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 RPS6KA3 6197 broad.mit.edu 37 X 20195168 20195168 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:20195168C>T ENST00000379565.3 - 11 1087 c.880G>A c.(880-882)Gaa>Aaa p.E294K RPS6KA3_ENST00000544447.1_Missense_Mutation_p.E266K|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.E266K|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.E265K NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 294 Protein kinase 1. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 CTCTGCGCTTCAGGACTCAAA 0.299000 37 90 0 0 1 0 0 CCDC173 129881 broad.mit.edu 37 2 170502583 170502583 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:170502583C>T ENST00000447353.1 - 9 1532 c.1427G>A c.(1426-1428)aGa>aAa p.R476K NM_001085447.1 NP_001078916.1 coiled-coil domain containing 173 AATTACCTCTCTGGCATAGTC 0.393000 74 116 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52703213 52703213 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:52703213C>A ENST00000287727.3 + 4 296 c.124C>A c.(124-126)Ccc>Acc p.P42T ZFYVE9_ENST00000371591.1_Missense_Mutation_p.P42T|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.P42T O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 42 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 GATTCTAGATCCCCCTTCTCA 0.383000 27 88 4.40665e-25 4.91157e-25 1 1 0 ZNF773 374928 broad.mit.edu 37 19 58018640 58018640 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:58018640G>T ENST00000282292.4 + 4 1317 c.1177G>T c.(1177-1179)Ggg>Tgg p.G393W ZNF773_ENST00000598770.1_Missense_Mutation_p.G392W|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron NM_198542.1 NP_940944.1 Q6PK81 ZN773_HUMAN zinc finger protein 773 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) CAATGAATGTGGGAGATTCTT 0.418000 19 185 8.00594e-06 8.37103e-06 1 1 0 CLEC14A 161198 broad.mit.edu 37 14 38723989 38723989 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:38723989C>G ENST00000342213.2 - 1 1585 c.1239G>C c.(1237-1239)ttG>ttC p.L413F NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 413 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CTGTCATGGTCAAGATCACCA 0.537000 6 21 0 0 1 0 0 FNDC3B 64778 broad.mit.edu 37 3 172062049 172062049 + Splice_Site SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:172062049G>A ENST00000336824.4 + 19 2349 c.e19+1 FNDC3B_ENST00000416957.1_Splice_Site|FNDC3B_ENST00000415807.2_Splice_Site NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TGATGGAGGGGTGAGTATAAG 0.512000 14 62 0 0 1 0 0 DDX39A 10212 broad.mit.edu 37 19 14520163 14520163 + Silent SNP G G A rs141070619 byFrequency TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:14520163G>A ENST00000242776.4 - 9 1172 c.1071C>T c.(1069-1071)atC>atT p.I357I NM_005804.3 NP_005795.2 O00148 DX39A_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A 357 Helicase C-terminal. mRNA export from nucleus|nuclear mRNA splicing, via spliceosome nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1) 11 AGTTAAAGACGATGTTGACTC 0.612000 15 45 0 0 1 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105360810 105360810 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:105360810C>G ENST00000297581.2 + 2 79 c.30C>G c.(28-30)atC>atG p.I10M DCSTAMP_ENST00000517991.1_Missense_Mutation_p.I10M|DPYS_ENST00000521601.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 10 osteoclast differentiation cell surface|integral to membrane|plasma membrane GCACTGATATCTTCCTAAGTC 0.448000 13 68 0 0 1 0 0 ESR2 2100 broad.mit.edu 37 14 64701857 64701857 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:64701857G>C ENST00000557772.1 - 7 1236 c.1237C>G c.(1237-1239)Ctg>Gtg p.L413V ESR2_ENST00000553796.1_Missense_Mutation_p.L413V|ESR2_ENST00000357782.2_Missense_Mutation_p.L413V|ESR2_ENST00000341099.4_Missense_Mutation_p.L413V|ESR2_ENST00000554572.1_Missense_Mutation_p.L413V|ESR2_ENST00000353772.3_Missense_Mutation_p.L413V|ESR2_ENST00000555278.1_Missense_Mutation_p.L413V|ESR2_ENST00000542956.1_Missense_Mutation_p.L413V|ESR2_ENST00000267525.6_Missense_Mutation_p.L322V|ESR2_ENST00000358599.5_Missense_Mutation_p.L413V|ESR2_ENST00000555483.1_5'UTR NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 413 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) GCTGTGACCAGAGGGTACATA 0.557000 6 23 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95604759 95604759 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:95604759G>C ENST00000343958.4 - 2 524 c.301C>G c.(301-303)Cag>Gag p.Q101E FGD6_ENST00000546711.1_Missense_Mutation_p.Q101E|FGD6_ENST00000549499.1_Missense_Mutation_p.Q101E NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 101 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 TCATTGCTCTGATTGCCTTCA 0.398000 28 142 0 0 1 0 0 ZNF483 158399 broad.mit.edu 37 9 114304657 114304657 + Missense_Mutation SNP C C T rs149958964 byFrequency TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:114304657C>T ENST00000309235.5 + 6 1600 c.1442C>T c.(1441-1443)tCg>tTg p.S481L ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 481 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 GATAGTTCATCGCTCACACCA 0.418000 3 42 0 0 1 0 0 SLC17A7 57030 broad.mit.edu 37 19 49933880 49933880 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:49933880C>T ENST00000221485.3 - 12 1750 c.1579G>A c.(1579-1581)Gag>Aag p.E527K SLC17A7_ENST00000600601.1_Missense_Mutation_p.E460K|SLC17A7_ENST00000543531.1_Missense_Mutation_p.E515K NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 527 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) GGCTCAGCCTCATCCTCCATT 0.667000 24 43 0 0 1 0 0 GPR63 81491 broad.mit.edu 37 6 97247334 97247334 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:97247334G>C ENST00000229955.3 - 2 619 c.274C>G c.(274-276)Ctg>Gtg p.L92V GPR63_ENST00000417980.1_Missense_Mutation_p.L92V NM_001143957.2|NM_030784.3 NP_001137429.1|NP_110411.1 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 92 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) GACACAAACAGAATGAATATC 0.438000 6 43 0 0 1 0 0 RUSC1 23623 broad.mit.edu 37 1 155291799 155291799 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:155291799C>T ENST00000368352.5 + 2 386 c.235C>T c.(235-237)Ccg>Tcg p.P79S RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.P79S NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 79 cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) GGAGCACGGTCCGGGCCTAGA 0.667000 10 14 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138768692 138768692 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:138768692G>A ENST00000242351.5 - 3 847 c.531C>T c.(529-531)ttC>ttT p.F177F ZC3HAV1_ENST00000464606.1_Silent_p.F177F|ZC3HAV1_ENST00000471652.1_Silent_p.F177F NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 177 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 TCCCTCGGGTGAAGTGGTCAC 0.542000 8 37 0 0 1 0 0 USP3 9960 broad.mit.edu 37 15 63882911 63882911 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr15:63882911C>G ENST00000268049.7 + 16 1707 c.1383C>G c.(1381-1383)ttC>ttG p.F461L USP3-AS1_ENST00000560962.1_RNA|USP3_ENST00000559711.1_Missense_Mutation_p.F394L|USP3-AS1_ENST00000558831.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.F439L|USP3-AS1_ENST00000559737.1_RNA|USP3_ENST00000380324.3_Missense_Mutation_p.F483L|USP3_ENST00000558285.1_Missense_Mutation_p.F466L|USP3_ENST00000539772.1_Missense_Mutation_p.F234L|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000561256.1_RNA|USP3_ENST00000558218.1_3'UTR Q9Y6I4 UBP3_HUMAN ubiquitin specific peptidase 3 483 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(3)|large_intestine(7)|lung(4) 14 GBM - Glioblastoma multiforme(80;0.0187) GCCGCTGGTTCCACTTCAATG 0.473000 5 101 0 0 1 0 0 OR6N1 128372 broad.mit.edu 37 1 158736082 158736082 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:158736082G>A ENST00000335094.2 - 1 410 c.391C>T c.(391-393)Cac>Tac p.H131Y NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) GTTGGGTAGTGGAGGGGCCGG 0.512000 6 34 0 0 1 0 0 CXCL9 4283 broad.mit.edu 37 4 76926031 76926031 + Missense_Mutation SNP A A T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:76926031A>T ENST00000264888.5 - 3 245 c.207T>A c.(205-207)aaT>aaA p.N69K RP11-630D6.5_ENST00000501239.2_RNA NM_002416.1 NP_002407.1 Q07325 CXCL9_HUMAN chemokine (C-X-C motif) ligand 9 69 cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response extracellular space chemokine activity large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1) 11 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTTGAACTCCATTCTTCAGTG 0.323000 9 46 0 0 1 0 0 PNLDC1 154197 broad.mit.edu 37 6 160222187 160222187 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:160222187G>C ENST00000610273.1 + 3 315 c.144G>C c.(142-144)caG>caC p.Q48H PNLDC1_ENST00000392167.3_Missense_Mutation_p.Q59H|PNLDC1_ENST00000609334.1_3'UTR NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) AGACCCGTCAGAGTGTTCAGC 0.413000 25 155 0 0 1 0 0 OR51D1 390038 broad.mit.edu 37 11 4661542 4661542 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:4661542C>T ENST00000357605.2 + 1 598 c.522C>T c.(520-522)ttC>ttT p.F174F NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CACTGCCCTTCATCCTCAAGT 0.507000 18 57 0 0 1 0 0 TRMT2B 79979 broad.mit.edu 37 X 100296327 100296327 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:100296327C>T ENST00000338687.7 - 4 1087 c.282G>A c.(280-282)ttG>ttA p.L94L TRMT2B_ENST00000545398.1_Silent_p.L94L|TRMT2B_ENST00000372939.1_Silent_p.L94L|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372931.5_Silent_p.L94L|TRMT2B_ENST00000372935.1_Silent_p.L94L|TRMT2B_ENST00000372936.3_Silent_p.L94L Q96GJ1 TRM2_HUMAN tRNA methyltransferase 2 homolog B (S. cerevisiae) 94 tRNA (uracil-5-)-methyltransferase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 24 CTTCATAGCTCAACCTCCAGA 0.433000 17 35 0 0 1 0 0 KCNC4 3749 broad.mit.edu 37 1 110765807 110765807 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:110765807C>G ENST00000369787.3 + 2 927 c.900C>G c.(898-900)atC>atG p.I300M KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.I300M|KCNC4_ENST00000438661.2_Missense_Mutation_p.I300M NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 300 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) TGGTGCGCATCGTGTGCTGCC 0.607000 6 89 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10933880 10933880 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr21:10933880G>A ENST00000298232.7 - 16 1312 c.945C>T c.(943-945)atC>atT p.I315I TPTE_ENST00000361285.4_Silent_p.I333I|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.I295I NM_199259.2 NP_954868 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 333 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.I333I(1)|p.I315I(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) GAATCGCTACGATGTTTTCAA 0.313000 23 89 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089781 9089781 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:9089781G>C ENST00000397910.4 - 1 2237 c.2034C>G c.(2032-2034)gtC>gtG p.V678V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 678 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTCAGGGATGACAGAAGAAA 0.522000 31 46 0 0 1 0 0 CKB 1152 broad.mit.edu 37 14 103988660 103988660 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:103988660G>A ENST00000348956.2 - 2 528 c.171C>T c.(169-171)atC>atT p.I57I NM_001823.4 NP_001814.2 P12277 KCRB_HUMAN creatine kinase, brain 57 Phosphagen kinase N-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity lung(2)|prostate(1) 3 Melanoma(154;0.155) Epithelial(46;0.14) Creatine(DB00148) CGCCTGTCTGGATGACGTCGT 0.736000 6 9 0 0 1 0 0 LECT2 3950 broad.mit.edu 37 5 135290515 135290515 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:135290515G>C ENST00000274507.1 - 1 208 c.8C>G c.(7-9)tCc>tGc p.S3C LECT2_ENST00000522943.1_Missense_Mutation_p.S3C|LECT2_ENST00000514447.2_Missense_Mutation_p.S3C NM_002302.2 NP_002293.2 O14960 LECT2_HUMAN leukocyte cell-derived chemotaxin 2 3 chemotaxis|skeletal system development cytoplasm|extracellular space large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGCTTTGGTGGAAAACATCTG 0.373000 8 40 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66201676 66201676 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:66201676C>T ENST00000273854.3 - 16 3426 c.2826G>A c.(2824-2826)ctG>ctA p.L942L EPHA5_ENST00000354839.4_Silent_p.L920L|EPHA5_ENST00000511294.1_Silent_p.L943L|EPHA5_ENST00000432638.2_Silent_p.L779L NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 942 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CCAGCGTCTTCAGACTACTTG 0.413000 TSP Lung(17;0.13) 11 82 0 0 1 0 0 BPIFA3 128861 broad.mit.edu 37 20 31814242 31814242 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr20:31814242C>G ENST00000375454.3 + 5 777 c.567C>G c.(565-567)ctC>ctG p.L189L BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Silent_p.L153L NM_178466.3 NP_848561.2 Q9BQP9 SPLC3_HUMAN BPI fold containing family A, member 3 189 extracellular region lipid binding ATCAGTTTCTCTACAACCTCA 0.423000 39 86 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161914 90161914 + RNA SNP T T C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:90161914T>C ENST00000567960.1 + 0 650 TUBB8P7_ENST00000564451.1_RNA ACCCTAAAACTGCCCACACCC 0.527000 6 22 0 0 1 0 0 NPEPPS 9520 broad.mit.edu 37 17 45669349 45669349 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:45669349G>C ENST00000322157.4 + 11 1525 c.1288G>C c.(1288-1290)Gat>Cat p.D430H NPEPPS_ENST00000544660.1_Missense_Mutation_p.D350H|NPEPPS_ENST00000530173.1_Missense_Mutation_p.D426H|NPEPPS_ENST00000525037.1_3'UTR NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 430 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 ATCTGAGGTTGATGAGATATT 0.388000 4 35 0 0 1 0 0 ATAD3B 83858 broad.mit.edu 37 1 1418033 1418033 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:1418033G>C ENST00000378741.3 + 7 911 c.285G>C c.(283-285)gaG>gaC p.E95D ATAD3B_ENST00000308647.7_Intron|ATAD3B_ENST00000378736.3_3'UTR Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 0 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) AGGTGGCTGAGAGGCAGCATG 0.587000 4 80 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76735876 76735876 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:76735876G>C ENST00000287239.4 + 8 2270 c.1781G>C c.(1780-1782)aGa>aCa p.R594T KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372725.1_Intron NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 594 Negatively regulates HAT activity. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding AGAGATATTAGAAGTCGGTTT 0.428000 15 44 0 0 1 0 0 U2AF1 7307 broad.mit.edu 37 21 44514877 44514877 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr21:44514877C>T ENST00000459639.1 - 5 1175 c.151G>A c.(151-153)Gaa>Aaa p.E51K U2AF1_ENST00000398137.1_Missense_Mutation_p.E51K|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.E124K|U2AF1_ENST00000291552.4_Missense_Mutation_p.E124K Q01081 U2AF1_HUMAN U2 small nuclear RNA auxiliary factor 1 124 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 126 ACAGCCTTTTCCGCATCTTCC 0.473000 Mis """CLL, MDS""" 6 34 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41800466 41800466 + Nonsense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:41800466G>A ENST00000396930.3 - 15 2824 c.2281C>T c.(2281-2283)Cag>Tag p.Q761* KAT6A_ENST00000406337.1_Nonsense_Mutation_p.Q761*|KAT6A_ENST00000265713.2_Nonsense_Mutation_p.Q761*|KAT6A_ENST00000485568.1_Nonsense_Mutation_p.Q761* NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 761 Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding AAATTCAGCTGAAGCTTTGCC 0.453000 6 127 0 0 1 0 0 NRBP2 340371 broad.mit.edu 37 8 144919309 144919309 + Nonsense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:144919309G>A ENST00000442628.2 - 14 1304 c.1165C>T c.(1165-1167)Cga>Tga p.R389* NRBP2_ENST00000327830.5_Nonsense_Mutation_p.R146* NM_178564.3 NP_848659.2 Q9NSY0 NRBP2_HUMAN nuclear receptor binding protein 2 389 negative regulation of neuron apoptosis|neuron differentiation cytoplasm ATP binding|protein kinase activity central_nervous_system(2)|kidney(1)|large_intestine(2) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CCCAGGGGTCGAGTGGCTGCA 0.627000 17 21 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144865880 144865880 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:144865880G>C ENST00000369359.4 - 38 6146 c.6108C>G c.(6106-6108)ctC>ctG p.L2036L PDE4DIP_ENST00000530740.1_Silent_p.L1985L|PDE4DIP_ENST00000369354.3_Silent_p.L1900L|PDE4DIP_ENST00000369356.4_Silent_p.L1900L|PDE4DIP_ENST00000313382.9_Silent_p.L1794L|PDE4DIP_ENST00000524974.1_5'UTR Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1900 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCTCATTGCAGAGCTGAGGTA 0.468000 T PDGFRB MPD 121 406 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70347966 70347966 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:70347966G>T ENST00000333646.6 + 22 3404 c.3205G>T c.(3205-3207)Gat>Tat p.D1069Y MED12_ENST00000374080.3_Missense_Mutation_p.D1069Y|MED12_ENST00000374102.1_Missense_Mutation_p.D1069Y NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1069 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CCATGATCCCGATAGGTATGG 0.537000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 17 67 3.52763e-06 3.69653e-06 1 1 0 GLI2 2736 broad.mit.edu 37 2 121746705 121746705 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:121746705C>T ENST00000452319.1 + 14 3275 c.3215C>T c.(3214-3216)gCg>gTg p.A1072V GLI2_ENST00000361492.4_Missense_Mutation_p.A1072V|GLI2_ENST00000314490.11_Missense_Mutation_p.A744V P10070 GLI2_HUMAN GLI family zinc finger 2 1072 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TACATCAAGGCGCACGCCAGT 0.697000 10 45 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123021988 123021988 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:123021988G>A ENST00000462833.1 - 14 3850 c.2638C>T c.(2638-2640)Cac>Tac p.H880Y ADCY5_ENST00000309879.5_Missense_Mutation_p.H530Y|ADCY5_ENST00000491190.1_Missense_Mutation_p.H513Y NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 880 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) TCCGCCACGTGACACGCGTTG 0.642000 10 25 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198682129 198682129 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:198682129C>G ENST00000367376.2 + 12 1384 c.1213C>G c.(1213-1215)Caa>Gaa p.Q405E PTPRC_ENST00000352140.3_Missense_Mutation_p.Q357E|PTPRC_ENST00000442510.2_Missense_Mutation_p.Q407E|PTPRC_ENST00000594404.1_Missense_Mutation_p.Q244E|PTPRC_ENST00000348564.6_Missense_Mutation_p.Q246E NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 405 Fibronectin type-III 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AGCTGCACATCAAGGAGTAAT 0.318000 33 94 0 0 1 0 0 FRMD3 257019 broad.mit.edu 37 9 85913689 85913689 + Silent SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:85913689G>T ENST00000304195.3 - 12 1250 c.1044C>A c.(1042-1044)atC>atA p.I348I FRMD3_ENST00000376438.1_Silent_p.I348I|FRMD3_ENST00000376434.1_Silent_p.I154I NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 348 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 GCTCCCTCTGGATCTTGGAAC 0.493000 5 28 0.217242 0.217694 1 1 0 S1PR5 53637 broad.mit.edu 37 19 10624718 10624718 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:10624718C>T ENST00000439028.3 - 2 1095 c.970G>A c.(970-972)Gga>Aga p.G324R S1PR5_ENST00000333430.4_Missense_Mutation_p.G324R NM_001166215.1 NP_001159687.1 Q9H228 S1PR5_HUMAN sphingosine-1-phosphate receptor 5 324 integral to membrane|plasma membrane lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 12 GAGTGGCGTCCGCAGCAGACC 0.701000 5 40 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24310125 24310125 + Missense_Mutation SNP A A C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:24310125A>C ENST00000357002.4 + 4 1438 c.1323A>C c.(1321-1323)aaA>aaC p.K441N ZNF254_ENST00000342944.6_Missense_Mutation_p.K356N NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 441 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) AATGTGGCAAAGCATTTATCT 0.368000 9 40 0 0 1 0 0 PRSS35 167681 broad.mit.edu 37 6 84233890 84233890 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:84233890G>A ENST00000536636.1 + 3 1075 c.730G>A c.(730-732)Gaa>Aaa p.E244K PRSS35_ENST00000369700.3_Missense_Mutation_p.E244K NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 244 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GAGGATTGCCGAAGGGAGGCC 0.567000 4 23 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28229527 28229527 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:28229527G>C ENST00000305242.5 - 13 2043 c.1951C>G c.(1951-1953)Cca>Gca p.P651A ARMC4_ENST00000537576.1_Missense_Mutation_p.P343A|ARMC4_ENST00000545014.1_Missense_Mutation_p.P176A NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 651 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CCCACCACTGGAATTAGCATG 0.468000 23 33 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577058 7577058 + Nonsense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:7577058C>A ENST00000420246.2 - 8 1012 c.880G>T c.(880-882)Gag>Tag p.E294* TP53_ENST00000445888.2_Nonsense_Mutation_p.E294*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E294*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E294*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E294* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 294 Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E294*(46)|p.E294fs*51(9)|p.K291fs*48(8)|p.0?(8)|p.E294K(3)|p.E294fs*12(3)|p.?(2)|p.E294Q(2)|p.L265_K305del41(1)|p.E294>*(1)|p.G293fs*1(1)|p.R290fs*50(1)|p.R290_P295>X(1)|p.E294fs*11(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) TGGTGAGGCTCCCCTTTCTTG 0.567000 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) 21 19 1.2644e-06 1.32638e-06 1 1 0 BUB3 9184 broad.mit.edu 37 10 124919978 124919978 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:124919978G>C ENST00000368865.4 + 5 682 c.473G>C c.(472-474)aGa>aCa p.R158T BUB3_ENST00000368858.5_Missense_Mutation_p.R158T|BUB3_ENST00000538238.1_Missense_Mutation_p.R78T|BUB3_ENST00000368859.2_Intron NM_004725.3 NP_004716.1 O43684 BUB3_HUMAN BUB3 mitotic checkpoint protein 158 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle condensed chromosome kinetochore|cytosol|nucleus protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 9 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) GCAGGCCGCAGAGTGTTGGTG 0.498000 16 53 0 0 1 0 0 NXNL2 158046 broad.mit.edu 37 9 91150561 91150561 + Nonsense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:91150561C>G ENST00000375855.3 + 1 542 c.212C>G c.(211-213)tCa>tGa p.S71* NXNL2_ENST00000375854.3_Nonsense_Mutation_p.S71*|NXNL2_ENST00000487646.2_3'UTR NM_145283.2 NP_660326.2 Q5VZ03 NXNL2_HUMAN nucleoredoxin-like 2 71 Thioredoxin. lung(3) 3 GTCTTCGTGTCAGCCGACGGC 0.701000 6 16 0 0 1 0 0 BST1 683 broad.mit.edu 37 4 15707257 15707257 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:15707257G>A ENST00000382346.3 + 3 402 c.353G>A c.(352-354)aGa>aAa p.R118K BST1_ENST00000265016.4_Missense_Mutation_p.R103K Q10588 BST1_HUMAN bone marrow stromal cell antigen 1 103 humoral immune response|multicellular organismal development anchored to membrane|extrinsic to membrane|plasma membrane binding|NAD+ nucleosidase activity central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1) 8 TCTATTCCCAGAGATAAGGTA 0.488000 50 38 0 0 1 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23381743 23381743 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:23381743C>T ENST00000258729.3 - 10 1499 c.1143G>A c.(1141-1143)ggG>ggA p.G381G NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 381 anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 GAGGTGGCATCCCTGAAGTGG 0.493000 4 23 0 0 1 0 0 FTO 79068 broad.mit.edu 37 16 53860020 53860020 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:53860020C>T ENST00000471389.1 + 3 590 c.368C>T c.(367-369)tCt>tTt p.S123F FTO_ENST00000394647.3_Intron NM_001080432.2 NP_001073901.1 Q9C0B1 FTO_HUMAN fat mass and obesity associated 123 Fe2OG dioxygenase domain. DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 GTGAAAGGGTCTAATATAAAA 0.502000 11 18 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103899030 103899030 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:103899030C>T ENST00000278070.2 + 5 804 c.765C>T c.(763-765)ttC>ttT p.F255F PPRC1_ENST00000413464.2_Silent_p.F255F NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) TGGCCAGCTTCAGTGGCCAGA 0.582000 14 35 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62290314 62290314 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:62290314G>T ENST00000378024.4 - 5 11849 c.11575C>A c.(11575-11577)Ccc>Acc p.P3859T AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3859 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTGAATTTGGGACCTTTCAAC 0.478000 42 184 6.68952e-21 7.39611e-21 1 1 0 SMURF1 57154 broad.mit.edu 37 7 98633248 98633248 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:98633248C>T ENST00000361125.1 - 17 2298 c.1979G>A c.(1978-1980)cGg>cAg p.R660Q SMURF1_ENST00000361368.2_Missense_Mutation_p.R634Q|AC004893.11_ENST00000468960.2_RNA|AC004893.11_ENST00000360902.1_RNA NM_020429.2 NP_065162.1 Q9HCE7 SMUF1_HUMAN SMAD specific E3 ubiquitin protein ligase 1 660 HECT. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1) 25 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) CCAGAACCACCGCACGATGTT 0.577000 5 19 0 0 1 0 0 OR4D11 219986 broad.mit.edu 37 11 59271959 59271959 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:59271959G>C ENST00000313253.1 + 1 911 c.911G>C c.(910-912)aGa>aCa p.R304T NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 CTGAAGAGAAGACTCGTGCCT 0.522000 14 30 0 0 1 0 0 FUT2 2524 broad.mit.edu 37 19 49207215 49207215 + Silent SNP C C T rs144809245 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:49207215C>T ENST00000425340.2 + 2 1119 c.1002C>T c.(1000-1002)gcC>gcT p.A334A FUT2_ENST00000391876.4_Silent_p.A334A NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 334 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) CAGGGATTGCCGCAGACCTGT 0.552000 13 49 0 0 1 0 0 LRRC8E 80131 broad.mit.edu 37 19 7964331 7964331 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:7964331C>G ENST00000306708.6 + 3 1025 c.924C>G c.(922-924)ctC>ctG p.L308L AC010336.1_ENST00000539278.1_3'UTR NM_001268284.1|NM_001268285.1|NM_025061.4 NP_001255213.1|NP_001255214.1|NP_079337.2 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member E 308 integral to membrane breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10) 35 AGGCCCACCTCTTCTCCAAGC 0.557000 5 24 0 0 1 0 0 C1orf56 54964 broad.mit.edu 37 1 151020727 151020727 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:151020727C>T ENST00000368926.5 + 1 512 c.404C>T c.(403-405)tCc>tTc p.S135F NM_017860.3 NP_060330.2 Q9BUN1 CA056_HUMAN chromosome 1 open reading frame 56 135 extracellular region endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GCGGGGAGTTCCAGCACGAGG 0.577000 36 32 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182399633 182399633 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:182399633C>G ENST00000397033.2 + 27 3404 c.2974C>G c.(2974-2976)Ctt>Gtt p.L992V NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 992 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ACTTATTGTACTTCTATTGAT 0.343000 28 81 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8390433 8390433 + Silent SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:8390433C>A ENST00000471889.1 + 5 1265 c.880C>A c.(880-882)Cgg>Agg p.R294R SLC45A1_ENST00000377479.2_Silent_p.R328R|SLC45A1_ENST00000289877.8_Silent_p.R294R Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 294 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GAGGCCGCTGCGGCCGCCGAG 0.697000 17 35 1.5739e-10 1.68594e-10 1 1 0 PDE1C 5137 broad.mit.edu 37 7 31918760 31918760 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:31918760C>T ENST00000396184.3 - 5 478 c.274G>A c.(274-276)Gac>Aac p.D92N PDE1C_ENST00000321453.7_Missense_Mutation_p.D92N|PDE1C_ENST00000396182.2_Missense_Mutation_p.D92N|PDE1C_ENST00000396191.1_Missense_Mutation_p.D92N|PDE1C_ENST00000396193.1_Missense_Mutation_p.D152N NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 92 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) GACTGAATGTCACTGAGCTCA 0.527000 5 33 0 0 1 0 0 IFI44 10561 broad.mit.edu 37 1 79116319 79116319 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:79116319G>C ENST00000370747.4 + 2 524 c.439G>C c.(439-441)Gaa>Caa p.E147Q IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron NM_006417.4 NP_006408.3 Q8TCB0 IFI44_HUMAN interferon-induced protein 44 147 response to virus cytoplasm central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 TCAGGATTATGAAGTTTTTCG 0.338000 10 38 0 0 1 0 0 TLDC1 57707 broad.mit.edu 37 16 84520349 84520349 + Silent SNP G G C rs150857959 byFrequency TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:84520349G>C ENST00000343629.6 - 5 1028 c.846C>G c.(844-846)ctC>ctG p.L282L TLDC1_ENST00000535580.1_Silent_p.L255L NM_020947.3 NP_065998.3 TBC/LysM-associated domain containing 1 TGTGGCCACAGAGCTGGGAGA 0.597000 9 31 0 0 1 0 0 AHRR 57491 broad.mit.edu 37 5 428077 428077 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:428077G>C ENST00000316418.5 + 9 974 c.930G>C c.(928-930)ctG>ctC p.L310L AHRR_ENST00000506456.1_Silent_p.L148L|AHRR_ENST00000505113.1_Silent_p.L292L|AHRR_ENST00000512529.1_Silent_p.L138L NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 292 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) GCGCGCTCCTGAGGGCAAAAC 0.637000 5 11 0 0 1 0 0 HELQ 113510 broad.mit.edu 37 4 84374572 84374572 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:84374572C>T ENST00000295488.3 - 2 986 c.824G>A c.(823-825)gGa>gAa p.G275E HELQ_ENST00000510985.1_Missense_Mutation_p.G275E NM_133636.2 NP_598375 Q8TDG4 HELQ_HUMAN helicase, POLQ-like 275 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 CTTCGCATTTCCAGTCATGGC 0.378000 Other identified genes with known or suspected DNA repair function 49 93 0 0 1 0 0 OSBPL2 9885 broad.mit.edu 37 20 60861760 60861760 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr20:60861760C>G ENST00000313733.3 + 11 1320 c.1118C>G c.(1117-1119)tCt>tGt p.S373C OSBPL2_ENST00000439951.2_Missense_Mutation_p.S281C|OSBPL2_ENST00000358053.2_Missense_Mutation_p.S361C NM_144498.1 NP_653081.1 Q9H1P3 OSBL2_HUMAN oxysterol binding protein-like 2 373 lipid transport lipid binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;1.33e-06) CCCCCCAACTCTGCCCAGGTC 0.657000 11 51 0 0 1 0 0 DDX26B 203522 broad.mit.edu 37 X 134681100 134681100 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:134681100C>A ENST00000370752.4 + 6 986 c.652C>A c.(652-654)Caa>Aaa p.Q218K DDX26B_ENST00000481908.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 218 VWFA. large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) AATGTTGAATCAATGTTTAGA 0.328000 53 128 4.25531e-23 4.72649e-23 1 1 0 OR52K1 390036 broad.mit.edu 37 11 4510814 4510814 + Silent SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:4510814C>A ENST00000307632.3 + 1 706 c.684C>A c.(682-684)ctC>ctA p.L228L NM_001005171.2 NP_001005171.2 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, member 1 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) AGGCAGTTCTCCAGCTTGCCT 0.488000 30 125 3.69857e-22 4.09864e-22 1 1 0 FRMPD4 9758 broad.mit.edu 37 X 12736650 12736650 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:12736650G>A ENST00000380682.1 + 16 4211 c.3705G>A c.(3703-3705)gtG>gtA p.V1235V NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 1235 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 CCACACCCGTGGAGTCGCCGC 0.597000 32 92 0 0 1 0 0 MATK 4145 broad.mit.edu 37 19 3789324 3789324 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:3789324C>T ENST00000395045.2 - 2 359 c.22G>A c.(22-24)Gaa>Aaa p.E8K MATK_ENST00000590821.1_5'UTR NM_002378.3 NP_002369.2 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 0 cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) tctcttcgttcagcagggaaa 0.498000 7 21 0 0 1 0 0 DNAJC3 5611 broad.mit.edu 37 13 96438198 96438198 + Nonsense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr13:96438198C>T ENST00000602402.1 + 10 1198 c.1081C>T c.(1081-1083)Cag>Tag p.Q361* DNAJC3_ENST00000376795.6_Nonsense_Mutation_p.Q310* NM_006260.4 NP_006251.1 Q13217 DNJC3_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 3 361 protein folding|response to unfolded protein|response to virus heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding p.D362_Q367delDYETAQ(1) NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.126) GACAGCTATTCAGGATTATGA 0.343000 7 23 0 0 1 0 0 POTEG 404785 broad.mit.edu 37 14 19553704 19553704 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:19553704C>A ENST00000409832.3 + 1 340 c.288C>A c.(286-288)agC>agA p.S96R NM_001005356.2 NP_001005356.1 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 96 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 CACTCAGGAGCAAGATGGGCA 0.617000 12 235 1.96292e-10 2.098e-10 1 1 0 OSBPL3 26031 broad.mit.edu 37 7 24932039 24932039 + Nonsense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:24932039G>C ENST00000313367.2 - 2 504 c.53C>G c.(52-54)tCa>tGa p.S18* OSBPL3_ENST00000396431.1_Nonsense_Mutation_p.S18*|OSBPL3_ENST00000431825.2_Nonsense_Mutation_p.S18*|OSBPL3_ENST00000352860.1_Nonsense_Mutation_p.S18*|OSBPL3_ENST00000353930.1_Nonsense_Mutation_p.S18*|OSBPL3_ENST00000396429.1_Nonsense_Mutation_p.S18*|OSBPL3_ENST00000409069.1_Nonsense_Mutation_p.S18* NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 18 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TGTGCTCCTTGAAGGTGATAC 0.423000 12 46 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179498774 179498774 + Missense_Mutation SNP T T C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:179498774T>C ENST00000589042.1 - 231 42676 c.42452A>G c.(42451-42453)cAa>cGa p.Q14151R TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q11583R|TTN_ENST00000342175.6_Missense_Mutation_p.Q5278R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q5211R|TTN_ENST00000460472.2_Missense_Mutation_p.Q5086R|TTN_ENST00000591111.1_Missense_Mutation_p.Q12510R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12510 Fibronectin type-III 2. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTTACTGTTTGATCTTCAAG 0.353000 30 52 0 0 1 0 0 TRIM54 57159 broad.mit.edu 37 2 27505742 27505742 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:27505742G>A ENST00000296098.4 + 1 413 c.143G>A c.(142-144)cGc>cAc p.R48H TRIM54_ENST00000380075.2_Missense_Mutation_p.R48H NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 48 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding p.R32H(1) cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AACCTGTGCCGCAAATGTGCC 0.587000 4 297 0 0 1 0 0 HIST1H2AL 8332 broad.mit.edu 37 6 27833414 27833414 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:27833414C>T ENST00000357320.2 + 1 381 c.282C>T c.(280-282)ctC>ctT p.L94L NM_003511.2 NP_003502.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2al 94 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2) 9 ACGAGGAGCTCAACAAGCTGC 0.617000 9 108 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2110333 2110333 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:2110333G>A ENST00000382203.1 + 24 3581 c.3372G>A c.(3370-3372)ctG>ctA p.L1124L SMARCA2_ENST00000349721.2_Silent_p.L1124L|SMARCA2_ENST00000382194.1_Silent_p.L1124L|SMARCA2_ENST00000357248.2_Silent_p.L1124L P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1124 Helicase C-terminal. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) TTTTCTTGCTGAGCACAAGAG 0.473000 17 50 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106046148 106046148 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:106046148C>T ENST00000357242.5 + 1 239 c.65C>T c.(64-66)tCc>tTc p.S22F TBC1D8B_ENST00000310452.2_Missense_Mutation_p.S22F|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.S22F|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.S22F NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 22 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ATGGAAAGGTCCAACGACTAC 0.612000 7 43 0 0 1 0 0 GABBR1 2550 broad.mit.edu 37 6 29589917 29589917 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:29589917G>A ENST00000377034.4 - 9 1364 c.1029C>T c.(1027-1029)ttC>ttT p.F343F GABBR1_ENST00000377016.4_Silent_p.F281F|GABBR1_ENST00000355973.3_Silent_p.F226F|GABBR1_ENST00000377012.4_Silent_p.F226F|GABBR1_ENST00000376977.3_Silent_p.F343F NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 343 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) GATCTGAGAAGAAACTCTGGC 0.517000 13 22 0 0 1 0 0 GPR37L1 9283 broad.mit.edu 37 1 202096982 202096982 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:202096982C>T ENST00000367282.5 + 2 850 c.744C>T c.(742-744)atC>atT p.I248I NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 GCCAATCCATCCTGGCCAAGT 0.647000 14 44 0 0 1 0 0 UROC1 131669 broad.mit.edu 37 3 126218907 126218907 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:126218907C>G ENST00000290868.2 - 12 1289 c.1236G>C c.(1234-1236)caG>caC p.Q412H UROC1_ENST00000383579.3_Missense_Mutation_p.Q472H NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 412 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) tACCTGCTCTCTGGGCCTCCA 0.627000 12 31 0 0 1 0 0 ZFP30 22835 broad.mit.edu 37 19 38134166 38134166 + Splice_Site SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:38134166C>T ENST00000351218.2 - 5 792 c.235G>A c.(235-237)Gat>Aat p.D79N ZFP30_ENST00000392144.1_Splice_Site_p.D79N|ZFP30_ENST00000514101.2_Splice_Site_p.D79N|ZFP30_ENST00000589018.1_Splice_Site_p.G78S NM_014898.2 NP_055713.1 Q9Y2G7 ZFP30_HUMAN ZFP30 zinc finger protein 79 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAGCACTTACCTAGAGTCCAT 0.488000 5 280 0 0 1 0 0 SNX1 6642 broad.mit.edu 37 15 64429794 64429794 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr15:64429794C>A ENST00000353874.4 + 14 1438 c.1402C>A c.(1402-1404)Cct>Act p.P468T SNX1_ENST00000559844.1_Missense_Mutation_p.P516T|SNX1_ENST00000261889.5_Intron|SNX1_ENST00000560829.1_Missense_Mutation_p.P298T|SNX1_ENST00000561026.1_Missense_Mutation_p.P451T Q13596 SNX1_HUMAN sorting nexin 1 516 BAR. cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport early endosome membrane|Golgi apparatus phosphatidylinositol binding|protein binding|protein transporter activity breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 AGCCTTCCTTCCTGAGGCAAA 0.557000 17 17 1.56452e-12 1.69475e-12 1 1 0 SFI1 9814 broad.mit.edu 37 22 31942884 31942884 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:31942884G>A ENST00000432498.1 + 5 769 c.376G>A c.(376-378)Gaa>Aaa p.E126K SFI1_ENST00000400289.1_Missense_Mutation_p.E44K|SFI1_ENST00000443011.1_Missense_Mutation_p.E44K|SFI1_ENST00000540643.1_Missense_Mutation_p.E102K|SFI1_ENST00000414585.1_Missense_Mutation_p.E44K|SFI1_ENST00000400288.2_Missense_Mutation_p.E126K|SFI1_ENST00000443326.1_Missense_Mutation_p.E44K NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 126 Interaction with CETN2. G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 GAAGGTCTTCGAAGAATGGAA 0.413000 13 56 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55141105 55141105 + Nonsense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:55141105C>G ENST00000257290.5 + 12 2082 c.1751C>G c.(1750-1752)tCa>tGa p.S584* FIP1L1_ENST00000507166.1_Nonsense_Mutation_p.S344* NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 584 cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CCTTATGACTCAAGATGGGAG 0.443000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 30 34 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72666943 72666943 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:72666943G>C ENST00000261180.4 + 1 481 c.385G>C c.(385-387)Gag>Cag p.E129Q TRHDE-AS1_ENST00000426250.3_RNA NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 129 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GTCGGAGGAGGAGCGGGAGCC 0.716000 6 11 0 0 1 0 0 TRMT1 55621 broad.mit.edu 37 19 13227003 13227003 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:13227003C>T ENST00000592062.1 - 3 781 c.211G>A c.(211-213)Gag>Aag p.E71K TRMT1_ENST00000357720.4_Missense_Mutation_p.E71K|TRMT1_ENST00000437766.1_Missense_Mutation_p.E71K|TRMT1_ENST00000221504.8_Missense_Mutation_p.E71K|TRMT1_ENST00000592892.1_5'UTR Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae) 71 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) TAAAAGACCTCGTTGGCACTG 0.597000 46 50 0 0 1 0 0 ACAD10 80724 broad.mit.edu 37 12 112184921 112184921 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:112184921G>C ENST00000455480.2 + 16 2595 c.2418G>C c.(2416-2418)caG>caC p.Q806H ACAD10_ENST00000392636.2_Missense_Mutation_p.Q377H|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.Q775H NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 775 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 CCGAAGCGCAGAAGGCTCGCT 0.597000 5 43 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77641944 77641944 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr13:77641944C>A ENST00000407578.2 - 71 12493 c.12227G>T c.(12226-12228)aGc>aTc p.S4076I MYCBP2_ENST00000357337.6_Missense_Mutation_p.S4038I|MYCBP2_ENST00000544440.2_Missense_Mutation_p.S4038I NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 4038 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TCCTATGATGCTGGCCAGACG 0.413000 27 48 6.07407e-21 6.72337e-21 1 1 0 CNTF 1270 broad.mit.edu 37 11 58391530 58391530 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:58391530G>C ENST00000361987.4 + 2 218 c.138G>C c.(136-138)aaG>aaC p.K46N ZFP91-CNTF_ENST00000389919.4_3'UTR NM_000614.3 NP_000605.1 P26441 CNTF_HUMAN ciliary neurotrophic factor 46 ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1) 10 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) GCCTGAACAAGAACATCAACC 0.512000 10 62 0 0 1 0 0 OR51I1 390063 broad.mit.edu 37 11 5461964 5461964 + Missense_Mutation SNP A A C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:5461964A>C ENST00000380211.1 - 1 780 c.781T>G c.(781-783)Tcc>Gcc p.S261A HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGAATCATGGAGACAGCAATT 0.488000 7 36 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42225092 42225092 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:42225092C>G ENST00000221992.6 + 8 2136 c.2022C>G c.(2020-2022)gtC>gtG p.V674V CEACAM5_ENST00000405816.1_Silent_p.V674V|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.V673V NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 674 Ig-like 7. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) GCATCACAGTCTCTGGTAAGT 0.458000 18 59 0 0 1 0 0 PPP1R16A 84988 broad.mit.edu 37 8 145724372 145724372 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:145724372G>C ENST00000292539.4 + 4 1321 c.404G>C c.(403-405)aGt>aCt p.S135T CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.S135T Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory subunit 16A 135 plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GCCTGTGACAGTGAGTGCTGG 0.627000 5 18 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79372747 79372747 + Silent SNP C C A rs142782610 by1000genomes TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:79372747C>A ENST00000350881.2 + 16 2152 c.1962C>A c.(1960-1962)acC>acA p.T654T THBS4_ENST00000511733.1_Silent_p.T563T|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 654 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) AGCTGGACACCGATAAGGATG 0.557000 43 54 5.44703e-19 6.00858e-19 1 1 0 SOS1 6654 broad.mit.edu 37 2 39250095 39250095 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:39250095C>G ENST00000426016.1 - 11 1560 c.1474G>C c.(1474-1476)Gaa>Caa p.E492Q SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.E492Q|SOS1_ENST00000402219.2_Missense_Mutation_p.E492Q Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 492 PH. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) AAAAACTTTTCTTTAAGACGA 0.318000 Noonan syndrome 48 50 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2591187 2591187 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr20:2591187C>G ENST00000358864.1 + 12 1551 c.1536C>G c.(1534-1536)ctC>ctG p.L512L TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 512 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TCTTTGCACTCTTCCTGGGGA 0.537000 9 55 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22204973 22204973 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:22204973C>G ENST00000374695.3 - 20 2649 c.2570G>C c.(2569-2571)gGa>gCa p.G857A NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 857 Laminin EGF-like 3. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GCCCTCGTATCCGGGGGCACA 0.677000 6 13 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580018 140580018 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:140580018G>C ENST00000354757.3 + 1 671 c.671G>C c.(670-672)gGa>gCa p.G224A PCDHB11_ENST00000536699.1_Intron NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 224 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCAGGTCTGGAACTGCCTTG 0.517000 27 41 0 0 1 0 0 AICDA 57379 broad.mit.edu 37 12 8757435 8757435 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:8757435G>T ENST00000229335.6 - 4 614 c.511C>A c.(511-513)Cgt>Agt p.R171S AICDA_ENST00000537228.1_Missense_Mutation_p.R161S NM_020661.2 NP_065712.1 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 171 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1) 16 Lung SC(5;0.184) CTGGAGAGACGAACTGAATTT 0.368000 27 135 1.7881e-09 1.90903e-09 1 1 0 GPR137 56834 broad.mit.edu 37 11 64055319 64055319 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:64055319G>A ENST00000539851.1 + 4 1001 c.534G>A c.(532-534)gtG>gtA p.V178V GPR137_ENST00000313074.3_Silent_p.V178V|GPR137_ENST00000377702.4_Silent_p.V178V|GPR137_ENST00000438980.2_Silent_p.V178V|GPR137_ENST00000411458.1_Silent_p.V236V NM_001177358.1 NP_001170829.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 178 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 GCGTCCTGGTGAGCGACTCCC 0.672000 12 32 0 0 1 0 0 BCKDHA 593 broad.mit.edu 37 19 41916898 41916898 + Missense_Mutation SNP A A G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:41916898A>G ENST00000269980.2 + 3 727 c.359A>G c.(358-360)tAt>tGt p.Y120C BCKDHA_ENST00000595085.1_Missense_Mutation_p.Y154C|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.Y154C|BCKDHA_ENST00000457836.2_Missense_Mutation_p.Y98C NM_000709.3|NM_001164783.1 NP_000700.1|NP_001158255.1 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha polypeptide 120 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 10 CGCATCCTCTATGAGTCTCAG 0.592000 50 112 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38765020 38765020 + Nonsense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:38765020C>A ENST00000449082.2 - 18 3252 c.3253G>T c.(3253-3255)Gag>Tag p.E1085* NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1085 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GTGCTGCCCTCAGAGGAGCTT 0.597000 3 14 1 1 1 1 0 NRBP1 29959 broad.mit.edu 37 2 27659664 27659664 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:27659664G>C ENST00000233557.3 + 9 1538 c.706G>C c.(706-708)Gag>Cag p.E236Q NRBP1_ENST00000379852.3_Missense_Mutation_p.E236Q|NRBP1_ENST00000379863.3_Missense_Mutation_p.E244Q Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 1 236 Protein kinase. ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) TTGTCGAGAAGAGCAGAAGAA 0.478000 18 90 0 0 1 0 0 HERC4 26091 broad.mit.edu 37 10 69750954 69750954 + Missense_Mutation SNP T T G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:69750954T>G ENST00000395198.3 - 12 1521 c.1274A>C c.(1273-1275)gAg>gCg p.E425A HERC4_ENST00000373700.4_Missense_Mutation_p.E425A|HERC4_ENST00000412272.2_Missense_Mutation_p.E425A|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Missense_Mutation_p.E315A NM_022079.2 NP_071362.1 Q5GLZ8 HERC4_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 4 425 cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis cytosol ubiquitin-protein ligase activity NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 27 TCCATCTATCTCACTAAAAAA 0.239000 9 23 0 0 1 0 0 SLC1A4 6509 broad.mit.edu 37 2 65243804 65243804 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:65243804C>G ENST00000234256.3 + 5 1274 c.1031C>G c.(1030-1032)tCc>tGc p.S344C SLC1A4_ENST00000531327.1_Intron NM_003038.4 NP_003029.2 P43007 SATT_HUMAN solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 344 cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1) 13 L-Alanine(DB00160) GCTACCTGCTCCAGGTGAGTG 0.478000 26 24 0 0 1 0 0 KCNJ2 3759 broad.mit.edu 37 17 68171347 68171347 + Missense_Mutation SNP T T C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:68171347T>C ENST00000243457.3 + 2 550 c.167T>C c.(166-168)gTt>gCt p.V56A KCNJ2_ENST00000535240.1_Missense_Mutation_p.V56A NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 56 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) CACTGTAATGTTCAGTTCATC 0.522000 8 52 0 0 1 0 0 SLC6A9 6536 broad.mit.edu 37 1 44476472 44476472 + Missense_Mutation SNP A A G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:44476472A>G ENST00000372310.3 - 3 278 c.113T>C c.(112-114)cTg>cCg p.L38P SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000360584.2_Missense_Mutation_p.L111P|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000372306.3_Missense_Mutation_p.L38P|SLC6A9_ENST00000372307.3_5'UTR|SLC6A9_ENST00000357730.2_Missense_Mutation_p.L57P NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 111 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CACGCTCGTCAGTACAAACTC 0.622000 24 37 0 0 1 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38133860 38133860 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:38133860G>C ENST00000317025.8 - 23 4543 c.4026C>G c.(4024-4026)ccC>ccG p.P1342P WHSC1L1_ENST00000527502.1_Silent_p.P1331P|RP11-513D5.5_ENST00000529325.1_RNA|WHSC1L1_ENST00000433384.2_Silent_p.P1293P NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 1342 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) GGTATGCTTTGGGACAGTCTT 0.448000 T NUP98 AML 4 71 0 0 1 0 0 THOC2 57187 broad.mit.edu 37 X 122757987 122757987 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:122757987C>A ENST00000245838.8 - 27 3273 c.3242G>T c.(3241-3243)gGt>gTt p.G1081V THOC2_ENST00000355725.4_Missense_Mutation_p.G1081V|THOC2_ENST00000491737.1_Missense_Mutation_p.G966V NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1081 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 CTTATTTCCACCATCAAATCC 0.318000 12 59 3.03607e-14 3.31866e-14 1 1 0 OR56A4 120793 broad.mit.edu 37 11 6023938 6023938 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:6023938G>C ENST00000330728.4 - 1 486 c.441C>G c.(439-441)atC>atG p.I147M NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGAAGCTGATCGACCTGA 0.542000 11 44 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135453603 135453603 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:135453603G>C ENST00000394143.1 + 14 7804 c.7513G>C c.(7513-7515)Gag>Cag p.E2505Q GPR112_ENST00000394141.1_Missense_Mutation_p.E2300Q|GPR112_ENST00000287534.4_Missense_Mutation_p.E2303Q|GPR112_ENST00000412101.1_Missense_Mutation_p.E2300Q|GPR112_ENST00000370652.1_Missense_Mutation_p.E2505Q NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2505 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACAATGTGATGAGATAAGTAT 0.323000 9 82 0 0 1 0 0 SELO 83642 broad.mit.edu 37 22 50648640 50648640 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:50648640G>A ENST00000380903.2 + 4 1028 c.970G>A c.(970-972)Gag>Aag p.E324K SELO_ENST00000492092.1_3'UTR NM_031454.1 NP_113642.1 Q9BVL4 SELO_HUMAN all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) GATGGTGGCCGAGTGGCAGTG 0.657000 OREG0026676 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 13 0 0 1 0 0 ZNF358 140467 broad.mit.edu 37 19 7584149 7584149 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:7584149C>T ENST00000599312.1 + 2 119 c.119C>T c.(118-120)tCa>tTa p.S40L ZNF358_ENST00000394341.2_Silent_p.V7V|ZNF358_ENST00000597229.1_Silent_p.V7V CAGTCCTGGTCAGGAACCCAG 0.587000 9 60 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100361433 100361433 + RNA SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:100361433C>T ENST00000542585.1 + 0 4139 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TTGCAGGTGTCAGAAGTACCA 0.597000 39 47 0 0 1 0 0 ZNF524 147807 broad.mit.edu 37 19 56113490 56113490 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:56113490C>G ENST00000591046.1 + 1 246 c.12C>G c.(10-12)ccC>ccG p.P4P ZNF524_ENST00000301073.3_Silent_p.P4P Q96C55 ZN524_HUMAN zinc finger protein 524 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(2)|lung(6)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) TGGACACCCCCAGCCCAGACC 0.657000 5 74 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189918914 189918914 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:189918914G>C ENST00000374866.3 - 36 2690 c.2416C>G c.(2416-2418)Cca>Gca p.P806A NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 806 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GCCGGACCTGGAGGGCCCAAA 0.403000 10 74 0 0 1 0 0 GLB1 2720 broad.mit.edu 37 3 33087665 33087665 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:33087665C>T ENST00000307363.5 - 10 1159 c.1015G>A c.(1015-1017)Gag>Aag p.E339K GLB1_ENST00000307377.8_Missense_Mutation_p.E208K|GLB1_ENST00000399402.3_Missense_Mutation_p.E309K|GLB1_ENST00000445488.2_Missense_Mutation_p.E387K NM_000404.2 NP_000395 P16278 BGAL_HUMAN galactosidase, beta 1 339 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) TCCCCAGCCTCACTCAGTGGG 0.517000 23 55 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81259106 81259106 + Nonsense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:81259106G>A ENST00000555265.1 - 14 1933 c.1558C>T c.(1558-1560)Cag>Tag p.Q520* CEP128_ENST00000281129.3_Nonsense_Mutation_p.Q520* Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 520 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 TTTTATACCTGATTATTCTTG 0.373000 19 54 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12984486 12984486 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:12984486C>T ENST00000251472.4 + 26 3554 c.3515C>T c.(3514-3516)tCg>tTg p.S1172L NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 1172 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 TCGTCGGCGTCGCACCACATT 0.662000 6 10 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 3 10 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182852729 182852729 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:182852729G>C ENST00000367549.3 + 26 3329 c.3219G>C c.(3217-3219)aaG>aaC p.K1073N DHX9_ENST00000485081.1_3'UTR NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 1073 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 TTGCCTCCAAGAAAGTCCAAT 0.418000 25 83 0 0 1 0 0 DYTN 391475 broad.mit.edu 37 2 207559548 207559548 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:207559548G>C ENST00000452335.2 - 8 889 c.773C>G c.(772-774)tCt>tGt p.S258C NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 258 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GTGAAGACCAGATAAGAAACA 0.398000 6 43 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54957733 54957733 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:54957733C>G ENST00000319167.8 + 13 2195 c.2083C>G c.(2083-2085)Caa>Gaa p.Q695E TRO_ENST00000375022.4_Missense_Mutation_p.Q695E|TRO_ENST00000375041.2_3'UTR|TRO_ENST00000173898.7_3'UTR|TRO_ENST00000420798.2_3'UTR|TRO_ENST00000399736.1_Missense_Mutation_p.Q298E NM_016157.3 NP_057241.2 Q12816 TROP_HUMAN trophinin 0 embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 ACACAGCAGTCAAGGCAGTTA 0.423000 20 74 0 0 1 0 0 POLR1C 9533 broad.mit.edu 37 6 43488737 43488737 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:43488737G>C ENST00000372389.3 + 8 961 c.873G>C c.(871-873)gaG>gaC p.E291D POLR1C_ENST00000372344.2_Missense_Mutation_p.E241D|POLR1C_ENST00000304004.3_Missense_Mutation_p.E291D NM_203290.2 NP_976035.1 O15160 RPAC1_HUMAN polymerase (RNA) I polypeptide C, 30kDa 291 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity kidney(1)|large_intestine(2)|lung(1)|prostate(1) 5 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) TCCGGAATGAGAAGCTAAAGA 0.468000 21 67 0 0 1 0 0 TRIM67 440730 broad.mit.edu 37 1 231337118 231337118 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:231337118G>A ENST00000444294.3 + 5 2247 c.1389G>A c.(1387-1389)ctG>ctA p.L463L TRIM67_ENST00000366652.2_Silent_p.L463L|TRIM67_ENST00000449018.3_Silent_p.L401L|TRIM67_ENST00000366653.5_Silent_p.L463L NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 463 COS. cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) CAGATGCTCTGATCAAGCGCG 0.527000 8 16 0 0 1 0 0 DNMT3L 29947 broad.mit.edu 37 21 45681115 45681115 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr21:45681115C>G ENST00000270172.3 - 2 511 c.28G>C c.(28-30)Gag>Cag p.E10Q DNMT3L_ENST00000418993.1_Missense_Mutation_p.E10Q NM_013369.3 NP_037501.2 Q9UJW3 DNM3L_HUMAN DNA (cytosine-5-)-methyltransferase 3-like 10 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) GGCTCGGCCTCTGGGTCCAGG 0.602000 5 67 0 0 1 0 0 AKAP17A 8227 broad.mit.edu 37 X 1720174 1720174 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:1720174G>A ENST00000313871.3 + 5 1971 c.1775G>A c.(1774-1776)gGa>gAa p.G592E NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 592 Arg-rich. B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 CGGGCCACCGGAGACGGGCTT 0.706000 5 34 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215256745 215256745 + Nonsense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:215256745C>A ENST00000444842.2 + 1 167 c.17C>A c.(16-18)tCg>tAg p.S6* KCNK2_ENST00000391894.2_Intron|KCNK2_ENST00000391895.2_Intron NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 6 outward rectifier potassium channel activity p.S6W(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CCCAGCGCCTCGCGGGAGAGA 0.547000 13 32 6.49762e-13 7.05435e-13 1 1 0 ZBTB4 57659 broad.mit.edu 37 17 7366392 7366392 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:7366392C>G ENST00000311403.4 - 4 2248 c.1909G>C c.(1909-1911)Gag>Cag p.E637Q ZBTB4_ENST00000380599.4_Missense_Mutation_p.E637Q NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 637 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) tcgtcctcctcactctcctcc 0.602000 7 3 0 0 1 0 0 DDX19B 11269 broad.mit.edu 37 16 70349882 70349882 + Silent SNP T T G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:70349882T>G ENST00000288071.6 + 4 416 c.171T>G c.(169-171)gcT>gcG p.A57A DDX19B_ENST00000393657.2_5'UTR|RP11-529K1.3_ENST00000567706.1_Silent_p.A57A|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000355992.3_Silent_p.A57A|DDX19B_ENST00000563206.1_Silent_p.A62A|DDX19B_ENST00000570055.1_3'UTR|DDX19B_ENST00000568625.1_5'UTR|DDX19B_ENST00000563392.1_5'UTR|DDX19B_ENST00000451014.3_Silent_p.A62A NM_007242.5 NP_009173.1 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B 57 mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) AGGACAGAGCTGCCCAGTCCT 0.428000 41 120 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72139167 72139167 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:72139167G>A ENST00000555818.1 + 9 3280 c.2932G>A c.(2932-2934)Gag>Aag p.E978K SIPA1L1_ENST00000537413.1_Missense_Mutation_p.E453K|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.E978K|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.E978K NM_001284247.1|NM_015556.1 NP_001271176.1|NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 978 PDZ. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GGCGGATGTGGAGCCCTACGG 0.562000 9 46 0 0 1 0 0 IL1RAP 3556 broad.mit.edu 37 3 190326925 190326925 + Silent SNP T T C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:190326925T>C ENST00000412504.2 + 4 744 c.492T>C c.(490-492)gaT>gaC p.D164D IL1RAP_ENST00000422485.1_Silent_p.D164D|IL1RAP_ENST00000439062.1_Silent_p.D164D|IL1RAP_ENST00000422940.1_Silent_p.D164D|IL1RAP_ENST00000072516.3_Silent_p.D164D|IL1RAP_ENST00000317757.3_Silent_p.D164D|IL1RAP_ENST00000434491.1_Silent_p.D23D|IL1RAP_ENST00000443369.2_Silent_p.D164D|IL1RAP_ENST00000447382.1_Silent_p.D164D Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein 164 Ig-like C2-type 2. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) CAAATGTAGATGGATATTTTC 0.348000 33 66 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46654619 46654619 + Missense_Mutation SNP A A T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:46654619A>T ENST00000253255.5 - 1 4600 c.4601T>A c.(4600-4602)cTc>cAc p.L1534H NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1534 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) ATTTGGCCCGAGGGTCTCCGG 0.478000 34 199 0 0 1 0 0 FAM122B 159090 broad.mit.edu 37 X 133915913 133915913 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:133915913G>C ENST00000370790.1 - 8 1465 c.537C>G c.(535-537)ctC>ctG p.L179L FAM122B_ENST00000486347.1_Silent_p.L180L|FAM122B_ENST00000343004.5_Silent_p.L198L|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000298090.6_Silent_p.L198L NM_001166599.2|NM_145284.5 NP_001160071.1|NP_660327.2 Q7Z309 F122B_HUMAN family with sequence similarity 122B 179 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1) 6 Acute lymphoblastic leukemia(192;0.000127) TGCCTTGGAAGAGTCTCTTGG 0.363000 40 87 0 0 1 0 0 ZNF606 80095 broad.mit.edu 37 19 58489891 58489891 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:58489891C>G ENST00000341164.4 - 7 2777 c.2157G>C c.(2155-2157)gaG>gaC p.E719D ZNF606_ENST00000536132.1_Missense_Mutation_p.E629D NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 719 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E719D(2) NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) GGGATGAACTCTCATTAAATG 0.368000 52 68 0 0 1 0 0 RUSC1-AS1 284618 broad.mit.edu 37 1 155290466 155290466 + RNA SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:155290466C>G ENST00000446880.1 - 0 410 RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA Q66K80 RUAS1_HUMAN TCTTGTGGTTCTGTTCTTGCT 0.557000 9 17 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90816441 90816441 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:90816441G>A ENST00000394980.1 + 2 638 c.319G>A c.(319-321)Gaa>Aaa p.E107K MMRN1_ENST00000394981.1_Missense_Mutation_p.E73K|MMRN1_ENST00000264790.2_Missense_Mutation_p.E107K Q13201 MMRN1_HUMAN multimerin 1 107 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) AGAGAAAGCAGAAGGAGTGGT 0.453000 8 53 0 0 1 0 0 SLC7A9 11136 broad.mit.edu 37 19 33355550 33355550 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:33355550C>A ENST00000023064.4 - 3 411 c.220G>T c.(220-222)Gtc>Ttc p.V74F SLC7A9_ENST00000590341.1_Missense_Mutation_p.V74F|SLC7A9_ENST00000587772.1_Missense_Mutation_p.V74F NM_001126335.1|NM_001243036.1|NM_014270.4 NP_001119807.1|NP_001229965.1|NP_055085.1 P82251 BAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9 74 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) GTCGCGAGGACCCCGCAAGCC 0.637000 6 76 0.000157383 0.000163849 1 1 0 RAD21 5885 broad.mit.edu 37 8 117862989 117862989 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:117862989C>T ENST00000297338.2 - 12 1775 c.1488G>A c.(1486-1488)caG>caA p.Q496Q RAD21_ENST00000523986.1_5'UTR|RAD21_ENST00000518055.1_Silent_p.Q41Q NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 496 Pro-rich. apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) GTATTTCCATCTGCTCTACCT 0.368000 9 79 0 0 1 0 0 CD82 3732 broad.mit.edu 37 11 44639760 44639760 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:44639760G>A ENST00000227155.4 + 8 735 c.487G>A c.(487-489)Gag>Aag p.E163K CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Missense_Mutation_p.E138K NM_002231.3 NP_002222.1 P27701 CD82_HUMAN CD82 molecule 163 integral to plasma membrane protein binding large_intestine(1)|ovary(1) 2 AGACAACGCTGAGCTCATGAA 0.602000 13 45 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39486947 39486947 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:39486947G>C ENST00000265707.5 + 7 622 c.577G>C c.(577-579)Gaa>Caa p.E193Q ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.E193Q NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 193 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CATTATAGTGGAAAAAGCTTT 0.318000 18 196 0 0 1 0 0 HPS1 3257 broad.mit.edu 37 10 100190958 100190958 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:100190958C>T ENST00000325103.6 - 7 831 c.598G>A c.(598-600)Gag>Aag p.E200K HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000338546.5_Missense_Mutation_p.E200K|HPS1_ENST00000361490.4_Missense_Mutation_p.E200K NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 200 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) CCTCCCCGCTCGGGGCTGGTG 0.632000 Hermansky-Pudlak syndrome 3 11 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187615976 187615976 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:187615976G>C ENST00000304698.5 + 5 1043 c.840G>C c.(838-840)ctG>ctC p.L280L NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 280 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 TTCTACGTCTGAATGATATAA 0.363000 21 88 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149481978 149481978 + RNA SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:149481978C>G ENST00000378016.2 + 0 2766 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CAGGGGCATTCTGCCCCAGGG 0.612000 24 42 0 0 1 0 0 TAT 6898 broad.mit.edu 37 16 71606217 71606217 + Missense_Mutation SNP G G C rs142154262 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:71606217G>C ENST00000355962.4 - 6 711 c.578C>G c.(577-579)tCt>tGt p.S193C RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 193 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) AATTTCCCAAGATTTCTCTGG 0.398000 4 30 0 0 1 0 0 ATP5J2-PTCD1 100526740 broad.mit.edu 37 7 99057805 99057805 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:99057805C>T ENST00000413834.1 - 2 47 c.25G>A c.(25-27)Gac>Aac p.D9N ATP5J2_ENST00000544611.1_Missense_Mutation_p.D9N|PTCD1_ENST00000555673.1_Missense_Mutation_p.D9N|ATP5J2_ENST00000449683.1_Missense_Mutation_p.D19N|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000394186.3_Missense_Mutation_p.D9N|ATP5J2_ENST00000488775.1_Missense_Mutation_p.D9N|ATP5J2_ENST00000292475.3_Missense_Mutation_p.D15N|ATP5J2_ENST00000466753.1_Intron|ATP5J2_ENST00000359832.4_Missense_Mutation_p.D15N B4DJ38 B4DJ38_HUMAN 9 AGTTTCTTGTCCTTCACTGGT 0.473000 24 105 0 0 1 0 0 SLC29A4 222962 broad.mit.edu 37 7 5336660 5336660 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:5336660C>T ENST00000396872.3 + 7 874 c.713C>T c.(712-714)tCg>tTg p.S238L SLC29A4_ENST00000297195.4_Missense_Mutation_p.S238L|SLC29A4_ENST00000406453.3_Missense_Mutation_p.S224L Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) TTCCTGGTGTCGGTGGCGCTG 0.662000 6 45 0 0 1 0 0 EWSR1 2130 broad.mit.edu 37 22 29669816 29669816 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:29669816G>A ENST00000397938.2 + 4 508 c.189G>A c.(187-189)caG>caA p.Q63Q EWSR1_ENST00000332050.6_Silent_p.Q63Q|EWSR1_ENST00000414183.2_Silent_p.Q63Q|EWSR1_ENST00000406548.1_Silent_p.Q63Q|EWSR1_ENST00000331029.7_Silent_p.Q63Q|EWSR1_ENST00000333395.6_Silent_p.Q63Q|EWSR1_ENST00000332035.6_Silent_p.Q63Q NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 63 31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CCTATGGGCAGACCGCCTATG 0.507000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 21 38 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67092856 67092856 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:67092856G>T ENST00000284425.2 - 24 3381 c.3207C>A c.(3205-3207)ttC>ttA p.F1069L ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1069 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) GAATTAAAATGAAGAAGCTGA 0.363000 11 36 5.50884e-06 5.76632e-06 1 1 0 HIST1H2BC 8347 broad.mit.edu 37 6 26123970 26123970 + Missense_Mutation SNP T T C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:26123970T>C ENST00000314332.5 - 1 168 c.163A>G c.(163-165)Atc>Gtc p.I55V HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.I55V P62807 H2B1C_HUMAN histone cluster 1, H2bc 55 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 16 TTGGAAGAGATGCCAGTGTCG 0.542000 29 124 0 0 1 0 0 CBLN2 147381 broad.mit.edu 37 18 70209071 70209071 + Missense_Mutation SNP T T A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr18:70209071T>A ENST00000269503.4 - 3 1098 c.325A>T c.(325-327)Agc>Tgc p.S109C CBLN2_ENST00000585159.1_Missense_Mutation_p.S109C|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000584764.1_Intron NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 109 C1q. integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) GTGCGGTTGCTCATCTCGGAC 0.721000 5 6 0 0 1 0 0 AP4M1 9179 broad.mit.edu 37 7 99704427 99704427 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:99704427C>T ENST00000429084.1 + 15 1463 c.1305C>T c.(1303-1305)ttC>ttT p.F435F AP4M1_ENST00000421755.1_Silent_p.F428F|AP4M1_ENST00000359593.4_Silent_p.F428F|AP4M1_ENST00000422582.1_Silent_p.F300F O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 428 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGCTGGCCTTCAGGCCATGCG 0.642000 11 28 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101608876 101608876 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:101608876G>A ENST00000311812.2 - 10 1119 c.969C>T c.(967-969)gtC>gtT p.V323V SNX31_ENST00000428383.2_Silent_p.V224V|SNX31_ENST00000519521.1_5'UTR NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 323 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) CAAGGAAAGTGACCTGCCAGC 0.488000 17 31 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10212682 10212682 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:10212682G>A ENST00000418404.3 - 34 5201 c.5038C>T c.(5038-5040)Cgc>Tgc p.R1680C MYH13_ENST00000252172.4_Missense_Mutation_p.R1680C|RP11-401O9.4_ENST00000609088.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1680 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 CCATTCCTGCGCTCCACGATG 0.642000 3 21 0 0 1 0 0 CTAGE5 4253 broad.mit.edu 37 14 39782546 39782546 + Missense_Mutation SNP A A T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:39782546A>T ENST00000553728.1 + 18 3014 c.2801A>T c.(2800-2802)aAa>aTa p.K934I CTAGE5_ENST00000396165.4_Missense_Mutation_p.K370I|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.K370I|CTAGE5_ENST00000396158.2_Missense_Mutation_p.K404I|CTAGE5_ENST00000280083.3_Missense_Mutation_p.K399I|CTAGE5_ENST00000557038.1_Missense_Mutation_p.K319I|CTAGE5_ENST00000341749.3_Missense_Mutation_p.K387I|CTAGE5_ENST00000348007.3_Missense_Mutation_p.K399I|CTAGE5_ENST00000341502.5_Missense_Mutation_p.K399I|CTAGE5_ENST00000553352.1_Missense_Mutation_p.K370I|CTAGE5_ENST00000556148.1_Missense_Mutation_p.K324I TTTTTAAGGAAATTAACAGTA 0.303000 5 34 0 0 1 0 0 CMA1 1215 broad.mit.edu 37 14 24977459 24977459 + Translation_Start_Site SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:24977459C>A ENST00000250378.3 - 0 12 CMA1_ENST00000206446.4_De_novo_Start_InFrame|RP11-80A15.1_ENST00000555109.1_Silent_p.A87A NM_001836.3 NP_001827.1 P23946 CMA1_HUMAN chymase 1, mast cell interleukin-1 beta biosynthetic process|proteolysis extracellular region serine-type endopeptidase activity kidney(1)|lung(8)|pancreas(1)|prostate(1) 11 GBM - Glioblastoma multiforme(265;0.0271) GAGAGGCTGCCTGAGCAAATG 0.527000 3 13 0.004672 0.00476603 1 1 0 TMC1 117531 broad.mit.edu 37 9 75407236 75407236 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:75407236C>G ENST00000297784.5 + 17 2074 c.1534C>G c.(1534-1536)Cga>Gga p.R512G TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.R512G|TMC1_ENST00000396237.3_Missense_Mutation_p.R512G NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 512 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 AGATGTACCTCGAGGACCTTG 0.423000 38 164 0 0 1 0 0 BEST4 266675 broad.mit.edu 37 1 45253367 45253367 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:45253367G>A ENST00000372207.3 - 1 10 c.11C>T c.(10-12)tCa>tTa p.S4L NM_153274.2 NP_695006.1 Q8NFU0 BEST4_HUMAN bestrophin 4 4 chloride channel complex|plasma membrane chloride channel activity large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) GAGAGTGTATGAAACCGTCAT 0.577000 9 39 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8517918 8517918 + Missense_Mutation SNP T T G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:8517918T>G ENST00000381196.4 - 18 2016 c.1473A>C c.(1471-1473)aaA>aaC p.K491N PTPRD_ENST00000540109.1_Missense_Mutation_p.K491N|PTPRD_ENST00000397617.3_Missense_Mutation_p.K481N|PTPRD_ENST00000356435.5_Missense_Mutation_p.K491N|PTPRD_ENST00000397606.3_Missense_Mutation_p.K481N|PTPRD_ENST00000537002.1_Missense_Mutation_p.K488N|PTPRD_ENST00000360074.4_Missense_Mutation_p.K478N|PTPRD_ENST00000358503.5_Missense_Mutation_p.K478N|PTPRD_ENST00000397611.3_Missense_Mutation_p.K488N|PTPRD_ENST00000355233.5_Missense_Mutation_p.K491N|PTPRD_ENST00000486161.1_Missense_Mutation_p.K491N NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 491 Fibronectin type-III 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AAGCCAGGACTTTGACAGAAT 0.438000 TSP Lung(15;0.13) 10 46 0 0 1 0 0 CHN2 1124 broad.mit.edu 37 7 29440302 29440302 + Nonsense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:29440302C>G ENST00000222792.6 + 6 964 c.434C>G c.(433-435)tCa>tGa p.S145* CHN2_ENST00000546235.1_Nonsense_Mutation_p.S130*|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000495789.2_Nonsense_Mutation_p.S158*|CHN2_ENST00000539406.1_Nonsense_Mutation_p.S220* NM_004067.2 NP_004058.1 P52757 CHIO_HUMAN chimerin 2 145 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2) 23 GAGTACATTTCAAAAATGACA 0.408000 8 45 0 0 1 0 0 TMEM241 85019 broad.mit.edu 37 18 20964995 20964995 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr18:20964995C>G ENST00000383233.3 - 5 368 c.316G>C c.(316-318)Gaa>Caa p.E106Q TMEM241_ENST00000542162.1_Missense_Mutation_p.E106Q|TMEM241_ENST00000450466.2_5'UTR|TMEM241_ENST00000399707.1_Missense_Mutation_p.E80Q NM_032933.4 NP_116322.3 Q24JQ0 CR045_HUMAN transmembrane protein 241 106 integral to membrane ATGATAACTTCAGCTACATTA 0.333000 6 35 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167675327 167675327 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:167675327G>C ENST00000519204.1 + 26 7138 c.7020G>C c.(7018-7020)aaG>aaC p.K2340N TENM2_ENST00000520394.1_Missense_Mutation_p.K2222N|TENM2_ENST00000403607.2_Missense_Mutation_p.K2285N|TENM2_ENST00000518659.1_Missense_Mutation_p.K2461N|TENM2_ENST00000545108.1_Missense_Mutation_p.K2460N teneurin transmembrane protein 2 ATATGTTCAAGAGCAACAATC 0.517000 7 18 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151948040 151948040 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:151948040C>T ENST00000355193.2 - 12 1851 c.1633G>A c.(1633-1635)Gaa>Aaa p.E545K KMT2C_ENST00000262189.6_Missense_Mutation_p.E545K lysine (K)-specific methyltransferase 2C ACTTCCATTTCATTGTTATAA 0.343000 10 54 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47676441 47676441 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:47676441G>A ENST00000273857.4 - 10 1325 c.1326C>T c.(1324-1326)ctC>ctT p.L442L CORIN_ENST00000508498.1_Silent_p.L303L|CORIN_ENST00000504584.1_Silent_p.L405L|CORIN_ENST00000502252.1_Silent_p.L375L|CORIN_ENST00000505909.1_Silent_p.L405L NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 442 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TCGGGTCACAGAGAGAGCTAC 0.448000 34 42 0 0 1 0 0 LIMD1 8994 broad.mit.edu 37 3 45637258 45637258 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:45637258C>T ENST00000273317.4 + 1 908 c.887C>T c.(886-888)tCt>tTt p.S296F LIMD1_ENST00000465039.1_Intron|LIMD1_ENST00000440097.1_Missense_Mutation_p.S296F NM_014240.2 NP_055055.1 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 296 cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) AGGACCCCTTCTGTGTCAGCA 0.632000 15 54 0 0 1 0 0 C3orf56 285311 broad.mit.edu 37 3 126916019 126916019 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:126916019C>T ENST00000398112.1 + 2 731 c.491C>T c.(490-492)tCa>tTa p.S164L NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) CCAGCCAGCTCAGCCCCCAGG 0.627000 17 48 0 0 1 0 0 USP32 84669 broad.mit.edu 37 17 58300841 58300841 + Silent SNP C C T rs138712503 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:58300841C>T ENST00000300896.4 - 14 1733 c.1539G>A c.(1537-1539)ttG>ttA p.L513L USP32_ENST00000592339.1_Silent_p.L183L NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 513 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TAAGGTGCAACAAAATATTCC 0.393000 16 101 0 0 1 0 0 ABCF2 10061 broad.mit.edu 37 7 150921105 150921105 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:150921105C>T ENST00000287844.2 - 4 572 c.463G>A c.(463-465)Gac>Aac p.D155N ABCF2_ENST00000222388.2_Missense_Mutation_p.D155N NM_007189.1 NP_009120.1 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F (GCN20), member 2 155 ABC transporter 1. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGTGTCTTGTCACTAGGGGGC 0.557000 14 30 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106065249 106065249 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:106065249G>C ENST00000357242.5 + 4 577 c.403G>C c.(403-405)Gat>Cat p.D135H TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D135H|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D135H|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.D135H NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 135 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGCAAAAGAAGATGATCCTGA 0.318000 31 54 0 0 1 0 0 RWDD4 201965 broad.mit.edu 37 4 184577047 184577047 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:184577047G>C ENST00000326397.5 - 2 364 c.92C>G c.(91-93)tCt>tGt p.S31C RWDD4_ENST00000327570.9_Missense_Mutation_p.S31C|RWDD4_ENST00000512740.1_Intron|RWDD4_ENST00000510968.1_Intron NM_152682.2 NP_689895.2 Q6NW29 RWDD4_HUMAN RWD domain containing 4 31 RWD. large_intestine(2)|lung(4)|ovary(1)|prostate(1) 8 ATATTGAAAAGAAACTGGACT 0.318000 23 86 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216274681 216274681 + Missense_Mutation SNP T T G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:216274681T>G ENST00000354785.4 - 14 2467 c.2098A>C c.(2098-2100)Acc>Ccc p.T700P FN1_ENST00000432072.2_Missense_Mutation_p.T700P|FN1_ENST00000357009.2_Missense_Mutation_p.T700P|FN1_ENST00000359671.1_Missense_Mutation_p.T700P|FN1_ENST00000346544.3_Missense_Mutation_p.T700P|FN1_ENST00000345488.5_Missense_Mutation_p.T700P|FN1_ENST00000323926.6_Missense_Mutation_p.T700P|FN1_ENST00000357867.4_Missense_Mutation_p.T700P|FN1_ENST00000446046.1_Missense_Mutation_p.T700P|FN1_ENST00000443816.1_Missense_Mutation_p.T700P|FN1_ENST00000421182.1_Missense_Mutation_p.T700P|FN1_ENST00000356005.4_Missense_Mutation_p.T700P|FN1_ENST00000336916.4_Missense_Mutation_p.T700P P02751 FINC_HUMAN fibronectin 1 700 acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGGTGCTGGTGGTGGTGAAG 0.562000 24 98 0 0 1 0 0 VASN 114990 broad.mit.edu 37 16 4432202 4432202 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:4432202G>C ENST00000304735.3 + 2 1479 c.1324G>C c.(1324-1326)Gag>Cag p.E442Q CORO7_ENST00000251166.4_Intron|CORO7_ENST00000539968.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000537233.2_Intron NM_138440.2 NP_612449.2 Q6EMK4 VASN_HUMAN vasorin 442 EGF-like. extracellular region|integral to membrane breast(1)|lung(3)|prostate(1)|skin(1) 6 CCTGTACTGTGAGAGCCAGAT 0.692000 3 1 0 0 1 0 0 C1orf52 148423 broad.mit.edu 37 1 85725229 85725229 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:85725229C>T ENST00000471115.1 - 1 96 c.88G>A c.(88-90)Gag>Aag p.E30K C1orf52_ENST00000344356.5_Missense_Mutation_p.E30K|C1orf52_ENST00000294661.4_5'UTR NM_198077.3 NP_932343.1 Q8N6N3 CA052_HUMAN chromosome 1 open reading frame 52 30 endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1) 10 all cancers(265;0.0105)|Epithelial(280;0.0293) TCCTCCGGCTCGATGTTATCC 0.647000 OREG0013580 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 9 0 0 1 0 0 EPHX3 79852 broad.mit.edu 37 19 15338883 15338883 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:15338883G>T ENST00000221730.3 - 5 865 c.645C>A c.(643-645)ttC>ttA p.F215L EPHX3_ENST00000435261.1_Missense_Mutation_p.F215L|EPHX3_ENST00000602233.1_Missense_Mutation_p.F215L NM_024794.2 NP_079070.1 Q9H6B9 EPHX3_HUMAN epoxide hydrolase 3 215 extracellular region hydrolase activity endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 7 GGGAACGGAAGAACTGGCTGA 0.577000 7 16 0.00307968 0.00315839 1 1 0 KIF6 221458 broad.mit.edu 37 6 39325103 39325103 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:39325103G>C ENST00000287152.7 - 19 2224 c.2130C>G c.(2128-2130)ctC>ctG p.L710L KIF6_ENST00000229913.5_Silent_p.L161L|KIF6_ENST00000538893.1_Silent_p.L654L|KIF6_ENST00000373216.3_Silent_p.L710L|KIF6_ENST00000373213.4_Silent_p.L549L|KIF6_ENST00000541946.1_Silent_p.L161L|KIF6_ENST00000373215.3_Silent_p.L693L|KIF6_ENST00000394362.1_Silent_p.L161L NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 710 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CAGATGTCTGGAGAAATGGCT 0.473000 14 62 0 0 1 0 0 CPE 1363 broad.mit.edu 37 4 166405672 166405672 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:166405672C>T ENST00000402744.4 + 5 1169 c.889C>T c.(889-891)Cgg>Tgg p.R297W NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 297 R -> Q (in a colorectal cancer sample; somatic mutation). cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGACCCCAATCGGCCACCATG 0.532000 120 129 0 0 1 0 0 ERCC6L 54821 broad.mit.edu 37 X 71427455 71427455 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:71427455C>G ENST00000373657.1 - 3 1395 c.793G>C c.(793-795)Gat>Cat p.D265H ERCC6L_ENST00000334463.3_Missense_Mutation_p.D388H|PIN4_ENST00000423432.2_Intron Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 388 Helicase ATP-binding. cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) TTGATATGATCTAAAGACACA 0.418000 39 60 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81675174 81675174 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:81675174C>G ENST00000550584.2 - 26 3369 c.3074G>C c.(3073-3075)gGa>gCa p.G1025A PPFIA2_ENST00000550359.2_Missense_Mutation_p.G872A|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G920A|PPFIA2_ENST00000552948.1_Missense_Mutation_p.G1004A|PPFIA2_ENST00000549396.1_Missense_Mutation_p.G1025A|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Missense_Mutation_p.G211A|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G1010A|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G1019A|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G924A|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000333447.7_Missense_Mutation_p.G1010A|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G561A NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 924 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CCATTCATTTCCAATCCACTC 0.378000 6 48 0 0 1 0 0 LIAS 11019 broad.mit.edu 37 4 39471699 39471699 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:39471699G>C ENST00000261434.3 + 8 916 c.798G>C c.(796-798)aaG>aaC p.K266N LIAS_ENST00000513731.1_Missense_Mutation_p.K136N|LIAS_ENST00000381846.1_Missense_Mutation_p.K223N|LIAS_ENST00000340169.2_Missense_Mutation_p.K266N NM_006859.2 NP_006850.2 O43766 LIAS_HUMAN lipoic acid synthetase 266 inflammatory response|response to lipopolysaccharide|response to oxidative stress mitochondrion 4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2) 12 Lipoic Acid(DB00166) AACATGCCAAGAAGGTTCAGC 0.393000 11 29 0 0 1 0 0 TSC22D3 1831 broad.mit.edu 37 X 106957959 106957959 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:106957959C>G ENST00000372383.4 - 3 760 c.393G>C c.(391-393)ctG>ctC p.L131L TSC22D3_ENST00000372397.2_Silent_p.L65L|TSC22D3_ENST00000506081.1_Silent_p.L131L|TSC22D3_ENST00000514426.1_Silent_p.L63L|TSC22D3_ENST00000372390.4_Silent_p.L8L|TSC22D3_ENST00000315660.4_Silent_p.L131L|TSC22D3_ENST00000372382.4_Silent_p.L41L|TSC22D3_ENST00000372384.2_Silent_p.L131L NM_198057.2 NP_932174.1 Q99576 T22D3_HUMAN TSC22 domain family, member 3 65 sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2)|lung(3) 6 CAGCATACATCAGATGATTCT 0.512000 14 86 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39888501 39888501 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:39888501G>C ENST00000564288.1 + 60 16855 c.16078G>C c.(16078-16080)Gag>Cag p.E5360Q MACF1_ENST00000567887.1_Missense_Mutation_p.E5397Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E3800Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E3298Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E3298Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E5365Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E3277Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E3298Q Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 5365 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGATACCGAGGAGCTCATAGC 0.473000 25 37 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157556119 157556119 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:157556119C>A ENST00000271532.1 - 6 1109 c.974G>T c.(973-975)cGa>cTa p.R325L FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 325 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) CATGTCCTCTCGGTGCCAGGA 0.607000 4 99 0.150653 0.15144 1 1 0 STK3 6788 broad.mit.edu 37 8 99718791 99718791 + Silent SNP T T A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:99718791T>A ENST00000523601.1 - 8 1071 c.672A>T c.(670-672)atA>atT p.I224I STK3_ENST00000419617.2_Silent_p.I196I NM_001256312.1 NP_001243241.1 Q13188 STK3_HUMAN serine/threonine kinase 3 196 Protein kinase. apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) AGTTATAGCCTATTTCTTGAA 0.408000 39 87 0 0 1 0 0 NLGN3 54413 broad.mit.edu 37 X 70367798 70367798 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:70367798G>A ENST00000374051.3 + 2 521 c.199G>A c.(199-201)Gac>Aac p.D67N NLGN3_ENST00000358741.3_Missense_Mutation_p.D67N|NLGN3_ENST00000536169.1_Missense_Mutation_p.D67N NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 67 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) GGGGCCTGTGGACCAATACCT 0.647000 4 20 0 0 1 0 0 CAV3 859 broad.mit.edu 37 3 8787493 8787493 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:8787493C>G ENST00000343849.2 + 2 473 c.396C>G c.(394-396)ctC>ctG p.L132L CAV3_ENST00000397368.2_Silent_p.L132L|CAV3_ENST00000472766.1_Intron NM_001234.4|NM_033337.2 NP_001225.1|NP_203123.1 P56539 CAV3_HUMAN caveolin 3 132 cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1) 11 GCAACCCACTCTTCGCGGCCC 0.607000 24 66 0 0 1 0 0 NXF4 55999 broad.mit.edu 37 X 101826197 101826197 + RNA SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:101826197C>G ENST00000360035.2 + 0 3337 NR_002216.1 endometrium(2)|lung(8) 10 TTTCACTATTCTCCAGGTGAG 0.488000 6 14 0 0 1 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382448 41382448 + Nonsense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:41382448G>A ENST00000377801.3 - 2 366 c.292C>T c.(292-294)Cga>Tga p.R98* PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.R98* Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 98 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity p.R98*(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GTGGAAATTCGAAGATCAAAA 0.443000 23 63 0 0 1 0 0 CRHBP 1393 broad.mit.edu 37 5 76259175 76259175 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:76259175C>T ENST00000274368.4 + 6 1123 c.701C>T c.(700-702)tCa>tTa p.S234L CRHBP_ENST00000514258.1_3'UTR NM_001882.3 NP_001873.2 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 234 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) TAGAAATCCTCAGCAGGTTGC 0.463000 20 84 0 0 1 0 0 KIAA0232 9778 broad.mit.edu 37 4 6862709 6862709 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:6862709C>G ENST00000307659.5 + 7 1055 c.600C>G c.(598-600)gtC>gtG p.V200V KIAA0232_ENST00000425103.1_Silent_p.V200V NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 200 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 AGTCTAAAGTCTGTTCTTACT 0.438000 14 71 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94208915 94208915 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:94208915C>G ENST00000515393.1 - 13 1964 c.1965G>C c.(1963-1965)ctG>ctC p.L655L MCTP1_ENST00000505078.1_Silent_p.L171L|MCTP1_ENST00000429576.2_Silent_p.L388L|MCTP1_ENST00000312216.8_Silent_p.L434L|MCTP1_ENST00000505208.1_Silent_p.L434L NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 655 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TATCGTTGTTCAGTTCTACCA 0.373000 18 28 0 0 1 0 0 SDC2 6383 broad.mit.edu 37 8 97620648 97620648 + Missense_Mutation SNP A A G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:97620648A>G ENST00000302190.4 + 4 1313 c.392A>G c.(391-393)tAt>tGt p.Y131C SDC2_ENST00000519914.1_Missense_Mutation_p.Y102C|SDC2_ENST00000518385.1_Missense_Mutation_p.Y95C|SDC2_ENST00000522911.1_Missense_Mutation_p.Y102C NM_002998.3 NP_002989.2 P34741 SDC2_HUMAN syndecan 2 131 integral to plasma membrane cytoskeletal protein binding|PDZ domain binding breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2) 16 Breast(36;3.41e-05) Sargramostim(DB00020) ACAAATGTGTATACTGAGAAA 0.483000 12 39 0 0 1 0 0 KREMEN1 83999 broad.mit.edu 37 22 29533341 29533341 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:29533341G>A ENST00000400338.2 + 6 696 c.643G>A c.(643-645)Gcc>Acc p.A215T KREMEN1_ENST00000327813.5_Missense_Mutation_p.A215T|KREMEN1_ENST00000400335.4_Missense_Mutation_p.A215T|KREMEN1_ENST00000407188.1_Missense_Mutation_p.A213T Q96MU8 KREM1_HUMAN kringle containing transmembrane protein 1 213 CUB. cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 20 TCTCGTGGGCGCCTGCGGTGG 0.592000 12 73 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31628062 31628062 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr20:31628062C>A ENST00000349552.1 + 11 1080 c.1080C>A c.(1078-1080)ttC>ttA p.F360L NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 360 extracellular region lipid binding GCCAGCACTTCAATCTGAAGG 0.587000 5 44 0.000602214 0.000620913 1 1 0 CHCHD5 84269 broad.mit.edu 37 2 113343940 113343940 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:113343940G>C ENST00000409719.1 + 3 360 c.307G>C c.(307-309)Gag>Cag p.E103Q CHCHD5_ENST00000489052.1_3'UTR|CHCHD5_ENST00000324913.5_Missense_Mutation_p.E103Q Q9BSY4 CHCH5_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 5 103 NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1) 7 TGCAACTGTGGAGGTAAGAGG 0.562000 8 37 0 0 1 0 0 ARHGEF26 26084 broad.mit.edu 37 3 153840609 153840609 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:153840609C>G ENST00000356448.4 + 2 1112 c.828C>G c.(826-828)ctC>ctG p.L276L ARHGEF26_ENST00000465817.1_Silent_p.L276L|ARHGEF26_ENST00000465093.1_Silent_p.L276L NM_001251962.1 NP_001238891.1 Q96DR7 ARHGQ_HUMAN Rho guanine nucleotide exchange factor (GEF) 26 276 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 AGAGACTCCTCAAGGTGCGCA 0.542000 3 12 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24878189 24878189 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:24878189C>G ENST00000382554.3 + 4 1507 c.1189C>G c.(1189-1191)Ctg>Gtg p.L397V NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 397 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GCAGAGACCTCTGGGCCCCAT 0.547000 4 11 0 0 1 0 0 GATA3-AS1 399717 broad.mit.edu 37 10 8092836 8092836 + RNA SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:8092836C>T ENST00000355358.1 - 0 1790 NR_024256.1 TTTAGGACTTCGACCCCGGGG 0.672000 5 4 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131844337 131844337 + Missense_Mutation SNP T T C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:131844337T>C ENST00000359827.3 - 25 5517 c.4555A>G c.(4555-4557)Atc>Gtc p.I1519V PLXNA4_ENST00000321063.4_Missense_Mutation_p.I1519V Q9HCM2 PLXA4_HUMAN plexin A4 1519 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CAGTTGAGGATCTTTACTGGG 0.532000 42 165 0 0 1 0 0 UBE2U 148581 broad.mit.edu 37 1 64680524 64680524 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:64680524G>C ENST00000371076.3 + 5 610 c.366G>C c.(364-366)gaG>gaC p.E122D NM_152489.1 NP_689702.1 Q5VVX9 UBE2U_HUMAN ubiquitin-conjugating enzyme E2U (putative) 122 ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(3)|lung(2)|skin(1) 6 CAGTGCTAGAGAATCCAGTGA 0.333000 26 75 0 0 1 0 0 C1orf162 128346 broad.mit.edu 37 1 112019436 112019436 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:112019436C>G ENST00000343534.5 + 3 304 c.54C>G c.(52-54)ctC>ctG p.L18L C1orf162_ENST00000464591.1_3'UTR|C1orf162_ENST00000369718.3_Silent_p.L18L NM_174896.2 NP_777556.1 Q8NEQ5 CA162_HUMAN chromosome 1 open reading frame 162 18 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1) 5 all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134) AAGGCACTCTCTCCACAGCAG 0.458000 34 100 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27106512 27106512 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:27106512G>A ENST00000324856.7 + 20 6494 c.6123G>A c.(6121-6123)gtG>gtA p.V2041V ARID1A_ENST00000374152.2_Silent_p.V1658V|ARID1A_ENST00000540690.1_Silent_p.V369V|ARID1A_ENST00000457599.2_Silent_p.V1824V NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2041 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ACCAAGGGGTGAGCTGCAACA 0.552000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 14 62 0 0 1 0 0 OSTM1 28962 broad.mit.edu 37 6 108372309 108372309 + Nonsense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:108372309C>A ENST00000193322.3 - 4 794 c.709G>T c.(709-711)Gaa>Taa p.E237* NM_014028.3 NP_054747.2 Q86WC4 OSTM1_HUMAN osteopetrosis associated transmembrane protein 1 237 integral to membrane central_nervous_system(2)|endometrium(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 8 all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938) BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581) TTTTGCATTTCACTGTACAGA 0.353000 15 50 6.31663e-08 6.67718e-08 1 1 0 DNAH5 1767 broad.mit.edu 37 5 13866331 13866331 + Nonsense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:13866331G>A ENST00000265104.4 - 26 4218 c.4114C>T c.(4114-4116)Cag>Tag p.Q1372* CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1372 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAGATTACCTGAAACATGATA 0.358000 Kartagener syndrome 3 27 0 0 1 0 0 ALDH3A2 224 broad.mit.edu 37 17 19559772 19559772 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:19559772G>T ENST00000176643.6 + 4 1011 c.565G>T c.(565-567)Gtt>Ttt p.V189F ALDH3A2_ENST00000339618.4_Missense_Mutation_p.V189F|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.V189F|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.V189F|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.V189F P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 189 cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development endoplasmic reticulum membrane|integral to membrane 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) NADH(DB00157) AAACACTGCGGTTGGCAAAAT 0.443000 25 81 2.48779e-11 2.67681e-11 1 1 0 USP37 57695 broad.mit.edu 37 2 219423311 219423311 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:219423311C>A ENST00000258399.3 - 4 478 c.66G>T c.(64-66)tgG>tgT p.W22C USP37_ENST00000454775.1_Missense_Mutation_p.W22C|USP37_ENST00000338465.5_Missense_Mutation_p.W22C|USP37_ENST00000418019.1_Missense_Mutation_p.W22C|USP37_ENST00000415516.1_Intron NM_020935.2 NP_065986 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 22 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) ATCCTTCTTTCCACTTTGTAA 0.343000 33 127 1.99505e-19 2.20325e-19 1 1 0 C19orf73 55150 broad.mit.edu 37 19 49622065 49622065 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:49622065G>A ENST00000408991.2 - 1 332 c.215C>T c.(214-216)tCc>tTc p.S72F NM_018111.2 NP_060581.2 Q9NVV2 CS073_HUMAN chromosome 19 open reading frame 73 72 large_intestine(1)|lung(2) 3 GGGCGGGGCGGAGCGAACCAT 0.692000 37 30 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185631 127185631 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:127185631C>T ENST00000371124.3 - 1 751 c.555G>A c.(553-555)ggG>ggA p.G185G NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 185 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 TGATGTCCCTCCCTGCCATAC 0.537000 16 67 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73071200 73071200 + RNA SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:73071200G>A ENST00000429829.1 - 0 1388 NR_001564.2 ACTGCGGCAAGACCTTCAGCC 0.527000 21 180 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48125064 48125064 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:48125064G>C ENST00000311303.3 - 23 3597 c.3252C>G c.(3250-3252)ttC>ttG p.F1084L ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 1084 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) CCACGGAGGTGAATTTGGCTT 0.517000 59 65 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5211777 5211777 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:5211777C>T ENST00000372412.4 - 33 5294 c.5061G>A c.(5059-5061)cgG>cgA p.R1687R PTPRS_ENST00000348075.2_Silent_p.R1648R|PTPRS_ENST00000353284.2_Silent_p.R1239R|PTPRS_ENST00000357368.4_Silent_p.R1686R|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Silent_p.R1666R|PTPRS_ENST00000587303.1_Silent_p.R1686R|PTPRS_ENST00000588012.1_Silent_p.R1648R|PTPRS_ENST00000592099.1_Silent_p.R1239R Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1686 Tyrosine-protein phosphatase 2. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) AGTTAGCCAGCCGCTGTGGGG 0.562000 7 35 0 0 1 0 0 TRAPPC4 51399 broad.mit.edu 37 11 118890872 118890872 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:118890872C>G ENST00000533632.1 + 3 727 c.363C>G c.(361-363)atC>atG p.I121M TRAPPC4_ENST00000528230.1_Missense_Mutation_p.I78M|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.I121M|TRAPPC4_ENST00000434101.2_Intron|TRAPPC4_ENST00000525303.1_Intron|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.I121M NM_016146.4 NP_057230.1 Q9Y296 TPPC4_HUMAN trafficking protein particle complex 4 121 dendrite development|ER to Golgi vesicle-mediated transport cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle protein binding NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243) BRCA - Breast invasive adenocarcinoma(274;7.58e-05) TCTTTGCCATCGGCTCCCAGC 0.488000 10 47 0 0 1 0 0 SDPR 8436 broad.mit.edu 37 2 192711334 192711334 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:192711334G>C ENST00000304141.4 - 1 647 c.318C>G c.(316-318)tcC>tcG p.S106S AC098617.1_ENST00000424116.2_RNA NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 106 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TGTTGCTGGTGGAGGCCTGGT 0.597000 11 43 0 0 1 0 0 OR9G4 283189 broad.mit.edu 37 11 56510367 56510367 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:56510367C>T ENST00000302957.3 - 1 920 c.921G>A c.(919-921)ctG>ctA p.L307L NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 307 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CTTTGTTTCTCAGGCTATAGA 0.428000 18 107 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87762245 87762245 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:87762245G>A ENST00000398204.4 + 12 1379 c.1056G>A c.(1054-1056)ctG>ctA p.L352L ADAM22_ENST00000265727.7_Silent_p.L352L|ADAM22_ENST00000398201.4_Silent_p.L352L|ADAM22_ENST00000398209.3_Silent_p.L352L|ADAM22_ENST00000315984.7_Silent_p.L352L NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 352 Peptidase M12B. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) GCTCGTTGCTGAAAGGAGGAG 0.408000 19 74 0 0 1 0 0 E2F1 1869 broad.mit.edu 37 20 32268189 32268189 + Nonsense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr20:32268189G>A ENST00000343380.5 - 2 434 c.295C>T c.(295-297)Cag>Tag p.Q99* NM_005225.2 NP_005216.1 Q01094 E2F1_HUMAN E2F transcription factor 1 99 Cyclin A/CDK2 binding. KRRLDLETDHQYLAESSGPARGR -> RTPGTPRRQRRLCP PRRPGRAPC (in Ref. 8; AAD14150). apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle mitochondrion|Rb-E2F complex sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 16 GCCAGGTACTGATGGTCAGTT 0.622000 14 30 0 0 1 0 0 BUD31 8896 broad.mit.edu 37 7 99013881 99013881 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:99013881G>A ENST00000403633.2 + 4 744 c.215G>A c.(214-216)aGa>aAa p.R72K BUD31_ENST00000431419.1_Missense_Mutation_p.R43K|BUD31_ENST00000222969.5_Missense_Mutation_p.R72K|BUD31_ENST00000456893.1_Intron P41223 BUD31_HUMAN BUD31 homolog (S. cerevisiae) 72 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1) 4 all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GCCATCAGCAGAGGTAATTAG 0.473000 14 56 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34011403 34011403 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr21:34011403G>C ENST00000382499.2 - 31 3846 c.3847C>G c.(3847-3849)Cag>Gag p.Q1283E SYNJ1_ENST00000357345.3_Missense_Mutation_p.Q1228E|SYNJ1_ENST00000382491.3_Missense_Mutation_p.Q1197E|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Q1283E|SYNJ1_ENST00000322229.7_Missense_Mutation_p.Q1244E NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 1244 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 AAAGCAGCCTGAGGCTTCAGT 0.488000 16 53 0 0 1 0 0 ZNF146 7705 broad.mit.edu 37 19 36727581 36727581 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:36727581C>T ENST00000456324.1 + 3 1688 c.239C>T c.(238-240)tCa>tTa p.S80L ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000443387.2_Missense_Mutation_p.S80L NM_001099638.1|NM_001099639.1 NP_001093108.1|NP_001093109.1 Q15072 OZF_HUMAN zinc finger protein 146 80 regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Esophageal squamous(110;0.162) TGTGGAAAATCATTTAGCCAG 0.398000 15 74 0 0 1 0 0 PNCK 139728 broad.mit.edu 37 X 152935946 152935946 + Nonsense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:152935946G>C ENST00000393831.2 - 11 1501 c.1067C>G c.(1066-1068)tCa>tGa p.S356* PNCK_ENST00000370150.1_Nonsense_Mutation_p.S333*|PNCK_ENST00000370142.1_Nonsense_Mutation_p.S356*|PNCK_ENST00000340888.3_Nonsense_Mutation_p.S333*|PNCK_ENST00000447676.2_Nonsense_Mutation_p.S416*|PNCK_ENST00000370145.4_Nonsense_Mutation_p.S350* NM_001039582.3 NP_001034671.3 Q6P2M8 KCC1B_HUMAN pregnancy up-regulated nonubiquitous CaM kinase 333 cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACGGAGGCCTGAGTGGCTGTG 0.672000 3 9 0 0 1 0 0 DUSP8 1850 broad.mit.edu 37 11 1579102 1579102 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:1579102G>C ENST00000397374.3 - 6 870 c.743C>G c.(742-744)gCt>gGt p.A248G DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Missense_Mutation_p.A248G NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 248 Tyrosine-protein phosphatase. inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 all_epithelial(84;0.000134)|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;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) GGAGATGCCAGCCAGACAGTG 0.617000 12 28 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15617559 15617559 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:15617559G>C ENST00000378076.3 - 24 2760 c.2407C>G c.(2407-2409)Cat>Gat p.H803D NM_003638.1 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 803 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TCCCAGTTATGAATGGGCAGA 0.443000 55 58 0 0 1 0 0 REXO2 25996 broad.mit.edu 37 11 114310358 114310358 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:114310358G>A ENST00000265881.5 + 1 251 c.108G>A c.(106-108)ggG>ggA p.G36G REXO2_ENST00000539754.1_Silent_p.G36G|RP11-212D19.4_ENST00000544347.1_Intron|REXO2_ENST00000544196.1_Silent_p.G36G|REXO2_ENST00000539275.1_Silent_p.G36G NM_015523.3 NP_056338.2 Q9Y3B8 ORN_HUMAN RNA exonuclease 2 36 nucleotide metabolic process mitochondrion|nucleus 3'-5' exonuclease activity|nucleic acid binding cervix(1)|endometrium(1)|kidney(1)|lung(1) 4 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494) TGGCGGCAGGGGAGAGCATGG 0.697000 OREG0021351 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 17 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 32110084 32110084 + Translation_Start_Site SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:32110084G>C ENST00000396191.1 - 0 377 PDE1C_ENST00000396184.3_Intron|PDE1C_ENST00000321453.7_Intron|PDE1C_ENST00000396182.2_De_novo_Start_InFrame|PDE1C_ENST00000396193.1_Intron NM_001191057.1 NP_001177986.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CCCAGCTCGCGATGCCCAGCC 0.672000 6 9 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67267925 67267925 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:67267925C>G ENST00000258201.4 - 13 1928 c.1681G>C c.(1681-1683)Gag>Cag p.E561Q NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 561 FH1. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding 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) TCCACAGACTCTACATTCAGC 0.617000 9 35 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72412747 72412747 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:72412747G>C ENST00000395270.1 + 14 2461 c.1420G>C c.(1420-1422)Gag>Cag p.E474Q POM121_ENST00000434423.2_Missense_Mutation_p.E739Q|POM121_ENST00000446813.1_Missense_Mutation_p.E474Q|POM121_ENST00000358357.3_Missense_Mutation_p.E474Q|POM121_ENST00000257622.4_Missense_Mutation_p.E474Q NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 739 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) ACCCAAGAGTGAGAAGGAAGG 0.627000 6 24 0 0 1 0 0 SESN3 143686 broad.mit.edu 37 11 94908802 94908802 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:94908802C>G ENST00000536441.1 - 9 1588 c.1252G>C c.(1252-1254)Gat>Cat p.D418H RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.D279H NM_001271594.1|NM_144665.2 NP_001258523.1|NP_653266.2 P58005 SESN3_HUMAN sestrin 3 418 cell cycle arrest nucleus endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1) 16 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.234) TCATAGTCATCATACCTACGA 0.308000 5 17 0 0 1 0 0 SLX4IP 128710 broad.mit.edu 37 20 10601965 10601965 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr20:10601965G>C ENST00000334534.5 + 7 589 c.409G>C c.(409-411)Gaa>Caa p.E137Q NM_001009608.1 NP_001009608.1 SLX4 interacting protein GGAGTAGACAGAAAGAGTTCT 0.403000 5 32 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38637021 38637021 + Splice_Site SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:38637021C>T ENST00000254051.6 - 9 1831 c.e9-1 NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) CCTCCCAGTTCTGAGCCAAGG 0.597000 7 23 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92731256 92731256 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:92731256C>A ENST00000379958.2 - 3 4424 c.4155G>T c.(4153-4155)aaG>aaT p.K1385N NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1385 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TGAAATTTAGCTTTTCTTTTG 0.353000 42 45 1.47197e-15 1.61631e-15 1 1 0 PCDH9 5101 broad.mit.edu 37 13 66878845 66878845 + Missense_Mutation SNP A A G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr13:66878845A>G ENST00000544246.1 - 5 4347 c.3656T>C c.(3655-3657)cTg>cCg p.L1219P PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.L1185P|PCDH9_ENST00000377865.2_Missense_Mutation_p.L1219P|PCDH9_ENST00000456367.1_Missense_Mutation_p.L1185P NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 1219 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) ATAAGACTTCAGATTTGCCAG 0.443000 4 35 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27492442 27492442 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:27492442G>A ENST00000356183.4 - 27 4169 c.4154C>T c.(4153-4155)tCt>tTt p.S1385F GTF3C1_ENST00000561623.1_Missense_Mutation_p.S1385F NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1385 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 TTCAAGGTTAGAATTCCTTAG 0.473000 51 46 0 0 1 0 0 ACTN1 87 broad.mit.edu 37 14 69346680 69346680 + Splice_Site SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:69346680C>T ENST00000193403.6 - 18 2662 c.2279G>A c.(2278-2280)cGg>cAg p.R760Q ACTN1_ENST00000394419.4_Splice_Site_p.R760Q|ACTN1_ENST00000538545.2_Splice_Site_p.R760Q|ACTN1_ENST00000376839.3_Splice_Site_p.R695Q|ACTN1_ENST00000438964.2_Splice_Site_p.R760Q NM_001102.3 NP_001093.1 P12814 ACTN1_HUMAN actinin, alpha 1 760 EF-hand 1. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GGCTCTCACCCGGTCAAAGTG 0.612000 6 16 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12130067 12130067 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:12130067G>C ENST00000379388.2 + 5 6483 c.6151G>C c.(6151-6153)Gat>Cat p.D2051H HIVEP1_ENST00000541134.1_Intron NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2051 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CAGTGAGCAAGATAAAGAAAA 0.308000 9 47 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29647256 29647256 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:29647256C>G ENST00000323874.8 + 27 3875 c.3765C>G c.(3763-3765)ccC>ccG p.P1255P PTPRU_ENST00000356870.3_Silent_p.P1255P|PTPRU_ENST00000460170.2_Silent_p.P1255P|PTPRU_ENST00000373779.3_Silent_p.P1249P|PTPRU_ENST00000345512.3_Silent_p.P1259P|PTPRU_ENST00000428026.2_Silent_p.P1246P Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1259 Tyrosine-protein phosphatase 2. canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GCACCACGCCCGACTTCTGGC 0.642000 12 33 0 0 1 0 0 NELL2 4753 broad.mit.edu 37 12 44926496 44926496 + Nonsense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:44926496C>A ENST00000429094.2 - 16 2176 c.1672G>T c.(1672-1674)Gaa>Taa p.E558* NELL2_ENST00000437801.2_Nonsense_Mutation_p.E608*|NELL2_ENST00000549027.1_Nonsense_Mutation_p.E557*|NELL2_ENST00000395487.2_Nonsense_Mutation_p.E557*|NELL2_ENST00000333837.4_Nonsense_Mutation_p.E581*|NELL2_ENST00000452445.2_Nonsense_Mutation_p.E558*|NELL2_ENST00000551601.1_Intron NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 558 EGF-like 5; calcium-binding (Potential). cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TCAGAGCATTCATCAATGTCT 0.368000 14 59 6.81908e-15 7.47073e-15 1 1 0 MST1 4485 broad.mit.edu 37 3 49723877 49723877 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:49723877G>A ENST00000449682.2 - 8 1246 c.885C>T c.(883-885)gtC>gtT p.V295V MST1_ENST00000545762.1_3'UTR|MST1_ENST00000383728.3_Silent_p.V220V NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 281 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GGAAGCAGCTGACAGTTGTGG 0.662000 11 26 0 0 1 0 0 KRT33B 3884 broad.mit.edu 37 17 39525672 39525672 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:39525672C>G ENST00000251646.3 - 1 380 c.331G>C c.(331-333)Gag>Cag p.E111Q NM_002279.4 NP_002270.1 Q14525 KT33B_HUMAN keratin 33B 111 Coil 1B.|Rod. intermediate filament protein binding|structural molecule activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 21 Breast(137;0.000496) TGGAGCTCCTCAATGGTCTTG 0.532000 17 29 0 0 1 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159614545 159614545 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:159614545G>A ENST00000337808.6 + 8 2023 c.1446G>A c.(1444-1446)gaG>gaA p.E482E IQCJ-SCHIP1_ENST00000527095.1_Silent_p.E250E|SCHIP1_ENST00000482804.1_Silent_p.E255E|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.E469E|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.E558E|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.E531E|SCHIP1_ENST00000445224.2_Silent_p.E239E NM_001197107.1|NM_014575.3 NP_001184036.1|NP_055390.1 Q9P0W5 SCHI1_HUMAN 482 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 ACATGGCAGAGAAAATGCCTG 0.373000 6 27 0 0 1 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7655762 7655762 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:7655762G>C ENST00000299492.4 + 13 1561 c.1173G>C c.(1171-1173)ttG>ttC p.L391F PPFIBP2_ENST00000533792.1_Missense_Mutation_p.L233F|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.L279F|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.L248F NM_003621.3 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 (liprin beta 2) 391 cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) TAGAAGACTTGAGAAGTGAAT 0.398000 17 86 0 0 1 0 0 C2orf54 79919 broad.mit.edu 37 2 241831158 241831158 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:241831158C>T ENST00000307486.8 - 2 188 c.90G>A c.(88-90)ctG>ctA p.L30L C2orf54_ENST00000402775.2_Silent_p.L11L|C2orf54_ENST00000388934.4_Silent_p.L179L NM_001282921.1 NP_001269850.1 Q08AI8 CB054_HUMAN chromosome 2 open reading frame 54 179 haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1) 6 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) GCTCCTCCCTCAGGCTGGCCG 0.652000 16 28 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22249057 22249057 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:22249057C>A ENST00000324559.8 + 7 890 c.573C>A c.(571-573)ttC>ttA p.F191L NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 191 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTGCACAATTCAGCAGACATC 0.473000 9 47 0.000442599 0.000457321 1 1 0 EML2 24139 broad.mit.edu 37 19 46120942 46120942 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:46120942G>A ENST00000536630.1 - 16 1847 c.1709C>T c.(1708-1710)tCa>tTa p.S570L EML2_ENST00000245925.3_Missense_Mutation_p.S423L|EML2_ENST00000587152.1_Missense_Mutation_p.S624L|EML2_ENST00000589876.1_Missense_Mutation_p.S423L NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 423 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) GAAGCCGGCTGAGCGGGCAGG 0.607000 8 11 0 0 1 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204380369 204380369 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:204380369C>G ENST00000367188.4 - 1 550 c.171G>C c.(169-171)gaG>gaC p.E57D RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 57 regulation of translation breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) TGACCCGAGTCTCGGGCTGGG 0.582000 22 92 0 0 1 0 0 CLEC12B 387837 broad.mit.edu 37 12 10167319 10167319 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:10167319G>A ENST00000396502.1 + 3 516 c.388G>A c.(388-390)Gag>Aag p.E130K CLEC12B_ENST00000338896.5_Missense_Mutation_p.E130K NM_205852.2 NP_995324.2 Q2HXU8 CL12B_HUMAN C-type lectin domain family 12, member B 130 integral to membrane|plasma membrane receptor activity|sugar binding central_nervous_system(2)|large_intestine(2)|lung(5) 9 ACTGTGCCAAGAGCTAATCAT 0.448000 11 20 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 5 54 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57113652 57113652 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:57113652C>T ENST00000454682.1 - 3 1943 c.1662G>A c.(1660-1662)aaG>aaA p.K554K NACA_ENST00000550952.1_Silent_p.K554K|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 28 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TAGGGTCTTTCTTGGTGGTGA 0.468000 T BCL6 NHL 9 15 0 0 1 0 0 GPBP1L1 60313 broad.mit.edu 37 1 46093957 46093957 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:46093957C>T ENST00000355105.3 - 13 2756 c.1396G>A c.(1396-1398)Gaa>Aaa p.E466K GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000290795.3_Missense_Mutation_p.E466K NM_021639.4 NP_067652.1 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding GPBP1L1/MAST2_ENST00000361297(2) breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1) 21 Acute lymphoblastic leukemia(166;0.155) TCTGATGTTTCACTGCTACTG 0.458000 97 187 0 0 1 0 0 C10orf137 26098 broad.mit.edu 37 10 127429670 127429670 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:127429670G>C ENST00000337623.3 + 16 2274 c.2169G>C c.(2167-2169)caG>caC p.Q723H C10orf137_ENST00000356792.4_Missense_Mutation_p.Q757H NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 757 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TGCTGGCCCAGAATGCAAATA 0.428000 20 46 0 0 1 0 0 GPR75-ASB3 100302652 broad.mit.edu 37 2 53978035 53978035 + Missense_Mutation SNP G G C rs35388971 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:53978035G>C ENST00000263634.3 - 3 374 c.240C>G c.(238-240)ttC>ttG p.F80L GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000406625.2_Missense_Mutation_p.F115L|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.F118L|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.F7L|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.F7L NM_016115.4 NP_057199.1 Q2TAI4 Q2TAI4_HUMAN 115 intracellular signal transduction GCAAAGCACAGAAACCTTCAA 0.383000 65 53 0 0 1 0 0 VNN2 8875 broad.mit.edu 37 6 133072427 133072427 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:133072427C>T ENST00000326499.6 - 5 1181 c.1057G>A c.(1057-1059)Gaa>Aaa p.E353K VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Missense_Mutation_p.E300K NM_004665.2 NP_004656 O95498 VNN2_HUMAN vanin 2 353 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CCTGCATTTTCAAAAAGTTCT 0.398000 20 64 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67092798 67092798 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:67092798G>C ENST00000284425.2 - 24 3439 c.3265C>G c.(3265-3267)Ctt>Gtt p.L1089V ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1089 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) CTTGTAATAAGAAGGTACTGC 0.299000 10 43 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124336080 124336080 + Nonsense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:124336080C>G ENST00000338354.3 + 7 555 c.449C>G c.(448-450)tCa>tGa p.S150* DMBT1_ENST00000368909.3_Nonsense_Mutation_p.S150*|DMBT1_ENST00000359586.6_Nonsense_Mutation_p.S150*|DMBT1_ENST00000368955.3_Nonsense_Mutation_p.S150*|DMBT1_ENST00000344338.3_Nonsense_Mutation_p.S150*|DMBT1_ENST00000330163.4_Nonsense_Mutation_p.S150*|DMBT1_ENST00000368956.2_Nonsense_Mutation_p.S150* Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 150 SRCR 1. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGGGCCATGTCAGCTCCAGGA 0.602000 36 137 0 0 1 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939599 12939599 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:12939599C>G ENST00000235349.5 - 4 1273 c.1203G>C c.(1201-1203)ctG>ctC p.L401L NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 401 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTGTGTGGCTCAGCAGGTTCT 0.537000 116 255 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21068999 21068999 + Missense_Mutation SNP T T A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:21068999T>A ENST00000381545.3 + 16 2146 c.1927T>A c.(1927-1929)Ttc>Atc p.F643I LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.F643I|SLCO1B7_ENST00000554957.1_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 643 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) ATATATTGTTTTCATTTTTGC 0.299000 5 82 0 0 1 0 0 NFE2L3 9603 broad.mit.edu 37 7 26217662 26217662 + Nonsense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:26217662C>T ENST00000056233.3 + 2 929 c.670C>T c.(670-672)Cag>Tag p.Q224* NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 224 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 GAACTCACTTCAGCAGAATGA 0.438000 13 26 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34003394 34003394 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr21:34003394G>C ENST00000382491.3 - 28 4616 c.4492C>G c.(4492-4494)Ctg>Gtg p.L1498V SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.L1584V|SYNJ1_ENST00000322229.7_Missense_Mutation_p.L1545V|SYNJ1_ENST00000382499.2_3'UTR NM_001160306.1 NP_001153778.1 O43426 SYNJ1_HUMAN synaptojanin 1 1545 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GGCGGGAGCAGAGGGACAGGA 0.517000 15 44 0 0 1 0 0 ZCCHC24 219654 broad.mit.edu 37 10 81192416 81192416 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:81192416C>T ENST00000372333.3 - 2 216 c.166G>A c.(166-168)Gac>Aac p.D56N ZCCHC24_ENST00000372336.3_Silent_p.L115L Q8N2G6 ZCH24_HUMAN zinc finger, CCHC domain containing 24 31 nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1) 9 AGGTGAGGGTCAGGTCTGAGA 0.612000 13 21 0 0 1 0 0 CRISPLD1 83690 broad.mit.edu 37 8 75926323 75926323 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:75926323C>T ENST00000262207.4 + 5 1080 c.612C>T c.(610-612)tgC>tgT p.C204C CRISPLD1_ENST00000517786.1_Intron|CRISPLD1_ENST00000523524.1_Silent_p.C16C NM_031461.5 NP_113649.1 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain containing 1 204 extracellular region biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) ACCTGGTGTGCAATTACTCCC 0.408000 13 42 0 0 1 0 0 MANSC1 54682 broad.mit.edu 37 12 12483053 12483053 + Missense_Mutation SNP C C T rs138511907 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:12483053C>T ENST00000535902.1 - 4 1767 c.1204G>A c.(1204-1206)Gtc>Atc p.V402I MANSC1_ENST00000396349.3_Missense_Mutation_p.V368I|MANSC1_ENST00000545735.1_Missense_Mutation_p.V321I Q9H8J5 MANS1_HUMAN MANSC domain containing 1 402 integral to membrane breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4) 23 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) CCCAGGAGGACGAGGCCTATC 0.483000 9 28 0 0 1 0 0 MAP4K2 5871 broad.mit.edu 37 11 64557919 64557919 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:64557919G>A ENST00000294066.2 - 28 2199 c.2108C>T c.(2107-2109)tCg>tTg p.S703L MAP4K2_ENST00000377350.3_Missense_Mutation_p.S695L NM_004579.3 NP_004570.2 Q12851 M4K2_HUMAN mitogen-activated protein kinase kinase kinase kinase 2 703 CNH. activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting basolateral plasma membrane|Golgi membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 CTGCTGGGCCGAGCCTGGGAT 0.622000 6 27 0 0 1 0 0 DNHD1 144132 broad.mit.edu 37 11 6592004 6592004 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:6592004C>T ENST00000254579.6 + 42 13826 c.13262C>T c.(13261-13263)tCa>tTa p.S4421L DNHD1_ENST00000527990.2_Missense_Mutation_p.S4421L NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 4421 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CAGCGGAGTTCACCCGTGTGG 0.647000 5 11 0 0 1 0 0 IRF5 3663 broad.mit.edu 37 7 128588054 128588054 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:128588054C>T ENST00000402030.2 + 7 1083 c.1011C>T c.(1009-1011)atC>atT p.I337I IRF5_ENST00000249375.4_Silent_p.I337I|IRF5_ENST00000473745.1_Silent_p.I337I|IRF5_ENST00000477535.1_Silent_p.I251I|IRF5_ENST00000357234.5_Silent_p.I353I NM_001098629.1|NM_001098630.1 NP_001092099.1|NP_001092100.1 Q13568 IRF5_HUMAN interferon regulatory factor 5 337 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1) 15 TTTATGCCATCCGCCTGTGTC 0.597000 7 76 0 0 1 0 0 MAP3K7 6885 broad.mit.edu 37 6 91226369 91226369 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:91226369C>T ENST00000369329.3 - 17 1833 c.1672G>A c.(1672-1674)Gaa>Aaa p.E558K MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369325.3_Silent_p.*519*|MAP3K7_ENST00000369320.1_Missense_Mutation_p.E212K|MAP3K7_ENST00000369327.3_Silent_p.*492*|MAP3K7_ENST00000369332.3_Missense_Mutation_p.E531K NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 558 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) TGGTCCTTTTCATCCTGGTCC 0.368000 15 58 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36681372 36681372 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:36681372C>A ENST00000216181.5 - 38 5508 c.5278G>T c.(5278-5280)Gac>Tac p.D1760Y MYH9_ENST00000475726.1_5'UTR NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 1760 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 TTGATCTGGTCGATCTGCAGA 0.612000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 35 47 2.47316e-13 2.69113e-13 1 1 0 CPXM1 56265 broad.mit.edu 37 20 2776987 2776987 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr20:2776987C>A ENST00000380605.2 - 9 1212 c.1148G>T c.(1147-1149)cGa>cTa p.R383L NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 383 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 TGGGTTCCCTCGCAGGAACTC 0.627000 7 51 0.000157383 0.000163849 1 1 0 ZNF763 284390 broad.mit.edu 37 19 12089721 12089721 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:12089721C>G ENST00000343949.5 + 4 1146 c.991C>G c.(991-993)Ctt>Gtt p.L331V ZNF763_ENST00000590798.1_Missense_Mutation_p.L348V|ZNF763_ENST00000538752.1_Missense_Mutation_p.L348V|ZNF763_ENST00000358987.3_Missense_Mutation_p.L328V|ZNF763_ENST00000545530.1_Missense_Mutation_p.L206V NM_001012753.1 NP_001012771.1 zinc finger protein 763 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 CAGATCCTATCTTAGACATAA 0.408000 9 68 0 0 1 0 0 GMFG 9535 broad.mit.edu 37 19 39819122 39819122 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:39819122G>A ENST00000597595.1 - 7 632 c.424C>T c.(424-426)Cgt>Tgt p.R142C GMFG_ENST00000598034.1_3'UTR|GMFG_ENST00000594700.1_Missense_Mutation_p.R73C|GMFG_ENST00000602185.1_Missense_Mutation_p.R93C|GMFG_ENST00000253054.8_Missense_Mutation_p.R109C|GMFG_ENST00000601387.1_Missense_Mutation_p.R101C|GMFG_ENST00000600322.1_Missense_Mutation_p.R109C|GMFG_ENST00000595636.1_3'UTR NM_004877.2 NP_004868.1 O60234 GMFG_HUMAN glia maturation factor, gamma 142 protein phosphorylation intracellular actin binding|enzyme activator activity|growth factor activity|protein kinase inhibitor activity breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1) 10 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) AGAGATCAACGAAAGAAAGAC 0.498000 OREG0025458 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 57 0 0 1 0 0 CORO1B 57175 broad.mit.edu 37 11 67207599 67207599 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:67207599C>G ENST00000393893.1 - 9 1100 c.997G>C c.(997-999)Gag>Cag p.E333Q CORO1B_ENST00000341356.5_Missense_Mutation_p.E333Q|CORO1B_ENST00000539724.1_Intron NM_001018070.2 NP_001018080.1 Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 333 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) CGGGCGATCTCGCACTTGCTG 0.622000 9 35 0 0 1 0 0 C1orf131 128061 broad.mit.edu 37 1 231374697 231374697 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:231374697G>T ENST00000318906.2 - 2 384 c.356C>A c.(355-357)tCt>tAt p.S119Y C1orf131_ENST00000366649.2_Missense_Mutation_p.S119Y|C1orf131_ENST00000366651.3_Missense_Mutation_p.S119Y|C1orf131_ENST00000471936.1_5'UTR Q8NDD1 CA131_HUMAN chromosome 1 open reading frame 131 119 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 8 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) CTTTAGGGAAGAGGGAGGAAC 0.453000 20 40 8.10497e-08 8.55821e-08 1 1 0 PLP2 5355 broad.mit.edu 37 X 49028421 49028421 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:49028421G>A ENST00000376327.5 + 1 149 c.74G>A c.(73-75)gGa>gAa p.G25E PLP2_ENST00000376322.3_Missense_Mutation_p.G25E NM_002668.2 NP_002659.1 Q04941 PLP2_HUMAN proteolipid protein 2 (colonic epithelium-enriched) 25 MARVEL. chemotaxis|cytokine-mediated signaling pathway endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane chemokine binding|ion transmembrane transporter activity endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3) 13 ACTCGAAAGGGAATCCTCCTG 0.642000 4 24 0 0 1 0 0 ZNF286B 729288 broad.mit.edu 37 17 18566063 18566063 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:18566063G>C ENST00000545289.1 - 5 1006 c.756C>G c.(754-756)ctC>ctG p.L252L ZNF286B_ENST00000285274.5_3'UTR NM_001145045.1 NP_001138517.1 P0CG31 Z286B_HUMAN zinc finger protein 286B 252 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(1) 2 GGCAGGTGAAGAGTTCACCAC 0.358000 15 25 0 0 1 0 0 CCDC157 550631 broad.mit.edu 37 22 30772606 30772606 + Nonsense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:30772606G>T ENST00000405659.1 + 12 2840 c.2131G>T c.(2131-2133)Gag>Tag p.E711* CCDC157_ENST00000338306.3_Nonsense_Mutation_p.E711*|RP1-130H16.16_ENST00000332468.4_RNA Q569K6 CC157_HUMAN coiled-coil domain containing 157 711 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 GTCCTTGCTGGAGGGTGTGAC 0.647000 18 57 5.03518e-11 5.40567e-11 1 1 0 XIRP2 129446 broad.mit.edu 37 2 168101632 168101632 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:168101632G>A ENST00000409195.1 + 9 3819 c.3730G>A c.(3730-3732)Gaa>Aaa p.E1244K XIRP2_ENST00000409273.1_Missense_Mutation_p.E1022K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1244K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1069 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GTGGCTTTTTGAAAACCAACC 0.348000 6 37 0 0 1 0 0 PGAM2 5224 broad.mit.edu 37 7 44105092 44105092 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:44105092C>T ENST00000297283.3 - 1 94 c.37G>A c.(37-39)Gag>Aag p.E13K AC017116.11_ENST00000445938.1_RNA NM_000290.3 NP_000281.2 P15259 PGAM2_HUMAN phosphoglycerate mutase 2 (muscle) 13 gluconeogenesis|glycolysis|striated muscle contraction cytosol 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity large_intestine(2)|lung(4)|ovary(1)|stomach(1) 8 CATGTGCTCTCGCCGTGCCGG 0.622000 14 40 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977359 29977359 + RNA SNP G G A rs3831361 by1000genomes TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:29977359G>A ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA ATTTGTTCATGCCTTCCCTTT 0.453000 5 41 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31465481 31465481 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:31465481G>C ENST00000373747.3 - 7 1013 c.914C>G c.(913-915)tCt>tGt p.S305C PUM1_ENST00000424085.2_Intron|PUM1_ENST00000373741.4_Missense_Mutation_p.S341C|PUM1_ENST00000423018.2_Missense_Mutation_p.S209C|PUM1_ENST00000426105.2_Missense_Mutation_p.S305C|PUM1_ENST00000373742.2_Missense_Mutation_p.S245C|PUM1_ENST00000257075.5_Missense_Mutation_p.S305C|PUM1_ENST00000440538.2_Missense_Mutation_p.S305C NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 305 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding p.S305F(1) breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TTCATTAGCAGAGTTCTGGCA 0.493000 39 96 0 0 1 0 0 TKT 7086 broad.mit.edu 37 3 53275178 53275178 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:53275178G>A ENST00000462138.1 - 3 397 c.309C>T c.(307-309)atC>atT p.I103I TKT_ENST00000296289.6_Silent_p.I56I|TKT_ENST00000423516.1_Silent_p.I103I|TKT_ENST00000423525.2_Silent_p.I103I P29401 TKT_HUMAN transketolase 103 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) AGTCGGAGCTGATCTTCCTCA 0.637000 15 25 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112617073 112617073 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:112617073C>G ENST00000550722.1 - 63 11073 c.10678G>C c.(10678-10680)Gag>Cag p.E3560Q HECTD4_ENST00000377560.5_Missense_Mutation_p.E3534Q|HECTD4_ENST00000430131.2_Missense_Mutation_p.E3284Q NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TTGATCTGCTCTTTGCTAAGA 0.532000 23 17 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123820972 123820972 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:123820972C>G ENST00000420886.2 - 5 717 c.718G>C c.(718-720)Gaa>Caa p.E240Q SBNO1_ENST00000267176.4_Missense_Mutation_p.E239Q|SBNO1_ENST00000602398.1_Missense_Mutation_p.E240Q|SBNO1_ENST00000602750.1_Missense_Mutation_p.E239Q NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 240 ATP binding|DNA binding|hydrolase activity 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) GCATAGGTTTCTGCATGACCC 0.363000 7 30 0 0 1 0 0 DENND4A 10260 broad.mit.edu 37 15 66044729 66044729 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr15:66044729G>C ENST00000443035.3 - 4 764 c.549C>G c.(547-549)ctC>ctG p.L183L DENND4A_ENST00000431932.2_Silent_p.L183L NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 183 MABP. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TACTGTTATTGAGATTCTTGT 0.333000 6 37 0 0 1 0 0 ATP2B4 493 broad.mit.edu 37 1 203652429 203652429 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:203652429C>T ENST00000357681.5 + 2 1219 c.96C>T c.(94-96)ctC>ctT p.L32L ATP2B4_ENST00000367218.3_Silent_p.L32L|ATP2B4_ENST00000391954.2_Silent_p.L32L|ATP2B4_ENST00000367219.3_Silent_p.L32L|ATP2B4_ENST00000341360.2_Silent_p.L32L NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 32 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding p.L32L(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) TGAGGAAGCTCATGGAGCTGC 0.522000 43 94 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69969881 69969881 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:69969881C>G ENST00000359154.2 + 18 2069 c.1968C>G c.(1966-1968)gtC>gtG p.V656V WWP2_ENST00000568684.1_Silent_p.V217V|WWP2_ENST00000448661.1_Silent_p.V656V|WWP2_ENST00000356003.2_Silent_p.V656V|WWP2_ENST00000542271.1_Silent_p.V540V|WWP2_ENST00000544162.1_3'UTR NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 656 HECT. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACTCCATTGTCTGGATCAAGT 0.542000 15 37 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140449173 140449173 + Nonsense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:140449173G>A ENST00000288602.6 - 16 1966 c.1906C>T c.(1906-1908)Cag>Tag p.Q636* NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 636 Protein kinase. activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.Q636E(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) ACATCTGACTGAAAGCTGTAT 0.333000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 11 29 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538163 55538163 + Nonsense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:55538163C>G ENST00000220676.1 + 4 1869 c.1721C>G c.(1720-1722)tCa>tGa p.S574* NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 574 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TCAAATAACTCAATTGTGGAG 0.348000 9 62 0 0 1 0 0 HNRNPUL1 11100 broad.mit.edu 37 19 41810097 41810097 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:41810097G>C ENST00000392006.3 + 13 2366 c.2193G>C c.(2191-2193)aaG>aaC p.K731N HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.K731N|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.K631N|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.K617N|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.K642N|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.K631N|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.K631N NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 731 Necessary for interaction with TP53.|Pro-rich. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 CCTACAATAAGAACAGCAACA 0.612000 13 40 0 0 1 0 0 FGD4 121512 broad.mit.edu 37 12 32751511 32751511 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:32751511C>G ENST00000427716.2 + 5 1105 c.681C>G c.(679-681)ctC>ctG p.L227L FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000531134.1_Silent_p.L312L|FGD4_ENST00000381025.3_5'UTR|FGD4_ENST00000546442.1_Silent_p.L134L|FGD4_ENST00000534526.2_Silent_p.L364L|FGD4_ENST00000525053.1_Silent_p.L339L NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 227 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) GACTTGACCTCTTAGATCAGG 0.303000 7 154 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86488240 86488240 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:86488240G>T ENST00000370571.2 - 17 2549 c.2183C>A c.(2182-2184)cCc>cAc p.P728H COL24A1_ENST00000436319.1_Missense_Mutation_p.P728H NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 728 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) AGGATACCCGGGTTCTCCTAG 0.343000 20 51 2.21704e-12 2.39888e-12 1 1 0 NOC3L 64318 broad.mit.edu 37 10 96098452 96098452 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:96098452C>G ENST00000371361.3 - 18 2104 c.2004G>C c.(2002-2004)caG>caC p.Q668H NOC3L_ENST00000371350.1_Missense_Mutation_p.Q668H|NOC3L_ENST00000543788.1_Missense_Mutation_p.Q406H NM_022451.9 NP_071896.8 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog (S. cerevisiae) 668 nuclear speck|nucleolus binding endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1) 29 Colorectal(252;0.0897) CTCCACTTCCCTGAGATTCAC 0.433000 10 31 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151154611 151154611 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:151154611C>T ENST00000282466.3 - 6 7737 c.7738G>A c.(7738-7740)Gga>Aga p.G2580R MED12L_ENST00000474524.1_3'UTR|IGSF10_ENST00000495443.1_5'UTR NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 2580 Ig-like C2-type 12. cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGCTCACTTCCATGTGTCCTC 0.498000 18 66 0 0 1 0 0 ZIM2 23619 broad.mit.edu 37 19 57286545 57286545 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:57286545G>A ENST00000391708.3 - 12 1637 c.1095C>T c.(1093-1095)ttC>ttT p.F365F AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000593711.1_Silent_p.F365F|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000599935.1_Silent_p.F365F|ZIM2_ENST00000601070.1_Silent_p.F365F|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000221722.5_Silent_p.F365F NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) GCATGAGATAGAAGGCTTCAG 0.473000 66 94 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44083518 44083518 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:44083518G>A ENST00000359947.4 + 25 4647 c.4307G>A c.(4306-4308)aGg>aAg p.R1436K PTPRF_ENST00000372414.3_Missense_Mutation_p.R1436K|PTPRF_ENST00000422171.2_Missense_Mutation_p.R795K|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1427K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1427K NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1436 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GATTTCTGGAGGATGGTGTGG 0.617000 4 34 0 0 1 0 0 TBATA 219793 broad.mit.edu 37 10 72541683 72541683 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:72541683G>A ENST00000299290.1 - 4 540 c.151C>T c.(151-153)Cgg>Tgg p.R51W TBATA_ENST00000545575.1_Missense_Mutation_p.R41W|TBATA_ENST00000456372.2_Missense_Mutation_p.R51W NM_152710.2 NP_689923 thymus, brain and testes associated p.R51R(2) CGGCGGATCCGCTCGAAATCC 0.597000 25 59 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590576 140590576 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:140590576G>A ENST00000239450.2 + 1 2286 c.2097G>A c.(2095-2097)tcG>tcA p.S699S PCDHB12_ENST00000541609.1_Silent_p.S362S NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 699 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGTGTCGTCGCTCTTCCTCT 0.706000 26 71 0 0 1 0 0 PRDM13 59336 broad.mit.edu 37 6 100057121 100057121 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:100057121C>G ENST00000369215.4 + 3 640 c.335C>G c.(334-336)tCt>tGt p.S112C NM_021620.3 NP_067633.2 Q9H4Q3 PRD13_HUMAN PR domain containing 13 112 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1) 17 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) GTGTGGTATTCTAACTCCTTG 0.537000 7 12 0 0 1 0 0 WFDC6 140870 broad.mit.edu 37 20 44167971 44167971 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr20:44167971C>G ENST00000600168.1 - 1 163 c.76G>C c.(76-78)Gaa>Caa p.E26Q WFDC6_ENST00000372670.3_Missense_Mutation_p.E26Q|EPPIN_ENST00000555685.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron WAP four-disulfide core domain 6 breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 Myeloproliferative disorder(115;0.0122) AGGATGCCTTCAGCGTGCCCA 0.493000 13 48 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248344279 248344279 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:248344279C>T ENST00000359682.2 + 1 992 c.992C>T c.(991-993)tCc>tTc p.S331F NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 331 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 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;0.0245) TTTCTAATATCCATCTTTTTC 0.313000 38 81 0 0 1 0 0 MRS2 57380 broad.mit.edu 37 6 24409759 24409759 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:24409759G>C ENST00000378386.3 + 4 465 c.372G>C c.(370-372)atG>atC p.M124I MRS2_ENST00000443868.2_Missense_Mutation_p.M124I|MRS2_ENST00000483634.1_Intron|MRS2_ENST00000535061.1_Intron|MRS2_ENST00000274747.7_Intron|MRS2_ENST00000378353.1_Missense_Mutation_p.M124I|MRS2_ENST00000543597.1_5'UTR NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2 magnesium transporter 124 ion transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 AGCATGTAATGAGTATCACAG 0.308000 16 20 0 0 1 0 0 AQP1 358 broad.mit.edu 37 7 30951862 30951862 + Nonsense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:30951862C>G ENST00000311813.4 + 1 393 c.338C>G c.(337-339)tCa>tGa p.S113* AQP1_ENST00000434909.2_Nonsense_Mutation_p.S173*|AQP1_ENST00000509504.1_Nonsense_Mutation_p.S290* NM_198098.2 NP_932766.1 aquaporin 1 kidney(1)|large_intestine(2)|lung(9) 12 Melanoma(862;0.16) GCCATCCTCTCAGGCATCACC 0.617000 35 58 0 0 1 0 0 MAPK10 5602 broad.mit.edu 37 4 87028452 87028452 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:87028452C>A ENST00000395169.3 - 5 896 c.176G>T c.(175-177)aGa>aTa p.R59I MAPK10_ENST00000395166.1_Missense_Mutation_p.R59I|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395157.3_5'UTR|MAPK10_ENST00000395161.2_Missense_Mutation_p.R97I|MAPK10_ENST00000395160.3_5'UTR|MAPK10_ENST00000449047.2_5'UTR|MAPK10_ENST00000359221.3_Missense_Mutation_p.R97I|MAPK10_ENST00000361569.2_Missense_Mutation_p.R97I NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 97 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) CTGAAAGGGTCTGCTGAGCTT 0.428000 31 41 1.68575e-08 1.78787e-08 1 1 0 LINGO3 645191 broad.mit.edu 37 19 2290278 2290278 + Nonsense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:2290278C>A ENST00000585527.1 - 1 1745 c.1498G>T c.(1498-1500)Gag>Tag p.E500* LINGO3_ENST00000404279.1_Nonsense_Mutation_p.E500* P0C6S8 LIGO3_HUMAN leucine rich repeat and Ig domain containing 3 500 integral to membrane lung(1)|urinary_tract(1) 2 GCGGCCGGCTCGGGGCGCACG 0.736000 4 13 0.00909568 0.00922986 1 1 0 EFHD1 80303 broad.mit.edu 37 2 233546331 233546331 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:233546331G>C ENST00000264059.3 + 4 1099 c.622G>C c.(622-624)Gag>Cag p.E208Q EFHD1_ENST00000409708.1_Missense_Mutation_p.E96Q|EFHD1_ENST00000410095.1_Missense_Mutation_p.E96Q|EFHD1_ENST00000409613.1_Missense_Mutation_p.E112Q NM_025202.3 NP_079478.1 Q9BUP0 EFHD1_HUMAN EF-hand domain family, member D1 208 calcium ion binding|protein binding NS(1)|breast(1)|large_intestine(2)|lung(3) 7 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025) Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101) GTTTGAAGCAGAGTTGAAAGC 0.547000 26 71 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45857993 45857993 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:45857993C>G ENST00000391945.4 - 17 1737 c.1660G>C c.(1660-1662)Gag>Cag p.E554Q ERCC2_ENST00000391944.3_Missense_Mutation_p.E476Q NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 554 Mediates interaction with MMS19. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CGTACCTGCTCATACCAGGAG 0.602000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 41 45 0 0 1 0 0 C12orf40 283461 broad.mit.edu 37 12 40037665 40037665 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:40037665G>C ENST00000324616.5 + 3 302 c.148G>C c.(148-150)Gac>Cac p.D50H C12orf40_ENST00000398716.1_5'UTR|C12orf40_ENST00000405531.3_Missense_Mutation_p.D50H NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 50 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 TGTCAGCTTAGACATTCTTAA 0.294000 27 71 0 0 1 0 0 TONSL 4796 broad.mit.edu 37 8 145666128 145666128 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:145666128C>G ENST00000409379.3 - 9 1166 c.1137G>C c.(1135-1137)ctG>ctC p.L379L NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 379 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 TGCGCAGCCTCAGTTCCTCCT 0.642000 12 35 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187670 152187670 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:152187670C>G ENST00000368801.2 - 3 6510 c.6435G>C c.(6433-6435)agG>agC p.R2145S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 2145 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCGTTCACCCCTAGATGACT 0.582000 16 779 0 0 1 0 0 TRMT2A 27037 broad.mit.edu 37 22 20100205 20100205 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:20100205C>G ENST00000252136.7 - 12 2147 c.1759G>C c.(1759-1761)Gag>Cag p.E587Q TRMT2A_ENST00000403707.3_Missense_Mutation_p.E587Q|TRMT2A_ENST00000439169.2_Missense_Mutation_p.E605Q|TRMT2A_ENST00000404751.3_3'UTR NM_001257994.1|NM_022727.5|NM_182984.4 NP_001244923.1|NP_073564.3|NP_892029.2 Q8IZ69 TRM2A_HUMAN tRNA methyltransferase 2 homolog A (S. cerevisiae) 587 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(2)|endometrium(2)|lung(5) 9 TCCACCCTCTCAAACAGGATG 0.617000 5 39 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906398 164906398 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:164906398C>T ENST00000475390.1 - 2 2664 c.2221G>A c.(2221-2223)Gag>Aag p.E741K SLITRK3_ENST00000241274.3_Missense_Mutation_p.E741K O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 741 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 GGGATGTACTCATACACATGA 0.582000 HNSCC(40;0.11) 13 47 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27294537 27294537 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:27294537C>G ENST00000376087.4 - 34 5280 c.5115G>C c.(5113-5115)aaG>aaC p.K1705N ANKRD26_ENST00000376070.3_Missense_Mutation_p.K1262N|ANKRD26_ENST00000436985.2_Missense_Mutation_p.K1721N NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1704 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TATAATTTTTCTTTAAAACCT 0.284000 20 136 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94206145 94206145 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:94206145C>G ENST00000515393.1 - 16 2292 c.2293G>C c.(2293-2295)Gag>Cag p.E765Q MCTP1_ENST00000505078.1_Missense_Mutation_p.E281Q|MCTP1_ENST00000429576.2_Missense_Mutation_p.E498Q|MCTP1_ENST00000312216.8_Missense_Mutation_p.E544Q|MCTP1_ENST00000505208.1_Missense_Mutation_p.E544Q NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 765 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) CTGTTTTCCTCTTCAATGTAC 0.313000 15 27 0 0 1 0 0 COG5 10466 broad.mit.edu 37 7 106871137 106871137 + Splice_Site SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:106871137C>G ENST00000393603.2 - 19 2456 c.e19-1 COG5_ENST00000297135.3_Splice_Site|COG5_ENST00000347053.3_Splice_Site NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 CCAACTCCATCTGAAATATTA 0.388000 34 53 0 0 1 0 0 CLP1 10978 broad.mit.edu 37 11 57427062 57427062 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:57427062G>C ENST00000533682.1 + 2 839 c.114G>C c.(112-114)ttG>ttC p.L38F CLP1_ENST00000529430.1_Missense_Mutation_p.L49F|CLP1_ENST00000302731.4_Missense_Mutation_p.L38F|CLP1_ENST00000525602.1_Missense_Mutation_p.L38F Q92989 CLP1_HUMAN cleavage and polyadenylation factor I subunit 1 38 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1) 15 TGGAGTTGTTGACTGGCATGG 0.468000 7 36 0 0 1 0 0 ATAD3B 83858 broad.mit.edu 37 1 1422041 1422041 + Missense_Mutation SNP C C T rs139682140 byFrequency TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:1422041C>T ENST00000308647.7 + 11 1323 c.1207C>T c.(1207-1209)Cgg>Tgg p.R403W NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B 403 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CAATACCAGCCGGCGCGGGTG 0.672000 6 24 0 0 1 0 0 ZBTB33 10009 broad.mit.edu 37 X 119387502 119387502 + Missense_Mutation SNP T T C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:119387502T>C ENST00000326624.2 + 2 460 c.232T>C c.(232-234)Ttt>Ctt p.F78L ZBTB33_ENST00000557385.1_Missense_Mutation_p.F78L NM_006777.3 NP_006768.1 Q86T24 KAISO_HUMAN zinc finger and BTB domain containing 33 78 BTB.|Interaction with NCOR1.|Self-association (By similarity). intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 26 AGCAGAGATCTTTGCAGAAAT 0.363000 21 137 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48510813 48510813 + Nonsense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:48510813C>T ENST00000446524.1 + 1 545 c.469C>T c.(469-471)Caa>Taa p.Q157* NM_001005512.2 NP_001005512.2 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, member 47 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 CTCAGTATTTCAACTTAGCAT 0.433000 29 103 0 0 1 0 0 TCTN1 79600 broad.mit.edu 37 12 111078196 111078196 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:111078196C>G ENST00000551590.1 + 8 1008 c.852C>G c.(850-852)atC>atG p.I284M TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000397655.3_Missense_Mutation_p.I270M|TCTN1_ENST00000377654.3_Missense_Mutation_p.I106M|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Missense_Mutation_p.I284M Q2MV58 TECT1_HUMAN tectonic family member 1 284 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 AGGTCCCTATCACTGTTCAGT 0.502000 12 44 0 0 1 0 0 LSM3 27258 broad.mit.edu 37 3 14223150 14223150 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:14223150G>A ENST00000306024.3 + 2 615 c.112G>A c.(112-114)Gag>Aag p.E38K NM_014463.2 NP_055278.1 P62310 LSM3_HUMAN LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae) 38 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay catalytic step 2 spliceosome|cytosol protein binding|RNA binding central_nervous_system(1)|large_intestine(2)|ovary(1) 4 AAATGACCGAGAGCTTCGAGG 0.418000 33 156 0 0 1 0 0 ZNF550 162972 broad.mit.edu 37 19 58059268 58059268 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:58059268G>C ENST00000325134.5 - 3 404 c.248C>G c.(247-249)tCt>tGt p.S83C ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000506609.2_Missense_Mutation_p.S74C|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000457177.1_Missense_Mutation_p.S115C|ZNF550_ENST00000601415.1_Intron Q7Z398 ZN550_HUMAN zinc finger protein 550 115 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 7 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGAGGTTGAAGATTCCAGAGT 0.527000 84 253 0 0 1 0 0 SPINK8 646424 broad.mit.edu 37 3 48361094 48361094 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:48361094C>G ENST00000434006.1 - 3 131 c.132G>C c.(130-132)aaG>aaC p.K44N NM_001080525.1 NP_001073994.1 P0C7L1 ISK8_HUMAN serine peptidase inhibitor, Kazal type 8 (putative) 44 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) TATTTACATTCTTGAGGCATT 0.458000 13 34 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179464414 179464414 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:179464414G>C ENST00000589042.1 - 289 56438 c.56214C>G c.(56212-56214)gtC>gtG p.V18738V TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.V16170V|TTN_ENST00000342175.6_Silent_p.V9865V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.V9798V|TTN_ENST00000460472.2_Silent_p.V9673V|TTN_ENST00000591111.1_Silent_p.V17097V|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17097 Fibronectin type-III 36. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCAGTTTGTTGACATGGGTGT 0.433000 40 63 0 0 1 0 0 KLHL41 10324 broad.mit.edu 37 2 170366373 170366373 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:170366373G>A ENST00000284669.1 + 1 162 c.85G>A c.(85-87)Gag>Aag p.E29K RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 TCTCCTGGATGAGAAAAAATT 0.453000 25 111 0 0 1 0 0 ESF1 51575 broad.mit.edu 37 20 13755880 13755880 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr20:13755880C>G ENST00000202816.1 - 4 1179 c.1072G>C c.(1072-1074)Gat>Cat p.D358H NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 358 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 TTTAATCTATCCCAGTCCATG 0.323000 15 118 0 0 1 0 0 SEPT9 10801 broad.mit.edu 37 17 75493399 75493399 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:75493399G>C ENST00000329047.8 + 10 2334 c.1522G>C c.(1522-1524)Gaa>Caa p.E508Q SEPT9_ENST00000427674.2_Missense_Mutation_p.E362Q|SEPT9_ENST00000591198.1_Missense_Mutation_p.E507Q|SEPT9_ENST00000585930.1_Missense_Mutation_p.E302Q|SEPT9_ENST00000431235.2_Missense_Mutation_p.E362Q|SEPT9_ENST00000591088.1_Missense_Mutation_p.E275Q|SEPT9_ENST00000427180.1_Missense_Mutation_p.E414Q|SEPT9_ENST00000592951.1_Missense_Mutation_p.E275Q|SEPT9_ENST00000423034.2_Missense_Mutation_p.E519Q|SEPT9_ENST00000427177.1_Missense_Mutation_p.E526Q|SEPT9_ENST00000588690.1_Missense_Mutation_p.E362Q|SEPT9_ENST00000541152.2_Missense_Mutation_p.E275Q|SEPT9_ENST00000449803.2_Missense_Mutation_p.E362Q|SEPT9_ENST00000590294.1_Missense_Mutation_p.E508Q NM_006640.4 NP_006631.2 Q9UHD8 SEPT9_HUMAN septin 9 526 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding p.E508K(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) TCTCCTAGTTGAAAACACCAC 0.582000 5 13 0 0 1 0 0 SCG2 7857 broad.mit.edu 37 2 224462539 224462539 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:224462539C>G ENST00000305409.2 - 2 1694 c.1462G>C c.(1462-1464)Gaa>Caa p.E488Q NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 488 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TGTCTGTTTTCAACATGTGGA 0.438000 12 88 0 0 1 0 0 KIAA1211L 343990 broad.mit.edu 37 2 99439386 99439386 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:99439386C>T ENST00000397899.2 - 7 1681 c.1350G>A c.(1348-1350)gaG>gaA p.E450E NM_207362.2 NP_997245.2 KIAA1211-like GGGGCCCCTTCTCCTCATCCG 0.726000 10 22 0 0 1 0 0 CLCN5 1184 broad.mit.edu 37 X 49854786 49854786 + Silent SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:49854786G>T ENST00000376088.3 + 13 2399 c.1758G>T c.(1756-1758)cgG>cgT p.R586R CLCN5_ENST00000376091.3_Silent_p.R586R|CLCN5_ENST00000307367.2_Silent_p.R516R|CLCN5_ENST00000376108.3_Silent_p.R516R NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 516 CBS 1. excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) GGGTGACTCGGATGACTGTTT 0.468000 45 189 2.43139e-17 2.67898e-17 1 1 0 PLA2R1 22925 broad.mit.edu 37 2 160869838 160869838 + Nonsense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:160869838G>A ENST00000283243.7 - 10 1806 c.1600C>T c.(1600-1602)Cga>Tga p.R534* PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.R534* NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 534 C-type lectin 3. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 TCAAAGCTTCGAAGGACTGTG 0.368000 11 43 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77641943 77641943 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr13:77641943G>A ENST00000407578.2 - 71 12494 c.12228C>T c.(12226-12228)agC>agT p.S4076S MYCBP2_ENST00000357337.6_Silent_p.S4038S|MYCBP2_ENST00000544440.2_Silent_p.S4038S NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 4038 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CTCCTATGATGCTGGCCAGAC 0.413000 27 50 0 0 1 0 0 KCTD6 200845 broad.mit.edu 37 3 58487085 58487085 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:58487085C>G ENST00000355076.6 + 2 1423 c.440C>G c.(439-441)aCt>aGt p.T147S KCTD6_ENST00000490264.1_Missense_Mutation_p.T147S|KCTD6_ENST00000404589.3_Missense_Mutation_p.T147S NM_153331.3 NP_699162.3 Q8NC69 KCTD6_HUMAN potassium channel tetramerization domain containing 6 147 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) ACCATCACCACTAAGGTCCAT 0.423000 15 129 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195516459 195516459 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:195516459G>A ENST00000463781.3 - 2 2451 c.1992C>T c.(1990-1992)gtC>gtT p.V664V MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.V664V|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 669 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) CTGGGGTGGTGACTGTCTTGG 0.567000 54 47 0 0 1 0 0 LDOC1 23641 broad.mit.edu 37 X 140271168 140271168 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:140271168C>T ENST00000370526.2 - 1 142 c.39G>A c.(37-39)ctG>ctA p.L13L LDOC1_ENST00000460721.1_5'UTR NM_012317.2 NP_036449.1 O95751 LDOC1_HUMAN leucine zipper, down-regulated in cancer 1 13 negative regulation of cell proliferation nucleus protein binding endometrium(6)|large_intestine(1)|lung(6)|ovary(1) 14 Acute lymphoblastic leukemia(192;7.65e-05) GGTGCCGCATCAGGAGCGCGT 0.672000 6 6 0 0 1 0 0 UBE2H 7328 broad.mit.edu 37 7 129519417 129519417 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:129519417G>T ENST00000355621.3 - 3 589 c.196C>A c.(196-198)Cca>Aca p.P66T UBE2H_ENST00000473814.2_Missense_Mutation_p.P66T NM_001202498.1|NM_003344.3 NP_001189427.1|NP_003335.1 P62256 UBE2H_HUMAN ubiquitin-conjugating enzyme E2H 66 protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin-protein ligase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1) 10 Melanoma(18;0.0435) CCTATAGATGGAGATTTGAAA 0.358000 21 108 5.35356e-11 5.74106e-11 1 1 0 TBC1D1 23216 broad.mit.edu 37 4 38097678 38097678 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:38097678G>C ENST00000261439.4 + 14 2720 c.2365G>C c.(2365-2367)Gac>Cac p.D789H TBC1D1_ENST00000508802.1_Missense_Mutation_p.D883H NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 789 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 AATTAAGTTTGACATGGAAAA 0.428000 13 47 0 0 1 0 0 PCYT1A 5130 broad.mit.edu 37 3 195965721 195965721 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:195965721G>A ENST00000292823.2 - 10 1114 c.942C>T c.(940-942)atC>atT p.I314I PCYT1A_ENST00000431016.1_Silent_p.I314I|PCYT1A_ENST00000419333.1_Silent_p.I314I NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 314 cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) GCTTCGGGCTGATGGCCTGCA 0.582000 4 12 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36788510 36788510 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:36788510G>T ENST00000518904.1 + 2 181 c.112G>T c.(112-114)Ggt>Tgt p.G38C KCNU1_ENST00000399881.3_Silent_p.L926L A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 784 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TTCAGATGCTGGTGACAGGAG 0.453000 14 65 3.27435e-08 3.46887e-08 1 1 0 RALGAPB 57148 broad.mit.edu 37 20 37174949 37174949 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr20:37174949G>A ENST00000262879.6 + 19 3062 c.2778G>A c.(2776-2778)gtG>gtA p.V926V RALGAPB_ENST00000397038.1_Silent_p.V704V|RALGAPB_ENST00000397040.1_Silent_p.V926V|RALGAPB_ENST00000397042.3_Silent_p.V922V Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 926 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 GTAGTCTTGTGAATGAGACCA 0.438000 19 100 0 0 1 0 0 MSL3P1 151507 broad.mit.edu 37 2 234775296 234775296 + RNA SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:234775296C>G ENST00000438684.1 - 0 818 NR_024322.1 AGGACCGCCTCAGAGACTGCA 0.612000 15 17 0 0 1 0 0 CCDC30 728621 broad.mit.edu 37 1 43011226 43011226 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:43011226G>A ENST00000428554.2 + 11 1544 c.401G>A c.(400-402)cGa>cAa p.R134Q CCDC30_ENST00000342022.4_Missense_Mutation_p.R134Q|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000340612.4_Missense_Mutation_p.R134Q|CCDC30_ENST00000507855.1_Intron Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 134 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 ATTCAAAGCCGAAAGGAAGAG 0.328000 10 61 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 31144170 31144170 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:31144170C>A ENST00000543491.1 + 3 3467 c.3467C>A c.(3466-3468)tCc>tAc p.S1156Y O60245 PCDH7_HUMAN protocadherin 7 0 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 CACTCAGACTCCTGCTGGATG 0.522000 27 89 1.17739e-12 1.27684e-12 1 1 0 FPGS 2356 broad.mit.edu 37 9 130573250 130573250 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:130573250C>G ENST00000373225.3 + 14 1373 c.1164C>G c.(1162-1164)ttC>ttG p.F388L FPGS_ENST00000373245.1_3'UTR|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Missense_Mutation_p.F412L|FPGS_ENST00000373247.2_Missense_Mutation_p.F438L NM_001018078.1 NP_001018088.1 Q05932 FOLC_HUMAN folylpolyglutamate synthase 438 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 L-Glutamic Acid(DB00142) ATGCCGTCTTCTGCCCTAACC 0.592000 3 6 0 0 1 0 0 AGBL5 60509 broad.mit.edu 37 2 27275977 27275977 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:27275977G>A ENST00000360131.4 + 2 310 c.151G>A c.(151-153)Gac>Aac p.D51N AGBL5_ENST00000323064.8_Missense_Mutation_p.D51N NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 51 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCTTCCCCTGACTATGAATT 0.532000 37 80 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33577065 33577065 + Silent SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:33577065G>T ENST00000504830.1 - 19 3401 c.3066C>A c.(3064-3066)gtC>gtA p.V1022V ADAMTS12_ENST00000352040.3_Silent_p.V937V NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1022 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TAGGTGGAGGGACGGGCTTTA 0.537000 HNSCC(64;0.19) 8 100 0.0381472 0.0384265 1 1 0 ASB16 92591 broad.mit.edu 37 17 42254125 42254125 + Nonsense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:42254125G>T ENST00000293414.1 + 3 673 c.589G>T c.(589-591)Gaa>Taa p.E197* ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000588785.1_RNA NM_080863.4 NP_543139.4 Q96NS5 ASB16_HUMAN ankyrin repeat and SOCS box containing 16 197 intracellular signal transduction protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1) 14 Breast(137;0.00765)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.114) GTTGCTGCTGGAAGCAGGAGC 0.632000 21 53 3.28513e-13 3.57063e-13 1 1 0 BTN3A3 10384 broad.mit.edu 37 6 26448630 26448630 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:26448630G>A ENST00000244519.2 + 6 1113 c.870G>A c.(868-870)atG>atA p.M290I BTN3A3_ENST00000339789.4_Missense_Mutation_p.M248I|BTN3A3_ENST00000361232.3_Missense_Mutation_p.M248I NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 290 integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 AGCGAGAGATGAAAGAAATGG 0.488000 14 20 0 0 1 0 0 OR14K1 343170 broad.mit.edu 37 1 247902395 247902395 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:247902395G>T ENST00000283225.2 + 1 479 c.479G>T c.(478-480)gGa>gTa p.G160V RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 TACACAGCTGGAACATTCTCT 0.502000 54 92 2.29192e-23 2.54863e-23 1 1 0 ADGRG6 57211 broad.mit.edu 37 6 142741106 142741106 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:142741106G>A ENST00000230173.6 + 22 3660 c.3184G>A c.(3184-3186)Gaa>Aaa p.E1062K GPR126_ENST00000367608.2_Missense_Mutation_p.E1034K|GPR126_ENST00000296932.8_Missense_Mutation_p.E1034K|GPR126_ENST00000367609.3_Missense_Mutation_p.E1062K NM_020455.5 NP_065188 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 1062 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) CCTGAGAGAAGAAGTGTTAAG 0.468000 34 102 0 0 1 0 0 ERCC6-PGBD3 101243544 broad.mit.edu 37 10 50723838 50723838 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:50723838C>T ENST00000515869.1 - 6 2847 c.2727G>A c.(2725-2727)ctG>ctA p.L909L PGBD3_ENST00000508005.2_Silent_p.L441L|PGBD3_ENST00000603152.1_Silent_p.L909L|ERCC6_ENST00000355832.5_Intron|PGBD3_ENST00000374127.3_Silent_p.L441L|ERCC6-PGBD3_ENST00000447839.2_Silent_p.L909L NM_001277059.1 NP_001263988.1 TCTTCTTTTTCAGTTTCTGGG 0.433000 26 88 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77651412 77651412 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:77651412C>T ENST00000461745.1 + 20 3806 c.2906C>T c.(2905-2907)tCa>tTa p.S969L ROBO2_ENST00000487694.3_Missense_Mutation_p.S985L|ROBO2_ENST00000332191.8_Missense_Mutation_p.S969L NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 969 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) ACGATGCTCTCAGATGGAGCC 0.468000 6 58 0 0 1 0 0 RILPL2 196383 broad.mit.edu 37 12 123907608 123907608 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:123907608C>T ENST00000280571.8 - 3 884 c.588G>A c.(586-588)aaG>aaA p.K196K NM_145058.1 NP_659495.1 Q969X0 RIPL2_HUMAN Rab interacting lysosomal protein-like 2 196 cytosol|plasma membrane identical protein binding endometrium(1)|large_intestine(2)|lung(2)|skin(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168) TTATGATTGTCTTCTCCTCCT 0.507000 11 50 0 0 1 0 0 PCCB 5096 broad.mit.edu 37 3 136002774 136002774 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:136002774C>T ENST00000471595.1 + 6 657 c.639C>T c.(637-639)ttC>ttT p.F213F PCCB_ENST00000490504.1_Silent_p.F156F|PCCB_ENST00000468777.1_Silent_p.F244F|PCCB_ENST00000251654.4_Silent_p.F213F|PCCB_ENST00000478469.1_Silent_p.F213F|PCCB_ENST00000462637.1_Silent_p.F190F|PCCB_ENST00000483687.1_Silent_p.F194F|PCCB_ENST00000469217.1_Silent_p.F233F|PCCB_ENST00000482086.1_Silent_p.F97F|PCCB_ENST00000466072.1_Silent_p.F213F|PCCB_ENST00000474833.1_3'UTR P05166 PCCB_HUMAN propionyl CoA carboxylase, beta polypeptide 213 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 25 Biotin(DB00121)|L-Valine(DB00161) TAACAGACTTCACGTTCATGG 0.493000 8 55 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83847184 83847184 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:83847184G>A ENST00000349129.2 + 21 3683 c.3423G>A c.(3421-3423)aaG>aaA p.K1141K DOPEY1_ENST00000237163.5_Silent_p.K1122K|DOPEY1_ENST00000369739.3_Silent_p.K1132K NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1141 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AAATGCCCAAGGAAAGCTCCC 0.453000 9 16 0 0 1 0 0 SYT14 255928 broad.mit.edu 37 1 210273416 210273416 + Silent SNP A A G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:210273416A>G ENST00000537238.1 + 7 1051 c.660A>G c.(658-660)gaA>gaG p.E220E SYT14_ENST00000399639.2_Silent_p.E258E|SYT14_ENST00000367019.1_Silent_p.E258E|SYT14_ENST00000472886.1_Silent_p.E258E|SYT14_ENST00000534859.1_Silent_p.E258E|SYT14_ENST00000367015.1_Silent_p.E220E|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000422431.1_Silent_p.E303E NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 258 integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) CTGAGCCAGAAGCTAAATATG 0.383000 31 65 0 0 1 0 0 PLA2G1B 5319 broad.mit.edu 37 12 120760074 120760074 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:120760074G>T ENST00000308366.4 - 4 404 c.369C>A c.(367-369)aaC>aaA p.N123K PLA2G1B_ENST00000549767.1_Missense_Mutation_p.N94K|PLA2G1B_ENST00000423423.3_3'UTR NM_000928.2 NP_000919.1 P04054 PA21B_HUMAN phospholipase A2, group IB (pancreas) 123 actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter extracellular space bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding endometrium(1)|large_intestine(1)|lung(3)|skin(2) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGATGGCAGCGTTGCGGTCGC 0.463000 43 114 6.21074e-16 6.82756e-16 1 1 0 ZNF107 51427 broad.mit.edu 37 7 64167872 64167872 + Nonsense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:64167872C>G ENST00000395391.1 + 4 2565 c.1190C>G c.(1189-1191)tCa>tGa p.S397* ZNF107_ENST00000344930.3_Nonsense_Mutation_p.S397*|ZNF107_ENST00000423627.1_Nonsense_Mutation_p.S397* Q9UII5 ZN107_HUMAN zinc finger protein 107 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) AACCAACACTCAAACCTAATT 0.333000 8 37 0 0 1 0 0 ZNF544 27300 broad.mit.edu 37 19 58773494 58773494 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:58773494G>C ENST00000269829.4 + 7 1996 c.1522G>C c.(1522-1524)Gtt>Ctt p.V508L ZNF544_ENST00000600220.1_Missense_Mutation_p.V480L|ZNF544_ENST00000596652.1_Missense_Mutation_p.V508L|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.V480L|ZNF544_ENST00000599953.1_Missense_Mutation_p.V366L|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000415203.2_Missense_Mutation_p.V480L NM_014480.2 NP_055295.2 Q6NX49 ZN544_HUMAN zinc finger protein 544 508 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) GTATGACCTTGTTGTACATCA 0.438000 38 146 0 0 1 0 0 PPP2R1B 5519 broad.mit.edu 37 11 111637028 111637028 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:111637028C>G ENST00000527614.1 - 1 123 c.58G>C c.(58-60)Gat>Cat p.D20H PPP2R1B_ENST00000341980.6_Missense_Mutation_p.D20H|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.D20H|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.D20H|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.D20H NM_001177562.1|NM_002716.4 NP_001171033.1|NP_002707.3 P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta 20 protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2) 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) TATAGCGAATCATCTCCATCT 0.652000 10 68 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67114092 67114092 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:67114092C>G ENST00000284425.2 - 11 1616 c.1442G>C c.(1441-1443)aGa>aCa p.R481T NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 481 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) CTTAACATTTCTGATTCTGAA 0.338000 21 41 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25470578 25470578 + Missense_Mutation SNP T T A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:25470578T>A ENST00000264709.3 - 8 1233 c.896A>T c.(895-897)aAa>aTa p.K299I DNMT3A_ENST00000321117.5_Missense_Mutation_p.K299I|DNMT3A_ENST00000402667.1_Missense_Mutation_p.K76I|DNMT3A_ENST00000380746.4_Missense_Mutation_p.K110I NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 299 Interaction with DNMT1 and DNMT3B.|PWWP. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCCCGCAGTTTCCCCCACAC 0.642000 """Mis, F, N, S""" AML 4 53 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100330038 100330038 + Nonsense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:100330038C>G ENST00000294724.4 + 5 1035 c.557C>G c.(556-558)tCa>tGa p.S186* AGL_ENST00000361915.3_Nonsense_Mutation_p.S186*|AGL_ENST00000361522.4_Nonsense_Mutation_p.S169*|AGL_ENST00000370161.2_Nonsense_Mutation_p.S170*|AGL_ENST00000370163.3_Nonsense_Mutation_p.S186*|AGL_ENST00000370165.3_Nonsense_Mutation_p.S186*|AGL_ENST00000361302.3_Nonsense_Mutation_p.S170* NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 186 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) CCTGACTTTTCAAGACCTAAT 0.363000 30 86 0 0 1 0 0 CYR61 3491 broad.mit.edu 37 1 86047753 86047753 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:86047753C>T ENST00000451137.2 + 3 644 c.420C>T c.(418-420)ctC>ctT p.L140L CYR61_ENST00000480413.1_3'UTR NM_001554.4 NP_001545.2 O00622 CYR61_HUMAN cysteine-rich, angiogenic inducer, 61 140 VWFC. cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells extracellular region heparin binding|insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1) 5 all cancers(265;0.0216)|Epithelial(280;0.0441) AACTATCTCTCCCCAACTTGG 0.552000 OREG0013583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 116 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112616811 112616811 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:112616811G>C ENST00000550722.1 - 64 11244 c.10849C>G c.(10849-10851)Ccc>Gcc p.P3617A HECTD4_ENST00000377560.5_Missense_Mutation_p.P3591A|HECTD4_ENST00000430131.2_Missense_Mutation_p.P3341A NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 ACCTTCACGGGGTGCTGCTCC 0.622000 24 12 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29088001 29088001 + RNA SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:29088001G>C ENST00000564580.1 + 0 171 GTGCATTAGAGAATGATTTTT 0.338000 10 29 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271640 1271640 + Silent SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:1271640G>T ENST00000447027.1 + 31 13597 c.13539G>T c.(13537-13539)ctG>ctT p.L4513L MUC5B_ENST00000529681.1_Silent_p.L4510L Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4510 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TTCCAGCACTGAGAAGCACAG 0.627000 27 117 3.90053e-15 4.27814e-15 1 1 0 PRKCI 5584 broad.mit.edu 37 3 169999030 169999030 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:169999030C>G ENST00000295797.4 + 10 1264 c.959C>G c.(958-960)tCt>tGt p.S320C NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 320 Protein kinase. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) GGGCTGCATTCTTGCTTTCAG 0.383000 20 62 0 0 1 0 0 PKNOX1 5316 broad.mit.edu 37 21 44441458 44441458 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr21:44441458G>A ENST00000291547.5 + 8 977 c.766G>A c.(766-768)Gat>Aat p.D256N PKNOX1_ENST00000432907.2_Missense_Mutation_p.D139N NM_004571.3 NP_004562.2 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 256 sequence-specific DNA binding cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 GCATCAAGATGATGGTTCATC 0.458000 7 26 0 0 1 0 0 OR6K6 128371 broad.mit.edu 37 1 158725016 158725016 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:158725016C>T ENST00000368144.2 + 1 507 c.411C>T c.(409-411)atC>atT p.I137I NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CACTTGGTATCACAGAAAGCT 0.493000 16 56 0 0 1 0 0 SRCIN1 80725 broad.mit.edu 37 17 36734904 36734904 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:36734904G>C ENST00000264659.7 - 2 387 c.163C>G c.(163-165)Cgg>Ggg p.R55G SRCIN1_ENST00000578925.1_Missense_Mutation_p.R55G NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 62 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 GTGTGCCGCCGCTCGGACGTG 0.731000 4 4 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24878016 24878016 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:24878016C>T ENST00000382554.3 + 4 1334 c.1016C>T c.(1015-1017)tCa>tTa p.S339L NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 339 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CCTCCAGTATCAGCCCTGGGT 0.582000 3 9 0 0 1 0 0 TMEM181 57583 broad.mit.edu 37 6 159006376 159006376 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:159006376C>T ENST00000367090.3 + 5 722 c.711C>T c.(709-711)gtC>gtT p.V237V NM_020823.1 NP_065874.1 Q9P2C4 TM181_HUMAN transmembrane protein 181 237 pathogenesis integral to membrane toxin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1) 22 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) CTGTTAAAGTCGATGGTGTAG 0.443000 20 53 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41568569 41568569 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:41568569G>A ENST00000263253.7 + 28 5738 c.4519G>A c.(4519-4521)Gat>Aat p.D1507N RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1507 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TTTCGAGGGTGATTTCTGGCC 0.383000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 16 48 0 0 1 0 0 LARS2 23395 broad.mit.edu 37 3 45500348 45500348 + Silent SNP A A G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:45500348A>G ENST00000415258.1 + 7 861 c.720A>G c.(718-720)caA>caG p.Q240Q LARS2_ENST00000414984.1_Silent_p.Q197Q|LARS2_ENST00000265537.3_Silent_p.Q240Q Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial 240 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) ACCTCAGACAATGGTTTATTA 0.512000 5 67 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32783018 32783018 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:32783018G>A ENST00000265074.8 + 6 1653 c.1310G>A c.(1309-1311)gGa>gAa p.G437E NPR3_ENST00000415685.2_Missense_Mutation_p.G221E|NPR3_ENST00000434067.2_Missense_Mutation_p.G221E|NPR3_ENST00000415167.2_Missense_Mutation_p.G437E NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 437 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) GATTATTTTGGAAAAGAAGGT 0.403000 6 24 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65105757 65105757 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:65105757G>C ENST00000358691.5 - 29 4130 c.3964C>G c.(3964-3966)Cct>Gct p.P1322A HELZ_ENST00000580168.1_Missense_Mutation_p.P1323A NM_014877.3 NP_055692 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) ACAACACTAGGACGTGATTCA 0.403000 26 31 0 0 1 0 0 NMT2 9397 broad.mit.edu 37 10 15183526 15183526 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:15183526C>G ENST00000378165.4 - 2 221 c.141G>C c.(139-141)aaG>aaC p.K47N NMT2_ENST00000378150.1_Missense_Mutation_p.R20T|NMT2_ENST00000535341.1_Missense_Mutation_p.R20T|NMT2_ENST00000540259.1_5'UTR NM_004808.2 NP_004799.1 O60551 NMT2_HUMAN N-myristoyltransferase 2 47 Poly-Lys. N-terminal protein myristoylation|protein lipoylation Golgi apparatus|plasma membrane glycylpeptide N-tetradecanoyltransferase activity breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3) 21 tcttctttttctttttGGCTC 0.398000 4 14 0 0 1 0 0 MPL 4352 broad.mit.edu 37 1 43805739 43805739 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:43805739C>T ENST00000372470.3 + 5 837 c.795C>T c.(793-795)ctC>ctT p.L265L MPL_ENST00000413998.2_Silent_p.L265L NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 265 cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GGATCTCCCTCGGTGGCTCCT 0.592000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 3 20 0 0 1 0 0 DDX3X 1654 broad.mit.edu 37 X 41196683 41196683 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:41196683C>T ENST00000399959.2 + 2 923 c.68C>T c.(67-69)tCt>tTt p.S23F DDX3X_ENST00000441189.2_Missense_Mutation_p.S23F|DDX3X_ENST00000542215.1_Missense_Mutation_p.S67F|DDX3X_ENST00000457138.2_Missense_Mutation_p.S23F|DDX3X_ENST00000478993.1_3'UTR NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 23 interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 GACCTGAACTCTTCAGATAAT 0.413000 HNSCC(61;0.18) 16 76 0 0 1 0 0 CCDC63 160762 broad.mit.edu 37 12 111311690 111311690 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:111311690C>T ENST00000308208.5 + 5 656 c.414C>T c.(412-414)ttC>ttT p.F138F CCDC63_ENST00000545036.1_Silent_p.F98F|CCDC63_ENST00000552694.1_Silent_p.F59F|CCDC63_ENST00000550317.1_3'UTR NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 138 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 AACAGATTTTCGCAAAAATGC 0.413000 23 122 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90074321 90074321 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:90074321G>C ENST00000405460.2 + 63 12840 c.12744G>C c.(12742-12744)ctG>ctC p.L4248L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4248 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GAGGAGTTCTGAGTGAATCCA 0.493000 5 6 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247587973 247587973 + Missense_Mutation SNP T T G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:247587973T>G ENST00000366497.2 + 4 2008 c.1228T>G c.(1228-1230)Ttc>Gtc p.F410V NLRP3_ENST00000336119.3_Missense_Mutation_p.F410V|NLRP3_ENST00000391827.2_Missense_Mutation_p.F410V|NLRP3_ENST00000348069.2_Missense_Mutation_p.F410V|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.F410V|NLRP3_ENST00000391828.3_Missense_Mutation_p.F410V NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 410 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CACCATGTGCTTCATCCCCCT 0.537000 4 33 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33751629 33751629 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:33751629C>T ENST00000504830.1 - 3 849 c.514G>A c.(514-516)Gga>Aga p.G172R ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.G172R|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G172R NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 172 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 AAAAAGTCTCCATGTGGTAGT 0.383000 HNSCC(64;0.19) 30 82 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55690822 55690822 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:55690822C>T ENST00000379906.2 + 1 471 c.216C>T c.(214-216)ttC>ttT p.F72F SLC6A2_ENST00000561820.1_Silent_p.F72F|SLC6A2_ENST00000219833.8_Silent_p.F72F|SLC6A2_ENST00000568943.1_Silent_p.F72F|SLC6A2_ENST00000414754.3_Silent_p.F72F|SLC6A2_ENST00000566163.1_Silent_p.F72F NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 72 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) TAGTCGGCTTCGCAGTGGACC 0.672000 17 54 0 0 1 0 0 FOXN3 1112 broad.mit.edu 37 14 89878715 89878715 + Nonsense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:89878715G>A ENST00000345097.4 - 2 222 c.106C>T c.(106-108)Cag>Tag p.Q36* FOXN3_ENST00000557258.1_Nonsense_Mutation_p.Q36*|FOXN3_ENST00000261302.5_Nonsense_Mutation_p.Q36*|FOXN3_ENST00000555353.1_Nonsense_Mutation_p.Q36*|RP11-33N16.3_ENST00000555070.1_RNA NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 36 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 TCGTCTTCCTGAAGGGCCTTG 0.537000 17 35 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 56994860 56994860 + Nonsense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:56994860C>T ENST00000179765.5 - 23 4426 c.4227G>A c.(4225-4227)tgG>tgA p.W1409* BAZ2A_ENST00000553222.1_5'UTR|BAZ2A_ENST00000549884.1_Nonsense_Mutation_p.W1439*|BAZ2A_ENST00000551812.1_Nonsense_Mutation_p.W1441*|BAZ2A_ENST00000379441.3_Nonsense_Mutation_p.W1411* Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 1441 Pro-rich. chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GATCTCGTATCCACCACCAGC 0.557000 5 12 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65491157 65491157 + Silent SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr15:65491157C>A ENST00000261883.4 - 9 1633 c.1467G>T c.(1465-1467)cgG>cgT p.R489R NM_003613.3 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 489 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 GCACGATGCTCCGAGTTTCCG 0.592000 11 36 1.5842e-08 1.68201e-08 1 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117420596 117420596 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:117420596C>G ENST00000160373.3 - 7 2513 c.2422G>C c.(2422-2424)Gat>Cat p.D808H NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 808 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) TGTCCTCCATCAGCAGCATGA 0.348000 8 44 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543225 182543225 + Silent SNP T T C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:182543225T>C ENST00000295108.3 - 2 820 c.363A>G c.(361-363)ctA>ctG p.L121L CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron NM_002500.4 NP_002491.2 Q13562 NDF1_HUMAN neuronal differentiation 1 121 Helix-loop-helix motif. amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) GCAGGTTGTCTAGCGCCGCGT 0.552000 31 45 0 0 1 0 0 LRRC32 2615 broad.mit.edu 37 11 76371368 76371368 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:76371368G>A ENST00000407242.2 - 3 1511 c.1269C>T c.(1267-1269)agC>agT p.S423S LRRC32_ENST00000260061.5_Silent_p.S423S|LRRC32_ENST00000404995.1_Silent_p.S423S|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 423 integral to plasma membrane endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 CCCCACAGGGGCTGACTCGGT 0.657000 4 7 0 0 1 0 0 TICAM1 148022 broad.mit.edu 37 19 4817058 4817058 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:4817058G>A ENST00000248244.5 - 2 1561 c.1332C>T c.(1330-1332)gaC>gaT p.D444D NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 444 TIR. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGTCTATGGCGTCCTGCAGGC 0.622000 7 33 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179588344 179588344 + Missense_Mutation SNP T T A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:179588344T>A ENST00000589042.1 - 74 21707 c.21483A>T c.(21481-21483)agA>agT p.R7161S TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R5917S|TTN_ENST00000342175.6_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R6844S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6844 Ig-like 53. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAGGGGTTCCTCTAATAACGC 0.438000 5 22 0 0 1 0 0 UROC1 131669 broad.mit.edu 37 3 126218960 126218960 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:126218960C>G ENST00000290868.2 - 12 1236 c.1183G>C c.(1183-1185)Gag>Cag p.E395Q UROC1_ENST00000383579.3_Missense_Mutation_p.E455Q NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 395 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) AACTTCTCCTCGGCCAACCTG 0.622000 8 33 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22915528 22915528 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:22915528G>A ENST00000166244.3 + 5 1216 c.1144G>A c.(1144-1146)Ggc>Agc p.G382S EPHA8_ENST00000538803.1_Missense_Mutation_p.G382S|EPHA8_ENST00000374644.4_Missense_Mutation_p.G382S NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 382 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity p.G382S(2) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ATGTGGGAGCGGCACCCGCTT 0.677000 11 19 0 0 1 0 0 NTSR2 23620 broad.mit.edu 37 2 11798693 11798693 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:11798693G>T ENST00000306928.5 - 4 1179 c.1145C>A c.(1144-1146)cCc>cAc p.P382H NM_012344.3 NP_036476 O95665 NTR2_HUMAN neurotensin receptor 2 382 sensory perception integral to plasma membrane p.P382H(1) breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) CCGCTTCATGGGGTGGTGCTC 0.567000 13 81 1.49906e-05 1.56402e-05 1 1 0 POLN 353497 broad.mit.edu 37 4 2200254 2200254 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:2200254G>A ENST00000511885.2 - 6 1258 c.905C>T c.(904-906)gCc>gTc p.A302V POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.A302V Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 302 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) TTCTTACCGGGCAAATTGTTG 0.428000 DNA polymerases (catalytic subunits) 4 177 0 0 1 0 0 LINGO3 645191 broad.mit.edu 37 19 2290237 2290237 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:2290237C>G ENST00000585527.1 - 1 1786 c.1539G>C c.(1537-1539)gaG>gaC p.E513D LINGO3_ENST00000404279.1_Missense_Mutation_p.E513D P0C6S8 LIGO3_HUMAN leucine rich repeat and Ig domain containing 3 513 integral to membrane lung(1)|urinary_tract(1) 2 CCGCCAGCGTCTCGTTGTGGG 0.721000 7 27 0 0 1 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45241152 45241152 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:45241152C>G ENST00000352766.7 + 13 1230 c.1230C>G c.(1228-1230)ctC>ctG p.L410L ARHGAP8_ENST00000389773.5_Silent_p.L322L|ARHGAP8_ENST00000356099.6_Silent_p.L200L|ARHGAP8_ENST00000389774.2_Silent_p.L231L|ARHGAP8_ENST00000336963.4_Silent_p.L200L|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.L331L|ARHGAP8_ENST00000517296.3_Silent_p.L410L breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 TTCTCAGCCTCAAAGACAAAA 0.517000 22 16 0 0 1 0 0 MUC1 4582 broad.mit.edu 37 1 155160209 155160209 + Nonsense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:155160209G>C ENST00000368395.1 - 5 1141 c.1070C>G c.(1069-1071)tCa>tGa p.S357* MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000438413.1_Nonsense_Mutation_p.S111*|MUC1_ENST00000368393.3_Nonsense_Mutation_p.S155*|MUC1_ENST00000368392.3_Nonsense_Mutation_p.S146*|MUC1_ENST00000457295.2_Nonsense_Mutation_p.S146*|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000338684.5_Nonsense_Mutation_p.S106*|MUC1_ENST00000368398.3_Nonsense_Mutation_p.S112*|MUC1_ENST00000368390.3_Nonsense_Mutation_p.S137*|MUC1_ENST00000337604.5_Nonsense_Mutation_p.S155*|MUC1_ENST00000462215.1_5'UTR NM_001204285.1|NM_001204286.1 NP_001191214.1|NP_001191215.1 P15941 MUC1_HUMAN mucin 1, cell surface associated 1137 42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R. apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCTGACGTCTGAGATCGTCAG 0.567000 T IGH@ B-NHL 18 50 0 0 1 0 0 TECR 9524 broad.mit.edu 37 19 14640521 14640521 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:14640521G>A ENST00000215567.5 + 1 150 c.13G>A c.(13-15)Gag>Aag p.E5K TECR_ENST00000596073.1_5'UTR|TECR_ENST00000596164.1_3'UTR|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000436007.2_5'UTR NM_138501.5 NP_612510.1 Q9NZ01 TECR_HUMAN trans-2,3-enoyl-CoA reductase 5 fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity endometrium(1)|large_intestine(1)|ovary(1) 3 GAAGCATTACGAGGTAAGAAG 0.632000 4 30 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4042323 4042323 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:4042323G>A ENST00000294016.3 - 5 2569 c.2031C>T c.(2029-2031)ctC>ctT p.L677L ADCY9_ENST00000571889.1_Intron NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 677 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 GGGGAGGGCTGAGGAGCCCGT 0.592000 14 20 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12938526 12938526 + Nonsense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:12938526C>G ENST00000218032.6 + 2 1454 c.1367C>G c.(1366-1368)tCa>tGa p.S456* TLR8_ENST00000311912.5_Nonsense_Mutation_p.S474* NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 456 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 AAACGACGCTCAACAGATTTT 0.388000 53 92 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116450678 116450678 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:116450678C>G ENST00000281928.3 - 9 1410 c.1204G>C c.(1204-1206)Gaa>Caa p.E402Q NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 402 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GGCTCTTCTTCAAGAGTTGGA 0.413000 22 73 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107939599 107939599 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:107939599G>A ENST00000328300.6 + 53 5311 c.5067G>A c.(5065-5067)aaG>aaA p.K1689K COL4A5_ENST00000361603.2_Silent_p.K1683K NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1683 axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TGTGCATGAAGAGGACATAAC 0.358000 Alport syndrome with Diffuse Leiomyomatosis 18 51 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13606519 13606519 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:13606519C>T ENST00000040738.5 - 10 2140 c.2005G>A c.(2005-2007)Gaa>Aaa p.E669K NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 669 Lys-rich. DNA binding TCAGTCTCTTCCTGTACCCCC 0.403000 42 230 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91660846 91660846 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:91660846G>A ENST00000359028.2 + 17 4527 c.4302G>A c.(4300-4302)gtG>gtA p.V1434V AKAP9_ENST00000356239.3_Silent_p.V1422V|AKAP9_ENST00000358100.2_Silent_p.V1434V Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1434 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AATTTGGAGTGAAAGAGGAAA 0.294000 T BRAF papillary thyroid 10 58 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28543861 28543861 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:28543861G>A ENST00000452236.2 - 3 1238 c.621C>T c.(619-621)ctC>ctT p.L207L SCAND3_ENST00000530247.1_5'UTR NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 207 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 CTAAGCTACTGAGGTTATCAC 0.318000 20 21 0 0 1 0 0 L1TD1 54596 broad.mit.edu 37 1 62677014 62677014 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:62677014G>C ENST00000498273.1 + 4 2863 c.2568G>C c.(2566-2568)ttG>ttC p.L856F NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 856 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 tgcccaccttgagagaattac 0.378000 26 43 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10058934 10058934 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:10058934G>A ENST00000380861.4 + 6 892 c.501G>A c.(499-501)ctG>ctA p.L167L WWC3_ENST00000454666.1_Silent_p.L167L NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 167 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 GGCGGGACCTGATGCATGTAA 0.413000 14 40 0 0 1 0 0 LMTK2 22853 broad.mit.edu 37 7 97784176 97784176 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:97784176G>A ENST00000297293.5 + 5 850 c.557G>A c.(556-558)gGa>gAa p.G186E NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 186 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) TTGAAAAATGGAGAACCTTAC 0.418000 5 69 0 0 1 0 0 SPAG16 79582 broad.mit.edu 37 2 215275015 215275015 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:215275015C>T ENST00000331683.5 + 16 1967 c.1872C>T c.(1870-1872)gaC>gaT p.D624D SPAG16_ENST00000374309.3_Silent_p.D530D|AC107218.3_ENST00000437883.1_RNA|AC107218.3_ENST00000412896.1_RNA NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 624 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) GAGGCTCTGACGGCACAGTTC 0.512000 10 51 0 0 1 0 0 RNF217-AS1 7955 broad.mit.edu 37 6 125231651 125231651 + RNA SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:125231651G>C ENST00000439075.1 - 0 3094 NR_026876.1 AGTACAATTAGATCAAACATA 0.249000 4 16 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18877945 18877945 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:18877945C>T ENST00000446231.2 - 23 3760 c.3348G>A c.(3346-3348)ggG>ggA p.G1116G SMG1_ENST00000389467.3_Silent_p.G1116G Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 1116 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CAACCTACCTCCCTTCAGCCT 0.393000 23 44 0 0 1 0 0 SBNO2 22904 broad.mit.edu 37 19 1112019 1112019 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:1112019G>A ENST00000361757.3 - 23 2913 c.2676C>T c.(2674-2676)ctC>ctT p.L892L SBNO2_ENST00000587024.1_Silent_p.L882L|SBNO2_ENST00000438103.2_Silent_p.L835L NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) 892 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 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) TGTACTTGCTGAGGTCACGGG 0.672000 7 55 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179640102 179640102 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:179640102G>T ENST00000589042.1 - 28 6713 c.6489C>A c.(6487-6489)caC>caA p.H2163Q TTN_ENST00000342992.6_Missense_Mutation_p.H2163Q|TTN_ENST00000342175.6_Missense_Mutation_p.H2117Q|TTN_ENST00000359218.5_Missense_Mutation_p.H2117Q|TTN_ENST00000360870.5_Missense_Mutation_p.H2163Q|TTN_ENST00000460472.2_Missense_Mutation_p.H2117Q|TTN_ENST00000591111.1_Missense_Mutation_p.H2163Q NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1924 Ig-like 10. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTAAGAATGCGTGACTGGAGG 0.393000 8 58 5.4927e-09 5.85119e-09 1 1 0 USP47 55031 broad.mit.edu 37 11 11957937 11957937 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:11957937G>A ENST00000339865.5 + 16 2516 c.1753G>A c.(1753-1755)Gaa>Aaa p.E585K USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.E673K|USP47_ENST00000527733.1_Missense_Mutation_p.E653K NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 673 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) ACGGTCATATGAAGGAGAAGA 0.398000 12 43 0 0 1 0 0 SLC2A8 29988 broad.mit.edu 37 9 130167755 130167755 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:130167755C>T ENST00000373371.3 + 9 1296 c.1207C>T c.(1207-1209)Ctg>Ttg p.L403L SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Silent_p.L140L NM_001271712.1|NM_014580.3 NP_001258641.1|NP_055395.2 Q9NY64 GTR8_HUMAN solute carrier family 2 (facilitated glucose transporter), member 8 403 cytoplasmic vesicle membrane|integral to plasma membrane D-glucose transmembrane transporter activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 11 GATCTTCCCTCTGCATGTCAA 0.627000 14 32 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215813826 215813826 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:215813826G>C ENST00000272895.7 - 46 7119 c.6900C>G c.(6898-6900)ttC>ttG p.F2300L ABCA12_ENST00000389661.4_Missense_Mutation_p.F1982L|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2300 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TCAGCATCTTGAATATAGTGG 0.393000 21 69 0 0 1 0 0 RNF20 56254 broad.mit.edu 37 9 104303103 104303103 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:104303103C>T ENST00000389120.3 + 5 564 c.474C>T c.(472-474)ttC>ttT p.F158F NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 158 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) CTTTCTCTTTCCTTGCTACTT 0.483000 20 34 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113275983 113275983 + Silent SNP G G A rs61754530 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:113275983G>A ENST00000297405.5 - 61 9991 c.9747C>T c.(9745-9747)ttC>ttT p.F3249F CSMD3_ENST00000343508.3_Silent_p.F3209F|CSMD3_ENST00000455883.2_Silent_p.F3080F|CSMD3_ENST00000352409.3_Silent_p.F3179F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3249 Sushi 25. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGCCCCAGTCGAAATTTGTTC 0.453000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 52 0 0 1 0 0 TM4SF4 7104 broad.mit.edu 37 3 149220466 149220466 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:149220466G>C ENST00000305354.4 + 5 1499 c.595G>C c.(595-597)Gat>Cat p.D199H NM_004617.3 NP_004608.1 P48230 T4S4_HUMAN transmembrane 4 L six family member 4 199 integral to membrane large_intestine(3)|lung(4)|ovary(1)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CTTCTAGGGAGATGGACCCGT 0.403000 22 84 0 0 1 0 0 BNIPL 149428 broad.mit.edu 37 1 151018334 151018334 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:151018334C>G ENST00000295294.7 + 8 1276 c.667C>G c.(667-669)Ctg>Gtg p.L223V BNIPL_ENST00000491386.1_3'UTR|BNIPL_ENST00000368931.3_Missense_Mutation_p.L305V NM_001159642.1 NP_001153114.1 Q7Z465 BNIPL_HUMAN BCL2/adenovirus E1B 19kD interacting protein like 305 CRAL-TRIO. apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate cytosol|nucleus identical protein binding autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1) 10 Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GAAAGCATTTCTGGCACTGCT 0.453000 61 74 0 0 1 0 0 PJA2 9867 broad.mit.edu 37 5 108691666 108691666 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:108691666G>C ENST00000361189.2 - 7 1953 c.1714C>G c.(1714-1716)Cag>Gag p.Q572E PJA2_ENST00000361557.3_Missense_Mutation_p.Q572E NM_014819.4 NP_055634.3 O43164 PJA2_HUMAN praja ring finger 2, E3 ubiquitin protein ligase 572 Interaction with PRKAR1A, PRKAR2A and PRKAR2B. long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) GTAAGGAACTGAGGATCCACA 0.383000 26 49 0 0 1 0 0 HGS 9146 broad.mit.edu 37 17 79657710 79657710 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:79657710G>A ENST00000329138.4 + 7 610 c.475G>A c.(475-477)Gac>Aac p.D159N NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 159 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) TCAGGCCCCAGACTGGGTGGA 0.682000 8 41 0 0 1 0 0 TRIM33 51592 broad.mit.edu 37 1 114967341 114967341 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:114967341C>G ENST00000358465.2 - 10 1815 c.1732G>C c.(1732-1734)Ggc>Cgc p.G578R TRIM33_ENST00000450349.2_Missense_Mutation_p.G186R|TRIM33_ENST00000369543.2_Missense_Mutation_p.G578R NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 578 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCATGTTGCCTCTTTGCATT 0.388000 T RET papillary thyroid 27 31 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95514981 95514981 + RNA SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:95514981C>G ENST00000432432.2 - 0 676 NR_040113.1 TACTTGCTTTCTTTTTCAATA 0.323000 12 232 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23287284 23287284 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:23287284C>G ENST00000298032.5 + 11 1467 c.1383C>G c.(1381-1383)ctC>ctG p.L461L ARMC3_ENST00000409983.3_Silent_p.L461L|ARMC3_ENST00000409049.3_Silent_p.L461L|ARMC3_ENST00000376528.4_Silent_p.L198L NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 461 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 AAGCTGCTCTCGCTGTCACCG 0.502000 7 20 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215823163 215823163 + Missense_Mutation SNP G G C rs138503581 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:215823163G>C ENST00000272895.7 - 41 6174 c.5955C>G c.(5953-5955)atC>atG p.I1985M ABCA12_ENST00000389661.4_Missense_Mutation_p.I1667M|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1985 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTAAAATATCGATTAAACTGC 0.393000 8 34 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124392387 124392387 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:124392387C>T ENST00000338354.3 + 48 6097 c.5991C>T c.(5989-5991)ctC>ctT p.L1997L DMBT1_ENST00000368909.3_Silent_p.L1997L|DMBT1_ENST00000359586.6_Silent_p.L717L|DMBT1_ENST00000368955.3_Silent_p.L1987L|DMBT1_ENST00000344338.3_Silent_p.L1987L|DMBT1_ENST00000330163.4_Silent_p.L1369L|DMBT1_ENST00000368956.2_Silent_p.L1369L Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1997 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CTCCTTTTCTCAACATCACCC 0.498000 4 8 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119135096 119135096 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:119135096G>A ENST00000264245.4 + 12 4852 c.4320G>A c.(4318-4320)ggG>ggA p.G1440G NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1440 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GAAGAAGTGGGAGGCAAATAG 0.458000 6 39 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51515674 51515674 + Missense_Mutation SNP G G C rs143619747 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:51515674G>C ENST00000328188.1 + 1 393 c.393G>C c.(391-393)atG>atC p.M131I NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 TGCACTATATGACTATCATGA 0.478000 43 67 0 0 1 0 0 TAF7 6879 broad.mit.edu 37 5 140698943 140698943 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:140698943G>C ENST00000313368.5 - 1 1387 c.669C>G c.(667-669)ttC>ttG p.F223L NM_005642.2 NP_005633.2 Q15545 TAF7_HUMAN TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa 223 negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGGTCATTGAATATCTCCC 0.473000 40 46 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37337945 37337945 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:37337945G>A ENST00000373091.3 - 4 592 c.576C>T c.(574-576)atC>atT p.I192I GRIK3_ENST00000373093.4_Silent_p.I192I NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 192 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) ATGGGGCCATGATGAGCTCCT 0.577000 10 53 0 0 1 0 0 ZKSCAN4 387032 broad.mit.edu 37 6 28214835 28214835 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:28214835G>C ENST00000377294.2 - 4 933 c.690C>G c.(688-690)ctC>ctG p.L230L ZKSCAN4_ENST00000423974.2_Silent_p.L75L NM_019110.3 NP_061983.2 Q969J2 ZKSC4_HUMAN zinc finger with KRAB and SCAN domains 4 230 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 ACCCAGGAGTGAGGGTCAGGG 0.478000 28 33 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49093573 49093573 + Nonsense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:49093573G>A ENST00000261900.3 - 5 706 c.484C>T c.(484-486)Caa>Taa p.Q162* NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 162 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 CGAACAAGTTGAGTGCACTTT 0.343000 31 133 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37029032 37029032 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:37029032G>A ENST00000358047.3 + 1 2601 c.2549G>A c.(2548-2550)aGa>aAa p.R850K NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 850 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CACACATCGAGAAAACTCCGT 0.463000 28 71 0 0 1 0 0 NAA16 79612 broad.mit.edu 37 13 41897194 41897194 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr13:41897194G>C ENST00000379406.3 + 5 729 c.405G>C c.(403-405)gaG>gaC p.E135D NAA16_ENST00000403412.3_Missense_Mutation_p.E135D|NAA16_ENST00000379367.3_Missense_Mutation_p.E135D NM_024561.4 NP_078837.3 Q6N069 NAA16_HUMAN N(alpha)-acetyltransferase 16, NatA auxiliary subunit 135 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2) 31 TTTTTTAGGAGACAAGATACC 0.343000 6 96 0 0 1 0 0 P2RY12 64805 broad.mit.edu 37 3 151056546 151056546 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:151056546G>C ENST00000302632.3 - 3 387 c.88C>G c.(88-90)Ctg>Gtg p.L30V MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron NM_022788.4|NM_176876.2 NP_073625.1|NP_795345.1 Q9H244 P2Y12_HUMAN purinergic receptor P2Y, G-protein coupled, 12 30 platelet activation integral to membrane|plasma membrane guanyl-nucleotide exchange factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374) GTGTAGAGCAGTGGGAAGAGG 0.443000 9 42 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27106387 27106387 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:27106387G>C ENST00000324856.7 + 20 6369 c.5998G>C c.(5998-6000)Gag>Cag p.E2000Q ARID1A_ENST00000374152.2_Missense_Mutation_p.E1617Q|ARID1A_ENST00000540690.1_Missense_Mutation_p.E328Q|ARID1A_ENST00000457599.2_Missense_Mutation_p.E1783Q NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 2000 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CAATGACTTTGAGATGTCCAA 0.527000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 18 48 0 0 1 0 0 HID1 283987 broad.mit.edu 37 17 72954796 72954796 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:72954796G>C ENST00000425042.2 - 10 1289 c.1212C>G c.(1210-1212)ttC>ttG p.F404L NM_030630.2 NP_085133.1 HID1 domain containing CGTTGAGGAAGAAGAGGATGG 0.612000 OREG0024721 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 26 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126708422 126708422 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:126708422G>A ENST00000251772.4 + 1 986 c.917G>A c.(916-918)gGc>gAc p.G306D PLXNA1_ENST00000393409.2_Missense_Mutation_p.G329D Q9UIW2 PLXA1_HUMAN plexin A1 329 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CACCAGCTGGGCCTGGCTGAG 0.657000 24 86 0 0 1 0 0 CACNA1I 8911 broad.mit.edu 37 22 39996539 39996539 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:39996539C>T ENST00000336649.4 + 5 363 c.363C>T c.(361-363)ttC>ttT p.F121F CACNA1I_ENST00000400164.3_Silent_p.F121F|CACNA1I_ENST00000404898.1_Silent_p.F121F|CACNA1I_ENST00000402142.3_Silent_p.F121F|CACNA1I_ENST00000401624.1_Silent_p.F121F|CACNA1I_ENST00000407673.1_Silent_p.F121F Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 121 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) TTGATGACTTCATCTTTATCT 0.567000 11 30 0 0 1 0 0 DUSP9 1852 broad.mit.edu 37 X 152915626 152915626 + Nonsense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:152915626G>T ENST00000342782.3 + 4 1286 c.1021G>T c.(1021-1023)Gag>Tag p.E341* DUSP9_ENST00000370167.4_Nonsense_Mutation_p.E341* Q99956 DUS9_HUMAN dual specificity phosphatase 9 341 Tyrosine-protein phosphatase. inactivation of MAPK activity|JNK cascade cytosol|endoplasmic reticulum|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTGGACTTTGAGCGCAGCTT 0.607000 50 75 1.32667e-27 1.4804e-27 1 1 0 APOBEC4 403314 broad.mit.edu 37 1 183616819 183616819 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:183616819C>G ENST00000308641.4 - 2 1369 c.1098G>C c.(1096-1098)aaG>aaC p.K366N RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000304685.4_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 366 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 GATTTTATTTCTTCCCTTTCT 0.413000 17 95 0 0 1 0 0 CLP1 10978 broad.mit.edu 37 11 57426946 57426946 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:57426946G>A ENST00000529430.1 + 2 85 c.31G>A c.(31-33)Gag>Aag p.E11K CLP1_ENST00000533682.1_5'UTR|CLP1_ENST00000302731.4_5'UTR|CLP1_ENST00000525602.1_5'UTR Q92989 CLP1_HUMAN cleavage and polyadenylation factor I subunit 1 0 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1) 15 CTACACAGAAGAGATGGGAGA 0.428000 4 32 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112605344 112605344 + Nonsense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:112605344G>T ENST00000341068.3 - 15 2521 c.1749C>A c.(1747-1749)taC>taA p.Y583* NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 583 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 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 TAGAATGAATGTAAGTTCCAA 0.403000 57 140 1.17253e-29 1.30991e-29 1 1 0 HOXA10 3206 broad.mit.edu 37 7 27213894 27213894 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:27213894G>A ENST00000283921.4 - 1 31 c.32C>T c.(31-33)tCg>tTg p.S11L RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000396344.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron NM_018951.3 NP_061824.3 P31260 HXA10_HUMAN homeobox A10 11 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 9 ATAATTTGGCGAAGGGAGCAG 0.587000 28 46 0 0 1 0 0 MYO1G 64005 broad.mit.edu 37 7 45009674 45009674 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:45009674C>G ENST00000258787.7 - 10 1433 c.1297G>C c.(1297-1299)Gaa>Caa p.E433Q NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 433 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 TCGTACTCTTCCTGTTCCTGC 0.612000 4 16 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234669410 234669410 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:234669410C>G ENST00000360418.3 + 1 477 c.477C>G c.(475-477)atC>atG p.I159M UGT1A6_ENST00000373424.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.I159M|UGT1A1_ENST00000608383.1_Missense_Mutation_p.I159M|UGT1A4_ENST00000373409.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron P22309 UD11_HUMAN 159 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GCAGCCCCATCGTGGCCCAGT 0.557000 23 103 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105164886 105164886 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:105164886G>A ENST00000369797.3 + 5 604 c.510G>A c.(508-510)ctG>ctA p.L170L NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 170 S1 motif 1. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) AGCTGTCTCTGAACCCCAAAA 0.527000 16 30 0 0 1 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154988247 154988247 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:154988247G>A ENST00000368426.3 + 3 1248 c.1111G>A c.(1111-1113)Gag>Aag p.E371K ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E371K|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E371K|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E405K NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 371 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CCACACAGGCGAGAAGCCCTT 0.647000 16 61 0 0 1 0 0 RBAK 57786 broad.mit.edu 37 7 5104216 5104216 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:5104216G>A ENST00000396912.1 + 5 1648 c.1129G>A c.(1129-1131)Gaa>Aaa p.E377K RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.E377K NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 377 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) TCCATGTAACGAATGTGGGAA 0.468000 48 59 0 0 1 0 0 EXOC2 55770 broad.mit.edu 37 6 553871 553871 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:553871C>G ENST00000230449.4 - 21 2239 c.2104G>C c.(2104-2106)Gac>Cac p.D702H EXOC2_ENST00000448181.3_Missense_Mutation_p.D297H NM_018303.5 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 702 exocytosis|protein transport breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) AAGCTGAAGTCTTCATGGATA 0.368000 7 66 0 0 1 0 0 GLCE 26035 broad.mit.edu 37 15 69548288 69548288 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr15:69548288G>C ENST00000261858.2 + 3 371 c.143G>C c.(142-144)aGa>aCa p.R48T GLCE_ENST00000559420.2_5'UTR NM_015554.1 NP_056369.1 O94923 GLCE_HUMAN glucuronic acid epimerase 48 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 AGTGGCTTCAGAGTGGATGGG 0.458000 11 60 0 0 1 0 0 TBC1D5 9779 broad.mit.edu 37 3 17279814 17279814 + Missense_Mutation SNP T T A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:17279814T>A ENST00000253692.7 - 17 3093 c.1429A>T c.(1429-1431)Agt>Tgt p.S477C TBC1D5_ENST00000429924.2_Missense_Mutation_p.S429C|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429383.4_Missense_Mutation_p.S477C|TBC1D5_ENST00000446818.2_Missense_Mutation_p.S477C NM_014744.2 NP_055559.1 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 477 intracellular protein binding|Rab GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 36 CCACCTGCACTGCCTGGAGCC 0.502000 13 38 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39798399 39798399 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:39798399C>G ENST00000564288.1 + 37 6916 c.6139C>G c.(6139-6141)Cag>Gag p.Q2047E MACF1_ENST00000567887.1_Missense_Mutation_p.Q2084E|MACF1_ENST00000289893.4_Missense_Mutation_p.Q487E|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.Q2052E|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000317713.7_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2052 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GTTTTCTTCTCAGAACAAAGA 0.433000 3 59 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31391162 31391162 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:31391162G>A ENST00000268296.4 + 25 3074 c.2953G>A c.(2953-2955)Gat>Aat p.D985N ITGAX_ENST00000562522.1_Missense_Mutation_p.D985N NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 985 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 TGTGTGGATGGATGTGGAGGT 0.587000 5 13 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31799699 31799699 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:31799699G>A ENST00000446923.2 + 5 923 c.532G>A c.(532-534)Gaa>Aaa p.E178K ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Missense_Mutation_p.E194K|ZEB1_ENST00000361642.5_Missense_Mutation_p.E195K|ZEB1_ENST00000560721.2_Missense_Mutation_p.E174K|ZEB1_ENST00000542815.3_Missense_Mutation_p.E127K NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 194 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) ATATCGTCATGAAAAGAATGA 0.383000 13 72 0 0 1 0 0 C12orf55 144535 broad.mit.edu 37 12 97045378 97045378 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:97045378C>G ENST00000524981.4 + 36 4908 c.4885C>G c.(4885-4887)Cgt>Ggt p.R1629G chromosome 12 open reading frame 55 TCTTGCTCATCGTGGTGGCTA 0.378000 15 40 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92731759 92731759 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:92731759C>G ENST00000379958.2 - 3 3921 c.3652G>C c.(3652-3654)Gat>Cat p.D1218H NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1218 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TTTTTATTATCAAAAAAAGGA 0.338000 38 64 0 0 1 0 0 THAP7-AS1 439931 broad.mit.edu 37 22 21363359 21363359 + RNA SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:21363359G>C ENST00000452284.1 + 0 1026 TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA NR_027051.1 AGTTGGTTTGGAATTCTGTCA 0.577000 11 28 0 0 1 0 0 PCNXL4 64430 broad.mit.edu 37 14 60590987 60590987 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:60590987G>C ENST00000406854.1 + 9 2652 c.2098G>C c.(2098-2100)Gat>Cat p.D700H PCNXL4_ENST00000535349.1_5'UTR|PCNXL4_ENST00000404681.2_Missense_Mutation_p.D700H|PCNXL4_ENST00000317623.4_Missense_Mutation_p.D466H|PCNXL4_ENST00000406949.1_Missense_Mutation_p.D466H pecanex-like 4 (Drosophila) TCGCAGAGTTGATGAAGTTTT 0.353000 4 9 0 0 1 0 0 GPRIN1 114787 broad.mit.edu 37 5 176023997 176023997 + Missense_Mutation SNP C C G rs147780512 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:176023997C>G ENST00000303991.4 - 2 3016 c.2839G>C c.(2839-2841)Gag>Cag p.E947Q NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 947 Interaction with GNAO1 (By similarity). growth cone|plasma membrane p.E947Q(1) NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCGTGCTCCTCGATCTGTCGC 0.746000 6 16 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119738401 119738401 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:119738401C>G ENST00000313400.4 - 9 1843 c.1743G>C c.(1741-1743)aaG>aaC p.K581N ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.K530N|ASTN2_ENST00000373996.3_Missense_Mutation_p.K581N O75129 ASTN2_HUMAN astrotactin 2 581 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 ACCTGAGAATCTTTTCAGGGG 0.493000 8 12 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64167368 64167368 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:64167368C>T ENST00000395391.1 + 4 2061 c.686C>T c.(685-687)tCa>tTa p.S229L ZNF107_ENST00000344930.3_Missense_Mutation_p.S229L|ZNF107_ENST00000423627.1_Missense_Mutation_p.S229L Q9UII5 ZN107_HUMAN zinc finger protein 107 229 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) AGCCAGTCCTCACACCTTACT 0.358000 21 58 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54327330 54327330 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:54327330C>T ENST00000324134.6 - 1 267 c.99G>A c.(97-99)ggG>ggA p.G33G NLRP12_ENST00000345770.5_Silent_p.G33G|NLRP12_ENST00000351894.4_Silent_p.G33G|NLRP12_ENST00000391773.1_Silent_p.G33G|NLRP12_ENST00000354278.3_Silent_p.G33G|NLRP12_ENST00000391772.1_Silent_p.G33G|NLRP12_ENST00000391775.3_Silent_p.G33G|NLRP12_ENST00000535162.1_Silent_p.G33G NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 33 DAPIN. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CTGTCGCGGTCCCCAGGTATA 0.602000 11 63 0 0 1 0 0 SMG5 23381 broad.mit.edu 37 1 156238196 156238196 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:156238196C>G ENST00000361813.5 - 8 868 c.724G>C c.(724-726)Gaa>Caa p.E242Q SMG5_ENST00000368267.5_Missense_Mutation_p.E242Q NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 242 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) AAGGACACTTCTGACTGGATG 0.478000 77 93 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124390626 124390626 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:124390626G>A ENST00000291478.5 + 15 1892 c.1729G>A c.(1729-1731)Gag>Aag p.E577K KALRN_ENST00000360013.3_Missense_Mutation_p.E2274K|KALRN_ENST00000459915.1_Missense_Mutation_p.E366K|KALRN_ENST00000393496.1_Missense_Mutation_p.E615K|KALRN_ENST00000428018.2_Missense_Mutation_p.E545K NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase apoptosis|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|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TGCGGGCTCAGAGAAGCCCCC 0.577000 18 69 0 0 1 0 0 ICK 22858 broad.mit.edu 37 6 52884028 52884028 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:52884028C>G ENST00000356971.3 - 7 977 c.488G>C c.(487-489)aGa>aCa p.R163T ICK_ENST00000350082.5_Missense_Mutation_p.R163T NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 163 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TATTCACCATCTGGTAGATAC 0.328000 11 47 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87759715 87759715 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:87759715C>T ENST00000398204.4 + 10 1089 c.766C>T c.(766-768)Cgg>Tgg p.R256W ADAM22_ENST00000265727.7_Missense_Mutation_p.R256W|ADAM22_ENST00000439864.1_Missense_Mutation_p.R256W|ADAM22_ENST00000398201.4_Missense_Mutation_p.R256W|ADAM22_ENST00000398209.3_Missense_Mutation_p.R256W|ADAM22_ENST00000315984.7_Missense_Mutation_p.R256W NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 256 Peptidase M12B. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TAAAAAACATCGGCTTTCCGT 0.368000 12 71 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814238 137814238 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:137814238G>C ENST00000409968.1 + 3 566 c.388G>C c.(388-390)Gag>Cag p.E130Q THSD7B_ENST00000272643.3_Missense_Mutation_p.E130Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.E99Q thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TCGGACTGCAGAGTGTGTGAC 0.537000 20 37 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62728770 62728770 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:62728770C>G ENST00000371153.4 - 7 2911 c.2533G>C c.(2533-2535)Gag>Cag p.E845Q KANK4_ENST00000317477.4_5'UTR|KANK4_ENST00000371150.1_Missense_Mutation_p.E201Q|KANK4_ENST00000354381.3_Missense_Mutation_p.E217Q NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 845 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 TGACCTGTCTCCAGCAGCAGC 0.463000 4 11 0 0 1 0 0 ZIC5 85416 broad.mit.edu 37 13 100617675 100617675 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr13:100617675C>G ENST00000267294.4 - 2 2181 c.1948G>C c.(1948-1950)Gag>Cag p.E650Q NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 650 cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TAAATTTCCTCATCTTCAGTC 0.478000 22 59 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175795 140175795 + Nonsense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:140175795G>T ENST00000526136.1 + 1 1246 c.1246G>T c.(1246-1248)Gag>Tag p.E416* PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Nonsense_Mutation_p.E416*|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Nonsense_Mutation_p.E416* NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTGGACCGCGAGAGCGTGTC 0.627000 30 77 8.16721e-17 8.9886e-17 1 1 0 CCDC173 129881 broad.mit.edu 37 2 170502475 170502475 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:170502475C>G ENST00000447353.1 - 9 1640 c.1535G>C c.(1534-1536)aGa>aCa p.R512T NM_001085447.1 NP_001078916.1 coiled-coil domain containing 173 TAATCCACCTCTGTCCACAAA 0.408000 40 73 0 0 1 0 0 FEN1 2237 broad.mit.edu 37 11 61563671 61563671 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:61563671C>T ENST00000305885.2 + 2 1251 c.838C>T c.(838-840)Cac>Tac p.H280Y FADS2_ENST00000574708.1_Intron NM_004111.5 NP_004102.1 P39748 FEN1_HUMAN flap structure-specific endonuclease 1 280 base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection mitochondrion|nucleolus|nucleoplasm 5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity endometrium(1)|large_intestine(4)|lung(1)|ovary(1) 7 CAAGGAGGCTCACCAGCTCTT 0.537000 Editing and processing nucleases 4 19 0 0 1 0 0 IDI2 91734 broad.mit.edu 37 10 1070541 1070541 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:1070541C>G ENST00000277517.1 - 2 187 c.123G>C c.(121-123)ctG>ctC p.L41L IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000434470.1_RNA NM_033261.2 NP_150286.1 Q9BXS1 IDI2_HUMAN isopentenyl-diphosphate delta isomerase 2 41 carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.143) Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192) TGTTTTCGTTCAGATGGCAAT 0.498000 10 44 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45862128 45862128 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:45862128G>C ENST00000485403.2 - 12 1426 c.1208C>G c.(1207-1209)tCt>tGt p.S403C ERCC2_ENST00000391945.4_Intron|ERCC2_ENST00000391940.4_Missense_Mutation_p.S403C|ERCC2_ENST00000391944.3_Intron NM_001130867.1 NP_001124339.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 0 cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) ttagggatgagatcttttttg 0.398000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 12 29 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124332536 124332536 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:124332536C>T ENST00000409039.3 + 32 5514 c.5489C>T c.(5488-5490)cCc>cTc p.P1830L NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1830 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGTGGGGCCCCCGCCGGCCCA 0.532000 5 75 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34006100 34006100 + Missense_Mutation SNP A A G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:34006100A>G ENST00000297161.2 + 5 703 c.329A>G c.(328-330)tAt>tGt p.Y110C BMPER_ENST00000426693.1_Missense_Mutation_p.Y110C NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 110 VWFC 2. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GGTTGCACCTATGAAGGAAAT 0.448000 8 55 0 0 1 0 0 CEP290 80184 broad.mit.edu 37 12 88452740 88452740 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:88452740C>T ENST00000552810.1 - 49 7046 c.6703G>A c.(6703-6705)Gag>Aag p.E2235K CEP290_ENST00000397838.3_Missense_Mutation_p.E1295K|CEP290_ENST00000547691.2_Missense_Mutation_p.E1295K|CEP290_ENST00000309041.7_Missense_Mutation_p.E2237K NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 2235 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 GTCATCTTCTCATTTAATATC 0.353000 3 39 0 0 1 0 0 MKL1 57591 broad.mit.edu 37 22 40820226 40820226 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:40820226G>C ENST00000396617.3 - 8 1051 c.461C>G c.(460-462)tCt>tGt p.S154C MKL1_ENST00000355630.3_Missense_Mutation_p.S154C|MKL1_ENST00000407029.1_Missense_Mutation_p.S154C|MKL1_ENST00000402042.1_Missense_Mutation_p.S154C NM_001282662.1 NP_001269591.1 Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 154 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GGGGGATGCAGAGGTGGCACT 0.637000 T RBM15 acute megakaryocytic leukemia 58 87 0 0 1 0 0 SPAG8 26206 broad.mit.edu 37 9 35809936 35809936 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:35809936C>T ENST00000484764.1 - 7 1473 c.1433G>A c.(1432-1434)tGa>tAa p.*478* SPAG8_ENST00000340291.2_Intron|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000396638.2_Silent_p.*486* Q99932 SPAG8_HUMAN sperm associated antigen 8 0 acrosomal vesicle|membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) CCTCACCCCTCAGAAAGGAGT 0.498000 13 96 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179393141 179393141 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:179393141G>A ENST00000589042.1 - 361 107461 c.107237C>T c.(107236-107238)tCa>tTa p.S35746L TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S33178L|TTN_ENST00000342175.6_Missense_Mutation_p.S26873L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S26806L|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S26681L|TTN_ENST00000591111.1_Missense_Mutation_p.S34105L|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 34105 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTGACATTTGAAGAAATAGA 0.338000 6 30 0 0 1 0 0 DRG2 1819 broad.mit.edu 37 17 18003719 18003719 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:18003719C>T ENST00000225729.3 + 6 648 c.510C>T c.(508-510)ctC>ctT p.L170L DRG2_ENST00000395726.4_Silent_p.L170L|DRG2_ENST00000583355.1_Intron NM_001388.4 NP_001379.1 P55039 DRG2_HUMAN developmentally regulated GTP binding protein 2 170 G. signal transduction GTP binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 14 all_neural(463;0.228) GCATCCGCCTCAACAAGCACA 0.577000 15 58 0 0 1 0 0 CPSF3 51692 broad.mit.edu 37 2 9580774 9580774 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:9580774C>G ENST00000460593.1 + 8 1942 c.804C>G c.(802-804)ttC>ttG p.F268L CPSF3_ENST00000238112.3_Missense_Mutation_p.F305L Q9UKF6 CPSF3_HUMAN cleavage and polyadenylation specific factor 3, 73kDa 305 histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex 5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308) all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644) CCTTTGTTTTCAAACACATTA 0.408000 18 66 0 0 1 0 0 IGKV1D-8 28904 broad.mit.edu 37 2 90259814 90259814 + RNA SNP T T A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:90259814T>A ENST00000471857.1 + 0 222 GGGCTCCTGCTGCTCTGGCTC 0.522000 21 188 0 0 1 0 0 RAB36 9609 broad.mit.edu 37 22 23495229 23495229 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:23495229G>C ENST00000263116.2 + 5 475 c.435G>C c.(433-435)aaG>aaC p.K145N RAB36_ENST00000341989.4_Missense_Mutation_p.K123N NM_004914.2 NP_004905.2 O95755 RAB36_HUMAN RAB36, member RAS oncogene family 145 protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.155) GGTTTTGCAAGAATGTTTTTG 0.468000 12 70 0 0 1 0 0 MGARP 84709 broad.mit.edu 37 4 140187920 140187920 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:140187920C>G ENST00000398955.1 - 4 735 c.556G>C c.(556-558)Gaa>Caa p.E186Q NM_032623.3 NP_116012.2 Q8TDB4 CD049_HUMAN mitochondria-localized glutamic acid-rich protein 186 integral to membrane GTGACAGCTTCATCCAGGGCA 0.473000 42 163 0 0 1 0 0 CYR61 3491 broad.mit.edu 37 1 86047730 86047730 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:86047730C>T ENST00000451137.2 + 3 621 c.397C>T c.(397-399)Ctg>Ttg p.L133L CYR61_ENST00000480413.1_3'UTR NM_001554.4 NP_001545.2 O00622 CYR61_HUMAN cysteine-rich, angiogenic inducer, 61 133 VWFC. cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells extracellular region heparin binding|insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1) 5 all cancers(265;0.0216)|Epithelial(280;0.0441) CTGCATTCCTCTGTGTCCCCA 0.532000 OREG0013583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 125 0 0 1 0 0 LINC00471 151477 broad.mit.edu 37 2 232378279 232378279 + RNA SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:232378279C>G ENST00000313064.2 - 0 322 NR_024079.1 GACATCTCATCTTCCCCATCT 0.358000 5 51 0 0 1 0 0 GPR31 2853 broad.mit.edu 37 6 167570935 167570935 + Nonsense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:167570935G>A ENST00000366834.1 - 1 882 c.385C>T c.(385-387)Cag>Tag p.Q129* NM_005299.2 NP_005290.2 O00270 GPR31_HUMAN G protein-coupled receptor 31 129 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) AGGGCCGCCTGAGGAGACAGC 0.682000 11 17 0 0 1 0 0 GPR18 2841 broad.mit.edu 37 13 99908020 99908020 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr13:99908020C>G ENST00000340807.3 - 3 663 c.107G>C c.(106-108)gGa>gCa p.G36A GPR18_ENST00000397470.2_Missense_Mutation_p.G36A|GPR18_ENST00000397473.2_Missense_Mutation_p.G36A|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron Q14330 GPR18_HUMAN G protein-coupled receptor 18 36 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) AACAAATAATCCAATTATGAA 0.388000 22 45 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91706275 91706275 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:91706275C>G ENST00000359028.2 + 30 6980 c.6755C>G c.(6754-6756)tCt>tGt p.S2252C AKAP9_ENST00000356239.3_Missense_Mutation_p.S2240C|AKAP9_ENST00000358100.2_Missense_Mutation_p.S2252C Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2252 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAAAAGGAATCTACTACCCGC 0.289000 T BRAF papillary thyroid 25 48 0 0 1 0 0 DHTKD1 55526 broad.mit.edu 37 10 12148393 12148393 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:12148393G>C ENST00000263035.4 + 11 2107 c.2045G>C c.(2044-2046)gGa>gCa p.G682A NM_018706.5 NP_061176 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 682 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) TTCATCTCTGGAGGTTGGTGT 0.557000 84 61 0 0 1 0 0 NF2 4771 broad.mit.edu 37 22 30064420 30064420 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:30064420G>A ENST00000338641.4 + 10 1425 c.984G>A c.(982-984)gaG>gaA p.E328E NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Silent_p.E328E|NF2_ENST00000353887.4_Silent_p.E245E|NF2_ENST00000361166.4_Silent_p.E328E|NF2_ENST00000403999.3_Silent_p.E328E|NF2_ENST00000334961.7_Silent_p.E245E|NF2_ENST00000361676.4_Silent_p.E286E|NF2_ENST00000347330.5_Silent_p.E169E|NF2_ENST00000361452.4_Silent_p.E287E|NF2_ENST00000397789.3_Silent_p.E328E NM_000268.3|NM_016418.5|NM_181832.2 NP_000259.1|NP_057502.2|NP_861970.1 P35240 MERL_HUMAN neurofibromin 2 (merlin) 328 Glu-rich. actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane cytoskeletal protein binding|protein binding p.?(4)|p.I296_Q333del(1)|p.Q324fs*12(1) NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 776 CCAGGGAGGAGAAGGCTAGAA 0.512000 """D, Mis, N, F, S, O""" """meningioma, acoustic neuroma, renal """ """meningioma, acoustic neuroma""" Neurofibromatosis, type 2 11 16 0 0 1 0 0 NFYC 4802 broad.mit.edu 37 1 41236499 41236499 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:41236499G>A ENST00000372652.1 + 10 1587 c.1319G>A c.(1318-1320)tGa>tAa p.*440* NFYC_ENST00000372651.1_Silent_p.*336*|NFYC_ENST00000372654.1_Silent_p.*336*|NFYC_ENST00000440226.3_Silent_p.*336*|NFYC_ENST00000447388.3_Silent_p.*336*|NFYC_ENST00000308733.5_Silent_p.*459*|NFYC_ENST00000456393.2_Silent_p.*335*|NFYC_ENST00000425457.2_Silent_p.*355*|NFYC_ENST00000427410.2_Silent_p.*298*|NFYC_ENST00000372653.1_Silent_p.*302* Q13952 NFYC_HUMAN nuclear transcription factor Y, gamma 0 protein folding|regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.72e-17) ACCGGCGACTGAGGGCCTGAG 0.657000 4 39 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75950813 75950813 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:75950813G>C ENST00000274364.6 + 20 2602 c.2305G>C c.(2305-2307)Gac>Cac p.D769H IQGAP2_ENST00000396234.3_Missense_Mutation_p.D265H|IQGAP2_ENST00000502745.1_Missense_Mutation_p.D265H|IQGAP2_ENST00000379730.3_Missense_Mutation_p.D271H NM_006633.2 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 769 IQ 3. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AGCTAGAGATGACTACAAAAC 0.393000 12 62 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160506147 160506147 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:160506147G>C ENST00000356956.1 + 41 6337 c.6189G>C c.(6187-6189)caG>caC p.Q2063H NM_000876.2 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 2063 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TTCACACGCAGAAGCTGGGTG 0.552000 8 24 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142658935 142658935 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:142658935C>G ENST00000355265.2 - 2 502 c.28G>C c.(28-30)Gag>Cag p.E10Q KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 10 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TCCCTCGGCTCTTCCTCACTT 0.537000 33 139 0 0 1 0 0 ZNF543 125919 broad.mit.edu 37 19 57839842 57839842 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:57839842C>T ENST00000321545.4 + 4 1357 c.1012C>T c.(1012-1014)Ccc>Tcc p.P338S NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GGGAGAGAAGCCCTATGAGTG 0.507000 20 62 0 0 1 0 0 LCLAT1 253558 broad.mit.edu 37 2 30785065 30785065 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:30785065G>A ENST00000309052.4 + 5 741 c.532G>A c.(532-534)Gac>Aac p.D178N LCLAT1_ENST00000379509.3_Missense_Mutation_p.D140N|LCLAT1_ENST00000319406.4_Missense_Mutation_p.D178N|LCLAT1_ENST00000359433.1_Missense_Mutation_p.D178N|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000540623.1_Missense_Mutation_p.D140N NM_182551.3 NP_872357.2 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 178 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 ATGGAAGGATGACAAGAGCCA 0.373000 22 63 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67281174 67281174 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:67281174C>T ENST00000258201.4 - 1 387 c.140G>A c.(139-141)gGg>gAg p.G47E NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 47 actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding 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) GGGCAGCGCCCCGTCCAGGCT 0.697000 8 4 0 0 1 0 0 RCVRN 5957 broad.mit.edu 37 17 9801509 9801509 + Missense_Mutation SNP T T A rs111535086 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:9801509T>A ENST00000226193.5 - 3 946 c.506A>T c.(505-507)gAg>gTg p.E169V RCVRN_ENST00000570909.3_5'UTR NM_002903.2 NP_002894.1 P35243 RECO_HUMAN recoverin 169 EF-hand 4. visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 12 GAATTCTTTCTCTGTAAGTTT 0.418000 19 102 0 0 1 0 0 PTGFR 5737 broad.mit.edu 37 1 78959032 78959032 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:78959032C>G ENST00000370756.3 + 2 841 c.604C>G c.(604-606)Ctt>Gtt p.L202V PTGFR_ENST00000370758.1_Missense_Mutation_p.L202V|PTGFR_ENST00000370757.3_Missense_Mutation_p.L202V NM_001039585.1 NP_001034674.1 P43088 PF2R_HUMAN prostaglandin F receptor (FP) 202 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) TAGATTTTATCTTCTACTTTT 0.393000 10 74 0 0 1 0 0 VEGFA 7422 broad.mit.edu 37 6 43745253 43745253 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:43745253G>A ENST00000372067.3 + 3 1200 c.706G>A c.(706-708)Gag>Aag p.E236K VEGFA_ENST00000372055.4_Missense_Mutation_p.E236K|VEGFA_ENST00000518824.1_Missense_Mutation_p.E56K|VEGFA_ENST00000425836.2_Missense_Mutation_p.E236K|VEGFA_ENST00000324450.6_Missense_Mutation_p.E236K|VEGFA_ENST00000520948.1_Missense_Mutation_p.E56K|VEGFA_ENST00000417285.2_Missense_Mutation_p.E236K|VEGFA_ENST00000372064.4_Missense_Mutation_p.E236K|VEGFA_ENST00000518689.1_Missense_Mutation_p.E56K|VEGFA_ENST00000523125.1_Missense_Mutation_p.E56K|VEGFA_ENST00000413642.3_Missense_Mutation_p.E236K|VEGFA_ENST00000523950.1_Missense_Mutation_p.E56K|VEGFA_ENST00000523873.1_Missense_Mutation_p.E56K|VEGFA_ENST00000372077.4_Missense_Mutation_p.E56K|VEGFA_ENST00000482630.2_Missense_Mutation_p.E236K|VEGFA_ENST00000457104.2_Missense_Mutation_p.E56K|VEGFA_ENST00000230480.6_Missense_Mutation_p.E28K NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5 NP_001020537.2|NP_001020538.2|NP_001020539|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4 P15692 VEGFA_HUMAN vascular endothelial growth factor A 56 basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis cell surface|extracellular space|membrane|platelet alpha granule lumen cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 9 all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309) all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196) Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641) CCATCCAATCGAGACCCTGGT 0.547000 12 58 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158582732 158582732 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:158582732C>G ENST00000368147.4 - 51 7189 c.7009G>C c.(7009-7011)Gag>Cag p.E2337Q NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) EF-hand 2. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GTATAGTCCTCCAGTGAGACA 0.478000 8 39 0 0 1 0 0 POLA1 5422 broad.mit.edu 37 X 24766501 24766501 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:24766501G>C ENST00000379068.3 + 25 2808 c.2765G>C c.(2764-2766)cGg>cCg p.R922P POLA1_ENST00000379059.3_Missense_Mutation_p.R916P P09884 DPOLA_HUMAN polymerase (DNA directed), alpha 1, catalytic subunit 916 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding p.R916Q(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) AGAGAGATCCGGAAACTGGTA 0.398000 4 70 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200971448 200971448 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:200971448C>T ENST00000332129.2 - 9 1559 c.1243G>A c.(1243-1245)Gag>Aag p.E415K KIF21B_ENST00000461742.2_Missense_Mutation_p.E415K|KIF21B_ENST00000422435.2_Missense_Mutation_p.E415K|KIF21B_ENST00000360529.5_Missense_Mutation_p.E415K NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 415 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CTATAGCCCTCAGCGCCATCC 0.607000 23 102 0 0 1 0 0 SNAI2 6591 broad.mit.edu 37 8 49832453 49832453 + Splice_Site SNP A A T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:49832453A>T ENST00000396822.1 - 3 983 c.e3+1 SNAI2_ENST00000020945.1_Splice_Site O43623 SNAI2_HUMAN snail family zinc finger 2 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1) 18 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) TTTTTCTCTTACCCGTGTGAG 0.453000 32 62 0 0 1 0 0 RFC4 5984 broad.mit.edu 37 3 186508143 186508143 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:186508143G>C ENST00000392481.2 - 9 1135 c.854C>G c.(853-855)tCt>tGt p.S285C RFC4_ENST00000433496.1_Intron|RFC4_ENST00000296273.2_Missense_Mutation_p.S285C NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 285 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|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 breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) TTTGTCAAAAGAGCCACTCTG 0.363000 27 50 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027964 37027964 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:37027964G>C ENST00000358047.3 + 1 1533 c.1481G>C c.(1480-1482)gGa>gCa p.G494A NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 494 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCCGACACTGGAGTGTCCCAT 0.627000 20 98 0 0 1 0 0 MICAL1 64780 broad.mit.edu 37 6 109770638 109770638 + Missense_Mutation SNP T T C rs146727348 byFrequency TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:109770638T>C ENST00000368952.4 - 11 1828 c.1538A>G c.(1537-1539)aAc>aGc p.N513S MICAL1_ENST00000358577.3_Missense_Mutation_p.N408S|MICAL1_ENST00000358807.3_Missense_Mutation_p.N494S Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 494 CH. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) CTTGTCGTTGTTCCTCTGCAC 0.597000 20 46 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11787043 11787043 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:11787043G>T ENST00000262442.4 + 56 11015 c.10947G>T c.(10945-10947)caG>caT p.Q3649H DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_5'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.Q3649H NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 AAA 5 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCACCAAGCAGACTGCTGCCG 0.507000 4 46 0.150653 0.15144 1 1 0 PRSS35 167681 broad.mit.edu 37 6 84233807 84233807 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:84233807G>C ENST00000536636.1 + 3 992 c.647G>C c.(646-648)aGa>aCa p.R216T PRSS35_ENST00000369700.3_Missense_Mutation_p.R216T NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 216 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GGTGACCAAAGAGAGGGTACC 0.517000 6 29 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190541383 190541383 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:190541383C>T ENST00000520309.1 + 2 255 c.167C>T c.(166-168)tCt>tTt p.S56F ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000313581.4_Missense_Mutation_p.S56F|ANKAR_ENST00000438402.2_Missense_Mutation_p.S56F|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000431575.2_5'UTR NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 56 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) AGCTGGTTGTCTGCCAAAGAG 0.403000 16 78 0 0 1 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186760673 186760673 + Missense_Mutation SNP A A T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:186760673A>T ENST00000169298.3 + 4 856 c.182A>T c.(181-183)cAg>cTg p.Q61L ST6GAL1_ENST00000448044.1_Missense_Mutation_p.Q61L|ST6GAL1_ENST00000457772.2_Intron NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 61 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) TCTGATTCCCAGTCTGTATCC 0.532000 14 78 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42907083 42907083 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:42907083C>G ENST00000244289.4 - 9 2919 c.2643G>C c.(2641-2643)ctG>ctC p.L881L LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 881 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) AGTTTCCCCTCAGGCTCAAGT 0.612000 11 49 0 0 1 0 0 GDPD2 54857 broad.mit.edu 37 X 69649412 69649412 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:69649412C>A ENST00000453994.2 + 11 1367 c.1006C>A c.(1006-1008)Cca>Aca p.P336T GDPD2_ENST00000538649.1_Missense_Mutation_p.P257T|GDPD2_ENST00000536730.1_Missense_Mutation_p.P257T|GDPD2_ENST00000374382.3_Missense_Mutation_p.P336T|GDPD2_ENST00000472623.1_3'UTR NM_001171192.1 NP_001164663.1 Q9HCC8 GDPD2_HUMAN glycerophosphodiester phosphodiesterase domain containing 2 336 GDPD. glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2) 22 Renal(35;0.156) TCAGACGGTACCAGCATTAGA 0.512000 4 38 0.00024832 0.000257686 1 1 0 PRDM4 11108 broad.mit.edu 37 12 108145474 108145474 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:108145474C>G ENST00000228437.5 - 5 1303 c.844G>C c.(844-846)Gac>Cac p.D282H RP11-864J10.4_ENST00000546714.1_RNA NM_012406.3 NP_036538.3 Q9UKN5 PRDM4_HUMAN PR domain containing 4 282 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 AGGGCACTGTCAGACATGCCA 0.537000 15 26 0 0 1 0 0 TIAL1 7073 broad.mit.edu 37 10 121338340 121338340 + Nonsense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:121338340C>A ENST00000369092.4 - 8 1393 c.85G>T c.(85-87)Gaa>Taa p.E29* TIAL1_ENST00000369093.2_Nonsense_Mutation_p.E169*|TIAL1_ENST00000436547.2_Nonsense_Mutation_p.E152* Q01085 TIAR_HUMAN TIA1 cytotoxic granule-associated RNA binding protein-like 1 152 RRM 1. apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter lysosome|nucleus|stress granule nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1) 13 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932) ATCGCATTTTCTGCATCCTAT 0.423000 15 30 8.60227e-14 9.38164e-14 1 1 0 TENM1 10178 broad.mit.edu 37 X 123680846 123680846 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:123680846G>C ENST00000422452.2 - 15 2592 c.2529C>G c.(2527-2529)ctC>ctG p.L843L TENM1_ENST00000371130.3_Silent_p.L843L NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TTTGCTGAATGAGGTCAAGAG 0.438000 15 59 0 0 1 0 0 FOXQ1 94234 broad.mit.edu 37 6 1313480 1313480 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:1313480C>G ENST00000296839.2 + 1 806 c.541C>G c.(541-543)Ctg>Gtg p.L181V NM_033260.3 NP_150285.3 Q9C009 FOXQ1_HUMAN forkhead box Q1 181 DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor 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|ubiquitin conjugating enzyme binding lung(1)|urinary_tract(1) 2 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) CGTCAAGGTGCTGCGCGACCC 0.642000 10 34 0 0 1 0 0 KIR3DL1 3811 broad.mit.edu 37 19 55341591 55341591 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:55341591C>T ENST00000391728.4 + 9 1229 c.1196C>T c.(1195-1197)gCa>gTa p.A399V KIR3DL1_ENST00000326542.7_Missense_Mutation_p.A382V|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.A304V|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.A399V|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.A382V NM_013289.2 NP_037421.2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 11 GBM - Glioblastoma multiforme(193;0.0192) GTGACATACGCACAGTTGGAT 0.517000 6 229 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22924263 22924263 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:22924263G>A ENST00000166244.3 + 11 2097 c.2025G>A c.(2023-2025)gaG>gaA p.E675E NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 675 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GCTACACGGAGAGACAGAGGC 0.652000 30 39 0 0 1 0 0 KDM2A 22992 broad.mit.edu 37 11 67022358 67022358 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:67022358G>C ENST00000529006.2 + 21 3767 c.3321G>C c.(3319-3321)ttG>ttC p.L1107F KDM2A_ENST00000308783.5_Missense_Mutation_p.L565F|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.L668F NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 1107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 GCAATAAATTGACAGACCAGA 0.488000 4 20 0 0 1 0 0 STRADA 92335 broad.mit.edu 37 17 61790876 61790876 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:61790876C>G ENST00000245865.5 - 5 273 c.64G>C c.(64-66)Gag>Cag p.E22Q STRADA_ENST00000392950.4_Missense_Mutation_p.E43Q|STRADA_ENST00000582137.1_Missense_Mutation_p.E51Q|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000375840.4_Missense_Mutation_p.E22Q|STRADA_ENST00000579340.1_Missense_Mutation_p.E22Q|STRADA_ENST00000336174.6_Missense_Mutation_p.E80Q|STRADA_ENST00000447001.3_Missense_Mutation_p.E36Q|RP11-51F16.8_ENST00000580553.1_3'UTR Q7RTN6 STRAA_HUMAN STE20-related kinase adaptor alpha 80 activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|kinase binding|protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2) 13 ATCAGGTCCTCAAATCCTTTG 0.388000 22 95 0 0 1 0 0 ALG12 79087 broad.mit.edu 37 22 50307276 50307276 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:50307276G>A ENST00000330817.6 - 2 411 c.138C>T c.(136-138)ctC>ctT p.L46L NM_024105.3 NP_077010.1 Q9BV10 ALG12_HUMAN ALG12, alpha-1,6-mannosyltransferase dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3) 12 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) GCCAGTGGTAGAGCAGGTCAT 0.612000 23 26 0 0 1 0 0 RILPL2 196383 broad.mit.edu 37 12 123907666 123907666 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:123907666C>T ENST00000280571.8 - 3 826 c.530G>A c.(529-531)aGa>aAa p.R177K NM_145058.1 NP_659495.1 Q969X0 RIPL2_HUMAN Rab interacting lysosomal protein-like 2 177 cytosol|plasma membrane identical protein binding endometrium(1)|large_intestine(2)|lung(2)|skin(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168) ATCTTTTTCTCTTCTTCCTCC 0.413000 10 49 0 0 1 0 0 CRTC1 23373 broad.mit.edu 37 19 18860678 18860678 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:18860678G>A ENST00000338797.6 + 6 604 c.579G>A c.(577-579)caG>caA p.Q193Q CRTC1_ENST00000601916.1_Silent_p.Q102Q|CRTC1_ENST00000321949.8_Silent_p.Q177Q|CRTC1_ENST00000594658.1_Silent_p.Q136Q NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 177 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 ACGTGCACCAGAAAAGAGGTA 0.597000 12 26 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73718610 73718610 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:73718610C>G ENST00000264448.6 + 10 9632 c.9521C>G c.(9520-9522)cCa>cGa p.P3174R ALMS1_ENST00000409009.1_Missense_Mutation_p.P3132R NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3174 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GAGGGGACCCCAGTATTTGCA 0.413000 3 35 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101315833 101315833 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:101315833G>A ENST00000369162.2 - 2 385 c.41C>T c.(40-42)tCa>tTa p.S14L ASCC3_ENST00000522650.1_Missense_Mutation_p.S14L|ASCC3_ENST00000369143.2_Missense_Mutation_p.S14L NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 14 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GGTGACATTTGAAAAGGAACG 0.348000 4 24 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 73000551 73000551 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:73000551C>A ENST00000521978.1 + 25 3724 c.3724C>A c.(3724-3726)Ccg>Acg p.P1242T RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000517827.1_Intron NM_014989.5 NP_055804.2 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1242 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GCCACCTTCTCCGCTTCTGAC 0.547000 3 17 0.00909568 0.00922986 1 1 0 IPO7 10527 broad.mit.edu 37 11 9466671 9466671 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:9466671G>T ENST00000379719.3 + 25 3189 c.3047G>T c.(3046-3048)gGa>gTa p.G1016V NM_006391.2 NP_006382.1 O95373 IPO7_HUMAN importin 7 1016 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) AAGCATGGAGGATACAAATTC 0.378000 5 33 0.000274275 0.000284007 1 1 0 SCN10A 6336 broad.mit.edu 37 3 38739575 38739575 + Silent SNP G G A rs144598009 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:38739575G>A ENST00000449082.2 - 27 5135 c.5136C>T c.(5134-5136)atC>atT p.I1712I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1712 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGTTGACCATGATGAGGAAGG 0.522000 28 75 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126401010 126401010 + Nonsense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:126401010C>A ENST00000394329.3 + 14 12601 c.12588C>A c.(12586-12588)taC>taA p.Y4196* FAT4_ENST00000335110.5_Intron NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4196 EGF-like 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTGGGAAATACTGTGAAAAAT 0.398000 7 20 7.48243e-07 7.86635e-07 1 1 0 PACSIN2 11252 broad.mit.edu 37 22 43284697 43284697 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:43284697G>A ENST00000263246.3 - 5 762 c.561C>T c.(559-561)ctC>ctT p.L187L PACSIN2_ENST00000407585.1_Silent_p.L187L|PACSIN2_ENST00000402229.1_Silent_p.L187L|PACSIN2_ENST00000403744.3_Silent_p.L187L|PACSIN2_ENST00000337959.4_Silent_p.L187L NM_001184970.1 NP_001171899.1 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in neurons 2 187 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1) 19 Glioma(61;0.222) GCAATTTCTTGAGCTGTTCAG 0.463000 11 132 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130289661 130289661 + Splice_Site SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:130289661G>A ENST00000358511.6 + 6 2432 c.e6-1 COL6A6_ENST00000453409.2_Splice_Site NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TCCTCTTTCAGAATGCAAGCG 0.388000 4 27 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14806702 14806702 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:14806702G>A ENST00000380881.4 - 19 4049 c.3234C>T c.(3232-3234)ctC>ctT p.L1078L FREM1_ENST00000422223.2_Silent_p.L1077L|FREM1_ENST00000380880.3_Silent_p.L1077L Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1077 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CCACAGAAGGGAGTATATTTT 0.428000 3 14 0 0 1 0 0 BEND6 221336 broad.mit.edu 37 6 56880015 56880015 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:56880015C>G ENST00000370746.3 + 4 652 c.383C>G c.(382-384)tCt>tGt p.S128C BEND6_ENST00000545789.1_Missense_Mutation_p.S30C|BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR NM_152731.2 NP_689944.2 Q5SZJ8 BEND6_HUMAN BEN domain containing 6 128 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 17 ATGTCTACATCTGCATCCACC 0.458000 10 55 0 0 1 0 0 SPATA17 128153 broad.mit.edu 37 1 218036153 218036153 + Nonsense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:218036153C>G ENST00000366933.4 + 10 1098 c.1043C>G c.(1042-1044)tCa>tGa p.S348* SPATA17_ENST00000471021.1_3'UTR NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 348 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) GAGCTCTTCTCAAAGTATGGA 0.284000 76 176 0 0 1 0 0 IGJ 3512 broad.mit.edu 37 4 71522974 71522974 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:71522974G>A ENST00000254801.4 - 3 392 c.223C>T c.(223-225)Ccc>Tcc p.P75S ENAM_ENST00000472903.1_Intron|IGJ_ENST00000543780.1_Missense_Mutation_p.P91S NM_144646.3 NP_653247.1 P01591 IGJ_HUMAN immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides 75 immune response extracellular region antigen binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 Lung(101;0.235) GGTGAGGTGGGATCAGAGATA 0.313000 6 24 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142562357 142562357 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:142562357G>C ENST00000392957.2 + 7 1586 c.799G>C c.(799-801)Gag>Cag p.E267Q EPHB6_ENST00000442129.1_Missense_Mutation_p.E267Q|EPHB6_ENST00000411471.2_Intron NM_004445.3 NP_004436.3 O15197 EPHB6_HUMAN EPH receptor B6 267 Cys-rich. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GGCTCATGCAGAGCCAGAGGA 0.682000 11 53 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28804960 28804960 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:28804960C>T ENST00000327757.5 + 24 1636 c.1592C>T c.(1591-1593)aCa>aTa p.T531I PLB1_ENST00000329020.6_Missense_Mutation_p.T219I|PLB1_ENST00000422425.2_Intron NM_153021.4 NP_694566.4 Q6P1J6 PLB1_HUMAN phospholipase B1 531 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CAGAACTTCACAGACAACATT 0.512000 6 47 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245852042 245852042 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:245852042C>G ENST00000366518.4 + 9 4718 c.4614C>G c.(4612-4614)agC>agG p.S1538R KIF26B_ENST00000407071.2_Missense_Mutation_p.S1919R Q2KJY2 KI26B_HUMAN kinesin family member 26B 1919 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) ACTCCACGAGCGAGAACAGCA 0.701000 3 26 0 0 1 0 0 MOXD1 26002 broad.mit.edu 37 6 132644006 132644006 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:132644006G>C ENST00000367963.3 - 8 1235 c.1117C>G c.(1117-1119)Ctg>Gtg p.L373V MOXD1_ENST00000336749.3_Missense_Mutation_p.L305V|MOXD1_ENST00000489128.1_5'UTR NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 373 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) TCGGCTTCCAGAGCCTACAGG 0.473000 5 10 0 0 1 0 0 CCDC132 55610 broad.mit.edu 37 7 92983073 92983073 + Splice_Site SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:92983073G>A ENST00000544910.1 + 27 2715 c.2495G>A c.(2494-2496)gGa>gAa p.G832E CCDC132_ENST00000535481.1_Splice_Site_p.G582E|CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000305866.5_Splice_Site_p.G862E|CCDC132_ENST00000474412.1_3'UTR NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 862 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) ATTGTAGAAGGGTAAGTTTTT 0.313000 14 49 0 0 1 0 0 ZNF534 147658 broad.mit.edu 37 19 52937307 52937307 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:52937307G>C ENST00000332323.6 + 2 176 c.115G>C c.(115-117)Gag>Cag p.E39Q ZNF534_ENST00000301085.4_Missense_Mutation_p.E39Q|ZNF534_ENST00000432303.2_Missense_Mutation_p.E39Q|ZNF534_ENST00000433050.1_Missense_Mutation_p.E39Q NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 CGTGATGTTAGAGAACTACAG 0.483000 14 100 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62892305 62892305 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:62892305G>A ENST00000584306.1 - 3 1601 c.1071C>T c.(1069-1071)atC>atT p.I357I LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000584959.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000319651.5_Silent_p.I357I NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 357 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GCTGCTCACTGATGGAAAGTT 0.547000 39 127 0 0 1 0 0 PDGFC 56034 broad.mit.edu 37 4 157891978 157891978 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:157891978C>T ENST00000502773.1 - 1 568 c.78G>A c.(76-78)ctG>ctA p.L26L PDGFC_ENST00000541126.1_5'UTR|PDGFC_ENST00000422544.2_Silent_p.L26L NM_016205.2 NP_057289.1 Q9NRA1 PDGFC_HUMAN platelet derived growth factor C 26 central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) ATTTACTACTCAGGTTGGATT 0.547000 OREG0016375 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 37 0 0 1 0 0 ZNF639 51193 broad.mit.edu 37 3 179046084 179046084 + Translation_Start_Site SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:179046084G>C ENST00000326361.3 + 4 448 c.3G>C c.(1-3)atG>atC p.M1I ZNF639_ENST00000484866.1_Start_Codon_SNP_p.M1I|ZNF639_ENST00000496856.1_Start_Codon_SNP_p.M1I NM_016331.1 NP_057415.1 Q9UID6 ZN639_HUMAN zinc finger protein 639 1 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1) 16 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) GAAAAGATATGAATGAGTATC 0.284000 37 27 0 0 1 0 0 FAM214A 56204 broad.mit.edu 37 15 52903803 52903803 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr15:52903803C>G ENST00000261844.7 - 4 525 c.373G>C c.(373-375)Gaa>Caa p.E125Q FAM214A_ENST00000546305.2_Missense_Mutation_p.E132Q NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 125 ATCCATCTTTCTAATAATAAT 0.388000 11 60 0 0 1 0 0 COX11 1353 broad.mit.edu 37 17 53045689 53045689 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:53045689G>A ENST00000299335.3 - 1 457 c.319C>T c.(319-321)Ctg>Ttg p.L107L COX11_ENST00000571584.1_Silent_p.L107L NM_004375.3 NP_004366.1 Q9Y6N1 COX11_HUMAN cytochrome c oxidase assembly homolog 11 (yeast) 107 respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane copper ion binding|cytochrome-c oxidase activity|electron carrier activity endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1) 9 GACGCCCCCAGCATGCCCACG 0.687000 17 23 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145075715 145075715 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:145075715C>T ENST00000369359.4 - 1 186 c.148G>A c.(148-150)Gaa>Aaa p.E50K PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E50K|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.E50K|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.E50K Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CGCCGTCTTTCCCGGCTCGGG 0.721000 T PDGFRB MPD 4 86 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20963831 20963831 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:20963831C>A ENST00000261383.3 - 56 11111 c.11112G>T c.(11110-11112)agG>agT p.R3704S DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3704 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ACATACTAATCCTCAGGTCAG 0.468000 12 16 1.5842e-08 1.68201e-08 1 1 0 ZCCHC10 54819 broad.mit.edu 37 5 132335832 132335832 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:132335832C>G ENST00000324170.3 - 3 303 c.237G>C c.(235-237)aaG>aaC p.K79N ZCCHC10_ENST00000509008.1_Missense_Mutation_p.E89Q|ZCCHC10_ENST00000355372.2_Missense_Mutation_p.K101N|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.E111Q|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000513848.1_Intron|ZCCHC10_ENST00000509437.1_Missense_Mutation_p.K101N NM_017665.1 NP_060135.1 Q8TBK6 ZCH10_HUMAN zinc finger, CCHC domain containing 10 101 nucleic acid binding|zinc ion binding p.K79N(1) skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACCTTTTTTTCTTGGCCTTTC 0.378000 16 32 0 0 1 0 0 NFATC3 4775 broad.mit.edu 37 16 68225423 68225423 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:68225423C>T ENST00000349223.5 + 9 3075 c.2851C>T c.(2851-2853)Cct>Tct p.P951S NFATC3_ENST00000575270.1_Missense_Mutation_p.P951S|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.P951S|NFATC3_ENST00000329524.4_Missense_Mutation_p.P951S NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 951 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) TCAGCCTATGCCTTACCAATC 0.542000 12 31 0 0 1 0 0 AURKC 6795 broad.mit.edu 37 19 57746784 57746784 + Nonstop_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:57746784G>C ENST00000302804.7 + 7 1115 c.929G>C c.(928-930)tGa>tCa p.*310S AURKC_ENST00000415300.2_Nonstop_Mutation_p.*291S|AURKC_ENST00000599062.1_Nonstop_Mutation_p.*307S|AURKC_ENST00000598785.1_Nonstop_Mutation_p.*276S|AURKC_ENST00000448930.1_Nonstop_Mutation_p.*276S NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 0 cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) ATGGCTTCCTGAGCCCTGTCT 0.552000 42 56 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168106680 168106680 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:168106680C>G ENST00000409195.1 + 9 8867 c.8778C>G c.(8776-8778)ttC>ttG p.F2926L XIRP2_ENST00000409273.1_Missense_Mutation_p.F2704L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.F2926L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2751 actin cytoskeleton organization cell junction actin binding p.F2926F(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ACAAATCTTTCTTTTCCTCTG 0.378000 19 60 0 0 1 0 0 HEATR5A 25938 broad.mit.edu 37 14 31782177 31782177 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:31782177C>T ENST00000543095.2 - 28 4622 c.4438G>A c.(4438-4440)Gaa>Aaa p.E1480K HEATR5A_ENST00000439348.1_Missense_Mutation_p.E1474K|HEATR5A_ENST00000439727.1_Missense_Mutation_p.E1187K|HEATR5A_ENST00000389961.3_Missense_Mutation_p.E1474K NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1474 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) TCCTTACCTTCAGCAGGAAGT 0.388000 3 16 0 0 1 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151214973 151214973 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:151214973G>A ENST00000409426.1 + 13 1979 c.1534G>A c.(1534-1536)Gag>Aag p.E512K PIP5K1A_ENST00000414290.2_Intron|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.E484K|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.E462K|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.E524K Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 524 phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) GGAAATCAGTGAGGGCTCGCC 0.453000 53 149 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 3 12 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216279649 216279649 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:216279649C>G ENST00000354785.4 - 13 2221 c.1852G>C c.(1852-1854)Gag>Cag p.E618Q FN1_ENST00000432072.2_Missense_Mutation_p.E618Q|FN1_ENST00000357009.2_Missense_Mutation_p.E618Q|FN1_ENST00000426059.1_Missense_Mutation_p.E618Q|FN1_ENST00000359671.1_Missense_Mutation_p.E618Q|FN1_ENST00000346544.3_Missense_Mutation_p.E618Q|FN1_ENST00000345488.5_Missense_Mutation_p.E618Q|FN1_ENST00000323926.6_Missense_Mutation_p.E618Q|FN1_ENST00000357867.4_Missense_Mutation_p.E618Q|FN1_ENST00000446046.1_Missense_Mutation_p.E618Q|FN1_ENST00000443816.1_Missense_Mutation_p.E618Q|FN1_ENST00000421182.1_Missense_Mutation_p.E618Q|FN1_ENST00000356005.4_Missense_Mutation_p.E618Q|FN1_ENST00000336916.4_Missense_Mutation_p.E618Q P02751 FINC_HUMAN fibronectin 1 618 Fibronectin type-III 1. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCGGAGTCTCAGTGATAAAT 0.433000 10 39 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14806697 14806697 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:14806697G>T ENST00000380881.4 - 19 4054 c.3239C>A c.(3238-3240)tCt>tAt p.S1080Y FREM1_ENST00000422223.2_Missense_Mutation_p.S1079Y|FREM1_ENST00000380880.3_Missense_Mutation_p.S1079Y Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1079 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AAAACCCACAGAAGGGAGTAT 0.438000 3 14 0.004672 0.00476603 1 1 0 UNC5C 8633 broad.mit.edu 37 4 96171718 96171718 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:96171718G>C ENST00000453304.1 - 5 1043 c.695C>G c.(694-696)tCt>tGt p.S232C UNC5C_ENST00000506749.1_Missense_Mutation_p.S232C|UNC5C_ENST00000504962.1_Missense_Mutation_p.S232C NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 232 Ig-like C2-type. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TGCAGTATCAGAGAGTCGGGC 0.413000 58 94 0 0 1 0 0 RAB9BP1 9366 broad.mit.edu 37 5 104435325 104435325 + RNA SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:104435325G>A ENST00000522464.1 - 0 68 RP11-6N13.1_ENST00000503650.1_lincRNA AGATTTGGAAGTGGATGGACA 0.393000 11 21 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922370 24922370 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr15:24922370G>T ENST00000329468.2 + 1 1830 c.1356G>T c.(1354-1356)gaG>gaT p.E452D NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AAATGGATGAGAAAATAGCAT 0.488000 8 81 0.00307968 0.00315839 1 1 0 RHOBTB1 9886 broad.mit.edu 37 10 62670660 62670660 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:62670660C>T ENST00000337910.5 - 4 618 c.281G>A c.(280-282)cGc>cAc p.R94H RHOBTB1_ENST00000357917.4_Missense_Mutation_p.R94H NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 94 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) ATATGCAAAGCGTCTGTCTTT 0.443000 5 19 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 66878835 66878835 + Nonsense_Mutation SNP A A C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr13:66878835A>C ENST00000544246.1 - 5 4357 c.3666T>G c.(3664-3666)taT>taG p.Y1222* PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.Y1188*|PCDH9_ENST00000377865.2_Nonsense_Mutation_p.Y1222*|PCDH9_ENST00000456367.1_Nonsense_Mutation_p.Y1188* NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 1222 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) CTGCTTGCTTATAAGACTTCA 0.438000 5 38 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38338854 38338854 + Missense_Mutation SNP G G A rs145835462 byFrequency TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:38338854G>A ENST00000322350.5 + 3 608 c.262G>A c.(262-264)Gtg>Atg p.V88M EGFLAM_ENST00000354891.3_Missense_Mutation_p.V88M NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 88 Fibronectin type-III 1. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GTTGCACAGCGTGCCTCTCAG 0.557000 10 37 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131277156 131277156 + Nonsense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:131277156G>T ENST00000337057.3 - 2 651 c.470C>A c.(469-471)tCa>tAa p.S157* EPB41L2_ENST00000527659.1_Nonsense_Mutation_p.S157*|EPB41L2_ENST00000530481.1_Nonsense_Mutation_p.S157*|EPB41L2_ENST00000525193.1_Nonsense_Mutation_p.S157*|EPB41L2_ENST00000368128.2_Nonsense_Mutation_p.S157*|EPB41L2_ENST00000529208.1_Nonsense_Mutation_p.S157*|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000525271.1_Nonsense_Mutation_p.S157*|EPB41L2_ENST00000528282.1_Nonsense_Mutation_p.S157*|EPB41L2_ENST00000445890.2_Nonsense_Mutation_p.S157*|EPB41L2_ENST00000527411.1_Nonsense_Mutation_p.S157*|EPB41L2_ENST00000392427.3_Nonsense_Mutation_p.S157* NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 157 cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TTTGCTCACTGAGGGTTTTTC 0.403000 49 166 2.47907e-22 2.75039e-22 1 1 0 SREK1 140890 broad.mit.edu 37 5 65455156 65455156 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:65455156G>C ENST00000334121.6 + 3 564 c.405G>C c.(403-405)ttG>ttC p.L135F SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000380918.3_Missense_Mutation_p.L19F NM_001077199.2|NM_001270492.1 NP_001070667.1|NP_001257421.1 Q8WXA9 SREK1_HUMAN splicing regulatory glutamine/lysine-rich protein 1 19 RRM. mRNA processing|RNA splicing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1) 9 CAAATCCTTTGACTACTGTAA 0.438000 5 25 0 0 1 0 0 ZBTB32 27033 broad.mit.edu 37 19 36205943 36205943 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:36205943G>A ENST00000392197.2 + 3 733 c.415G>A c.(415-417)Gag>Aag p.E139K ZBTB32_ENST00000262630.3_Missense_Mutation_p.E139K Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 139 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGGAATCCTGAGAGAGAACT 0.547000 17 24 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24310715 24310715 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:24310715C>T ENST00000357002.4 + 4 2028 c.1913C>T c.(1912-1914)gCc>gTc p.A638V ZNF254_ENST00000342944.6_Missense_Mutation_p.A553V NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 638 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) TTTGGCAAAGCCTTTAATCGG 0.393000 13 101 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306843 2306843 + Silent SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:2306843C>A ENST00000290974.2 - 8 1563 c.1224G>T c.(1222-1224)ggG>ggT p.G408G ZFYVE28_ENST00000511071.1_Silent_p.G378G|ZFYVE28_ENST00000515312.1_Silent_p.G338G|RP11-478C1.7_ENST00000510632.1_RNA NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 408 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 CTTCTGCCGTCCCCTCCACGT 0.701000 18 40 4.96729e-08 5.25659e-08 1 1 0 PZP 5858 broad.mit.edu 37 12 9353018 9353018 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:9353018G>C ENST00000261336.2 - 7 725 c.697C>G c.(697-699)Cag>Gag p.Q233E PZP_ENST00000381997.2_Missense_Mutation_p.Q102E NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TTTGGCACCTGAACTTTGACC 0.318000 3 42 0 0 1 0 0 GPX7 2882 broad.mit.edu 37 1 53073984 53073984 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:53073984C>T ENST00000361314.4 + 3 489 c.451C>T c.(451-453)Cca>Tca p.P151S NM_015696.4 NP_056511.2 Q96SL4 GPX7_HUMAN glutathione peroxidase 7 151 response to oxidative stress extracellular region glutathione peroxidase activity breast(1)|kidney(1)|lung(4)|upper_aerodigestive_tract(1) 7 Glutathione(DB00143) CCTAGTAGCCCCAGATGGAAA 0.562000 23 43 0 0 1 0 0 SULT1B1 27284 broad.mit.edu 37 4 70615496 70615496 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:70615496C>T ENST00000310613.3 - 4 615 c.318G>A c.(316-318)gtG>gtA p.V106V NM_014465.3 NP_055280.2 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 1 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1) 24 GATGTGTTTTCACAATCCGGG 0.388000 15 45 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106116801 106116801 + Splice_Site SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:106116801C>G ENST00000357242.5 + 21 3143 c.2969C>G c.(2968-2970)tCt>tGt p.S990C TBC1D8B_ENST00000276175.3_Splice_Site_p.S984C NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 990 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GTCTTCTAGTCTCAGTTTATT 0.328000 15 50 0 0 1 0 0 PHKA2 5256 broad.mit.edu 37 X 18943857 18943857 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:18943857G>C ENST00000379942.4 - 15 2163 c.1498C>G c.(1498-1500)Cga>Gga p.R500G NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 500 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) CCAATATGTCGATACGGTCGC 0.408000 5 175 0 0 1 0 0 PRKCD 5580 broad.mit.edu 37 3 53220213 53220213 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:53220213G>C ENST00000394729.2 + 12 1445 c.1117G>C c.(1117-1119)Gag>Cag p.E373Q PRKCD_ENST00000330452.3_Missense_Mutation_p.E373Q NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 373 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GGGCAGAGGAGAGTACTTTGC 0.607000 8 17 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119726835 119726835 + Missense_Mutation SNP A A C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:119726835A>C ENST00000327097.4 + 2 332 c.197A>C c.(196-198)cAa>cCa p.Q66P MARCO_ENST00000541757.1_5'UTR NM_006770.3 NP_006761.1 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 66 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 CTGGTGGTCCAAGGTAAAGCA 0.607000 11 44 0 0 1 0 0 FAM71B 153745 broad.mit.edu 37 5 156593038 156593038 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:156593038C>G ENST00000302938.4 - 1 237 c.142G>C c.(142-144)Gag>Cag p.E48Q NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 48 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AAATTACTCTCGAACATTGGT 0.453000 37 40 0 0 1 0 0 LHB 3972 broad.mit.edu 37 19 49519550 49519550 + Silent SNP C C T rs149579838 by1000genomes TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:49519550C>T ENST00000221421.2 - 3 200 c.201G>A c.(199-201)gcG>gcA p.A67A NM_000894.2 NP_000885.1 P01229 LSHB_HUMAN luteinizing hormone beta polypeptide 67 cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction extracellular region|soluble fraction hormone activity cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Lutropin alfa(DB00044)|Menotropins(DB00032) GCGGCAGGACCGCCTGCAGCA 0.677000 7 86 0 0 1 0 0 TIMM44 10469 broad.mit.edu 37 19 8000015 8000015 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:8000015C>G ENST00000270538.3 - 4 596 c.328G>C c.(328-330)Gaa>Caa p.E110Q NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) 110 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity p.E110Q(1) NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 CGCACGGTTTCTGACTCGATG 0.552000 3 14 0 0 1 0 0 PFN2 5217 broad.mit.edu 37 3 149684286 149684286 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:149684286G>C ENST00000239940.7 - 3 665 c.413C>G c.(412-414)tCt>tGt p.S138C PFN2_ENST00000481275.1_Missense_Mutation_p.S89C|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000475518.1_Missense_Mutation_p.S89C|PFN2_ENST00000497148.1_Missense_Mutation_p.S89C|PFN2_ENST00000498307.1_Missense_Mutation_p.S89C|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000452853.2_Intron|PFN2_ENST00000489155.1_Missense_Mutation_p.S89C|PFN2_ENST00000481767.1_Intron|PFN2_ENST00000490975.1_Missense_Mutation_p.S123C P35080 PROF2_HUMAN profilin 2 138 actin cytoskeleton organization|regulation of actin polymerization or depolymerization actin cytoskeleton|cytoplasm actin binding|phosphatidylinositol-4,5-bisphosphate binding large_intestine(1)|lung(4)|ovary(1)|prostate(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CTAGAACCCAGAGTCTCTCAA 0.388000 46 255 0 0 1 0 0 PHKA2 5256 broad.mit.edu 37 X 18918793 18918793 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:18918793C>T ENST00000379942.4 - 28 3717 c.3052G>A c.(3052-3054)Gaa>Aaa p.E1018K NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 1018 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) GTCACCTGTTCATCAGCACTA 0.468000 11 42 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71729512 71729512 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:71729512G>A ENST00000393695.3 - 11 1121 c.790C>T c.(790-792)Ctg>Ttg p.L264L RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Silent_p.L264L|NUMA1_ENST00000358965.6_Silent_p.L264L NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 264 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 TTCTCATTCAGCAGGGCTAGG 0.582000 T RARA APL 5 22 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6186675 6186675 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:6186675G>A ENST00000262450.3 - 26 4134 c.4035C>T c.(4033-4035)atC>atT p.I1345I CHD5_ENST00000378021.1_Silent_p.I202I NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1345 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CCTGCTTGCGGATGCGCTTGC 0.667000 22 29 0 0 1 0 0 RAB1A 5861 broad.mit.edu 37 2 65331928 65331928 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:65331928G>C ENST00000409784.3 - 2 226 c.36C>G c.(34-36)ttC>ttG p.F12L RAB1A_ENST00000409751.1_Missense_Mutation_p.F12L|RAB1A_ENST00000356214.7_Missense_Mutation_p.F12L|RAB1A_ENST00000494188.1_5'UTR|RAB1A_ENST00000409892.1_Missense_Mutation_p.F12L|RAB1A_ENST00000260638.8_Missense_Mutation_p.F12L|RAB1A_ENST00000398529.3_Missense_Mutation_p.F12L NM_004161.4 NP_004152.1 P62820 RAB1A_HUMAN RAB1A, member RAS oncogene family 12 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum|Golgi apparatus GTP binding|GTPase activity endometrium(1)|kidney(1)|lung(3)|prostate(1) 6 GAAGTAACTTGAATAAATAAT 0.318000 3 16 0 0 1 0 0 DDX18 8886 broad.mit.edu 37 2 118586537 118586537 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:118586537G>A ENST00000263239.2 + 12 1776 c.1648G>A c.(1648-1650)Gaa>Aaa p.E550K NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 550 Helicase C-terminal. ATP binding|ATP-dependent RNA helicase activity|RNA binding p.E550K(1) breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TCCATTAAGTGAATTTGACTT 0.398000 11 67 0 0 1 0 0 FNDC3B 64778 broad.mit.edu 37 3 172096176 172096176 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:172096176C>T ENST00000336824.4 + 24 3224 c.3125C>T c.(3124-3126)tCa>tTa p.S1042L FNDC3B_ENST00000416957.1_Missense_Mutation_p.S1042L|FNDC3B_ENST00000415807.2_Missense_Mutation_p.S1042L NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 1042 Fibronectin type-III 8. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) GGGCCCTTCTCAGAAACCTAT 0.507000 4 39 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38534361 38534361 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr21:38534361C>T ENST00000399017.2 + 31 5913 c.3166C>T c.(3166-3168)Cat>Tat p.H1056Y TTC3_ENST00000355666.1_Missense_Mutation_p.H1056Y|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.H1056Y NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1056 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) AAGTGAAGACCATAGGTAAGT 0.264000 5 54 0 0 1 0 0 POLR3C 10623 broad.mit.edu 37 1 145609227 145609227 + Missense_Mutation SNP C C G rs150557296 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:145609227C>G ENST00000334163.3 - 2 270 c.110G>C c.(109-111)aGa>aCa p.R37T POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Missense_Mutation_p.R37T NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 37 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) GGCAATTACTCTTAGTGGCTG 0.393000 45 76 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129150108 129150108 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:129150108G>T ENST00000540052.1 + 3 3404 c.3360G>T c.(3358-3360)aaG>aaT p.K1120N BCORL1_ENST00000303743.5_Missense_Mutation_p.K1120N|BCORL1_ENST00000359304.2_Missense_Mutation_p.K1120N|BCORL1_ENST00000218147.7_Missense_Mutation_p.K1120N NM_021946.4 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1120 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 AGAAGATGAAGTGCGGCAAAG 0.562000 10 34 0.00621372 0.00633207 1 1 0 KIAA0226L 80183 broad.mit.edu 37 13 46942248 46942248 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr13:46942248G>C ENST00000429979.1 - 5 1359 c.755C>G c.(754-756)tCt>tGt p.S252C KIAA0226L_ENST00000389908.3_Missense_Mutation_p.S252C|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.S185C|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.S252C|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.S95C|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.S252C|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.S95C|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.S252C|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.S117C NM_025113.2 NP_079389.2 Q9H714 CM018_HUMAN KIAA0226-like 252 NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 AGTCATTTCAGAGTCAGGCTG 0.423000 48 70 0 0 1 0 0 MYO1G 64005 broad.mit.edu 37 7 45009687 45009687 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:45009687C>T ENST00000258787.7 - 10 1420 c.1284G>A c.(1282-1284)ctG>ctA p.L428L NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 428 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 GTTCCTGCTTCAGGATGAGCT 0.612000 4 20 0 0 1 0 0 ZSWIM1 90204 broad.mit.edu 37 20 44512264 44512264 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr20:44512264G>A ENST00000372523.1 + 2 1128 c.1033G>A c.(1033-1035)Gag>Aag p.E345K ZSWIM1_ENST00000372520.1_Missense_Mutation_p.E345K NM_080603.4 NP_542170.3 Q9BR11 ZSWM1_HUMAN zinc finger, SWIM-type containing 1 345 zinc ion binding breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 Myeloproliferative disorder(115;0.028) GTGCCTGGGCGAGCTTGCTGT 0.562000 27 79 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 936296 936296 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:936296C>G ENST00000537687.1 + 3 1664 c.1021C>G c.(1021-1023)Cga>Gga p.R341G WNK1_ENST00000535572.1_Missense_Mutation_p.R341G|WNK1_ENST00000315939.6_Missense_Mutation_p.R341G|WNK1_ENST00000530271.2_Missense_Mutation_p.R341G|WNK1_ENST00000447667.2_Missense_Mutation_p.R341G NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 341 Protein kinase. intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity p.R341G(2) breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TCTTCATACTCGAACTCCACC 0.438000 59 71 0 0 1 0 0 C1orf116 79098 broad.mit.edu 37 1 207196772 207196772 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:207196772C>G ENST00000359470.5 - 4 586 c.337G>C c.(337-339)Gag>Cag p.E113Q C1orf116_ENST00000461135.2_5'UTR NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 113 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) GAGCTGGACTCAGTTACTGTC 0.542000 4 36 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683527 100683527 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:100683527G>C ENST00000306151.4 + 3 8894 c.8830G>C c.(8830-8832)Gag>Cag p.E2944Q NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2944 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GGCCGGTTCTGAGGCTAGCAC 0.488000 35 170 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132504648 132504648 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:132504648C>A ENST00000333577.4 + 23 4549 c.4440C>A c.(4438-4440)ttC>ttA p.F1480L EP400_ENST00000332482.4_Missense_Mutation_p.F1407L|EP400_ENST00000330386.6_Missense_Mutation_p.F1444L|EP400_ENST00000389561.2_Missense_Mutation_p.F1444L|EP400_ENST00000389562.2_Missense_Mutation_p.F1443L Q96L91 EP400_HUMAN E1A binding protein p400 1480 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCGTGGCTTTCCCCAGCACTC 0.647000 19 47 2.4624e-09 2.62601e-09 1 1 0 KCNK13 56659 broad.mit.edu 37 14 90650876 90650876 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:90650876G>C ENST00000282146.4 + 2 1197 c.756G>C c.(754-756)gaG>gaC p.E252D NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 252 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) CCCACTATGAGAGCCAAGGCC 0.493000 11 44 0 0 1 0 0 TBCK 93627 broad.mit.edu 37 4 107168423 107168423 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:107168423C>T ENST00000273980.5 - 11 1251 c.804G>A c.(802-804)atG>atA p.M268I TBCK_ENST00000394706.3_Missense_Mutation_p.M229I|TBCK_ENST00000394708.2_Missense_Mutation_p.M268I|TBCK_ENST00000361687.4_Missense_Mutation_p.M205I|TBCK_ENST00000432496.2_Missense_Mutation_p.M268I Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase Protein kinase. intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 CTTTGTCCTTCATTAATTGAT 0.363000 8 35 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157505389 157505389 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:157505389G>A ENST00000346085.5 + 13 3371 c.3370G>A c.(3370-3372)Gag>Aag p.E1124K ARID1B_ENST00000367148.1_Missense_Mutation_p.E1164K|ARID1B_ENST00000275248.4_Missense_Mutation_p.E1106K|ARID1B_ENST00000350026.5_Missense_Mutation_p.E1111K NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1111 ARID. chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GAAGTGGCGTGAGCTGGCAAC 0.443000 32 43 0 0 1 0 0 TLR10 81793 broad.mit.edu 37 4 38776398 38776398 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:38776398C>G ENST00000308973.4 - 4 1419 c.814G>C c.(814-816)Gaa>Caa p.E272Q TLR10_ENST00000508334.1_Missense_Mutation_p.E272Q|TLR10_ENST00000361424.2_Missense_Mutation_p.E272Q|TLR10_ENST00000506111.1_Missense_Mutation_p.E272Q NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 272 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 TGAAAGTGTTCCACTGATGTA 0.343000 13 49 0 0 1 0 0 MOAP1 64112 broad.mit.edu 37 14 93650053 93650053 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:93650053C>T ENST00000556883.1 - 2 1019 c.535G>A c.(535-537)Gaa>Aaa p.E179K MOAP1_ENST00000298894.4_Missense_Mutation_p.E179K Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 179 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 13 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) ccaaattcttcttctcctggt 0.502000 6 37 0 0 1 0 0 ETV6 2120 broad.mit.edu 37 12 11992227 11992227 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:11992227C>G ENST00000396373.4 + 3 591 c.317C>G c.(316-318)tCt>tGt p.S106C NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 106 PNT. cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.Y104fs*14(1) ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CGCTATCGATCTCCTCATTCA 0.463000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 21 35 0 0 1 0 0 NLGN3 54413 broad.mit.edu 37 X 70367745 70367745 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:70367745G>A ENST00000374051.3 + 2 468 c.146G>A c.(145-147)gGg>gAg p.G49E NLGN3_ENST00000358741.3_Missense_Mutation_p.G49E|NLGN3_ENST00000536169.1_Missense_Mutation_p.G49E NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 49 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) ACTCACTTTGGGAAGCTAAGG 0.637000 3 12 0 0 1 0 0 TBC1D23 55773 broad.mit.edu 37 3 100013994 100013994 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:100013994C>T ENST00000394144.4 + 6 671 c.664C>T c.(664-666)Cta>Tta p.L222L TBC1D23_ENST00000344949.5_Silent_p.L222L|TBC1D23_ENST00000475134.1_Silent_p.L85L|TBC1D23_ENST00000486274.1_3'UTR NM_001199198.2 NP_001186127.1 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 222 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2) 25 GGATGGATATCTACAACAAGC 0.328000 35 50 0 0 1 0 0 TMEM81 388730 broad.mit.edu 37 1 205052985 205052985 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:205052985G>C ENST00000367167.3 - 1 660 c.464C>G c.(463-465)tCt>tGt p.S155C NM_203376.1 NP_976310.1 Q6P7N7 TMM81_HUMAN transmembrane protein 81 155 Ig-like. integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 9 all_cancers(21;0.144)|Breast(84;0.0437) BRCA - Breast invasive adenocarcinoma(75;0.0923) ATATGTCCCAGAGTCATACTC 0.463000 25 51 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126735363 126735363 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:126735363G>A ENST00000251772.4 + 15 3018 c.2949G>A c.(2947-2949)agG>agA p.R983R PLXNA1_ENST00000393409.2_Silent_p.R1006R Q9UIW2 PLXA1_HUMAN plexin A1 1006 IPT/TIG 2. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CCTCCAGGAGGAACTCCCGTG 0.642000 5 31 0 0 1 0 0 FAAH2 158584 broad.mit.edu 37 X 57515266 57515266 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:57515266C>G ENST00000374900.4 + 11 1620 c.1500C>G c.(1498-1500)atC>atG p.I500M FAAH2_ENST00000491179.1_3'UTR NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 500 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 CTTTAGGCATCCAGGTTGTGG 0.502000 HNSCC(52;0.14) 13 26 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22183587 22183587 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:22183587C>G ENST00000374695.3 - 44 5575 c.5496G>C c.(5494-5496)ctG>ctC p.L1832L NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 1832 Ig-like C2-type 3. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CTGCATCACTCAGCTGGACGT 0.582000 56 68 0 0 1 0 0 UBAC2 337867 broad.mit.edu 37 13 99853753 99853753 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr13:99853753C>T ENST00000376440.2 + 1 591 c.88C>T c.(88-90)Cgt>Tgt p.R30C UBAC2_ENST00000403766.3_Intron NM_177967.3 NP_808882.1 Q8NBM4 UBAC2_HUMAN UBA domain containing 2 0 integral to membrane breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2) 10 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GTTAGGAAGTCGTGGCGAGGG 0.493000 OREG0022482 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 33 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32146636 32146636 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:32146636G>A ENST00000373672.3 - 38 3087 c.2571C>T c.(2569-2571)ctC>ctT p.L857L COL16A1_ENST00000271069.6_Silent_p.L856L|COL16A1_ENST00000373668.3_Silent_p.L857L NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 857 Triple-helical region 5 (COL5) with 3 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GTGTTCCTCTGAGTCCCGTCT 0.627000 10 16 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397652 125397652 + Silent SNP T T C rs146795524 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:125397652T>C ENST00000536769.1 - 1 2242 c.666A>G c.(664-666)gtA>gtG p.V222V UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.V146V P0CG48 UBC_HUMAN ubiquitin C 222 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGAGACGGAGTACCAGGTGCA 0.512000 4 73 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70470559 70470559 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:70470559C>G ENST00000373998.1 - 5 1493 c.796G>C c.(796-798)Gat>Cat p.D266H ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Missense_Mutation_p.D268H|ZMYM3_ENST00000314425.5_Missense_Mutation_p.D266H|ZMYM3_ENST00000373984.3_Missense_Mutation_p.D268H|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000353904.2_Missense_Mutation_p.D266H|ZMYM3_ENST00000373988.1_Missense_Mutation_p.D268H|ZMYM3_ENST00000373981.1_Missense_Mutation_p.D266H NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 266 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) GCATCAGAATCCTCATCTGAC 0.547000 4 13 0 0 1 0 0 CHRDL1 91851 broad.mit.edu 37 X 109919569 109919569 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:109919569C>T ENST00000218054.4 - 12 1457 c.1261G>A c.(1261-1263)Gaa>Aaa p.E421K CHRDL1_ENST00000372045.1_Missense_Mutation_p.E415K|CHRDL1_ENST00000394797.4_Missense_Mutation_p.E421K|CHRDL1_ENST00000444321.2_Missense_Mutation_p.E422K|CHRDL1_ENST00000434224.1_Missense_Mutation_p.E342K|CHRDL1_ENST00000482160.1_Missense_Mutation_p.E343K|CHRDL1_ENST00000372042.1_Missense_Mutation_p.E423K NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 415 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 GCTTCTCCTTCGGTGAAGATC 0.453000 15 37 0 0 1 0 0 PACSIN3 29763 broad.mit.edu 37 11 47202146 47202146 + Nonsense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:47202146G>A ENST00000539589.1 - 5 649 c.307C>T c.(307-309)Caa>Taa p.Q103* PACSIN3_ENST00000298838.6_Nonsense_Mutation_p.Q103* NM_001184975.1 NP_001171904.1 Q9UKS6 PACN3_HUMAN protein kinase C and casein kinase substrate in neurons 3 103 endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis cytoplasm|plasma membrane cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5) 11 TCCTGCCCTTGCAGCTTCTCC 0.706000 18 29 0 0 1 0 0 KCNC2 3747 broad.mit.edu 37 12 75444196 75444196 + Missense_Mutation SNP T T C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:75444196T>C ENST00000549446.1 - 3 2269 c.1589A>G c.(1588-1590)aAt>aGt p.N530S KCNC2_ENST00000550433.1_Missense_Mutation_p.N530S|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000298972.1_Missense_Mutation_p.N530S|KCNC2_ENST00000548513.1_Missense_Mutation_p.N530S|KCNC2_ENST00000540018.1_Missense_Mutation_p.N530S|KCNC2_ENST00000350228.2_Missense_Mutation_p.N530S|KCNC2_ENST00000393288.2_Missense_Mutation_p.N530S|KCNC2_ENST00000341669.3_Missense_Mutation_p.N530S NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 530 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 CAGAAGTCGATTGTCTTTGCC 0.423000 19 87 0 0 1 0 0 KIF5A 3798 broad.mit.edu 37 12 57961297 57961297 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:57961297C>G ENST00000455537.2 + 8 884 c.610C>G c.(610-612)Cgg>Ggg p.R204G KIF5A_ENST00000286452.5_Missense_Mutation_p.R115G NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 204 Kinesin-motor.|Microtubule-binding. R -> Q (in SPG10; complicated form). blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 ACACAGCTCTCGGAGCCACAG 0.567000 13 13 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149509070 149509070 + RNA SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:149509070C>T ENST00000378016.2 + 0 9616 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCGGTGCCATCGGCACCGGTT 0.697000 9 38 0 0 1 0 0 C22orf29 79680 broad.mit.edu 37 22 19839740 19839740 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:19839740G>C ENST00000405640.1 - 2 713 c.45C>G c.(43-45)atC>atG p.I15M C22orf29_ENST00000328554.4_Missense_Mutation_p.I15M|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.I15M|GNB1L_ENST00000405009.1_Intron|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000460402.1_Intron Q7L3V2 CV029_HUMAN chromosome 22 open reading frame 29 15 p.I15I(1) NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 7 Colorectal(54;0.0993) CGGCTGCCCAGATGGGAATGC 0.637000 29 44 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81302621 81302621 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:81302621G>C ENST00000555265.1 - 12 1360 c.985C>G c.(985-987)Caa>Gaa p.Q329E CEP128_ENST00000281129.3_Missense_Mutation_p.Q329E|CEP128_ENST00000216517.6_Missense_Mutation_p.Q329E Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 329 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 TGAGATACTTGATGCTGTAAA 0.393000 25 68 0 0 1 0 0 ATP4B 496 broad.mit.edu 37 13 114303727 114303727 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr13:114303727C>G ENST00000335288.4 - 7 879 c.838G>C c.(838-840)Gaa>Caa p.E280Q NM_000705.3 NP_000696.1 P51164 ATP4B_HUMAN ATPase, H+/K+ exchanging, beta polypeptide 280 ATP biosynthetic process integral to membrane|plasma membrane hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839) all cancers(43;0.171) Rabeprazole(DB01129) ACTTTCCCTTCATACGGGTCG 0.587000 3 10 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159284232 159284232 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:159284232C>T ENST00000332217.5 - 1 217 c.218G>A c.(217-219)tGc>tAc p.C73Y NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) CACAGTGTAGCAGGTCTCAGA 0.488000 11 89 0 0 1 0 0 USP46 64854 broad.mit.edu 37 4 53476749 53476749 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:53476749G>A ENST00000441222.3 - 5 780 c.596C>T c.(595-597)tCt>tTt p.S199F USP46_ENST00000508499.1_Missense_Mutation_p.S192F|USP46_ENST00000451218.2_Missense_Mutation_p.S172F NM_022832.3 NP_073743.2 P62068 UBP46_HUMAN ubiquitin specific peptidase 46 behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2) 12 LUSC - Lung squamous cell carcinoma(32;0.0295) CACATCAACAGAAAGGTCAAG 0.358000 4 32 0 0 1 0 0 TMEFF2 23671 broad.mit.edu 37 2 193044353 193044353 + Nonsense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:193044353C>T ENST00000409056.3 - 4 479 c.480G>A c.(478-480)tgG>tgA p.W160* TMEFF2_ENST00000392314.1_Intron|TMEFF2_ENST00000272771.5_Intron Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 0 extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) ATAATAATATCCACCAGTAAA 0.313000 8 42 0 0 1 0 0 ROCK2 9475 broad.mit.edu 37 2 11426712 11426712 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:11426712C>T ENST00000315872.6 - 3 725 c.277G>A c.(277-279)Gat>Aat p.D93N ROCK2_ENST00000462366.1_5'UTR NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 93 Protein kinase. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TTTACAACATCATAGTCTTCT 0.318000 26 110 0 0 1 0 0 GPR101 83550 broad.mit.edu 37 X 136113687 136113687 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:136113687G>A ENST00000298110.1 - 1 146 c.147C>T c.(145-147)aaC>aaT p.N49N NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 49 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) CCAGCACTATGTTGCCGACGA 0.582000 25 79 0 0 1 0 0 ZNF584 201514 broad.mit.edu 37 19 58928190 58928190 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:58928190G>A ENST00000306910.4 + 4 828 c.305G>A c.(304-306)aGa>aAa p.R102K ZNF584_ENST00000322834.7_Missense_Mutation_p.E135K|ZNF584_ENST00000593920.1_Missense_Mutation_p.R57K|ZNF584_ENST00000596921.1_3'UTR|ZNF584_ENST00000599238.1_3'UTR NM_173548.1 NP_775819.1 Q8IVC4 ZN584_HUMAN zinc finger protein 584 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271) GGTTTGTGTAGAGTGGAGGAT 0.483000 4 29 0 0 1 0 0 PCNA 5111 broad.mit.edu 37 20 5096165 5096165 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr20:5096165C>T ENST00000379160.3 - 6 878 c.636G>A c.(634-636)ctG>ctA p.L212L PCNA_ENST00000379143.5_Silent_p.L212L NM_002592.2 NP_002583.1 P12004 PCNA_HUMAN proliferating cell nuclear antigen 212 cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(2) 9 TAAAGAAGTTCAGGTACCTCA 0.368000 DNA polymerases (catalytic subunits) 16 98 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14812908 14812908 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:14812908C>G ENST00000380881.4 - 17 3613 c.2798G>C c.(2797-2799)cGc>cCc p.R933P FREM1_ENST00000422223.2_Missense_Mutation_p.R932P|FREM1_ENST00000380880.3_Missense_Mutation_p.R932P Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 932 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CTGAGGTTCGCGAGCAATCAC 0.478000 7 116 0 0 1 0 0 FABP1 2168 broad.mit.edu 37 2 88424061 88424061 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:88424061G>C ENST00000393750.3 - 3 316 c.285C>G c.(283-285)ttC>ttG p.F95L FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Missense_Mutation_p.F95L P07148 FABPL_HUMAN fatty acid binding protein 1, liver 95 organ morphogenesis kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 6 TGATGTTTTTGAAAGTTGTCA 0.527000 15 117 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205041086 205041086 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:205041086G>C ENST00000331830.4 + 20 2840 c.2556G>C c.(2554-2556)tgG>tgC p.W852C NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 852 Fibronectin type-III 3. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TCCGCTACTGGAAAGCTGGGG 0.617000 7 14 0 0 1 0 0 SOS1 6654 broad.mit.edu 37 2 39249918 39249918 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:39249918C>T ENST00000426016.1 - 11 1737 c.1651G>A c.(1651-1653)Gaa>Aaa p.E551K SOS1_ENST00000395038.2_Missense_Mutation_p.E551K|SOS1_ENST00000402219.2_Missense_Mutation_p.E551K Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 551 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) AGCATCCTTTCCAGTGTACTC 0.398000 Noonan syndrome 46 62 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10639261 10639261 + Silent SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr20:10639261G>T ENST00000254958.5 - 4 1064 c.549C>A c.(547-549)atC>atA p.I183I JAG1_ENST00000423891.2_Silent_p.I24I NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 183 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 AGGTCACGCGGATCTGATACT 0.522000 Alagille Syndrome 8 69 0.00448238 0.00458718 1 1 0 TLE1 7088 broad.mit.edu 37 9 84205815 84205815 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:84205815G>A ENST00000376499.3 - 16 2798 c.1734C>T c.(1732-1734)taC>taT p.Y578Y NM_005077.3 NP_005068.2 Q04724 TLE1_HUMAN transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) 578 negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 TGGCCAGGGCGTAGCAGGCGG 0.617000 15 61 0 0 1 0 0 FANCG 2189 broad.mit.edu 37 9 35077035 35077035 + Nonsense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:35077035G>C ENST00000378643.3 - 6 1201 c.710C>G c.(709-711)tCa>tGa p.S237* NM_004629.1 NP_004620.1 O15287 FANCG_HUMAN Fanconi anemia, complementation group G 237 cell cycle checkpoint|DNA repair|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1) 28 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ACACAGGCCTGAGGCCGCTTC 0.572000 """Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks 24 35 0 0 1 0 0 HPX 3263 broad.mit.edu 37 11 6461461 6461461 + Nonsense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:6461461C>T ENST00000265983.3 - 4 370 c.270G>A c.(268-270)tgG>tgA p.W90* HPX_ENST00000525057.1_5'UTR NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 90 Hemopexin-like 1. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) GGAAATTCTTCCATCTCTCTG 0.512000 18 46 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13923877 13923877 + Missense_Mutation SNP A A T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:13923877A>T ENST00000254323.2 + 6 1268 c.1079A>T c.(1078-1080)cAg>cTg p.Q360L ZSWIM4_ENST00000440752.2_Missense_Mutation_p.Q77L NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 360 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GGCTGGCTCCAGCTACTCAGC 0.657000 4 24 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154396459 154396459 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:154396459C>G ENST00000435029.4 + 1 3200 c.3040C>G c.(3040-3042)Cca>Gca p.P1014A NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1014 Globular (By similarity).|Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CCTTCTATCTCCAGACTCTTC 0.413000 31 41 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107564714 107564714 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:107564714G>C ENST00000393561.1 - 31 5441 c.5257C>G c.(5257-5259)Ctt>Gtt p.L1753V LAMB1_ENST00000222399.6_Missense_Mutation_p.L1729V P07942 LAMB1_HUMAN laminin, beta 1 1729 Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGAGCTAAAAGAGTTTTTGCT 0.333000 39 87 0 0 1 0 0 SLC52A2 79581 broad.mit.edu 37 8 145582986 145582986 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:145582986G>A ENST00000532887.1 + 2 616 c.33G>A c.(31-33)ctG>ctA p.L11L SLC52A2_ENST00000527078.1_Silent_p.L11L|SLC52A2_ENST00000526752.1_Silent_p.L11L|SLC52A2_ENST00000526891.1_Intron|SLC52A2_ENST00000530047.1_Silent_p.L11L|SLC52A2_ENST00000402965.1_Silent_p.L11L|SLC52A2_ENST00000540505.1_Intron|SLC52A2_ENST00000329994.2_Silent_p.L11L Q9HAB3 RFT3_HUMAN solute carrier family 52 (riboflavin transporter), member 2 11 integral to plasma membrane receptor activity|riboflavin transporter activity GTCCGGTGCTGACCCACCTGC 0.642000 10 21 0 0 1 0 0 ZNF675 171392 broad.mit.edu 37 19 23844937 23844937 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:23844937C>T ENST00000359788.4 - 3 373 c.205G>A c.(205-207)Gag>Aag p.E69K ZNF675_ENST00000600313.1_Missense_Mutation_p.E69K|ZNF675_ENST00000599168.1_Missense_Mutation_p.E69K|ZNF675_ENST00000601010.1_Missense_Mutation_p.E69K|ZNF675_ENST00000596211.1_Missense_Mutation_p.E69K|ZNF675_ENST00000601935.1_Missense_Mutation_p.E69K NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 69 KRAB. bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TTCACCATCTCATGTCTCTTC 0.398000 15 76 0 0 1 0 0 OCRL 4952 broad.mit.edu 37 X 128710427 128710427 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:128710427C>T ENST00000371113.4 + 18 2178 c.2013C>T c.(2011-2013)atC>atT p.I671I OCRL_ENST00000357121.5_Silent_p.I671I NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 671 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3) 48 TCTTGACTATCAGTGGAAATT 0.433000 30 54 0 0 1 0 0 ZRANB3 84083 broad.mit.edu 37 2 136261993 136261993 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:136261993C>G ENST00000401392.1 - 2 279 c.67G>C c.(67-69)Gat>Cat p.D23H ZRANB3_ENST00000536680.1_Missense_Mutation_p.D23H|ZRANB3_ENST00000264159.6_Missense_Mutation_p.D23H Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 23 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) AGCAGATTATCAGATTCATTT 0.368000 10 36 0 0 1 0 0 TRAV13-2 28670 broad.mit.edu 37 14 22386865 22386865 + RNA SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:22386865C>A ENST00000390439.2 + 0 344 GACAGTGAAACATCTCTCTCT 0.413000 5 20 0.000602214 0.000620913 1 1 0 OR5D14 219436 broad.mit.edu 37 11 55563880 55563880 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:55563880C>T ENST00000335605.1 + 1 849 c.849C>T c.(847-849)gtC>gtT p.V283V NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) ACACAGTTGTCAACCCCATGC 0.433000 11 56 0 0 1 0 0 ACPT 93650 broad.mit.edu 37 19 51298100 51298100 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:51298100C>G ENST00000270593.1 + 10 1044 c.1044C>G c.(1042-1044)ctC>ctG p.L348L ACPT_ENST00000270594.3_Silent_p.L255L NM_033068.2 NP_149059.1 Q9BZG2 PPAT_HUMAN acid phosphatase, testicular 348 integral to membrane acid phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3) 11 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CCCTGCCTCTCAGCCTCCCCG 0.677000 44 143 0 0 1 0 0 INF2 64423 broad.mit.edu 37 14 105178831 105178831 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:105178831G>A ENST00000392634.4 + 17 2663 c.2551G>A c.(2551-2553)Gag>Aag p.E851K INF2_ENST00000330634.7_Missense_Mutation_p.E851K NM_022489.3 NP_071934.3 Q27J81 INF2_HUMAN inverted formin, FH2 and WH2 domain containing 851 FH2. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) TCTGGAGACCGAGCGGAAGGT 0.652000 6 25 0 0 1 0 0 IL16 3603 broad.mit.edu 37 15 81592368 81592368 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr15:81592368G>A ENST00000394660.2 + 14 3061 c.2701G>A c.(2701-2703)Gag>Aag p.E901K IL16_ENST00000560230.1_3'UTR|IL16_ENST00000302987.4_Missense_Mutation_p.E901K|IL16_ENST00000394652.2_Missense_Mutation_p.E200K NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 901 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 CCAGCAGCCTGAGCAAGTACT 0.627000 10 35 0 0 1 0 0 IDI2 91734 broad.mit.edu 37 10 1070588 1070588 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:1070588C>T ENST00000277517.1 - 2 140 c.76G>A c.(76-78)Gag>Aag p.E26K IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000434470.1_RNA NM_033261.2 NP_150286.1 Q9BXS1 IDI2_HUMAN isopentenyl-diphosphate delta isomerase 2 26 carotenoid biosynthetic process|cholesterol biosynthetic process cytosol|peroxisome hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.143) Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192) TTATCATTCTCATCCACAACA 0.493000 13 58 0 0 1 0 0 PPP2R1B 5519 broad.mit.edu 37 11 111608256 111608256 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:111608256C>T ENST00000311129.5 - 15 1847 c.1827G>A c.(1825-1827)gtG>gtA p.V609V PPP2R1B_ENST00000426998.2_Silent_p.V545V NM_181699.2 NP_859050.1 P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta 0 protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2) 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) CACTGTCCTTCACAGGAAATT 0.577000 14 44 0 0 1 0 0 CLP1 10978 broad.mit.edu 37 11 57426958 57426958 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:57426958G>A ENST00000533682.1 + 2 735 c.10G>A c.(10-12)Gag>Aag p.E4K CLP1_ENST00000529430.1_Missense_Mutation_p.E15K|CLP1_ENST00000302731.4_Missense_Mutation_p.E4K|CLP1_ENST00000525602.1_Missense_Mutation_p.E4K Q92989 CLP1_HUMAN cleavage and polyadenylation factor I subunit 1 4 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1) 15 GATGGGAGAAGAGGCTAATGA 0.413000 4 34 0 0 1 0 0 HERC3 8916 broad.mit.edu 37 4 89599246 89599246 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:89599246G>C ENST00000402738.1 + 19 2396 c.2157G>C c.(2155-2157)ctG>ctC p.L719L HERC3_ENST00000543130.1_Silent_p.L163L|HERC3_ENST00000264345.3_Silent_p.L719L NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 719 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) TAAGAGAGCTGAGCATTCATT 0.453000 17 56 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155783560 155783560 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:155783560G>A ENST00000437809.1 - 10 1439 c.1317C>T c.(1315-1317)atC>atT p.I439I GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Silent_p.I439I|GON4L_ENST00000361040.5_Silent_p.I439I|GON4L_ENST00000271883.5_Silent_p.I439I NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 439 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CCTCAGCACTGATGTGCCTGA 0.488000 15 46 0 0 1 0 0 ENTPD3 956 broad.mit.edu 37 3 40464485 40464485 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:40464485G>C ENST00000301825.3 + 8 1094 c.976G>C c.(976-978)Gaa>Caa p.E326Q ENTPD3_ENST00000456402.1_Missense_Mutation_p.E326Q|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.E326Q|ENTPD3-AS1_ENST00000439293.1_RNA NM_001248.2 NP_001239.2 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 3 326 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) CATCACTTTTGAAGGAACTGG 0.448000 23 61 0 0 1 0 0 BCAT2 587 broad.mit.edu 37 19 49303531 49303531 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:49303531G>C ENST00000402551.1 - 5 824 c.204C>G c.(202-204)ttC>ttG p.F68L BCAT2_ENST00000599246.1_Missense_Mutation_p.F16L|BCAT2_ENST00000545387.2_Missense_Mutation_p.F16L|BCAT2_ENST00000597011.1_Missense_Mutation_p.F68L|BCAT2_ENST00000316273.6_Missense_Mutation_p.F108L|BCAT2_ENST00000598162.1_Missense_Mutation_p.F108L NM_001284325.1 NP_001271254.1 O15382 BCAT2_HUMAN branched chain amino-acid transaminase 2, mitochondrial 108 mitochondrial matrix L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 12 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224) L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114) CTTTGCCTTTGAACGCCTTCA 0.627000 10 39 0 0 1 0 0 PPP1R21 129285 broad.mit.edu 37 2 48685295 48685295 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:48685295C>G ENST00000294952.8 + 4 461 c.304C>G c.(304-306)Caa>Gaa p.Q102E PPP1R21_ENST00000281394.4_Missense_Mutation_p.Q102E|PPP1R21_ENST00000449090.2_Missense_Mutation_p.Q102E NM_001135629.2 NP_001129101.1 Q6ZMI0 KLRAQ_HUMAN protein phosphatase 1, regulatory subunit 21 102 endometrium(2)|kidney(4)|lung(9) 15 TCAGTTGAGTCAAGAGCAGAA 0.348000 14 132 0 0 1 0 0 KCNAB3 9196 broad.mit.edu 37 17 7829275 7829275 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:7829275G>C ENST00000303790.2 - 6 467 c.468C>G c.(466-468)atC>atG p.I156M RP11-1099M24.7_ENST00000573621.1_3'UTR NM_004732.3 NP_004723.2 O43448 KCAB3_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 3 156 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 8 Prostate(122;0.157) TCTTGGTAGTGATGACATAGC 0.488000 49 43 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25887151 25887151 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:25887151G>A ENST00000376351.3 + 11 2955 c.2596G>A c.(2596-2598)Gag>Aag p.E866K GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 866 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 AGAAGACAGCGAGGCTGAGTC 0.498000 10 64 0 0 1 0 0 SPICE1 152185 broad.mit.edu 37 3 113218358 113218358 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:113218358C>G ENST00000295872.4 - 4 478 c.219G>C c.(217-219)ttG>ttC p.L73F NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 73 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 ATTTTCTCTTCAAAGCTTTTT 0.358000 4 30 0 0 1 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11859511 11859511 + Nonsense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:11859511G>C ENST00000396516.2 - 13 1750 c.1553C>G c.(1552-1554)tCa>tGa p.S518* ZC3H7A_ENST00000355758.4_Nonsense_Mutation_p.S518* Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 518 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 GCAGTGGCCTGAATATCTACA 0.502000 11 30 0 0 1 0 0 DIMT1 27292 broad.mit.edu 37 5 61688797 61688797 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:61688797C>T ENST00000199320.4 - 9 844 c.684G>A c.(682-684)agG>agA p.R228R DIMT1_ENST00000506390.1_Silent_p.R228R|KIF2A_ENST00000509663.2_Intron NM_014473.2 NP_055288.1 Q9UNQ2 DIMT1_HUMAN DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae) 228 nucleolus RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity CAAAGGTTATCCTTACTAGAC 0.343000 11 53 0 0 1 0 0 TUBA3E 112714 broad.mit.edu 37 2 130952744 130952744 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:130952744C>T ENST00000312988.7 - 3 383 c.283G>A c.(283-285)Ggg>Agg p.G95R NM_207312.2 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 95 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) TCTTCCTTCCCGGTGATCAGC 0.522000 9 96 0 0 1 0 0 APLP2 334 broad.mit.edu 37 11 129991605 129991605 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:129991605C>G ENST00000263574.5 + 5 685 c.613C>G c.(613-615)Cag>Gag p.Q205E APLP2_ENST00000345598.5_Intron|APLP2_ENST00000338167.5_Missense_Mutation_p.Q205E|APLP2_ENST00000528499.1_Missense_Mutation_p.Q205E|APLP2_ENST00000539648.1_Missense_Mutation_p.Q49E|APLP2_ENST00000278756.7_Missense_Mutation_p.Q215E|APLP2_ENST00000543137.1_Missense_Mutation_p.Q112E NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 205 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) GTGCTGCCCTCAGACAAAGAT 0.443000 26 144 0 0 1 0 0 DNAJC22 79962 broad.mit.edu 37 12 49743189 49743189 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:49743189C>T ENST00000549441.2 + 3 1738 c.534C>T c.(532-534)ctC>ctT p.L178L DNAJC22_ENST00000395069.3_Silent_p.L178L Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 178 protein folding integral to membrane heat shock protein binding|unfolded protein binding p.L178L(2) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1) 10 CAGAGCCGCTCAGTGTGCGGC 0.587000 16 53 0 0 1 0 0 PTPN6 5777 broad.mit.edu 37 12 7060782 7060782 + Nonsense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:7060782C>T ENST00000456013.1 + 2 261 c.19C>T c.(19-21)Cga>Tga p.R7* PTPN6_ENST00000447931.2_Intron|PTPN6_ENST00000318974.9_Nonsense_Mutation_p.R7*|PTPN6_ENST00000399448.1_Nonsense_Mutation_p.R9* NM_080549.3 NP_536859.1 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 7 SH2 1. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3) 18 GTGGTTTCACCGAGACCTCAG 0.662000 8 45 0 0 1 0 0 TRMT112 51504 broad.mit.edu 37 11 64084438 64084438 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:64084438C>T ENST00000544844.1 - 4 830 c.273G>A c.(271-273)gtG>gtA p.V91V TRMT112_ENST00000535750.1_Silent_p.V47V|TRMT112_ENST00000535126.1_3'UTR|TRMT112_ENST00000539854.1_3'UTR|TRMT112_ENST00000308774.2_Silent_p.V86V Q9UI30 TR112_HUMAN tRNA methyltransferase 11-2 homolog (S. cerevisiae) 91 TRM112. peptidyl-glutamine methylation protein complex protein binding|protein methyltransferase activity large_intestine(1)|upper_aerodigestive_tract(1) 2 CTATCACTTCCACCTGCGGGC 0.627000 14 39 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17089552 17089552 + Missense_Mutation SNP A A C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:17089552A>C ENST00000377833.4 - 23 3255 c.3190T>G c.(3190-3192)Ttc>Gtc p.F1064V NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1064 CUB 6. 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) TTATTGGGGAAGTTTGGAGAA 0.403000 6 58 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24488161 24488161 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:24488161C>T ENST00000264463.4 - 12 2485 c.1978G>A c.(1978-1980)Gag>Aag p.E660K CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 660 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CCACCACCCTCATCGTTATAG 0.453000 HNSCC(23;0.051) 21 114 0 0 1 0 0 SYT4 6860 broad.mit.edu 37 18 40853974 40853974 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr18:40853974C>T ENST00000255224.3 - 2 788 c.420G>A c.(418-420)aaG>aaA p.K140K SYT4_ENST00000590752.1_Silent_p.K122K|SYT4_ENST00000586678.1_Intron NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 140 cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 AAGTGCTGGACTTTAAACTCT 0.433000 5 41 0 0 1 0 0 SLC24A3 57419 broad.mit.edu 37 20 19665975 19665975 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr20:19665975G>C ENST00000328041.6 + 12 1491 c.1294G>C c.(1294-1296)Gaa>Caa p.E432Q NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 432 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 ggatgatgatgaagGACCGTA 0.507000 8 50 0 0 1 0 0 SGOL2 151246 broad.mit.edu 37 2 201437404 201437404 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:201437404G>T ENST00000357799.4 + 7 2433 c.2335G>T c.(2335-2337)Gat>Tat p.D779Y 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) 779 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 AAACCTGTATGATTCTGAGAT 0.378000 25 37 1.42536e-11 1.53537e-11 1 1 0 PRDM7 11105 broad.mit.edu 37 16 90128810 90128810 + Splice_Site SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:90128810G>A ENST00000449207.2 - 6 628 c.609C>T c.(607-609)ctC>ctT p.L203L PRDM7_ENST00000407825.1_5'UTR NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 203 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) GTCACTCACAGAGGTAGTCAT 0.448000 22 85 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554439 140554439 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:140554439G>C ENST00000231137.3 + 1 2197 c.2023G>C c.(2023-2025)Gag>Cag p.E675Q NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 675 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGGCTCCCGGAGGCGGCCCC 0.692000 26 173 0 0 1 0 0 IGKV2-30 28919 broad.mit.edu 37 2 89544435 89544435 + RNA SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:89544435C>T ENST00000468494.1 - 0 218 GGCCTGGCCTCTGCTGAAACC 0.542000 14 131 0 0 1 0 0 CDCA2 157313 broad.mit.edu 37 8 25323728 25323728 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:25323728G>T ENST00000330560.3 + 5 902 c.425G>T c.(424-426)aGa>aTa p.R142I CDCA2_ENST00000380665.3_Missense_Mutation_p.R127I NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 142 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) AACACTTTAAGAGAACGAATA 0.403000 8 22 0.0381472 0.0384265 1 1 0 TEAD4 7004 broad.mit.edu 37 12 3104133 3104133 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:3104133C>T ENST00000359864.2 + 3 391 c.201C>T c.(199-201)atC>atT p.I67I TEAD4_ENST00000397122.2_Intron|TEAD4_ENST00000358409.2_Silent_p.I67I NM_003213.3 NP_003204 Q15561 TEAD4_HUMAN TEA domain family member 4 67 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) GCAAAATCATCCTGTCGGACG 0.612000 7 74 0 0 1 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36279015 36279015 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:36279015C>G ENST00000007510.4 + 21 3692 c.3548C>G c.(3547-3549)tCt>tGt p.S1183C ARHGAP33_ENST00000378944.5_Missense_Mutation_p.S1019C|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.S1022C O14559 RHG33_HUMAN Rho GTPase activating protein 33 1183 Poly-Ser. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 TCACCTGCCTCTTCCTCCTCC 0.687000 12 43 0 0 1 0 0 CASC3 22794 broad.mit.edu 37 17 38320215 38320215 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:38320215G>A ENST00000264645.7 + 7 1493 c.1267G>A c.(1267-1269)Gag>Aag p.E423K NM_007359.4 NP_031385.2 O15234 CASC3_HUMAN cancer susceptibility candidate 3 423 Necessary for localization in cytoplasmic stress granules. mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm identical protein binding|RNA binding|ubiquitin protein ligase binding endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 16 GCTTGCAGAGGAGGTGCCCCC 0.562000 17 28 0 0 1 0 0 SLC1A4 6509 broad.mit.edu 37 2 65243799 65243799 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:65243799C>T ENST00000234256.3 + 5 1269 c.1026C>T c.(1024-1026)acC>acT p.T342T SLC1A4_ENST00000531327.1_Intron NM_003038.4 NP_003029.2 P43007 SATT_HUMAN solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 342 cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1) 13 L-Alanine(DB00160) CATTTGCTACCTGCTCCAGGT 0.488000 29 28 0 0 1 0 0 APC2 10297 broad.mit.edu 37 19 1466484 1466484 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:1466484G>C ENST00000535453.1 + 14 4897 c.3184G>C c.(3184-3186)Gag>Cag p.E1062Q APC2_ENST00000233607.2_Missense_Mutation_p.E1062Q|C19orf25_ENST00000588427.1_Intron|APC2_ENST00000238483.4_Missense_Mutation_p.E788Q O95996 APC2_HUMAN adenomatosis polyposis coli 2 1062 5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1. negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 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)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGGCGCAAGAGGGGCCACT 0.687000 9 10 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24802090 24802090 + Nonsense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:24802090C>T ENST00000310677.4 - 3 377 c.264G>A c.(262-264)tgG>tgA p.W88* ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000558563.1_5'UTR|RP11-934B9.3_ENST00000555591.1_Missense_Mutation_p.D155N|ADCY4_ENST00000554068.2_Nonsense_Mutation_p.W88*|ADCY4_ENST00000418030.2_Nonsense_Mutation_p.W88* NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 88 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) GGGGACGCGTCCAGCGCTGCA 0.692000 OREG0022624 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 13 0 0 1 0 0 NCAPH 23397 broad.mit.edu 37 2 97019974 97019974 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:97019974C>T ENST00000455200.1 + 9 1318 c.1023C>T c.(1021-1023)atC>atT p.I341I NCAPH_ENST00000240423.4_Silent_p.I352I|NCAPH_ENST00000427946.1_Silent_p.I216I Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 352 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(717;0.0221) TATTTGACATCAATGCTGAAG 0.502000 18 138 0 0 1 0 0 MRPS31 10240 broad.mit.edu 37 13 41340884 41340884 + Silent SNP C C T rs35441585 byFrequency TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr13:41340884C>T ENST00000323563.6 - 2 474 c.438G>A c.(436-438)aaG>aaA p.K146K NM_005830.3 NP_005821.2 Q92665 RT31_HUMAN mitochondrial ribosomal protein S31 146 mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) AAATTTACCTCTTCTTTGGAG 0.338000 13 19 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55339744 55339744 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:55339744C>G ENST00000314634.3 + 1 141 c.141C>G c.(139-141)gtC>gtG p.V47V NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TTATTAGTGTCAAGACCAGCC 0.378000 43 101 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262889 45262889 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:45262889G>T ENST00000303230.4 - 8 1864 c.1807C>A c.(1807-1809)Caa>Aaa p.Q603K NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 603 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGGAACTTTTGCAGAAGAATT 0.433000 12 64 7.03913e-09 7.49025e-09 1 1 0 IGKJ4 28947 broad.mit.edu 37 2 89160422 89160422 + RNA SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:89160422C>T ENST00000452230.1 - 0 39 AC096579.7_ENST00000430694.1_RNA|IGKJ4_ENST00000390239.2_RNA TTGGTCCCTCCGCCGAAAGTG 0.418000 34 32 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101608942 101608942 + Silent SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:101608942G>T ENST00000311812.2 - 10 1053 c.903C>A c.(901-903)atC>atA p.I301I SNX31_ENST00000428383.2_Silent_p.I202I NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 301 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) CAGGCAGGGTGATGCAGCAGC 0.512000 38 41 2.6416e-12 2.85506e-12 1 1 0 CLECL1 160365 broad.mit.edu 37 12 9885610 9885610 + Missense_Mutation SNP A A G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:9885610A>G ENST00000327839.3 - 1 285 c.251T>C c.(250-252)gTc>gCc p.V84A NM_172004.3 NP_742001.1 Q8IZS7 CLCL1_HUMAN C-type lectin-like 1 84 integral to membrane|plasma membrane sugar binding breast(1)|kidney(1)|large_intestine(4)|lung(3) 9 GTCAGCGTAGACTACATCTCC 0.428000 11 52 0 0 1 0 0 ABCC5 10057 broad.mit.edu 37 3 183696419 183696419 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:183696419G>A ENST00000334444.6 - 9 1408 c.1168C>T c.(1168-1170)Cgg>Tgg p.R390W ABCC5_ENST00000265586.6_Missense_Mutation_p.R390W|ABCC5_ENST00000492216.1_5'UTR NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 390 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCCAATATCCGACGCTCCTCC 0.473000 17 47 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29608223 29608223 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:29608223C>G ENST00000318184.5 - 20 2395 c.2396G>C c.(2395-2397)aGa>aCa p.R799T OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 799 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) GATCATCACTCTGGCAAATAC 0.423000 17 52 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38990358 38990358 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:38990358G>A ENST00000355481.4 + 44 7242 c.7111G>A c.(7111-7113)Gag>Aag p.E2371K RYR1_ENST00000360985.3_Missense_Mutation_p.E2371K|RYR1_ENST00000359596.3_Missense_Mutation_p.E2371K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2371 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCTGCGGGGTGAGGGTGGCTC 0.701000 7 6 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110476838 110476838 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:110476838G>A ENST00000378402.5 + 49 7881 c.7777G>A c.(7777-7779)Gat>Aat p.D2593N NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2593 immune response cytosol|extracellular space|integral to membrane receptor activity p.D2595H(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CAACCACCCTGATGGGCCATC 0.453000 HNSCC(38;0.096) 13 46 0 0 1 0 0 STK32B 55351 broad.mit.edu 37 4 5332959 5332959 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:5332959G>A ENST00000282908.5 + 4 695 c.273G>A c.(271-273)caG>caA p.Q91Q STK32B_ENST00000512636.1_Silent_p.Q44Q|STK32B_ENST00000510398.1_Silent_p.Q44Q NM_018401.1 NP_060871.1 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 91 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 ACTCCTTCCAGGATGAGGAGG 0.532000 14 36 0 0 1 0 0 LRRC57 255252 broad.mit.edu 37 15 42840305 42840305 + Splice_Site SNP C C A rs150825131 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr15:42840305C>A ENST00000323443.2 - 2 589 c.222G>T c.(220-222)ctG>ctT p.L74L LRRC57_ENST00000563454.1_Splice_Site_p.L74L|LRRC57_ENST00000397130.3_Splice_Site_p.L74L Q8N9N7 LRC57_HUMAN leucine rich repeat containing 57 74 breast(1)|kidney(1)|lung(5)|prostate(1) 8 all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262) GBM - Glioblastoma multiforme(94;6.87e-07) GAGCCATACTCAGTTTGTTGT 0.468000 12 38 7.93312e-07 8.33107e-07 1 1 0 DDX19B 11269 broad.mit.edu 37 16 70349884 70349884 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:70349884C>T ENST00000288071.6 + 4 418 c.173C>T c.(172-174)gCc>gTc p.A58V DDX19B_ENST00000393657.2_5'UTR|RP11-529K1.3_ENST00000567706.1_Missense_Mutation_p.A58V|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000355992.3_Missense_Mutation_p.A58V|DDX19B_ENST00000563206.1_Missense_Mutation_p.A63V|DDX19B_ENST00000570055.1_3'UTR|DDX19B_ENST00000568625.1_5'UTR|DDX19B_ENST00000563392.1_5'UTR|DDX19B_ENST00000451014.3_Missense_Mutation_p.A63V NM_007242.5 NP_009173.1 Q9UMR2 DD19B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B 58 mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|protein binding|RNA binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) GACAGAGCTGCCCAGTCCTTA 0.433000 42 123 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16327614 16327614 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:16327614C>T ENST00000244769.4 - 8 1864 c.928G>A c.(928-930)Gag>Aag p.E310K ATXN1_ENST00000436367.1_Missense_Mutation_p.E310K NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 310 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) CGGCTGCTCTCAGCTTTCTTG 0.672000 8 51 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5664925 5664925 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:5664925C>T ENST00000310917.2 - 9 1545 c.814G>A c.(814-816)Gat>Aat p.D272N EVC2_ENST00000344408.5_Missense_Mutation_p.D352N|EVC2_ENST00000344938.1_Missense_Mutation_p.D352N NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 352 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 TTCACGCCATCAGCTGAGGTG 0.463000 23 54 0 0 1 0 0 DDR1 780 broad.mit.edu 37 6 30863264 30863264 + Missense_Mutation SNP G G A rs138565451 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:30863264G>A ENST00000324771.8 + 14 2145 c.1597G>A c.(1597-1599)Gcc>Acc p.A533T DDR1_ENST00000446312.1_Intron|DDR1_ENST00000376575.3_Missense_Mutation_p.A533T|DDR1_ENST00000376567.2_Intron|DDR1_ENST00000452441.1_Missense_Mutation_p.A533T|DDR1_ENST00000376569.3_Intron|DDR1_ENST00000361741.4_Silent_p.P236P|DDR1_ENST00000513240.1_Missense_Mutation_p.A533T|DDR1_ENST00000418800.2_Intron|DDR1_ENST00000376570.4_Intron|DDR1_ENST00000454612.2_Intron|DDR1_ENST00000508312.1_Intron|DDR1_ENST00000376568.3_Missense_Mutation_p.A533T Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 533 Gly/Pro-rich. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) CCCCACACCCGCCTGGGCCAA 0.682000 24 68 0 0 1 0 0 TSKU 25987 broad.mit.edu 37 11 76507390 76507390 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:76507390G>A ENST00000527881.1 + 2 1756 c.730G>A c.(730-732)Gag>Aag p.E244K TSKU_ENST00000333090.4_Missense_Mutation_p.E244K Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 244 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GAGGCTCCCTGAGCTGGCGCC 0.647000 30 77 0 0 1 0 0 ZBP1 81030 broad.mit.edu 37 20 56179691 56179691 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr20:56179691C>G ENST00000340462.4 - 7 1439 c.1159G>C c.(1159-1161)Gaa>Caa p.E387Q ZBP1_ENST00000371173.3_Missense_Mutation_p.E410Q|ZBP1_ENST00000395822.3_Missense_Mutation_p.E335Q Q9H171 ZBP1_HUMAN Z-DNA binding protein 1 410 cytoplasm|nucleus double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) TGGCTGCCTTCTGCAGCTTTG 0.577000 21 38 0 0 1 0 0 TXN2 25828 broad.mit.edu 37 22 36872861 36872861 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:36872861C>G ENST00000216185.2 - 3 772 c.306G>C c.(304-306)aaG>aaC p.K102N TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.K102N|TXN2_ENST00000487725.1_5'UTR Q99757 THIOM_HUMAN thioredoxin 2 102 Thioredoxin. cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport mitochondrion|nucleolus electron carrier activity breast(1)|lung(1)|prostate(1) 3 TGGCCACCATCTTCTCTAACC 0.542000 11 73 0 0 1 0 0 PRB1 5542 broad.mit.edu 37 12 11506247 11506247 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:11506247G>A ENST00000500254.2 - 4 428 c.391C>T c.(391-393)Ccc>Tcc p.P131S PRB1_ENST00000545626.1_Missense_Mutation_p.P111S|PRB1_ENST00000546254.1_Missense_Mutation_p.P131S NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 325 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5). extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) CCTTGTGCGGGTGGTCCTTGT 0.602000 24 113 0 0 1 0 0 TBCD 6904 broad.mit.edu 37 17 80890597 80890597 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:80890597C>G ENST00000355528.4 + 34 3307 c.3177C>G c.(3175-3177)ttC>ttG p.F1059L TBCD_ENST00000539345.2_Missense_Mutation_p.F1059L NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 1059 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) TCGACATCTTCACCACGGAGG 0.532000 11 47 0 0 1 0 0 KANK4 163782 broad.mit.edu 37 1 62728893 62728893 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:62728893C>T ENST00000371153.4 - 7 2788 c.2410G>A c.(2410-2412)Gag>Aag p.E804K KANK4_ENST00000317477.4_5'UTR|KANK4_ENST00000371150.1_Missense_Mutation_p.E160K|KANK4_ENST00000354381.3_Missense_Mutation_p.E176K NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 804 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GGCTGGACCTCGTGGAGGTAG 0.587000 7 20 0 0 1 0 0 EFNA4 1945 broad.mit.edu 37 1 155039418 155039418 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:155039418C>T ENST00000368409.3 + 2 419 c.326C>T c.(325-327)tCa>tTa p.S109L EFNA3_ENST00000556931.1_Intron|EFNA3_ENST00000505139.1_Intron|EFNA4_ENST00000427683.2_Missense_Mutation_p.S109L|EFNA4_ENST00000359751.4_Missense_Mutation_p.S109L NM_005227.2 NP_005218.1 ephrin-A4 breast(1)|endometrium(1)|large_intestine(1)|ovary(1) 4 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GTTCAATTCTCAGAGAAGATT 0.567000 27 86 0 0 1 0 0 ZNF155 7711 broad.mit.edu 37 19 44501429 44501429 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:44501429C>T ENST00000270014.2 + 5 1548 c.1420C>T c.(1420-1422)Cat>Tat p.H474Y ZNF155_ENST00000407951.2_Missense_Mutation_p.H485Y|ZNF155_ENST00000590615.1_Missense_Mutation_p.H474Y|RP11-15A1.7_ENST00000589021.1_RNA|RP11-15A1.7_ENST00000586860.1_RNA NM_001260487.1|NM_198089.2 NP_001247416|NP_932355 Q12901 ZN155_HUMAN zinc finger protein 155 474 H -> R (in a colorectal cancer sample; somatic mutation). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 15 Prostate(69;0.0352) TATTTTGAATCATAAGAGACT 0.448000 54 88 0 0 1 0 0 MEP1A 4224 broad.mit.edu 37 6 46801206 46801206 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:46801206G>A ENST00000230588.4 + 11 1549 c.1540G>A c.(1540-1542)Gag>Aag p.E514K NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 514 MATH. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) CCTTGACCAGGAGCCTGATGT 0.507000 19 101 0 0 1 0 0 TOP3B 8940 broad.mit.edu 37 22 22317255 22317255 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:22317255C>T ENST00000398793.2 - 12 1649 c.1215G>A c.(1213-1215)gcG>gcA p.A405A TOP3B_ENST00000357179.5_Silent_p.A405A|TOP3B_ENST00000413067.2_Silent_p.A134A NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 405 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) AGAGCCGCCACGCGTCACCCC 0.622000 8 33 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51174590 51174590 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:51174590C>G ENST00000440970.1 - 2 1683 c.1252G>C c.(1252-1254)Gag>Cag p.E418Q SALL1_ENST00000251020.4_Missense_Mutation_p.E515Q|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 515 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TCCAAATGCTCAGGCACAGGA 0.522000 19 47 0 0 1 0 0 NUP214 8021 broad.mit.edu 37 9 134027165 134027165 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:134027165G>C ENST00000359428.5 + 17 2464 c.2320G>C c.(2320-2322)Gag>Cag p.E774Q RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.E775Q|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.E764Q P35658 NU214_HUMAN nucleoporin 214kDa 774 11 X 5 AA approximate repeats. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) AACTTTACTTGAGGGCTTTGC 0.383000 T """DEK, SET, ABL1""" """AML, T-ALL""" 18 52 0 0 1 0 0 FAM214A 56204 broad.mit.edu 37 15 52903368 52903368 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr15:52903368C>T ENST00000261844.7 - 5 641 c.489G>A c.(487-489)ctG>ctA p.L163L FAM214A_ENST00000546305.2_Silent_p.L170L NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 163 GAGAAACACTCAGCCATGCAC 0.428000 19 40 0 0 1 0 0 REXO4 57109 broad.mit.edu 37 9 136279826 136279826 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:136279826C>A ENST00000371942.3 - 2 730 c.531G>T c.(529-531)aaG>aaT p.K177N ADAMTS13_ENST00000485925.1_Intron|REXO4_ENST00000371935.2_Missense_Mutation_p.R118I|REXO4_ENST00000478037.1_5'UTR NM_020385.2 NP_065118.2 Q9GZR2 REXO4_HUMAN REX4, RNA exonuclease 4 homolog (S. cerevisiae) 177 nucleolus exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05) CTTTCCGCTTCTTATGCTCGA 0.542000 16 50 0.0285812 0.0288811 1 1 0 TRAV26-2 28656 broad.mit.edu 37 14 22671077 22671077 + RNA SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:22671077G>C ENST00000390460.1 + 0 142 CAGTGGAACTGATTACATACA 0.453000 9 24 0 0 1 0 0 MPL 4352 broad.mit.edu 37 1 43805747 43805747 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:43805747C>G ENST00000372470.3 + 5 845 c.803C>G c.(802-804)tCc>tGc p.S268C MPL_ENST00000413998.2_Missense_Mutation_p.S268C NM_005373.2 NP_005364.1 P40238 TPOR_HUMAN myeloproliferative leukemia virus oncogene 268 cell proliferation|platelet activation integral to plasma membrane cytokine receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 567 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTCGGTGGCTCCTGGGGATCC 0.577000 Mis MPD MPD congenital amegakaryocytic thrombocytopenia 3 16 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23692861 23692861 + Missense_Mutation SNP G G C rs138657080 by1000genomes TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:23692861G>C ENST00000397312.2 - 7 1048 c.774C>G c.(772-774)gaC>gaG p.D258E ELAVL2_ENST00000544538.1_Missense_Mutation_p.D258E|ELAVL2_ENST00000380110.4_Missense_Mutation_p.D288E|ELAVL2_ENST00000223951.6_Missense_Mutation_p.D245E|ELAVL2_ENST00000380117.1_Missense_Mutation_p.D258E NM_004432.3 NP_004423.2 Q12926 ELAV2_HUMAN ELAV like neuron-specific RNA binding protein 2 258 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TGGTCATTCCGTCAATGGTCA 0.423000 3 37 0 0 1 0 0 PIPOX 51268 broad.mit.edu 37 17 27370262 27370262 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:27370262C>A ENST00000323372.4 + 1 345 c.19C>A c.(19-21)Ctc>Atc p.L7I PIPOX_ENST00000583215.1_Intron NM_016518.2 NP_057602.2 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 7 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) TCAGAAAGATCTCTGGGACGC 0.582000 9 38 0.00448238 0.00458718 1 1 0 FAM208B 54906 broad.mit.edu 37 10 5790587 5790587 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:5790587G>C ENST00000328090.5 + 15 5828 c.5203G>C c.(5203-5205)Gat>Cat p.D1735H NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1735 CACGCTGCAAGATGTGTCAAC 0.483000 25 21 0 0 1 0 0 ST13 6767 broad.mit.edu 37 22 41228587 41228587 + Nonsense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:41228587C>A ENST00000216218.3 - 8 1148 c.667G>T c.(667-669)Gaa>Taa p.E223* NM_003932.3 NP_003923.2 P50502 F10A1_HUMAN suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 223 protein binding, bridging cervix(1)|large_intestine(1)|lung(3)|skin(1) 6 GGTTGAACTTCTTTCAGCATT 0.433000 5 37 0.014758 0.0149599 1 1 0 NRAP 4892 broad.mit.edu 37 10 115405671 115405671 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:115405671C>T ENST00000369358.4 - 11 1267 c.1023G>A c.(1021-1023)atG>atA p.M341I NRAP_ENST00000360478.3_Missense_Mutation_p.M341I|NRAP_ENST00000369360.3_Missense_Mutation_p.M341I|NRAP_ENST00000359988.3_Missense_Mutation_p.M341I Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 341 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CAGCGCCTTTCATCTTATTGA 0.458000 25 44 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99312292 99312292 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:99312292G>T ENST00000336374.2 - 8 686 c.684C>A c.(682-684)ttC>ttA p.F228L NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 228 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) TTGGGGTAAGGAATGGAAAGA 0.318000 16 51 5.03518e-11 5.40567e-11 1 1 0 ANKAR 150709 broad.mit.edu 37 2 190611323 190611323 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:190611323G>A ENST00000520309.1 + 23 4363 c.4275G>A c.(4273-4275)caG>caA p.Q1425Q ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000313581.4_Silent_p.Q1425Q|ANKAR_ENST00000431575.2_Silent_p.Q1354Q NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1425 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) AACATGTCCAGAAAGCCAACC 0.313000 22 27 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73477919 73477919 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:73477919C>G ENST00000377110.3 - 3 610 c.367G>C c.(367-369)Gaa>Caa p.E123Q TRPM3_ENST00000377097.3_5'UTR|TRPM3_ENST00000423814.3_Missense_Mutation_p.E125Q|TRPM3_ENST00000360823.2_5'UTR|TRPM3_ENST00000377106.1_5'UTR|TRPM3_ENST00000396283.1_5'UTR|TRPM3_ENST00000377111.2_Missense_Mutation_p.E123Q|TRPM3_ENST00000361823.5_5'UTR|TRPM3_ENST00000357533.2_Missense_Mutation_p.E125Q|TRPM3_ENST00000377101.1_5'UTR|TRPM3_ENST00000437699.3_5'UTR|TRPM3_ENST00000377105.1_5'UTR Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GACCACTTTTCAGACTGGATG 0.502000 14 35 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47898429 47898429 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:47898429G>C ENST00000289672.2 - 27 4254 c.4204C>G c.(4204-4206)Caa>Gaa p.Q1402E NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1402 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AACTGGCCTTGAGCAAGGAGT 0.488000 6 37 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114276415 114276415 + Missense_Mutation SNP C C T rs143469039 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:114276415C>T ENST00000357077.4 + 38 6694 c.6641C>T c.(6640-6642)cCg>cTg p.P2214L ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2181L|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2181 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GCCGGCTCTCCGTGTGGCAGC 0.512000 9 35 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29120968 29120968 + Missense_Mutation SNP T T G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:29120968T>G ENST00000382580.2 - 5 793 c.718A>C c.(718-720)Aaa>Caa p.K240Q CHEK2_ENST00000328354.6_Missense_Mutation_p.K197Q|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K197Q|CHEK2_ENST00000404276.1_Missense_Mutation_p.K197Q|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000382566.1_Missense_Mutation_p.K197Q|CHEK2_ENST00000348295.3_Missense_Mutation_p.K197Q|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.K197Q NM_001005735.1 NP_001005735.1 O96017 CHK2_HUMAN checkpoint kinase 2 197 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 ATATTACCTTTATTTCTGCTT 0.353000 F breast Direct reversal of damage;Other conserved DNA damage response genes 18 24 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93557924 93557924 + Splice_Site SNP A A T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr15:93557924A>T ENST00000394196.4 + 37 5760 c.e37-1 CHD2_ENST00000557381.1_Splice_Site NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TTTACTCTTTAGGAGCAAAAG 0.473000 9 30 0 0 1 0 0 SNX31 169166 broad.mit.edu 37 8 101601189 101601189 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:101601189C>T ENST00000311812.2 - 11 1147 c.997G>A c.(997-999)Gat>Aat p.D333N SNX31_ENST00000428383.2_Missense_Mutation_p.D234N|SNX31_ENST00000519521.1_5'UTR NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 333 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) TGGGGCCCATCCGTATCCAGC 0.423000 26 34 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65914842 65914842 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:65914842G>A ENST00000321892.4 + 14 5755 c.5694G>A c.(5692-5694)caG>caA p.Q1898Q BPTF_ENST00000424123.3_Silent_p.Q1759Q|BPTF_ENST00000306378.6_Silent_p.Q1772Q|BPTF_ENST00000335221.5_Silent_p.Q1898Q Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1898 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding p.Q1898H(1)|p.Q1772H(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) ATAGACTTCAGACAGTAAAGT 0.423000 17 70 0 0 1 0 0 TEX11 56159 broad.mit.edu 37 X 69871318 69871318 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:69871318C>G ENST00000395889.2 - 18 1665 c.1510G>C c.(1510-1512)Gag>Cag p.E504Q TEX11_ENST00000344304.3_Missense_Mutation_p.E504Q|TEX11_ENST00000374320.2_Missense_Mutation_p.E179Q|TEX11_ENST00000374333.2_Missense_Mutation_p.E489Q NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 504 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) GAGTTGCCCTCTATGACTGCA 0.358000 13 17 0 0 1 0 0 RPL7 6129 broad.mit.edu 37 8 74204023 74204023 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:74204023G>A ENST00000396467.1 - 4 431 c.293C>T c.(292-294)cCa>cTa p.P98L RPL7_ENST00000352983.2_Missense_Mutation_p.P138L|RPL7_ENST00000396465.1_Missense_Mutation_p.P98L|RPL7_ENST00000396466.1_Missense_Mutation_p.P98L NM_000971.3 NP_000962.2 P18124 RL7_HUMAN ribosomal protein L7 138 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome breast(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(64;0.0954) Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134) TGCAATATATGGCTCTACAAT 0.388000 17 87 0 0 1 0 0 ZCCHC13 389874 broad.mit.edu 37 X 73524385 73524385 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:73524385G>C ENST00000339534.2 + 1 361 c.284G>C c.(283-285)gGc>gCc p.G95A NM_203303.2 NP_976048.1 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 95 nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 8 TATACCTGCGGCAGACTAGGA 0.517000 10 36 0 0 1 0 0 TRMT12 55039 broad.mit.edu 37 8 125463496 125463496 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:125463496G>C ENST00000328599.3 + 1 449 c.328G>C c.(328-330)Gag>Cag p.E110Q TRMT12_ENST00000521443.1_3'UTR NM_017956.3 NP_060426.2 Q53H54 TYW2_HUMAN tRNA methyltransferase 12 homolog (S. cerevisiae) 110 tRNA processing methyltransferase activity breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) ATTGTGTCTTGAGGTGAGTCG 0.577000 24 36 0 0 1 0 0 HIST1H4L 8368 broad.mit.edu 37 6 27840978 27840978 + Nonstop_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:27840978C>G ENST00000355981.2 - 1 311 c.311G>C c.(310-312)tGa>tCa p.*104S NM_003546.2 NP_003537.1 P62805 H4_HUMAN histone cluster 1, H4l 0 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 13 GTAAAACACTCAGCCGCCAAA 0.512000 11 24 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 4 47 0 0 1 0 0 PALMD 54873 broad.mit.edu 37 1 100155161 100155161 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:100155161G>A ENST00000263174.4 + 7 1720 c.1345G>A c.(1345-1347)Gat>Aat p.D449N PALMD_ENST00000605497.1_Missense_Mutation_p.D449N NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 449 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) TGTGATTGATGATGAGGAGGA 0.493000 8 40 0 0 1 0 0 C2orf80 389073 broad.mit.edu 37 2 209045482 209045482 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:209045482G>A ENST00000341287.4 - 6 548 c.353C>T c.(352-354)tCt>tTt p.S118F C2orf80_ENST00000453017.1_Missense_Mutation_p.S118F|C2orf80_ENST00000451346.1_Missense_Mutation_p.S99F NM_001099334.2 NP_001092804 Q0P641 CB080_HUMAN chromosome 2 open reading frame 80 118 endometrium(2)|large_intestine(3)|lung(6)|skin(2) 13 GATGGTACCAGAATCGGCAGA 0.343000 19 52 0 0 1 0 0 RAB33A 9363 broad.mit.edu 37 X 129318670 129318670 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:129318670G>C ENST00000257017.4 + 2 1084 c.670G>C c.(670-672)Gag>Cag p.E224Q NM_004794.2 NP_004785.1 Q14088 RB33A_HUMAN RAB33A, member RAS oncogene family 224 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5) 11 GCAGAAACTGGAGTTCCCACA 0.443000 12 29 0 0 1 0 0 GDPD4 220032 broad.mit.edu 37 11 76944218 76944218 + Splice_Site SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:76944218C>G ENST00000315938.4 - 13 1492 c.e13-1 GDPD4_ENST00000376217.2_Splice_Site NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 TTTATAATCTCTGGAACAAAA 0.428000 13 53 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67147569 67147569 + Missense_Mutation SNP A A G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:67147569A>G ENST00000371037.4 + 15 909 c.832A>G c.(832-834)Aca>Gca p.T278A SGIP1_ENST00000237247.6_Missense_Mutation_p.T282A|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371035.3_Intron NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 278 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 CCAGTCAGCCACAGAGGTCAA 0.403000 7 138 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108684645 108684645 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:108684645G>A ENST00000218006.2 - 7 1927 c.1636C>T c.(1636-1638)Ctc>Ttc p.L546F NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 546 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 GAAAAGGAGAGTCTTGGGGAC 0.433000 5 196 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263103 248263103 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:248263103G>A ENST00000366478.2 + 3 763 c.426G>A c.(424-426)aaG>aaA p.K142K OR2L13_ENST00000358120.2_Silent_p.K142K NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 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;0.0132) TGTGTGTGAAGATGATTGGAG 0.488000 64 135 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38824093 38824093 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:38824093C>T ENST00000303592.3 - 2 303 c.45G>A c.(43-45)cgG>cgA p.R15R NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 15 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) TGCGGCGCTTCCGCCGGGGCA 0.642000 41 207 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38457532 38457532 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:38457532G>A ENST00000356264.2 - 17 1506 c.1291C>T c.(1291-1293)Cca>Tca p.P431S AMPH_ENST00000325590.5_Intron|AMPH_ENST00000471913.1_Intron|AMPH_ENST00000428293.2_Intron NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 431 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 TCTGTGGGTGGAGCCTGTTCA 0.488000 17 61 0 0 1 0 0 MAPK15 225689 broad.mit.edu 37 8 144803408 144803408 + Missense_Mutation SNP T T C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:144803408T>C ENST00000338033.4 + 11 1150 c.1031T>C c.(1030-1032)cTg>cCg p.L344P NM_139021.2 NP_620590.2 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 344 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CAGATGATCCTGGAGTGTGGA 0.647000 11 50 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962016 73962016 + Nonsense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:73962016G>T ENST00000055682.6 - 3 2987 c.2376C>A c.(2374-2376)tgC>tgA p.C792* NM_001008537.2 NP_001008537.1 Q5QGS0 K2022_HUMAN KIAA2022 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TTTCAGAAGAGCATGTCGTTG 0.408000 25 85 2.49675e-24 2.77962e-24 1 1 0 ARHGAP33 115703 broad.mit.edu 37 19 36279068 36279068 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:36279068C>A ENST00000007510.4 + 21 3745 c.3601C>A c.(3601-3603)Ccc>Acc p.P1201T ARHGAP33_ENST00000378944.5_Missense_Mutation_p.P1037T|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.P1040T O14559 RHG33_HUMAN Rho GTPase activating protein 33 1201 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 AGATCCCGGTCCCCCAGTCCC 0.682000 11 39 2.27111e-07 2.39287e-07 1 1 0 EIF2AK3 9451 broad.mit.edu 37 2 88890561 88890561 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:88890561G>C ENST00000303236.3 - 5 1078 c.777C>G c.(775-777)ttC>ttG p.F259L EIF2AK3_ENST00000419748.1_Missense_Mutation_p.F108L NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 259 activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 GGCCAACACTGAAATTCCACC 0.348000 30 38 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17708559 17708559 + RNA SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:17708559G>C ENST00000434762.2 + 0 701 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AGGAAGAGTCGAAGAAGGCGA 0.522000 23 54 0 0 1 0 0 ZNF44 51710 broad.mit.edu 37 19 12384228 12384228 + Missense_Mutation SNP T T C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:12384228T>C ENST00000356109.5 - 5 1104 c.986A>G c.(985-987)tAc>tGc p.Y329C ZNF44_ENST00000355684.5_Missense_Mutation_p.Y281C NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) TTTACATTTGTAGGGTTTCTC 0.413000 42 112 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29592300 29592300 + Silent SNP A A G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:29592300A>G ENST00000318184.5 - 26 3224 c.3225T>C c.(3223-3225)ttT>ttC p.F1075F OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 1075 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) atgtgttaataaaattcagtt 0.318000 15 16 0 0 1 0 0 RNF168 165918 broad.mit.edu 37 3 196198865 196198865 + Nonsense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:196198865G>C ENST00000318037.3 - 6 2135 c.1541C>G c.(1540-1542)tCa>tGa p.S514* NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 514 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) TTTGTCCCTTGAGCCTCTCTC 0.423000 138 174 0 0 1 0 0 FTSJ3 117246 broad.mit.edu 37 17 61904001 61904001 + Silent SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:61904001G>T ENST00000427159.2 - 3 744 c.99C>A c.(97-99)atC>atA p.I33I NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 33 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GATTGAGCTGGATCAGCTTGA 0.562000 5 14 0.0215528 0.0218018 1 1 0 DOCK9 23348 broad.mit.edu 37 13 99498236 99498236 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr13:99498236C>G ENST00000376460.1 - 38 4151 c.4071G>C c.(4069-4071)atG>atC p.M1357I DOCK9_ENST00000339416.2_Missense_Mutation_p.M1358I|DOCK9_ENST00000448493.2_Missense_Mutation_p.D1382H NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1358 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGGCATGCATCATTCCTGTTC 0.493000 6 10 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73047089 73047089 + RNA SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:73047089C>A ENST00000604411.1 + 0 35050 XIST_ENST00000429829.1_lincRNA NR_003255.2 CTGCACCTATCAGGCAGGGGT 0.488000 31 112 2.68265e-12 2.89618e-12 1 1 0 ZNF436 80818 broad.mit.edu 37 1 23688594 23688594 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:23688594G>A ENST00000314011.4 - 4 1417 c.1281C>T c.(1279-1281)ttC>ttT p.F427F ZNF436_ENST00000374608.3_Silent_p.F427F NM_001077195.1 NP_001070663.1 Q9C0F3 ZN436_HUMAN zinc finger protein 436 427 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187) AGCTCTGGGTGAAACCTTTCC 0.483000 46 112 0 0 1 0 0 PYGL 5836 broad.mit.edu 37 14 51379841 51379841 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:51379841C>G ENST00000216392.7 - 13 1858 c.1526G>C c.(1525-1527)gGa>gCa p.G509A RP11-218E20.5_ENST00000557343.1_RNA|PYGL_ENST00000532462.1_Missense_Mutation_p.G509A|PYGL_ENST00000544180.2_Missense_Mutation_p.G475A NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 509 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) ATAGTCTTCTCCAATTTTCTT 0.468000 6 19 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93540221 93540221 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr15:93540221C>G ENST00000394196.4 + 29 4698 c.3630C>G c.(3628-3630)atC>atG p.I1210M CHD2_ENST00000557381.1_Missense_Mutation_p.I1210M NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1210 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) GTCCAACAATCAAGATATCCG 0.383000 10 15 0 0 1 0 0 PLK3 1263 broad.mit.edu 37 1 45269843 45269843 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:45269843G>A ENST00000372201.4 + 11 1506 c.1267G>A c.(1267-1269)Gaa>Aaa p.E423K PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 423 membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) AGGATTTGAAGAAGGTCTGAC 0.557000 28 56 0 0 1 0 0 CCT5 22948 broad.mit.edu 37 5 10262689 10262689 + Nonsense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:10262689G>T ENST00000280326.4 + 9 1696 c.1276G>T c.(1276-1278)Gag>Tag p.E426* CCT5_ENST00000506600.1_Nonsense_Mutation_p.E333*|CCT5_ENST00000515390.1_Nonsense_Mutation_p.E371*|CCT5_ENST00000515676.1_Nonsense_Mutation_p.E388*|CCT5_ENST00000503026.1_Nonsense_Mutation_p.E405* NM_012073.3 NP_036205.1 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 426 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 AGGGGCTGCTGAGATATCCTG 0.522000 4 150 0.00024832 0.000257686 1 1 0 SLC4A5 57835 broad.mit.edu 37 2 74480183 74480183 + Missense_Mutation SNP C C T rs145653085 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:74480183C>T ENST00000394019.2 - 15 1583 c.1186G>A c.(1186-1188)Gag>Aag p.E396K SLC4A5_ENST00000423644.1_Missense_Mutation_p.E396K|SLC4A5_ENST00000346834.4_Missense_Mutation_p.E396K|SLC4A5_ENST00000357822.5_Missense_Mutation_p.E396K|SLC4A5_ENST00000359484.4_Missense_Mutation_p.E332K|SLC4A5_ENST00000377634.4_Missense_Mutation_p.E396K|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.E332K|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.E396K NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 396 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 ACGATGACCTCATCCAGAAAT 0.532000 9 52 0 0 1 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31838022 31838022 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:31838022C>T ENST00000397525.1 - 17 2512 c.2289G>A c.(2287-2289)caG>caA p.Q763Q EIF4ENIF1_ENST00000344710.5_Silent_p.Q589Q|EIF4ENIF1_ENST00000397523.1_Silent_p.Q739Q|EIF4ENIF1_ENST00000330125.5_Silent_p.Q763Q|EIF4ENIF1_ENST00000382180.2_Silent_p.Q418Q NM_001164501.1 NP_001157973.1 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E nuclear import factor 1 763 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 ACGAAGACCTCTGTAATGCTG 0.488000 14 89 0 0 1 0 0 TAS2R39 259285 broad.mit.edu 37 7 142881081 142881081 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:142881081C>T ENST00000446620.1 + 1 570 c.570C>T c.(568-570)atC>atT p.I190I NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 190 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) CTTTCCCTATCCACTCCTCCA 0.438000 14 41 0 0 1 0 0 RPSA 3921 broad.mit.edu 37 3 39453526 39453526 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:39453526C>T ENST00000301821.6 + 6 876 c.767C>T c.(766-768)tCt>tTt p.S256F RPSA_ENST00000443003.1_Missense_Mutation_p.S261F|RPSA_ENST00000478027.1_3'UTR NM_001012321.1|NM_002295.4 NP_001012321.1|NP_002286.2 P08865 RSSA_HUMAN ribosomal protein SA 256 Laminin-binding. cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane protein binding|receptor activity|ribosome binding|structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) CAGGTGCCCTCTGTGCCTATT 0.458000 23 61 0 0 1 0 0 UMODL1 89766 broad.mit.edu 37 21 43529671 43529671 + Splice_Site SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr21:43529671G>A ENST00000400424.2 + 10 1699 c.e10-1 UMODL1_ENST00000408910.2_Splice_Site|UMODL1_ENST00000400427.1_Splice_Site|UMODL1_ENST00000408989.2_Splice_Site NM_001199528.2 NP_001186457 Q5DID0 UROL1_HUMAN uromodulin-like 1 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 CCCCCTGGCAGACTGGGACGA 0.577000 14 68 0 0 1 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101631717 101631717 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:101631717C>G ENST00000310954.6 - 1 536 c.250G>C c.(250-252)Gag>Cag p.E84Q NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 84 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) GACCCCTCCTCAAACTCGGAC 0.587000 24 34 0 0 1 0 0 CLLU1OS 574016 broad.mit.edu 37 12 92814855 92814855 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:92814855C>G ENST00000378487.2 - 3 238 c.237G>C c.(235-237)gtG>gtC p.V79V CLLU1OS_ENST00000538965.1_Silent_p.V79V NM_001025232.1 NP_001020403.1 Q5K130 CLU1O_HUMAN chronic lymphocytic leukemia up-regulated 1 opposite strand 79 large_intestine(1)|lung(7) 8 TTCTCCTTGTCACATTTCCTT 0.433000 65 118 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73736162 73736162 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:73736162G>C ENST00000377110.3 - 1 352 c.109C>G c.(109-111)Cga>Gga p.R37G TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000377111.2_Missense_Mutation_p.R37G|TRPM3_ENST00000357533.2_Intron Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 integral to membrane calcium channel activity p.R37R(1) NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 TTTAGGGGTCGAGGAGCATCA 0.498000 22 20 0 0 1 0 0 OR10AG1 282770 broad.mit.edu 37 11 55735632 55735632 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:55735632C>G ENST00000312345.2 - 1 358 c.308G>C c.(307-309)tGt>tCt p.C103S NM_001005491.1 NP_001005491.1 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, member 1 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 40 Esophageal squamous(21;0.0137) CAGAAGGAGACACTCCGTGCC 0.428000 30 41 0 0 1 0 0 TARDBP 23435 broad.mit.edu 37 1 11076934 11076934 + Nonsense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:11076934C>A ENST00000240185.3 + 3 386 c.272C>A c.(271-273)tCa>tAa p.S91* TARDBP_ENST00000439080.2_Intron|TARDBP_ENST00000315091.3_Nonsense_Mutation_p.S91* NM_007375.3 NP_031401.1 Q13148 TADBP_HUMAN TAR DNA binding protein 91 3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2) 11 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0578) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487) ACAGATGCTTCATCAGCAGTG 0.368000 24 63 1.64293e-13 1.78976e-13 1 1 0 TMEM38A 79041 broad.mit.edu 37 19 16798977 16798977 + Nonsense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:16798977C>G ENST00000187762.2 + 6 786 c.695C>G c.(694-696)tCa>tGa p.S232* NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 232 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 GCCACCCACTCACACAGCTCC 0.612000 42 254 0 0 1 0 0 NECAB3 63941 broad.mit.edu 37 20 32246632 32246632 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr20:32246632G>A ENST00000246190.6 - 9 943 c.888C>T c.(886-888)ctC>ctT p.L296L NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Silent_p.L262L NM_031232.3 NP_112509.3 Q96P71 NECA3_HUMAN N-terminal EF-hand calcium binding protein 3 296 antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process endoplasmic reticulum membrane|Golgi cis cisterna|nucleus calcium ion binding|oxidoreductase activity|protein binding large_intestine(3)|lung(5)|skin(2) 10 TCTGGGCCATGAGGATGTGCT 0.652000 3 16 0 0 1 0 0 NLGN3 54413 broad.mit.edu 37 X 70368014 70368014 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:70368014G>A ENST00000374051.3 + 2 737 c.415G>A c.(415-417)Gaa>Aaa p.E139K NLGN3_ENST00000358741.3_Missense_Mutation_p.E139K|NLGN3_ENST00000536169.1_Missense_Mutation_p.E139K NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 139 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) GGAGCCCAACGAAGACTGTCT 0.597000 11 54 0 0 1 0 0 SERPINA13P 388007 broad.mit.edu 37 14 95109918 95109918 + RNA SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:95109918C>G ENST00000469935.1 + 0 955 NR_015340.1 GCCACCGCTTCCTGCACGACC 0.587000 8 26 0 0 1 0 0 TEAD2 8463 broad.mit.edu 37 19 49858459 49858459 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:49858459G>T ENST00000377214.4 - 5 844 c.482C>A c.(481-483)tCt>tAt p.S161Y TEAD2_ENST00000601519.1_Missense_Mutation_p.S161Y|TEAD2_ENST00000539846.1_Missense_Mutation_p.S30Y|TEAD2_ENST00000593945.1_Missense_Mutation_p.S162Y|TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000311227.2_Missense_Mutation_p.S158Y|TEAD2_ENST00000598810.1_Missense_Mutation_p.S162Y Q15562 TEAD2_HUMAN TEA domain family member 2 158 Pro-rich. hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) GAAAAGCTCAGAGGCCTGGAT 0.577000 4 24 0.00024832 0.000257686 1 1 0 ICA1 3382 broad.mit.edu 37 7 8196838 8196838 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:8196838G>T ENST00000402384.3 - 8 978 c.712C>A c.(712-714)Ctg>Atg p.L238M ICA1_ENST00000406470.2_Missense_Mutation_p.L238M|ICA1_ENST00000265577.7_Missense_Mutation_p.L237M|ICA1_ENST00000422063.2_Missense_Mutation_p.L238M|ICA1_ENST00000396675.3_Missense_Mutation_p.L238M|ICA1_ENST00000401396.1_Missense_Mutation_p.L226M|ICA1_ENST00000407906.1_Missense_Mutation_p.L238M Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa 238 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) AAATGAAGCAGAGTGGTCTGC 0.393000 34 35 1.26612e-14 1.38554e-14 1 1 0 CDK11A 728642 broad.mit.edu 37 1 1636406 1636406 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:1636406G>A ENST00000356200.3 - 12 1527 c.1293C>T c.(1291-1293)atC>atT p.I431I CDK11A_ENST00000404249.3_Silent_p.I465I|CDK11A_ENST00000357760.2_Silent_p.I464I|CDK11A_ENST00000358779.5_Silent_p.I455I|CDK11A_ENST00000378633.1_Silent_p.I468I|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_Silent_p.I431I cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 TCAGGGACGTGATCGGGAAGC 0.547000 84 134 0 0 1 0 0 PALM 5064 broad.mit.edu 37 19 731233 731233 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:731233G>C ENST00000264560.7 + 5 602 c.408G>C c.(406-408)atG>atC p.M136I PALM_ENST00000593172.1_3'UTR|PALM_ENST00000338448.5_Missense_Mutation_p.M136I NM_001040134.1 NP_001035224.1 O75781 PALM_HUMAN paralemmin 136 cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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)|Lung(535;0.201) AGGTGGTGATGAATTCACAGC 0.697000 3 4 0 0 1 0 0 ACCSL 390110 broad.mit.edu 37 11 44069600 44069600 + Nonsense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:44069600C>G ENST00000378832.1 + 1 70 c.14C>G c.(13-15)tCa>tGa p.S5* NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 5 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 AGTCATCGGTCAGACACCCTT 0.552000 11 43 0 0 1 0 0 DDX25 29118 broad.mit.edu 37 11 125778370 125778370 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:125778370G>C ENST00000263576.6 + 6 634 c.479G>C c.(478-480)aGa>aCa p.R160T RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR NM_013264.4 NP_037396.3 Q9UHL0 DDX25_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 25 160 Helicase ATP-binding. mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development chromatoid body|nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1) 10 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046) ATGTTAAGCAGAGTTAATGCC 0.468000 17 99 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220496757 220496757 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:220496757C>T ENST00000358055.3 + 7 1391 c.879C>T c.(877-879)ggC>ggT p.G293G SLC4A3_ENST00000317151.3_Silent_p.G293G|SLC4A3_ENST00000373762.3_Silent_p.G320G|SLC4A3_ENST00000273063.6_Silent_p.G320G|SLC4A3_ENST00000373760.2_Silent_p.G293G|SLC4A3_ENST00000497589.1_3'UTR P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 293 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGACGCAGGGCGGGAGGGGCA 0.627000 14 33 0 0 1 0 0 IRF3 3661 broad.mit.edu 37 19 50167973 50167973 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:50167973G>A ENST00000597198.1 - 2 504 c.123C>T c.(121-123)ggC>ggT p.G41G IRF3_ENST00000596765.1_Intron|IRF3_ENST00000599144.1_Intron|IRF3_ENST00000599223.1_Silent_p.G41G|IRF3_ENST00000598808.1_Intron|IRF3_ENST00000593922.1_Intron|IRF3_ENST00000309877.7_Silent_p.G41G|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000601291.1_Silent_p.G41G|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000600911.1_Silent_p.G41G|IRF3_ENST00000377139.3_Silent_p.G41G|IRF3_ENST00000377135.4_Silent_p.G41G|IRF3_ENST00000442265.2_Silent_p.G41G Q14653 IRF3_HUMAN interferon regulatory factor 3 41 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 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;0.0011)|GBM - Glioblastoma multiforme(134;0.02) CCTGCCGTAGGCCGTGCTTCC 0.662000 58 69 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247151090 247151090 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:247151090C>T ENST00000339986.7 - 4 874 c.727G>A c.(727-729)Gaa>Aaa p.E243K ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron NM_020394.4 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein 695 243 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TTACATTCTTCACATTTGCAA 0.358000 23 35 0 0 1 0 0 ZNF365 22891 broad.mit.edu 37 10 64382990 64382990 + Missense_Mutation SNP C C T rs113542007 byFrequency TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:64382990C>T ENST00000410046.3 + 5 1389 c.1109C>T c.(1108-1110)aCg>aTg p.T370M ZNF365_ENST00000395251.1_Intron NM_199451.2 NP_955523.1 Q70YC4 TALAN_HUMAN zinc finger protein 365 124 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) AATCCCTGGACGTCTTCCACG 0.463000 25 74 0 0 1 0 0 RPL31 6160 broad.mit.edu 37 2 101620642 101620642 + Silent SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:101620642C>A ENST00000409711.1 + 2 141 c.130C>A c.(130-132)Cgg>Agg p.R44R RPL31_ENST00000409320.3_Silent_p.R44R|RPL31_ENST00000409038.1_Silent_p.R44R|RPL31_ENST00000264258.3_Silent_p.R44R|RPL31_ENST00000409650.1_Silent_p.R44R|RPL31_ENST00000409028.4_Silent_p.R44R|RPL31_ENST00000409000.1_Silent_p.R44R|RPL31_ENST00000409733.1_Silent_p.R44R P62899 RL31_HUMAN ribosomal protein L31 44 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(3) 8 GCGTGCACCTCGGGCACTCAA 0.448000 13 57 0.000308642 0.00031925 1 1 0 MRTO4 51154 broad.mit.edu 37 1 19585286 19585286 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:19585286G>C ENST00000330263.4 + 8 979 c.682G>C c.(682-684)Gag>Cag p.E228Q NM_016183.3 NP_057267.2 Q9UKD2 MRT4_HUMAN mRNA turnover 4 homolog (S. cerevisiae) 228 ribosome biogenesis nuclear membrane|nucleolus breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GAGCGCATCTGAGTCCACAGA 0.517000 19 66 0 0 1 0 0 PCIF1 63935 broad.mit.edu 37 20 44572019 44572019 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr20:44572019C>T ENST00000372409.3 + 9 1226 c.862C>T c.(862-864)Ctc>Ttc p.L288F NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 288 nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 CAAGCGCCTGCTCTTTAAATA 0.542000 5 62 0 0 1 0 0 OR6K6 128371 broad.mit.edu 37 1 158724754 158724754 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:158724754G>A ENST00000368144.2 + 1 245 c.149G>A c.(148-150)aGa>aAa p.R50K NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CATGCGCACAGAGGTGGCCTC 0.463000 32 140 0 0 1 0 0 MBTPS1 8720 broad.mit.edu 37 16 84132724 84132724 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:84132724C>G ENST00000343411.3 - 3 850 c.355G>C c.(355-357)Gat>Cat p.D119H NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 119 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TTTGGATGATCTTCAAGTGTT 0.423000 14 63 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94057055 94057055 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:94057055C>G ENST00000297268.6 + 49 3855 c.3384C>G c.(3382-3384)ctC>ctG p.L1128L NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 1128 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 p.L1128L(1) 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) CACCTTCTCTCAGACCCAAGG 0.522000 HNSCC(75;0.22) 10 43 0 0 1 0 0 SULT1C2 6819 broad.mit.edu 37 2 108921937 108921937 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:108921937G>C ENST00000326853.5 + 8 1150 c.697G>C c.(697-699)Gat>Cat p.D233H SULT1C2_ENST00000437390.2_Missense_Mutation_p.D236H|SULT1C2_ENST00000409880.1_Missense_Mutation_p.D185H|SULT1C2_ENST00000251481.6_Missense_Mutation_p.D222H NM_176825.2 NP_789795.1 O00338 ST1C2_HUMAN sulfotransferase family, cytosolic, 1C, member 2 222 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 AACAGTGCTAGATAAAATTGT 0.418000 24 32 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2659602 2659602 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:2659602G>A ENST00000324666.5 + 6 862 c.511G>A c.(511-513)Gaa>Aaa p.E171K FAM193A_ENST00000505311.1_Missense_Mutation_p.E171K|FAM193A_ENST00000382839.3_Missense_Mutation_p.E171K|FAM193A_ENST00000545951.1_Missense_Mutation_p.E171K|FAM193A_ENST00000502458.1_Missense_Mutation_p.E195K NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 171 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 ATTCATTGAAGAACAGGTAAG 0.373000 20 182 0 0 1 0 0 RACGAP1 29127 broad.mit.edu 37 12 50388223 50388223 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:50388223C>T ENST00000434422.1 - 12 1415 c.1114G>A c.(1114-1116)Gag>Aag p.E372K RACGAP1_ENST00000454520.2_Missense_Mutation_p.E372K|RACGAP1_ENST00000551016.1_Missense_Mutation_p.E372K|RACGAP1_ENST00000312377.5_Missense_Mutation_p.E372K|RACGAP1_ENST00000427314.2_Missense_Mutation_p.E372K|RACGAP1_ENST00000547905.1_Missense_Mutation_p.E372K Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 372 Rho-GAP. blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6) 14 TGCTCAATCTCATTTACACAA 0.368000 10 50 0 0 1 0 0 CNNM4 26504 broad.mit.edu 37 2 97464824 97464824 + Nonsense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:97464824C>G ENST00000377075.2 + 4 1810 c.1712C>G c.(1711-1713)tCa>tGa p.S571* CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_Nonsense_Mutation_p.S58* NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 571 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 TCCCTGATATCAGAGAAGATC 0.532000 5 53 0 0 1 0 0 CSTF2T 23283 broad.mit.edu 37 10 53458721 53458721 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:53458721C>T ENST00000331173.4 - 1 634 c.589G>A c.(589-591)Gtc>Atc p.V197I PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000373980.4_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 197 mRNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) AGTGGTGTGACATGTATCTTC 0.512000 6 55 0 0 1 0 0 ZNF157 7712 broad.mit.edu 37 X 47272750 47272750 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:47272750G>C ENST00000377073.3 + 4 1364 c.1278G>C c.(1276-1278)aaG>aaC p.K426N NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 426 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 TCAGTATGAAGAAATCCCTTT 0.413000 9 19 0 0 1 0 0 FAM60A 58516 broad.mit.edu 37 12 31435710 31435710 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr12:31435710G>A ENST00000337682.4 - 6 970 c.602C>T c.(601-603)gCa>gTa p.A201V FAM60A_ENST00000539409.1_Missense_Mutation_p.A53V|FAM60A_ENST00000542983.1_Missense_Mutation_p.A53V|FAM60A_ENST00000454658.2_Missense_Mutation_p.A201V|FAM60A_ENST00000395766.1_Missense_Mutation_p.A53V NM_001135812.1 NP_001129284.1 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A 201 large_intestine(1)|lung(2) 3 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) CTCAGCAGCTGCTTTCTTATT 0.468000 5 32 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14791438 14791438 + Missense_Mutation SNP A A T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr18:14791438A>T ENST00000358984.4 + 16 1953 c.1773A>T c.(1771-1773)ttA>ttT p.L591F ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.L591F NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 591 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 ATGTGTATTTACCCAAAGCTA 0.289000 6 31 0 0 1 0 0 DLAT 1737 broad.mit.edu 37 11 111922053 111922053 + Nonsense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:111922053G>A ENST00000280346.6 + 11 2153 c.1494G>A c.(1492-1494)tgG>tgA p.W498* DLAT_ENST00000393051.1_Nonsense_Mutation_p.W393*|DLAT_ENST00000537636.1_Nonsense_Mutation_p.W269* NM_001931.4 NP_001922.2 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase 498 Catalytic (By similarity). glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1) 22 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) ATTCTTCTTGGATGGACACAG 0.358000 15 69 0 0 1 0 0 ST13 6767 broad.mit.edu 37 22 41228614 41228614 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr22:41228614C>G ENST00000216218.3 - 8 1121 c.640G>C c.(640-642)Gat>Cat p.D214H NM_003932.3 NP_003923.2 P50502 F10A1_HUMAN suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 214 protein binding, bridging cervix(1)|large_intestine(1)|lung(3)|skin(1) 6 GCATCTTCATCATAATCCAAT 0.408000 6 43 0 0 1 0 0 SLC4A5 57835 broad.mit.edu 37 2 74492307 74492307 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:74492307G>C ENST00000394019.2 - 9 883 c.486C>G c.(484-486)ctC>ctG p.L162L SLC4A5_ENST00000423644.1_Silent_p.L162L|SLC4A5_ENST00000346834.4_Silent_p.L162L|SLC4A5_ENST00000357822.5_Silent_p.L162L|SLC4A5_ENST00000359484.4_Silent_p.L98L|SLC4A5_ENST00000377634.4_Silent_p.L162L|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Silent_p.L98L|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Silent_p.L162L NM_133478.2 NP_597812.1 Q9BY07 S4A5_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 5 162 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GGAGCTCGAAGAGGCTGTGCA 0.572000 12 74 0 0 1 0 0 BAI2 576 broad.mit.edu 37 1 32221627 32221627 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:32221627C>G ENST00000373658.3 - 4 1152 c.811G>C c.(811-813)Gat>Cat p.D271H BAI2_ENST00000398547.1_Missense_Mutation_p.D259H|BAI2_ENST00000398538.1_Missense_Mutation_p.D259H|BAI2_ENST00000398556.3_Missense_Mutation_p.D274H|BAI2_ENST00000527361.1_Missense_Mutation_p.D271H|BAI2_ENST00000257070.4_Missense_Mutation_p.D271H|BAI2_ENST00000373655.2_Missense_Mutation_p.D271H|BAI2_ENST00000398542.1_Missense_Mutation_p.D259H NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 271 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) GTGAACAGATCATTGCTGCTC 0.647000 20 72 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6648747 6648747 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:6648747C>T ENST00000299441.3 - 14 5934 c.5523G>A c.(5521-5523)ttG>ttA p.L1841L NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1841 Cadherin 17. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGTCACTGTCAAAAGCAGCG 0.617000 3 7 0 0 1 0 0 MESDC1 59274 broad.mit.edu 37 15 81294881 81294881 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr15:81294881C>G ENST00000267984.2 + 1 1587 c.269C>G c.(268-270)tCc>tGc p.S90C NM_022566.2 NP_072088.1 Q9H1K6 MESD1_HUMAN mesoderm development candidate 1 90 endometrium(1)|lung(2) 3 AAGGGGCTCTCCATCCTCACC 0.711000 3 22 0 0 1 0 0 CRMP1 1400 broad.mit.edu 37 4 5844873 5844873 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:5844873G>A ENST00000324989.7 - 7 1067 c.979C>T c.(979-981)Ctg>Ttg p.L327L CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000397890.2_Silent_p.L213L|CRMP1_ENST00000512574.1_Silent_p.L211L NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 213 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) CCCATCTCCAGGATCCGCTTT 0.542000 16 48 0 0 1 0 0 ZNF471 57573 broad.mit.edu 37 19 57036445 57036445 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:57036445C>G ENST00000308031.5 + 5 1142 c.1009C>G c.(1009-1011)Cag>Gag p.Q337E ZNF471_ENST00000591537.1_Missense_Mutation_p.I196M|ZNF471_ENST00000593197.1_Intron NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 337 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) TGCTCGACATCAGAGATGTCA 0.423000 20 121 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163693088 163693088 + Nonsense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:163693088G>C ENST00000332142.5 - 2 365 c.266C>G c.(265-267)tCa>tGa p.S89* KCNH7_ENST00000328032.4_Nonsense_Mutation_p.S89* NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 89 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.S89*(2) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) CCTCTCTTCTGACCCCAGCAA 0.443000 22 35 0 0 1 0 0 RBBP4 5928 broad.mit.edu 37 1 33135116 33135116 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:33135116G>A ENST00000373493.5 + 8 1077 c.918G>A c.(916-918)ctG>ctA p.L306L RBBP4_ENST00000458695.2_Silent_p.L271L|RBBP4_ENST00000544435.1_Silent_p.L54L|RBBP4_ENST00000373485.1_Silent_p.L306L|RBBP4_ENST00000414241.3_Silent_p.L305L NM_001135255.1|NM_005610.2 NP_001128727.1|NP_005601.1 Q09028 RBBP4_HUMAN retinoblastoma binding protein 4 306 cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex histone binding|histone deacetylase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) TGAGAAATCTGAAACTTAAGT 0.308000 18 51 0 0 1 0 0 CPE 1363 broad.mit.edu 37 4 166418725 166418725 + Missense_Mutation SNP A A T rs140816537 byFrequency TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:166418725A>T ENST00000402744.4 + 9 1674 c.1394A>T c.(1393-1395)gAa>gTa p.E465V NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 465 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAATTGATGGAATGGTGGAAA 0.303000 8 34 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37623624 37623624 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:37623624C>T ENST00000297153.7 - 4 1609 c.431G>A c.(430-432)cGa>cAa p.R144Q MDGA1_ENST00000434837.3_Missense_Mutation_p.R144Q|MDGA1_ENST00000505425.1_Missense_Mutation_p.R144Q Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 144 Ig-like 2. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 GAAGTTGCCTCGCACATCGCT 0.607000 4 32 0 0 1 0 0 PRKCI 5584 broad.mit.edu 37 3 169999005 169999005 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:169999005C>T ENST00000295797.4 + 10 1239 c.934C>T c.(934-936)Cat>Tat p.H312Y NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 312 Protein kinase. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) GGCATCCAATCATCCTTTCCT 0.358000 18 71 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13602772 13602772 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:13602772C>G ENST00000040738.5 - 10 5887 c.5752G>C c.(5752-5754)Gag>Cag p.E1918Q NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1918 DNA binding GCTCCAGCCTCAGCTTCCACA 0.448000 64 42 0 0 1 0 0 REV1 51455 broad.mit.edu 37 2 100019149 100019149 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:100019149C>G ENST00000258428.3 - 21 3727 c.3499G>C c.(3499-3501)Gat>Cat p.D1167H REV1_ENST00000393445.3_Missense_Mutation_p.D1166H NM_001037872.1|NM_016316.2 NP_001032961.1|NP_057400.1 Q9UBZ9 REV1_HUMAN REV1, polymerase (DNA directed) 1167 Protein interaction domain; mediates interaction with DNA polymerase zeta. DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTCTTCACATCATTGAATTCA 0.483000 Direct reversal of damage 14 58 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72189913 72189913 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr15:72189913C>G ENST00000356056.5 - 25 5403 c.4931G>C c.(4930-4932)aGa>aCa p.R1644T MYO9A_ENST00000444904.1_Missense_Mutation_p.R1625T|MYO9A_ENST00000564571.1_Missense_Mutation_p.R1644T|MYO9A_ENST00000566885.1_Missense_Mutation_p.R1264T|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.R1644T NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1644 Tail. 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 AAAGTGTTCTCTTTTTGAAAT 0.428000 25 71 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65409696 65409696 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:65409696C>A ENST00000519389.1 + 6 1320 c.1141C>A c.(1141-1143)Cca>Aca p.P381T HEPH_ENST00000419594.1_Missense_Mutation_p.P330T|HEPH_ENST00000374727.3_Missense_Mutation_p.P330T|HEPH_ENST00000336279.5_Missense_Mutation_p.P60T|HEPH_ENST00000343002.2_Missense_Mutation_p.P327T|HEPH_ENST00000441993.2_Missense_Mutation_p.P330T Q9BQS7 HEPH_HUMAN hephaestin 327 Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TAACATCTTTCCAGCCACCTT 0.483000 7 10 1.06961e-07 1.12819e-07 1 1 0 NCBP2 22916 broad.mit.edu 37 3 196666133 196666133 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:196666133G>C ENST00000447325.1 - 2 388 c.39C>G c.(37-39)ttC>ttG p.F13L NCBP2_ENST00000422610.1_Missense_Mutation_p.F13L|NCBP2_ENST00000321256.5_Missense_Mutation_p.F83L|NCBP2_ENST00000452404.2_Missense_Mutation_p.F65L|NCBP2_ENST00000427641.2_Intron P52298 NCBP2_HUMAN nuclear cap binding protein subunit 2, 20kDa 83 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm nucleotide binding|protein binding|RNA 7-methylguanosine cap binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00551) CCACAAAACAGAATCCACATG 0.428000 8 63 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10941028 10941028 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:10941028C>G ENST00000314646.5 + 20 2681 c.2517C>G c.(2515-2517)ccC>ccG p.P839P DNM2_ENST00000585892.1_Silent_p.P839P|DNM2_ENST00000389253.4_Silent_p.P839P|DNM2_ENST00000355667.6_Silent_p.P839P|DNM2_ENST00000408974.4_Silent_p.P835P|DNM2_ENST00000359692.6_Silent_p.P835P P50570 DYN2_HUMAN dynamin 2 839 Pro-rich. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TTCGGATCCCCCCAGGGATTC 0.662000 """F, N, Splice, Mis, O""" ETP ALL 4 98 0 0 1 0 0 OR6K6 128371 broad.mit.edu 37 1 158725567 158725567 + Missense_Mutation SNP A A C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:158725567A>C ENST00000368144.2 + 1 1058 c.962A>C c.(961-963)aAc>aCc p.N321T NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 321 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) AGCCTGAAAAACAAGGACATG 0.448000 10 138 0 0 1 0 0 OR5M9 390162 broad.mit.edu 37 11 56230147 56230147 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:56230147G>A ENST00000279791.1 - 1 730 c.731C>T c.(730-732)aCg>aTg p.T244M NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T244M(3) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) AGAAACAGCCGTCAAGTGGGA 0.532000 19 20 0 0 1 0 0 C14orf79 122616 broad.mit.edu 37 14 105452861 105452861 + Silent SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:105452861G>C ENST00000547315.1 + 1 732 c.93G>C c.(91-93)ctG>ctC p.L31L NM_174891.3 NP_777551.2 Q96F83 CN079_HUMAN chromosome 14 open reading frame 79 31 breast(1)|endometrium(1)|lung(1) 3 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181) CTGAGAGGCTGAGTGATGACA 0.632000 10 23 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37032769 37032769 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:37032769G>C ENST00000379242.3 + 14 1653 c.1351G>C c.(1351-1353)Gag>Cag p.E451Q VIT_ENST00000389975.3_Missense_Mutation_p.E436Q|VIT_ENST00000401530.1_Missense_Mutation_p.E415Q|VIT_ENST00000404084.1_Missense_Mutation_p.E388Q|VIT_ENST00000497382.1_Missense_Mutation_p.E105Q|VIT_ENST00000379241.3_Missense_Mutation_p.E414Q NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 436 VWFA 1. proteinaceous extracellular matrix p.E451*(1) autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) TGCTGAAAATGAGAAGCAGTA 0.478000 40 50 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152782775 152782775 + Missense_Mutation SNP T T A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:152782775T>A ENST00000367255.5 - 21 2952 c.2351A>T c.(2350-2352)gAa>gTa p.E784V SYNE1_ENST00000341594.5_Missense_Mutation_p.E791V|SYNE1_ENST00000367253.4_Missense_Mutation_p.E784V|SYNE1_ENST00000423061.1_Missense_Mutation_p.E791V|SYNE1_ENST00000367248.3_Missense_Mutation_p.E774V|SYNE1_ENST00000413186.2_Missense_Mutation_p.E784V|SYNE1_ENST00000495090.2_Missense_Mutation_p.E351V|SYNE1_ENST00000265368.4_Missense_Mutation_p.E784V|SYNE1_ENST00000448038.1_Missense_Mutation_p.E791V NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 784 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CGCAAACATTTCTTTTCCTTC 0.433000 HNSCC(10;0.0054) 27 78 0 0 1 0 0 DUS1L 64118 broad.mit.edu 37 17 80019827 80019827 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr17:80019827C>G ENST00000354321.7 - 5 1028 c.543G>C c.(541-543)caG>caC p.Q181H DUS1L_ENST00000306796.5_Missense_Mutation_p.Q181H Q6P1R4 DUS1L_HUMAN dihydrouridine synthase 1-like (S. cerevisiae) 181 tRNA processing flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1) 6 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) GGGGCCCCTTCTGCTCCTTGG 0.662000 10 79 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145147383 145147383 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:145147383C>T ENST00000558170.2 - 10 4464 c.3280G>A c.(3280-3282)Gag>Aag p.E1094K ZEB2_ENST00000303660.4_Missense_Mutation_p.E1094K|ZEB2_ENST00000409487.3_Missense_Mutation_p.E1094K|ZEB2_ENST00000539609.3_Missense_Mutation_p.E1070K NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 1094 Glu-rich (acidic). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding p.E1094K(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TCGCGCGCCTCGCGCTCCGCC 0.617000 17 50 0 0 1 0 0 KLKB1 3818 broad.mit.edu 37 4 187159490 187159490 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:187159490C>T ENST00000264690.6 + 6 756 c.569C>T c.(568-570)tCa>tTa p.S190L KLKB1_ENST00000513864.1_Missense_Mutation_p.S190L NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 190 Apple 2. blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 40 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TCTGGATTCTCACTGAAGCCC 0.473000 12 50 0 0 1 0 0 RAET1K 646024 broad.mit.edu 37 6 150322104 150322104 + RNA SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:150322104C>G ENST00000533735.1 - 0 772 NR_024045.1 TCTCCCACTTCTCTGTCATCT 0.433000 3 7 0 0 1 0 0 FAM122C 159091 broad.mit.edu 37 X 133988222 133988222 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:133988222C>G ENST00000445123.1 + 12 1829 c.533C>G c.(532-534)tCt>tGt p.S178C FAM122C_ENST00000370784.4_Missense_Mutation_p.L182V|FAM122C_ENST00000370785.3_3'UTR Q6P4D5 F222C_HUMAN family with sequence similarity 122C 0 endometrium(2)|kidney(1)|lung(2) 5 Acute lymphoblastic leukemia(192;0.000127) GTGTCACCTTCTGATACTGGT 0.428000 12 37 0 0 1 0 0 DEGS2 123099 broad.mit.edu 37 14 100615443 100615443 + Silent SNP G G A rs145891510 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:100615443G>A ENST00000305631.5 - 2 1262 c.687C>T c.(685-687)ttC>ttT p.F229F DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron NM_206918.2 NP_996801.2 Q6QHC5 DEGS2_HUMAN delta(4)-desaturase, sphingolipid 2 229 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity p.F229F(2) breast(1)|lung(6)|skin(1) 8 Melanoma(154;0.212) GCTCGGCCACGAAGTGGCCCG 0.622000 13 67 0 0 1 0 0 MICAL1 64780 broad.mit.edu 37 6 109769440 109769440 + Missense_Mutation SNP G G T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:109769440G>T ENST00000368952.4 - 13 2168 c.1878C>A c.(1876-1878)ttC>ttA p.F626L MICAL1_ENST00000358577.3_Missense_Mutation_p.F521L|MICAL1_ENST00000358807.3_Missense_Mutation_p.F607L Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 607 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) AGGCACTGTGGAAGTGGCTGA 0.597000 13 31 9.05144e-12 9.76096e-12 1 1 0 NAALADL1 10004 broad.mit.edu 37 11 64822077 64822077 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:64822077C>T ENST00000358658.3 - 5 764 c.737G>A c.(736-738)cGa>cAa p.R246Q NAALADL1_ENST00000355721.3_Missense_Mutation_p.R205Q|NAALADL1_ENST00000339885.2_Missense_Mutation_p.R246Q|NAALADL1_ENST00000355369.2_Missense_Mutation_p.R246Q|NAALADL1_ENST00000340252.4_Missense_Mutation_p.R246Q|NAALADL1_ENST00000356632.3_Missense_Mutation_p.R246Q NM_005468.2 NP_005459.2 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 246 proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity p.R246Q(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 GTAGGAGCCTCGCTCCACTCC 0.597000 OREG0032001 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 6 10 0 0 1 0 0 TMEM26 219623 broad.mit.edu 37 10 63212699 63212699 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr10:63212699G>A ENST00000399298.3 - 1 509 c.141C>T c.(139-141)ttC>ttT p.F47F TMEM26_ENST00000399293.1_Silent_p.F47F|RP11-809M12.1_ENST00000389640.4_RNA NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 47 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) CAGTCTCCAGGAAGAGCAAGA 0.627000 10 54 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236189248 236189248 + Silent SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:236189248C>T ENST00000264187.6 - 8 2014 c.1932G>A c.(1930-1932)caG>caA p.Q644Q NID1_ENST00000366595.3_Silent_p.Q644Q NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 644 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TCTTCTCCTCCTGGTTGTACA 0.572000 9 186 0 0 1 0 0 PRKCD 5580 broad.mit.edu 37 3 53220312 53220312 + Missense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:53220312G>A ENST00000394729.2 + 12 1544 c.1216G>A c.(1216-1218)Gag>Aag p.E406K PRKCD_ENST00000330452.3_Missense_Mutation_p.E406K NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 406 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) ACTTGCCGCAGAGAATCCCTT 0.592000 26 47 0 0 1 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103306707 103306707 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:103306707G>C ENST00000375735.2 + 85 12547 c.12403G>C c.(12403-12405)Gaa>Caa p.E4135Q DYNC2H1_ENST00000334267.7_Missense_Mutation_p.E748Q|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E4142Q NM_001080463.1|NM_001377.2 NP_001073932.1|NP_001368.2 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 4135 cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) GGAAGGCCCAGAAGATCCCTT 0.413000 12 13 0 0 1 0 0 NUP160 23279 broad.mit.edu 37 11 47825079 47825079 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr11:47825079G>C ENST00000378460.2 - 22 2732 c.2686C>G c.(2686-2688)Caa>Gaa p.Q896E NUP160_ENST00000528071.1_Missense_Mutation_p.Q782E|NUP160_ENST00000530326.1_Missense_Mutation_p.Q782E NM_015231.1 NP_056046.1 Q12769 NU160_HUMAN nucleoporin 160kDa 896 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 TGTAGCAGTTGAATATAATCC 0.378000 13 57 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242695290 242695290 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:242695290C>G ENST00000321264.4 + 9 1376 c.1167C>G c.(1165-1167)atC>atG p.I389M D2HGDH_ENST00000403782.1_Missense_Mutation_p.I255M|D2HGDH_ENST00000486953.1_3'UTR NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 389 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 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) GGGAAAGGATCACAGAGGCGC 0.632000 17 104 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6935042 6935042 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:6935042G>C ENST00000312053.4 + 18 2371 c.2334G>C c.(2332-2334)caG>caC p.Q778H EMR1_ENST00000450315.3_Missense_Mutation_p.Q601H|EMR1_ENST00000381407.5_Missense_Mutation_p.Q637H|EMR1_ENST00000381404.4_Missense_Mutation_p.Q759H|EMR1_ENST00000250572.8_Missense_Mutation_p.Q713H NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 778 cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) TCCTGAGGCAGAGGCTTTCCA 0.488000 22 107 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197073531 197073531 + Missense_Mutation SNP C C A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:197073531C>A ENST00000367409.4 - 18 5106 c.4850G>T c.(4849-4851)cGa>cTa p.R1617L ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1617 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 AATATAAGCTCGGAAATGAGT 0.378000 24 68 7.87624e-14 8.59957e-14 1 1 0 CUL4A 8451 broad.mit.edu 37 13 113889383 113889383 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr13:113889383G>C ENST00000451881.1 + 8 721 c.472G>C c.(472-474)Gaa>Caa p.E158Q CUL4A_ENST00000326335.4_Missense_Mutation_p.E158Q|CUL4A_ENST00000375441.3_Missense_Mutation_p.E158Q|CUL4A_ENST00000375440.4_Missense_Mutation_p.E258Q NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 258 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) TAAGGTTCCAGAATATCTTAA 0.358000 14 25 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167643840 167643840 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:167643840G>C ENST00000519204.1 + 21 3901 c.3783G>C c.(3781-3783)caG>caC p.Q1261H TENM2_ENST00000520394.1_Missense_Mutation_p.Q1143H|TENM2_ENST00000403607.2_Missense_Mutation_p.Q1206H|TENM2_ENST00000518659.1_Missense_Mutation_p.Q1382H|TENM2_ENST00000545108.1_Missense_Mutation_p.Q1381H teneurin transmembrane protein 2 AGGTTGACCAGAATGGAATCA 0.522000 11 26 0 0 1 0 0 TNRC18 84629 broad.mit.edu 37 7 5410927 5410927 + Nonsense_Mutation SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:5410927G>A ENST00000399537.4 - 11 3646 c.3298C>T c.(3298-3300)Cag>Tag p.Q1100* TNRC18_ENST00000430969.1_Nonsense_Mutation_p.Q1100* O15417 TNC18_HUMAN trinucleotide repeat containing 18 1100 Pro-rich. DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GCCGTGGGCTGCAGCAGGAAA 0.692000 5 4 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52650273 52650273 + Missense_Mutation SNP C C G rs139136964 byFrequency TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr13:52650273C>G ENST00000355568.4 - 19 1793 c.1654G>C c.(1654-1656)Gaa>Caa p.E552Q NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 552 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) AAGTCTTTTTCAATGTCCTGA 0.294000 3 28 0 0 1 0 0 ZNF14 7561 broad.mit.edu 37 19 19823881 19823881 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:19823881C>G ENST00000344099.3 - 4 347 c.209G>C c.(208-210)aGa>aCa p.R70T NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 70 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) TTCACAGAGTCTCTCAACCAT 0.323000 34 67 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152496415 152496415 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:152496415G>C ENST00000427231.2 - 62 9047 c.8845C>G c.(8845-8847)Ctg>Gtg p.L2949V NEB_ENST00000172853.10_Missense_Mutation_p.L2949V|NEB_ENST00000603639.1_Missense_Mutation_p.L2949V|NEB_ENST00000397345.3_Missense_Mutation_p.L2949V|NEB_ENST00000604864.1_Missense_Mutation_p.L2949V|NEB_ENST00000409198.1_Missense_Mutation_p.L2949V NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 2949 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ACTTGTTCCAGAGAGTCAGTC 0.388000 10 17 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27087458 27087458 + Nonsense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:27087458C>T ENST00000324856.7 + 5 2403 c.2032C>T c.(2032-2034)Cag>Tag p.Q678* ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q295*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q678* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 678 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.N675fs*64(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TAATCCAGCTCAGTCTCCTTT 0.582000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 21 52 0 0 1 0 0 CTAGE5 4253 broad.mit.edu 37 14 39782547 39782547 + Missense_Mutation SNP A A T rs144905256 TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr14:39782547A>T ENST00000553728.1 + 18 3015 c.2802A>T c.(2800-2802)aaA>aaT p.K934N CTAGE5_ENST00000396165.4_Missense_Mutation_p.K370N|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.K370N|CTAGE5_ENST00000396158.2_Missense_Mutation_p.K404N|CTAGE5_ENST00000280083.3_Missense_Mutation_p.K399N|CTAGE5_ENST00000557038.1_Missense_Mutation_p.K319N|CTAGE5_ENST00000341749.3_Missense_Mutation_p.K387N|CTAGE5_ENST00000348007.3_Missense_Mutation_p.K399N|CTAGE5_ENST00000341502.5_Missense_Mutation_p.K399N|CTAGE5_ENST00000553352.1_Missense_Mutation_p.K370N|CTAGE5_ENST00000556148.1_Missense_Mutation_p.K324N TTTTAAGGAAATTAACAGTAG 0.299000 5 34 0 0 1 0 0 SLC6A20 54716 broad.mit.edu 37 3 45812725 45812725 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:45812725C>T ENST00000358525.4 - 6 1034 c.919G>A c.(919-921)Gaa>Aaa p.E307K SLC6A20_ENST00000353278.4_Missense_Mutation_p.E270K|SLC6A20_ENST00000456124.2_Missense_Mutation_p.E307K NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 307 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.E270K(1)|p.E307K(1) breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) AAGCAGTTTTCATAATTGAAG 0.547000 24 29 0 0 1 0 0 SERPINI2 5276 broad.mit.edu 37 3 167189390 167189390 + Missense_Mutation SNP T T G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:167189390T>G ENST00000476257.1 - 3 531 c.233A>C c.(232-234)cAg>cCg p.Q78P SERPINI2_ENST00000471111.1_Missense_Mutation_p.Q78P|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000264677.4_Missense_Mutation_p.Q78P|SERPINI2_ENST00000461846.1_Missense_Mutation_p.Q78P O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 78 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 TGAGGTTTCCTGTTGTTTTAA 0.358000 13 60 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34840212 34840212 + Silent SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:34840212C>G ENST00000192788.5 + 21 4491 c.4320C>G c.(4318-4320)ctC>ctG p.L1440L UHRF1BP1_ENST00000452449.2_Intron NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 1440 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 TCTTTGAGCTCTGAAACCAGT 0.448000 3 23 0 0 1 0 0 NKRF 55922 broad.mit.edu 37 X 118724734 118724734 + Silent SNP A A G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:118724734A>G ENST00000371527.1 - 2 1306 c.654T>C c.(652-654)taT>taC p.Y218Y NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Silent_p.Y233Y|NKRF_ENST00000304449.5_Silent_p.Y218Y NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 218 Active repression domain. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 TTAAAGGAGCATATATATACT 0.328000 20 91 0 0 1 0 0 ZNF250 58500 broad.mit.edu 37 8 146107175 146107175 + Missense_Mutation SNP C C T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr8:146107175C>T ENST00000292579.7 - 6 1524 c.1408G>A c.(1408-1410)Gag>Aag p.E470K ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.E465K|ZNF250_ENST00000543949.1_Intron NM_001109689.3|NM_021061.4 NP_001103159.1|NP_066405.1 P15622 ZN250_HUMAN zinc finger protein 250 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) TGGATTCTCTCATGCTGGATC 0.557000 4 29 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121155015 121155015 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr3:121155015G>A ENST00000264233.5 - 28 7625 c.7497C>T c.(7495-7497)ttC>ttT p.F2499F NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 2499 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CATGGGATTTGAAGGTTGAGT 0.413000 DNA polymerases (catalytic subunits) 19 58 0 0 1 0 0 KIF27 55582 broad.mit.edu 37 9 86498900 86498900 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:86498900G>C ENST00000297814.2 - 10 2416 c.2273C>G c.(2272-2274)tCt>tGt p.S758C KIF27_ENST00000376347.1_Missense_Mutation_p.S149C|KIF27_ENST00000413982.1_Missense_Mutation_p.S758C|KIF27_ENST00000334204.2_Missense_Mutation_p.S758C NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 758 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 TACTTTCAAAGAATACTGCTT 0.323000 18 62 0 0 1 0 0 SEMA4A 64218 broad.mit.edu 37 1 156144686 156144686 + Frame_Shift_Del DEL C C - TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr1:156144686delC ENST00000368285.3 + 12 1656 c.1389delC c.(1387-1389)ttcfs p.F463fs SEMA4A_ENST00000355014.2_Frame_Shift_Del_p.F463fs|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Frame_Shift_Del_p.F331fs|SEMA4A_ENST00000368282.1_Frame_Shift_Del_p.F463fs|SEMA4A_ENST00000368284.1_Frame_Shift_Del_p.F331fs NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 463 Sema. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) TTCAGCTGTTCCCTGACCCTG 0.607 13 105 --- --- --- --- LINC01158 100506421 broad.mit.edu 37 2 105440927 105440929 + RNA DEL TGG TGG - TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:105440927_105440929delTGG ENST00000458253.1 - 0 147 AC018730.1_ENST00000454729.1_RNA|AC018730.1_ENST00000443988.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000413121.1_RNA gtggtggtgatggtggtggtggt 0.591 5 3 --- --- --- --- ACVR2A 92 broad.mit.edu 37 2 148657415 148657415 + Frame_Shift_Del DEL G G - TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr2:148657415delG ENST00000241416.7 + 4 1112 c.476delG c.(475-477)tggfs p.W159fs ACVR2A_ENST00000535787.1_Frame_Shift_Del_p.W51fs|AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Frame_Shift_Del_p.W159fs NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 159 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity p.W159L(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) TGTGCATTTTGGGTGTACAGG 0.398 9 135 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100261040 100261041 + RNA INS - - A rs138827617 by1000genomes TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr4:100261040_100261041insA ENST00000515683.1 - 0 1316 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) AGTGCTTTCACAAAAAAAATCA 0.327 5 3 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)acgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 6 9 --- --- --- --- QKI 9444 broad.mit.edu 37 6 163984678 163984680 + In_Frame_Del DEL CTA CTA - TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr6:163984678_163984680delCTA ENST00000361752.3 + 6 1412_1414 c.861_863delCTA c.(859-864)ccctat>cct p.Y288del QKI_ENST00000361195.2_In_Frame_Del_p.Y280del|QKI_ENST00000275262.7_In_Frame_Del_p.Y288del|QKI_ENST00000392127.2_In_Frame_Del_p.Y288del|QKI_ENST00000424802.3_In_Frame_Del_p.Y280del|QKI_ENST00000453779.2_In_Frame_Del_p.Y288del NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding 288 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) TCTATACACCCTATGAGTACCCC 0.468 25 100 --- --- --- --- CCT6P1 643253 broad.mit.edu 37 7 65222951 65222951 + RNA DEL T T - TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:65222951delT ENST00000442266.1 + 0 561 TTTCTGTAACTTTTTTTTTTT 0.323 3 6 --- --- --- --- RELN 5649 broad.mit.edu 37 7 103202034 103202035 + Frame_Shift_Ins INS - - T TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr7:103202034_103202035insT ENST00000428762.1 - 36 5632_5633 c.5473_5474insA c.(5473-5475)aggfs p.R1825fs RELN_ENST00000343529.5_Frame_Shift_Ins_p.R1825fs|RELN_ENST00000424685.2_Frame_Shift_Ins_p.R1825fs NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1825 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.R1825G(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAGATTCCCCCTCTCTGCACCA 0.411 46 68 --- --- --- --- ANKRD20A1 84210 broad.mit.edu 37 9 67934791 67934794 + Frame_Shift_Del DEL AAAG AAAG - TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr9:67934791_67934794delAAAG ENST00000377477.2 + 4 673_676 c.561_564delAAAG c.(559-564)aaaaagfs p.KK187fs NM_032250.3 NP_115626.2 ankyrin repeat domain 20 family, member A1 kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 11 TTTTATTGAAAAAGAAAGCAAGTT 0.309 3 4 --- --- --- --- CCL17 6361 broad.mit.edu 37 16 57447877 57447879 + In_Frame_Del DEL CCT CCT - TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:57447877_57447879delCCT ENST00000219244.4 + 2 162_164 c.33_35delCCT c.(31-36)accctc>acc p.L14del NM_002987.2 NP_002978.1 Q92583 CCL17_HUMAN chemokine (C-C motif) ligand 17 14 cell-cell signaling|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|multicellular organismal development extracellular space chemokine activity breast(1)|endometrium(1)|lung(2)|ovary(1) 5 CCCTGGTCACCCTCCTCCTGGGG 0.660 6 9 --- --- --- --- C16orf74 404550 broad.mit.edu 37 16 85743879 85743881 + In_Frame_Del DEL GCT GCT - TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr16:85743879_85743881delGCT ENST00000602583.1 - 1 575_577 c.25_27delAGC c.(25-27)agcdel p.S9del C16orf74_ENST00000602758.1_Intron|C16orf74_ENST00000602719.1_In_Frame_Del_p.S21del|C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000284245.4_In_Frame_Del_p.S21del|C16orf74_ENST00000602914.1_Intron Q96GX8 CP074_HUMAN chromosome 16 open reading frame 74 21 CCTCGTCGTGGCTGCTGCTGCTG 0.635 3 6 --- --- --- --- EPOR 2057 broad.mit.edu 37 19 11489438 11489440 + In_Frame_Del DEL TCT TCT - TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:11489438_11489440delTCT ENST00000592375.2 - 7 946_948 c.842_844delAGA c.(841-846)aagatc>atc p.K281del EPOR_ENST00000222139.6_In_Frame_Del_p.K281del P19235 EPOR_HUMAN erythropoietin receptor 281 extracellular region|integral to plasma membrane erythropoietin receptor activity|identical protein binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) CCAGGCCAGATCTTCTGCTTCAG 0.517 11 76 --- --- --- --- ZNF724P 440519 broad.mit.edu 37 19 23405454 23405454 + Frame_Shift_Del DEL C C - TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:23405454delC ENST00000418100.1 - 4 1710 c.1593delG c.(1591-1593)gagfs p.E531fs endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 TGTAGGGTTTCTCTCCAGCAT 0.363 10 60 --- --- --- --- FCGBP 8857 broad.mit.edu 37 19 40376912 40376912 + Frame_Shift_Del DEL G G - TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:40376912delG ENST00000221347.6 - 24 11517 c.11510delC c.(11509-11511)ccgfs p.P3838fs FCGBP_ENST00000595713.1_5'UTR NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 3838 VWFD 9. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCTCCCCGGCGGGCAGGTGGG 0.657 29 34 --- --- --- --- ZNF285 26974 broad.mit.edu 37 19 44891852 44891853 + Frame_Shift_Del DEL GA GA - TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:44891852_44891853delGA ENST00000330997.4 - 4 618_619 c.554_555delTC c.(553-555)ctcfs p.L185fs CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Frame_Shift_Del_p.L192fs|ZNF285_ENST00000544719.2_Frame_Shift_Del_p.L185fs NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 AGGTCCAACTGAGGCTGTCATC 0.455 19 198 --- --- --- --- ZNF544 27300 broad.mit.edu 37 19 58773128 58773128 + Frame_Shift_Del DEL G G - TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chr19:58773128delG ENST00000269829.4 + 7 1630 c.1156delG c.(1156-1158)gggfs p.G386fs ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000599953.1_Frame_Shift_Del_p.G244fs|ZNF544_ENST00000600044.1_Frame_Shift_Del_p.G358fs|CTD-3138B18.5_ENST00000597230.1_RNA|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000415203.2_Frame_Shift_Del_p.G358fs|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596652.1_Frame_Shift_Del_p.G386fs|ZNF544_ENST00000600220.1_Frame_Shift_Del_p.G358fs|ZNF544_ENST00000596825.1_3'UTR NM_014480.2 NP_055295.2 Q6NX49 ZN544_HUMAN zinc finger protein 544 386 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) TACTCAGTGTGGGAAATCTTT 0.463 37 116 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44894227 44894227 + Frame_Shift_Del DEL G G - TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:44894227delG ENST00000377967.4 + 7 657 c.616delG c.(616-618)gaafs p.E206fs KDM6A_ENST00000382899.4_Frame_Shift_Del_p.E206fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.E206fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.E206fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 206 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(12)|p.0?(6)|p.?(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 GTCCAATGCTGAAAGTAAGTA 0.338 """D, N, F, S""" """renal, oesophageal SCC, MM""" 24 103 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44922690 44922702 + Frame_Shift_Del DEL GGTACGATCTACT GGTACGATCTACT - TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d04546e-a5a0-412d-8d2d-0534be81c44b 0ecb9d0e-a9ca-40e1-bff6-fd3a754b1f5f g.chrX:44922690_44922702delGGTACGATCTACT ENST00000377967.4 + 16 1592_1604 c.1551_1563delGGTACGATCTACT c.(1549-1563)caggtacgatctactfs p.QVRST517fs KDM6A_ENST00000382899.4_Frame_Shift_Del_p.QVRST524fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.QVRST472fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.QVRST438fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 517 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2)|p.R519*(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 GAGTTGCACAGGTACGATCTACTGGAATTCCTA 0.465 """D, N, F, S""" """renal, oesophageal SCC, MM""" 20 63 --- --- --- ---