.7 + 3 422_424 c.422_424delTGC c.(421-426)ttg>t p.LL143del EME2_ENST00000568449.1_In_Frame_Del_p.LL143del A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 143 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 GAACAGGAATTGCTGCTGCTGCT 0.655 Direct reversal of damage;Homologous recombination 8 541 --- --- --- --- NAGPA 51172 broad.mit.edu 37 16 5083678 5083679 + Frame_Shift_Del DEL GC GC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:5083678_5083679delGC ENST00000312251.3 - 2 156_157 c.137_138delGC c.(136-138)cfs p.R46fs NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 46 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) CCCGGGGGAGGCGCGCGCGCGC 0.767 7 165 --- --- --- --- TVP23A 780776 broad.mit.edu 37 16 10867202 10867203 + Frame_Shift_Ins INS - - A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:10867202_10867203insA ENST00000299866.8 - 5 711_712 c.420_421insT c.(418-423)ttgcacfs p.LH140fs TVP23A_ENST00000572980.1_5'UTR NM_001079512.2 NP_001072980.1 trans-golgi network vesicle protein 23 homolog A (S. cerevisiae) AATAAGGTGCTAAAAAAAAACA 0.446 12 322 --- --- --- --- NPIPA1 9284 broad.mit.edu 37 16 15045828 15045829 + Frame_Shift_Del DEL GT GT - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:15045828_15045829delGT ENST00000328085.6 + 8 999_1000 c.999_1000delGT c.(997-1002)gagtfs p.EC333fs NPIPA1_ENST00000472413.1_3'UTR NM_006985.2 NP_008916.2 nuclear pore complex interacting protein family, member A1 CACCTCCCGAGTGTGTCTGCTC 0.455 8 1228 --- --- --- --- NPIPA5 100288332 broad.mit.edu 37 16 15457565 15457566 + Frame_Shift_Del DEL AC AC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:15457565_15457566delAC ENST00000360151.4 - 8 1002_1003 c.1003_1004delGT c.(1003-1005)cfs p.V335fs NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GAGTGAGCAGACACACTCGGGA 0.446 8 199 --- --- --- --- ATP2A1 487 broad.mit.edu 37 16 28913639 28913640 + Frame_Shift_Ins INS - - C TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:28913639_28913640insC ENST00000395503.4 + 17 2640_2641 c.2456_2457insC c.(2455-2457)cccfs p.P819fs ATP2A1_ENST00000536376.1_Frame_Shift_Ins_p.P694fs|ATP2A1_ENST00000357084.3_Frame_Shift_Ins_p.P819fs NM_004320.4 NP_004311.1 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 819 apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 ATCATGGACCGCCCCCCCCGGA 0.658 10 836 --- --- --- --- IRX6 79190 broad.mit.edu 37 16 55362674 55362676 + In_Frame_Del DEL GAG GAG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:55362674_55362676delGAG ENST00000290552.7 + 5 2116_2118 c.784_786delGAG c.(784-786)del p.E268del RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCTggaggaagaggaggaggagg 0.626 12 420 --- --- --- --- FHOD1 29109 broad.mit.edu 37 16 67267852 67267852 + Frame_Shift_Del DEL G G - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:67267852delG ENST00000258201.4 - 13 2001 c.1754delC c.(1753-1755)ctfs p.P587fs FHOD1_ENST00000567687.1_Frame_Shift_Del_p.P166fs NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 587 FH1.|Poly-Pro. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding p.P585fs*43(1) breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) AAGTGGGGGAGGGGGGGGTAC 0.622 7 174 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 12 325 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67913767 67913769 + In_Frame_Del DEL CAG CAG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:67913767_67913769delCAG ENST00000358933.5 + 16 2075_2077 c.1836_1838delCAG c.(1834-1839)ccc>cc p.PS612del NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 612 Ser-rich. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTGCCTCTCCcagcagcagcagc 0.611 7 458 --- --- --- --- NPIPB15 440348 broad.mit.edu 37 16 74425400 74425402 + In_Frame_Del DEL CAA CAA - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:74425400_74425402delCAA ENST00000429990.1 + 7 850_852 c.754_756delCAA c.(754-756)del p.Q253del nuclear pore complex interacting protein family, member B15 TCCTCCAACTCAACAACATTCTA 0.517 7 674 --- --- --- --- TCF25 22980 broad.mit.edu 37 16 89951019 89951020 + Frame_Shift_Ins INS - - A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr16:89951019_89951020insA ENST00000263346.8 + 3 440_441 c.384_385insA c.(382-387)aaaaaafs p.KK128fs TCF25_ENST00000563406.1_3'UTR NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 128 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) TCCGGAAGAAGAAAAAAAAACA 0.446 7 141 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 10 1171 --- --- --- --- TOB1 10140 broad.mit.edu 37 17 48940610 48940612 + In_Frame_Del DEL GTG GTG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:48940610_48940612delGTG ENST00000499247.2 - 2 1200_1202 c.767_769delCAC c.(766-771)cag>c p.PQ256del TOB1_ENST00000268957.3_In_Frame_Del_p.PQ256del NM_001243885.1|NM_005749.3 NP_001230814.1|NP_005740.1 P50616 TOB1_HUMAN transducer of ERBB2, 1 256 Poly-Pro. negative regulation of cell proliferation SH3/SH2 adaptor activity breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) tgttgctgctgtggtggtggtgg 0.517 8 268 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56056587 56056589 + In_Frame_Del DEL TGT TGT - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:56056587_56056589delTGT ENST00000584396.1 - 5 1123_1125 c.1035_1037delACA c.(1033-1038)cat>ca p.QH345del VEZF1_ENST00000581208.1_In_Frame_Del_p.QH354del Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 354 Poly-Gln. cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 GCTTGTCACAtgttgttgttgtt 0.473 42 1184 --- --- --- --- SRP68 6730 broad.mit.edu 37 17 74068528 74068530 + In_Frame_Del DEL GCC GCC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:74068528_74068530delGCC ENST00000307877.2 - 1 204_206 c.43_45delGGC c.(43-45)del p.G15del SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 15 Poly-Gly. Missing (in Ref. 1). response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 cgccgccactgccgccgccgccg 0.709 8 364 --- --- --- --- TNRC6C 57690 broad.mit.edu 37 17 76046980 76046980 + Frame_Shift_Del DEL A A - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:76046980delA ENST00000335749.4 + 3 2406 c.1837delA c.(1837-1839)aafs p.K614fs TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 614 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GGGGGATGGGAAAAAAAATGG 0.522 9 499 --- --- --- --- SLC26A11 284129 broad.mit.edu 37 17 78201649 78201651 + In_Frame_Del DEL TGC TGC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr17:78201649_78201651delTGC ENST00000361193.3 + 7 906_908 c.626_628delTGC c.(625-630)atg>a p.ML209del SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 209 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CTGGTCTGCATGCTGCTGCTGCT 0.675 8 658 --- --- --- --- THOC1 9984 broad.mit.edu 37 18 225118 225119 + Frame_Shift_Ins INS - - G TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr18:225118_225119insG ENST00000261600.6 - 14 1114_1115 c.1107_1108insC c.(1105-1110)ccatggfs p.W370fs NM_005131.2 NP_005122.2 Q96FV9 THOC1_HUMAN THO complex 1 370 apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex DNA binding|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 20 all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412) CTTTCTCCATCGGGGGGGTTTT 0.386 7 56 --- --- --- --- DSC1 1823 broad.mit.edu 37 18 28725666 28725666 + Frame_Shift_Del DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr18:28725666delT ENST00000257197.3 - 7 1108 c.847delA c.(847-849)tcfs p.I283fs DSC1_ENST00000257198.5_Frame_Shift_Del_p.I283fs|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 283 Cadherin 2. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TGTTGTAAGATTTTATATTTC 0.413 95 365 --- --- --- --- CXXC1 30827 broad.mit.edu 37 18 47812275 47812277 + In_Frame_Del DEL CTG CTG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr18:47812275_47812277delCTG ENST00000285106.6 - 5 1195_1197 c.481_483delCAG c.(481-483)del p.Q161del CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del|CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 161 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 ACCGTTTGATctgctgctgctgc 0.557 9 228 --- --- --- --- C19orf26 255057 broad.mit.edu 37 19 1231033 1231034 + Frame_Shift_Ins INS - - G TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:1231033_1231034insG ENST00000590083.1 - 9 1512_1513 c.1220_1221insC c.(1219-1221)cagfs p.Q407fs C19orf26_ENST00000215376.6_Frame_Shift_Ins_p.Q401fs|C19orf26_ENST00000382477.2_Intron Q8N350 DOS_HUMAN chromosome 19 open reading frame 26 437 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGCCGCCTAGGGGGGGGCGA 0.708 HNSCC(14;0.022) 7 247 --- --- --- --- MBD3 53615 broad.mit.edu 37 19 1578372 1578374 + In_Frame_Del DEL CTC CTC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:1578372_1578374delCTC ENST00000590550.2 - 5 1046_1048 c.673_675delGAG c.(673-675)del p.E225del MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del O95983 MBD3_HUMAN methyl-CpG binding domain protein 3 281 transcription, DNA-dependent NuRD complex DNA binding|protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 8 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18) CCGGGTCGGGctcctcctcctcc 0.714 7 252 --- --- --- --- DENND1C 79958 broad.mit.edu 37 19 6477251 6477251 + Frame_Shift_Del DEL G G - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:6477251delG ENST00000381480.2 - 8 603 c.491delC c.(490-492)ctfs p.P164fs DENND1C_ENST00000543576.1_Frame_Shift_Del_p.P120fs|DENND1C_ENST00000591030.1_5'UTR NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 164 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 CCCCCGGGTAGGGGGGGGGAT 0.672 8 233 --- --- --- --- TNFSF9 8744 broad.mit.edu 37 19 6531149 6531151 + In_Frame_Del DEL GCT GCT - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:6531149_6531151delGCT ENST00000245817.3 + 1 140_142 c.102_104delGCT c.(100-105)ggg>gg p.GL34del NM_003811.3 NP_003802.1 P41273 TNFL9_HUMAN tumor necrosis factor (ligand) superfamily, member 9 34 apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 5 TGGTCGCGGGgctgctgctgctg 0.768 11 391 --- --- --- --- SH2D3A 10045 broad.mit.edu 37 19 6755179 6755180 + Frame_Shift_Ins INS - - G rs139813452 byFrequency TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:6755179_6755180insG ENST00000245908.6 - 5 912_913 c.643_644insC c.(643-645)gacfs p.D215fs SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Frame_Shift_Ins_p.D93fs 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 7 1340 --- --- --- --- RETN 56729 broad.mit.edu 37 19 7734228 7734230 + In_Frame_Del DEL CTC CTC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:7734228_7734230delCTC ENST00000221515.2 + 2 104_106 c.16_18delCTC c.(16-18)del p.L9del RETN_ENST00000381324.2_In_Frame_Del_p.L9del NM_001193374.1|NM_020415.3 NP_001180303.1|NP_065148.1 Q9HD89 RETN_HUMAN resistin 9 hormone activity ovary(1) 1 AGCTCTCTGTCTCCTCCTCCTCC 0.596 7 1027 --- --- --- --- CTC-260E6.6 0 broad.mit.edu 37 19 20359846 20359847 + RNA DEL GT GT - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:20359846_20359847delGT ENST00000593655.1 - 0 199 TTAAGTAAAGGTGTGTGTGTGT 0.421 9 333 --- --- --- --- WDR88 126248 broad.mit.edu 37 19 33666419 33666421 + In_Frame_Del DEL TCA TCA - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:33666419_33666421delTCA ENST00000355868.3 + 11 1436_1438 c.1360_1362delTCA c.(1360-1362)del p.S458del WDR88_ENST00000361680.2_3'UTR NM_173479.3 NP_775750.3 Q6ZMY6 WDR88_HUMAN WD repeat domain 88 458 Poly-Ser. breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) TACTTCATCGTCATCATCATCAT 0.527 9 833 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:38882864_38882866delCCT ENST00000587013.1 + 3 569_571 c.491_493delCCT c.(490-495)ccc>c p.PS164del SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del|SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 120 multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCACTCAccccctcctcctcctc 0.645 10 179 --- --- --- --- ERF 2077 broad.mit.edu 37 19 42753149 42753151 + In_Frame_Del DEL GAA GAA - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:42753149_42753151delGAA ENST00000222329.4 - 4 1270_1272 c.1113_1115delTTC c.(1111-1116)tcc>tc p.SS371del AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_In_Frame_Del_p.SS296del NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 371 Poly-Ser. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) GAATGGGGAGGAAGAAGAAGAAG 0.680 7 842 --- --- --- --- SIGLEC16 400709 broad.mit.edu 37 19 50474857 50474861 + RNA DEL GACGC GACGC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:50474857_50474861delGACGC ENST00000602139.1 + 0 998 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 CAGTCTCCAGGACGCTTCCCTTTGC 0.566 15 348 --- --- --- --- TMC4 147798 broad.mit.edu 37 19 54675747 54675749 + In_Frame_Del DEL TCC TCC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr19:54675747_54675749delTCC ENST00000376591.4 - 2 332_334 c.201_203delGGA c.(199-204)gat>ga p.ED67del TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 67 Poly-Glu. integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTTCCTCCATCCTCCTCCTCCT 0.645 7 600 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000461789.1_3'UTR|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 306 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) ggaggaggaagaggaggaggagg 0.532 11 397 --- --- --- --- ZNF337 26152 broad.mit.edu 37 20 25657231 25657232 + Frame_Shift_Del DEL TG TG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr20:25657231_25657232delTG ENST00000376436.1 - 4 1231_1232 c.692_693delCA c.(691-693)afs p.T231fs RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTTCTCTCCTGTGTGTGTGTT 0.510 7 505 --- --- --- --- TIAM1 7074 broad.mit.edu 37 21 32508274 32508274 + Frame_Shift_Del DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr21:32508274delT ENST00000286827.3 - 24 4331 c.3860delA c.(3859-3861)agfs p.K1287fs TIAM1_ENST00000541036.1_Frame_Shift_Del_p.K1227fs NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1287 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 CTCTGGTTCCTTTTTCCACTT 0.483 8 687 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18842473 18842473 + RNA DEL G G - rs66618606 TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chr22:18842473delG ENST00000412938.1 + 0 2208 AGCTGCTGGTGGGGAGGTCTT 0.647 8 19 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 8 320 --- --- --- --- XIST 0 broad.mit.edu 37 X 73072090 73072091 + RNA INS - - A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chrX:73072090_73072091insA ENST00000429829.1 - 0 497_498 NR_001564.2 ATGGGCTAAGGAAAAAAAAATA 0.465 7 64 --- --- --- --- ZDHHC15 158866 broad.mit.edu 37 X 74649035 74649036 + Splice_Site INS - - A TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chrX:74649035_74649036insA ENST00000541184.1 - 6 933 c.e6-2 ZDHHC15_ENST00000373367.3_Splice_Site|ZDHHC15_ENST00000373361.3_Intron NM_001146256.1 NP_001139728.1 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 integral to membrane zinc ion binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2) 26 TTATTAACCCTAAAAAAAAAGA 0.366 7 202 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chrX:135585048_135585050delAAG ENST00000535601.1 + 6 1104_1106 c.682_684delAAG c.(682-684)del p.K232del HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 232 Poly-Lys. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TGATGCCTCAAAGAAGAAGAAGA 0.335 7 288 --- --- --- --- MAMLD1 10046 broad.mit.edu 37 X 149639325 149639327 + In_Frame_Del DEL CAG CAG - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chrX:149639325_149639327delCAG ENST00000370401.2 + 4 1790_1792 c.1480_1482delCAG c.(1480-1482)del p.Q502del MAMLD1_ENST00000455522.2_5'UTR|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q502del|MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q477del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q477del Q13495 MAMD1_HUMAN mastermind-like domain containing 1 502 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2) 37 Acute lymphoblastic leukemia(192;6.56e-05) AAGCcagcaacagcagcagcagc 0.532 11 260 --- --- --- --- F8 2157 broad.mit.edu 37 X 154157686 154157686 + Frame_Shift_Del DEL T T - TCGA-HV-A7OL-01A-11D-A33T-08 TCGA-HV-A7OL-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0760de9f-10f1-43db-a96a-7c82c37d4cf3 306b21fa-27e2-44ab-8b5b-583be65a9182 g.chrX:154157686delT ENST00000360256.4 - 14 4579 c.4379delA c.(4378-4380)atfs p.N1461fs NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1461 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.N1460fs*5(2)|p.N1460fs*2(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGAAAGGTTATTTTTTTTGGC 0.413 8 419 --- --- --- ---