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 FSIP2 401024 broad.mit.edu 37 2 186680137 186680137 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:186680137T>A ENST00000343098.5 + 19 20632 c.20632T>A c.(20632-20634)Ttc>Atc p.F6878I FSIP2_ENST00000424728.1_Missense_Mutation_p.F6789I NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 AACACATTACTTCATACACAG 0.308000 4 32 0 0 0.000248 0 0 RPAP2 79871 broad.mit.edu 37 1 92789427 92789427 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:92789427G>A ENST00000370343.3 + 8 1059 c.950G>A c.(949-951)aGt>aAt p.S317N RPAP2_ENST00000484158.1_3'UTR NM_024813.2 NP_079089.2 Q8IXW5 RPAP2_HUMAN RNA polymerase II associated protein 2 317 integral to membrane|nucleus metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 22 all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222) all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115) AATTCTGAAAGTGAATACAGT 0.343000 15 45 0 0 0.002450 0 0 SCNN1G 6340 broad.mit.edu 37 16 23203735 23203735 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:23203735G>T ENST00000300061.2 + 4 824 c.681G>T c.(679-681)caG>caT p.Q227H NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 227 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) ATGCCATTCAGGAGTGGTATA 0.502000 8 54 3.09899e-07 4.68322e-07 0.004482 1 0 DCBLD1 285761 broad.mit.edu 37 6 117864336 117864336 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:117864336G>T ENST00000338728.5 + 12 1527 c.1407G>T c.(1405-1407)ctG>ctT p.L469L GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Silent_p.L469L|DCBLD1_ENST00000368503.4_Silent_p.L270L|DCBLD1_ENST00000534777.1_Intron Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 469 cell adhesion integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) TTGTTGTCCTGGTGTTTGCTG 0.378000 20 71 3.62473e-10 6.26428e-10 0.001882 1 0 ZIC4 84107 broad.mit.edu 37 3 147120558 147120558 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:147120558C>A ENST00000383075.3 - 2 539 c.27G>T c.(25-27)atG>atT p.M9I ZIC4_ENST00000491672.1_Missense_Mutation_p.M9I|ZIC4_ENST00000473123.1_Missense_Mutation_p.M9I|ZIC4_ENST00000425731.3_Missense_Mutation_p.M47I|ZIC4_ENST00000484399.1_Missense_Mutation_p.M9I|ZIC4_ENST00000525172.2_Missense_Mutation_p.M59I NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 9 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 ATCGTTTCCTCATCACCAAGG 0.378000 18 40 1.64113e-05 2.2528e-05 0.001523 1 0 BCHE 590 broad.mit.edu 37 3 165547336 165547336 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:165547336C>T ENST00000264381.3 - 2 1652 c.1486G>A c.(1486-1488)Gtg>Atg p.V496M BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 496 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) CACCGTTTCACTATGGATCTA 0.393000 7 38 0 0 0.003080 0 0 FEM1B 10116 broad.mit.edu 37 15 68582377 68582377 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:68582377C>A ENST00000306917.4 + 2 1296 c.681C>A c.(679-681)gcC>gcA p.A227A NM_015322.3 NP_056137.1 Q9UK73 FEM1B_HUMAN fem-1 homolog b (C. elegans) 227 apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 AAGTAGCTGCCGAAAGCTGTA 0.473000 12 36 0.00010058 0.000127426 0.001368 1 0 PZP 5858 broad.mit.edu 37 12 9356398 9356398 + Missense_Mutation SNP G G A rs150991757 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:9356398G>A ENST00000261336.2 - 2 261 c.233C>T c.(232-234)gCg>gTg p.A78V 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 GTCCTTCTCCGCCACCAGGTC 0.512000 19 61 0 0 0.007413 0 0 USP18 11274 broad.mit.edu 37 22 18640461 18640461 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr22:18640461A>G ENST00000215794.7 + 2 461 c.31A>G c.(31-33)Atc>Gtc p.I11V NM_017414.3 NP_059110.2 Q9UMW8 UBP18_HUMAN ubiquitin specific peptidase 18 11 regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process cytosol|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1) 10 CCTGAGGCAAATCTGTCAGTC 0.572000 OREG0026287 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 199 0 0 0.002836 0 0 KRT13 3860 broad.mit.edu 37 17 39661464 39661464 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:39661464G>A ENST00000246635.3 - 1 385 c.339C>T c.(337-339)gaC>gaT p.D113D KRT13_ENST00000587544.1_Silent_p.D113D|KRT13_ENST00000336861.3_Silent_p.D113D NM_153490.2 NP_705694.2 P13646 K1C13_HUMAN keratin 13 113 Coil 1A.|Rod. epidermis development intermediate filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 33 Breast(137;0.000286) AAGCCAGGCGGTCGTTGAGGT 0.587000 19 78 0 0 0.008871 0 0 KRT6B 3854 broad.mit.edu 37 12 52843418 52843418 + Splice_Site SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:52843418C>T ENST00000252252.3 - 5 960 c.e5-1 NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) GGGACAGCTCCTGCAGAACAG 0.512000 17 82 0 0 0.004007 0 0 USP28 57646 broad.mit.edu 37 11 113712397 113712397 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:113712397C>A ENST00000003302.4 - 4 430 c.362G>T c.(361-363)aGa>aTa p.R121I USP28_ENST00000542033.1_5'UTR|USP28_ENST00000545540.1_5'UTR|USP28_ENST00000537706.1_Missense_Mutation_p.R121I|USP28_ENST00000260188.5_Missense_Mutation_p.R121I NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 121 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) GTTAAGATCTCTTCCATCAGC 0.393000 5 67 2.0095e-06 2.89402e-06 0.001984 1 0 FGD4 121512 broad.mit.edu 37 12 32786555 32786555 + Missense_Mutation SNP A A C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:32786555A>C ENST00000427716.2 + 15 2258 c.1834A>C c.(1834-1836)Aaa>Caa p.K612Q FGD4_ENST00000525053.1_Missense_Mutation_p.K724Q|FGD4_ENST00000546442.1_Missense_Mutation_p.K519Q|FGD4_ENST00000534526.2_Missense_Mutation_p.K749Q|FGD4_ENST00000266482.3_Missense_Mutation_p.K364Q|FGD4_ENST00000531134.1_Missense_Mutation_p.K697Q NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 612 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) CAAAGTTTGTAAAGACTGTTA 0.299000 9 30 0 0 0.004482 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 3 11 0 0 0.000248 0 0 PRR5 55615 broad.mit.edu 37 22 45132666 45132666 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr22:45132666C>T ENST00000403581.1 + 10 1384 c.775C>T c.(775-777)Cgc>Tgc p.R259C PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000336985.6_Missense_Mutation_p.R236C|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Intron NM_001198721.1 NP_001185650.1 proline rich 5 (renal) central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1) 11 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) GCGCCTCCTCCGCCGCTCCCG 0.677000 10 78 0 0 0.006214 0 0 PSME4 23198 broad.mit.edu 37 2 54147481 54147481 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:54147481C>T ENST00000404125.1 - 19 2324 c.2269G>A c.(2269-2271)Ggc>Agc p.G757S PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 757 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CCGGGTTTGCCCCAGTCCTAG 0.393000 10 55 0 0 0.000978 0 0 DCC 1630 broad.mit.edu 37 18 50451740 50451740 + Splice_Site SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:50451740G>T ENST00000442544.2 + 5 1601 c.985_splice c.e5+1 p.V329_splice DCC_ENST00000412726.1_Splice_Site_p.V177_splice NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 329 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CACAGTCTTGGGTAAGTTAGT 0.373000 11 56 2.27111e-07 3.43984e-07 0.001368 1 0 MYH11 4629 broad.mit.edu 37 16 15826436 15826436 + Silent SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:15826436A>T ENST00000338282.6 - 27 3742 c.3636T>A c.(3634-3636)ctT>ctA p.L1212L MYH11_ENST00000452625.2_Silent_p.L1219L|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000576790.1_Silent_p.L1212L|MYH11_ENST00000300036.5_Silent_p.L1212L|MYH11_ENST00000396324.3_Silent_p.L1219L NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1212 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 TGAACTGCTCAAGCTGCTCTG 0.517000 T CBFB AML 17 132 0 0 0.006122 0 0 CPB1 1360 broad.mit.edu 37 3 148558715 148558715 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:148558715A>T ENST00000491148.1 + 6 761 c.427A>T c.(427-429)Agt>Tgt p.S143C CPB1_ENST00000282957.4_Missense_Mutation_p.S143C P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 143 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CATCTCTCGCAGTGTTATCGG 0.438000 10 39 0 0 0.008291 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227300084 227300084 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:227300084T>C ENST00000366769.3 - 14 3221 c.1930A>G c.(1930-1932)Aaa>Gaa p.K644E CDC42BPA_ENST00000366767.3_Missense_Mutation_p.K563E|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.K644E|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.K644E|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.K644E|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.K644E|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.K644E NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 644 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) TTCCTGTCTTTAGATGCTTCA 0.363000 20 77 0 0 0.003330 0 0 FAT4 79633 broad.mit.edu 37 4 126337697 126337697 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:126337697G>T ENST00000394329.3 + 6 6951 c.6938G>T c.(6937-6939)aGt>aTt p.S2313I FAT4_ENST00000335110.5_Missense_Mutation_p.S611I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2313 Cadherin 22. 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 CTCTCAGCCAGTGGAGAACTT 0.433000 10 82 4.68919e-08 7.41905e-08 0.008291 1 0 KCTD3 51133 broad.mit.edu 37 1 215775296 215775296 + Splice_Site SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:215775296G>C ENST00000259154.4 + 11 1315 c.1021_splice c.e11+1 p.D341_splice NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 341 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) ATATTACATAGGTAAGTGTTC 0.313000 8 18 0 0 0.003080 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140723874 140723874 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:140723874C>A ENST00000253812.6 + 1 274 c.274C>A c.(274-276)Cgg>Agg p.R92R PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGATAGACCGGGAGGAGCT 0.498000 10 46 0.00621372 0.00688823 0.006214 1 0 ACSM2B 348158 broad.mit.edu 37 16 20554585 20554585 + Splice_Site SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:20554585C>A ENST00000329697.6 - 11 1450 c.e11-1 ACSM2B_ENST00000565232.1_Splice_Site|ACSM2B_ENST00000567001.1_Splice_Site|ACSM2B_ENST00000565322.1_Splice_Site NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CGGGATTTTCCTGGTGACCAC 0.483000 20 119 9.57634e-11 1.70302e-10 0.003330 1 0 TRBV3-1 28619 broad.mit.edu 37 7 142008760 142008760 + RNA SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:142008760C>A ENST00000390387.3 + 0 280 ATAAATGAAACAGTTCCAAAT 0.373000 9 64 0.00448238 0.005069 0.004482 1 0 NCAN 1463 broad.mit.edu 37 19 19344651 19344651 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:19344651G>C ENST00000252575.5 + 9 3116 c.3073G>C c.(3073-3075)Gcc>Ccc p.A1025P NCAN_ENST00000538881.1_Missense_Mutation_p.A476P NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 1025 EGF-like 1. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GACATGTAATGCCAATGGCAC 0.517000 18 40 0 0 0.001523 0 0 EFCAB12 90288 broad.mit.edu 37 3 129130082 129130082 + Silent SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:129130082C>G ENST00000505956.1 - 5 1116 c.954G>C c.(952-954)acG>acC p.T318T EFCAB12_ENST00000326085.3_Silent_p.T318T NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 TCTCCATCTGCGTGTCGACTG 0.622000 6 11 0 0 0.001168 0 0 PRR5 55615 broad.mit.edu 37 22 45132667 45132667 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr22:45132667G>T ENST00000403581.1 + 10 1385 c.776G>T c.(775-777)cGc>cTc p.R259L PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000336985.6_Missense_Mutation_p.R236L|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Intron NM_001198721.1 NP_001185650.1 proline rich 5 (renal) central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1) 11 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) CGCCTCCTCCGCCGCTCCCGC 0.677000 10 78 2.52707e-12 4.67924e-12 0.006214 1 0 APAF1 317 broad.mit.edu 37 12 99102470 99102470 + Silent SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:99102470A>T ENST00000357310.1 + 19 3277 c.2700A>T c.(2698-2700)atA>atT p.I900I APAF1_ENST00000333991.1_Intron|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000550527.1_Silent_p.I932I|APAF1_ENST00000547045.1_Silent_p.I900I|APAF1_ENST00000549007.1_Silent_p.I900I|APAF1_ENST00000339433.3_Silent_p.I900I|APAF1_ENST00000551964.1_Silent_p.I943I|APAF1_ENST00000359972.2_Silent_p.I889I NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 943 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) TTGACCATATAAGACGTCTGC 0.328000 5 14 0 0 0.000602 0 0 NCOA1 8648 broad.mit.edu 37 2 24888641 24888641 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:24888641A>G ENST00000405141.1 + 7 824 c.113A>G c.(112-114)cAa>cGa p.Q38R NCOA1_ENST00000538539.1_Missense_Mutation_p.Q38R|NCOA1_ENST00000288599.5_Missense_Mutation_p.Q38R|NCOA1_ENST00000406961.1_Missense_Mutation_p.Q38R|NCOA1_ENST00000348332.3_Missense_Mutation_p.Q38R|NCOA1_ENST00000395856.3_Missense_Mutation_p.Q38R|NCOA1_ENST00000407230.1_Intron Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 38 Helix-loop-helix motif. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGCAGGGAGCAAGAAAATAAA 0.373000 T PAX3 alveolar rhadomyosarcoma 6 31 0 0 0.001168 0 0 OR5K3 403277 broad.mit.edu 37 3 98109761 98109761 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:98109761C>G ENST00000383695.1 + 1 252 c.252C>G c.(250-252)aaC>aaG p.N84K RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 TGTTAGAGAACTTCTTTTCTG 0.403000 40 188 0 0 0.002852 0 0 C1orf173 127254 broad.mit.edu 37 1 75065539 75065539 + Missense_Mutation SNP T T G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:75065539T>G ENST00000326665.5 - 11 1784 c.1566A>C c.(1564-1566)caA>caC p.Q522H RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.Q325H NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 522 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TTCCATTCATTTGAACATCAG 0.388000 20 118 0 0 0.008871 0 0 HS6ST3 266722 broad.mit.edu 37 13 97485066 97485066 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:97485066A>T ENST00000376705.2 + 2 1054 c.1030A>T c.(1030-1032)Aac>Tac p.N344Y NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 344 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) TGCAAAGAACAACCTGAAGAA 0.488000 9 51 0 0 0.008291 0 0 WEE2 494551 broad.mit.edu 37 7 141418964 141418964 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:141418964C>A ENST00000397541.2 + 4 1084 c.678C>A c.(676-678)gtC>gtA p.V226V WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 226 Protein kinase. egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) TTGGTACAGTCTACAAGTGCA 0.373000 16 50 2.31682e-05 3.14826e-05 0.003163 1 0 CLCA2 9635 broad.mit.edu 37 1 86919061 86919061 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:86919061A>T ENST00000370565.4 + 13 2327 c.2165A>T c.(2164-2166)cAg>cTg p.Q722L CLCA2_ENST00000498802.1_3'UTR NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 722 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) GGTAATATTCAGATGAATGCT 0.413000 7 45 0 0 0.003080 0 0 TRMT2A 27037 broad.mit.edu 37 22 20104030 20104030 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr22:20104030T>C ENST00000252136.7 - 2 518 c.130A>G c.(130-132)Aaa>Gaa p.K44E RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000403707.3_Missense_Mutation_p.K44E|TRMT2A_ENST00000404751.3_Missense_Mutation_p.K44E|TRMT2A_ENST00000439169.2_Missense_Mutation_p.K44E 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) 44 RNA processing nucleotide binding|RNA binding|RNA methyltransferase activity breast(2)|endometrium(2)|lung(5) 9 GCGCCCTCTTTCTCCACCTCC 0.642000 7 40 0 0 0.001984 0 0 TRBV27 28560 broad.mit.edu 37 7 142423226 142423226 + RNA SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:142423226A>T ENST00000506718.1 + 0 401 TRBV27_ENST00000390399.3_RNA ATGGGCCCCCAGCTCCTTGGC 0.547000 8 16 0 0 0.006214 0 0 CD300E 342510 broad.mit.edu 37 17 72619802 72619802 + Nonsense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:72619802C>A ENST00000392619.1 - 1 75 c.40G>T c.(40-42)Gga>Tga p.G14* CD300E_ENST00000426295.2_Nonsense_Mutation_p.G28* NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 0 integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 AATCTAGGTCCCAGCTGGAAT 0.502000 13 51 0.00010058 0.000127426 0.001368 1 0 LRRN3 54674 broad.mit.edu 37 7 110764717 110764717 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:110764717T>C ENST00000451085.1 + 4 2935 c.1889T>C c.(1888-1890)aTg>aCg p.M630T IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.M630T|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.M630T|IMMP2L_ENST00000405709.2_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 630 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ACAACACTTATGGCCTGTCTT 0.413000 14 50 0 0 0.002450 0 0 SLC4A4 8671 broad.mit.edu 37 4 72316219 72316219 + Silent SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:72316219T>A ENST00000340595.3 + 7 1231 c.1035T>A c.(1033-1035)atT>atA p.I345I SLC4A4_ENST00000512686.1_Silent_p.I345I|SLC4A4_ENST00000425175.1_Silent_p.I389I|SLC4A4_ENST00000264485.5_Silent_p.I389I|SLC4A4_ENST00000351898.6_Silent_p.I389I|SLC4A4_ENST00000514331.1_3'UTR NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 389 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) ATCCAGCAATTAGGATAGAGC 0.433000 5 19 0 0 0.001168 0 0 ANK2 287 broad.mit.edu 37 4 113970941 113970941 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:113970941T>A ENST00000357077.4 + 1 110 c.57T>A c.(55-57)agT>agA p.S19R ANK2_ENST00000264366.6_Missense_Mutation_p.S19R|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Missense_Mutation_p.S19R|RP11-650J17.1_ENST00000508959.1_RNA NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 19 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) TCAACGGCAGTAGTCAGAGGA 0.418000 4 21 0 0 0.000248 0 0 KRT38 8687 broad.mit.edu 37 17 39596834 39596834 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:39596834G>A ENST00000246646.3 - 1 339 c.340C>T c.(340-342)Cgc>Tgc p.R114C NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 114 Coil 1A.|Rod. intermediate filament structural molecule activity p.R114G(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) TTGGCCAGGCGGTCATTCAGG 0.582000 20 71 0 0 0.008871 0 0 CACNA1A 773 broad.mit.edu 37 19 13423523 13423523 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:13423523C>A ENST00000360228.5 - 12 1627 c.1628G>T c.(1627-1629)cGg>cTg p.R543L CACNA1A_ENST00000573710.2_Missense_Mutation_p.R544L NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 544 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GAAGTAAGGCCGCGTCCCAAG 0.438000 15 41 9.7654e-05 0.000124421 0.007413 1 0 DSG4 147409 broad.mit.edu 37 18 28986078 28986078 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:28986078C>A ENST00000359747.4 + 12 1704 c.1675C>A c.(1675-1677)Cca>Aca p.P559T DSG4_ENST00000308128.4_Missense_Mutation_p.P559T|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 559 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GGTTTTATCTCCAGGATTTTA 0.443000 5 25 0.000602214 0.000718394 0.000602 1 0 C5orf30 90355 broad.mit.edu 37 5 102611912 102611912 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:102611912G>A ENST00000319933.2 + 3 600 c.292G>A c.(292-294)Gca>Aca p.A98T C5orf30_ENST00000510890.1_Missense_Mutation_p.A98T|C5orf30_ENST00000515669.1_Missense_Mutation_p.A98T NM_033211.2 NP_149988.1 Q96GV9 CE030_HUMAN chromosome 5 open reading frame 30 98 NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 9 all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18) Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762) ACAGCTAGATGCAGGACTTGC 0.527000 6 24 0 0 0.001168 0 0 RUNX1T1 862 broad.mit.edu 37 8 92999186 92999186 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:92999186G>T ENST00000523629.1 - 8 1460 c.1006C>A c.(1006-1008)Cgt>Agt p.R336S RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R299S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R347S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R309S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R299S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R336S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R299S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R309S NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 336 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TCTTCTTGACGTGTGCCATGC 0.408000 22 46 1.36565e-18 2.75582e-18 0.002780 1 0 DIO1 1733 broad.mit.edu 37 1 54360012 54360012 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:54360012C>A ENST00000361921.3 + 1 153 c.129C>A c.(127-129)gcC>gcA p.A43A DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000532493.1_Silent_p.A43A|DIO1_ENST00000388876.3_Silent_p.A43A|DIO1_ENST00000322679.6_Silent_p.A43A|DIO1_ENST00000525202.1_Silent_p.A43A|DIO1_ENST00000524406.1_Intron NM_000792.5|NM_213593.3 NP_000783.2|NP_998758.1 P49895 IOD1_HUMAN deiodinase, iodothyronine, type I 43 hormone biosynthetic process|thyroid hormone generation endoplasmic reticulum membrane|integral to membrane|plasma membrane selenium binding|thyroxine 5'-deiodinase activity cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1) 9 ACATCCTGGCCATGGGCGAGA 0.522000 25 88 6.32553e-13 1.1909e-12 0.004656 1 0 COL4A6 1288 broad.mit.edu 37 X 107417713 107417713 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:107417713C>A ENST00000334504.7 - 31 3328 c.3095G>T c.(3094-3096)gGg>gTg p.G1032V COL4A6_ENST00000545689.1_Missense_Mutation_p.G1032V|COL4A6_ENST00000538570.1_Missense_Mutation_p.G1032V|COL4A6_ENST00000372216.4_Missense_Mutation_p.G1033V|COL4A6_ENST00000394872.2_Missense_Mutation_p.G1033V NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 1033 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CCCAGAGGACCCCTTCAGGCC 0.557000 Alport syndrome with Diffuse Leiomyomatosis 18 33 1.00905e-13 1.94314e-13 0.008871 1 0 LRFN2 57497 broad.mit.edu 37 6 40400436 40400436 + Silent SNP G G T rs139467631 by1000genomes TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:40400436G>T ENST00000338305.6 - 2 959 c.417C>A c.(415-417)atC>atA p.I139I NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 139 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTCATCTGCGATGCCGCCCA 0.592000 10 19 1.58986e-06 2.2995e-06 0.008291 1 0 YBX3 8531 broad.mit.edu 37 12 10870707 10870707 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:10870707C>T ENST00000228251.4 - 3 540 c.340G>A c.(340-342)Gaa>Aaa p.E114K YBX3_ENST00000279550.7_Missense_Mutation_p.E114K NM_003651.4 NP_003642.3 Y box binding protein 3 AATACATCTTCTTTGGTGTCA 0.353000 11 26 0 0 0.001368 0 0 MYO1C 4641 broad.mit.edu 37 17 1384168 1384168 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:1384168C>A ENST00000359786.5 - 6 963 c.639G>T c.(637-639)gtG>gtT p.V213V MYO1C_ENST00000545534.2_Silent_p.V189V|MYO1C_ENST00000438665.2_Silent_p.V194V|MYO1C_ENST00000573198.1_5'UTR|MYO1C_ENST00000575158.1_Silent_p.V178V|MYO1C_ENST00000361007.2_Silent_p.V178V NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 213 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TGTGGCCACCCACGGGGGCAC 0.632000 5 61 1.76689e-08 2.83544e-08 0.006214 1 0 HDC 3067 broad.mit.edu 37 15 50534993 50534993 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:50534993G>T ENST00000267845.3 - 12 1855 c.1453C>A c.(1453-1455)Cct>Act p.P485T HDC_ENST00000543581.1_Missense_Mutation_p.P452T NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 485 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CCAACCCGAGGGCTGGGTTGG 0.557000 6 20 5.9392e-07 8.75935e-07 0.001168 1 0 CLDN1 9076 broad.mit.edu 37 3 190030679 190030679 + Missense_Mutation SNP C C T rs140846629 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:190030679C>T ENST00000295522.3 - 2 638 c.370G>A c.(370-372)Gcg>Acg p.A124T NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 124 calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) AGAAATATCGCACCCCCAATG 0.458000 25 94 0 0 0.003330 0 0 MDH1B 130752 broad.mit.edu 37 2 207619827 207619827 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:207619827G>A ENST00000374412.3 - 5 1091 c.816C>T c.(814-816)gcC>gcT p.A272A MDH1B_ENST00000449792.1_Silent_p.A174A|MDH1B_ENST00000454776.2_Silent_p.A272A|MDH1B_ENST00000392214.2_Intron NM_001039845.1 NP_001034934.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 272 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) CAATGCGTGGGGCATATCTCA 0.478000 15 48 0 0 0.004990 0 0 FGD4 121512 broad.mit.edu 37 12 32735171 32735171 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:32735171G>C ENST00000427716.2 + 4 794 c.370G>C c.(370-372)Gat>Cat p.D124H FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000472289.1_Missense_Mutation_p.D124H|FGD4_ENST00000525053.1_Missense_Mutation_p.D236H|FGD4_ENST00000546442.1_Missense_Mutation_p.D31H|FGD4_ENST00000531134.1_Missense_Mutation_p.D209H|FGD4_ENST00000534526.2_Missense_Mutation_p.D261H NM_139241.2 NP_640334.2 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 124 Actin filament-binding (By similarity). 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) ACCCTTGCTTGATACGCACAT 0.468000 5 65 0 0 0.000602 0 0 OR2L2 26246 broad.mit.edu 37 1 248202461 248202461 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:248202461G>T ENST00000366479.2 + 1 988 c.892G>T c.(892-894)Ggg>Tgg p.G298W OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GGAGGTGATGGGGGCCCTGAC 0.458000 12 69 5.16669e-11 9.21256e-11 0.000978 1 0 KRT10 3858 broad.mit.edu 37 17 38978715 38978715 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:38978715G>T ENST00000269576.5 - 1 132 c.123C>A c.(121-123)ggC>ggA p.G41G TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron NM_000421.3 NP_000412.3 P13645 K1C10_HUMAN keratin 10 41 Gly-rich.|Head. epidermis development protein binding|structural constituent of epidermis NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(137;0.000301) CACCAAGGGAGCCTTTGCTGC 0.582000 9 30 0.000274275 0.000337338 0.004482 1 0 SNTG1 54212 broad.mit.edu 37 8 51449274 51449274 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:51449274G>T ENST00000522124.1 + 11 1247 c.586G>T c.(586-588)Ggc>Tgc p.G196C SNTG1_ENST00000518864.1_Missense_Mutation_p.G196C|SNTG1_ENST00000517473.1_Missense_Mutation_p.G196C|SNTG1_ENST00000276467.5_Missense_Mutation_p.G196C NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 196 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GACGTCTCCAGGCTTGAGGTG 0.473000 12 112 3.07112e-06 4.36695e-06 0.000978 1 0 CPE 1363 broad.mit.edu 37 4 166405732 166405732 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:166405732G>T ENST00000402744.4 + 5 1229 c.949G>T c.(949-951)Ggt>Tgt p.G317C NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 317 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) CACCAACGGTGGTGCTTGGTA 0.463000 35 179 1.36615e-20 2.78182e-20 0.002836 1 0 MYOD1 4654 broad.mit.edu 37 11 17741497 17741497 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:17741497C>T ENST00000250003.3 + 1 383 c.168C>T c.(166-168)ctC>ctT p.L56L NM_002478.4 NP_002469.2 P15172 MYOD1_HUMAN myogenic differentiation 1 56 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development nuclear chromatin|transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 17 TGGGCGCGCTCCTGAAACCCG 0.687000 5 17 0 0 0.000602 0 0 VN1R4 317703 broad.mit.edu 37 19 53770573 53770573 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:53770573A>T ENST00000311170.4 - 1 399 c.346T>A c.(346-348)Tgg>Agg p.W116R NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 116 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) AGTTTTGCCCACCTGGATTTC 0.493000 HNSCC(26;0.072) 4 34 0 0 0.000602 0 0 EFCAB3 146779 broad.mit.edu 37 17 60460396 60460396 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:60460396C>G ENST00000450662.2 + 4 283 c.212C>G c.(211-213)cCc>cGc p.P71R EFCAB3_ENST00000305286.3_Missense_Mutation_p.P19R NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 19 EF-hand 1. calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) ACAAAAGTACCCATCTCCCAC 0.323000 7 25 0 0 0.001984 0 0 OR5A1 219982 broad.mit.edu 37 11 59210776 59210776 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:59210776C>A ENST00000302030.2 + 1 160 c.135C>A c.(133-135)aaC>aaA p.N45K NM_001004728.1 NP_001004728.1 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, member 1 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 28 TGGCCTGGAACCTGGCCCTCA 0.498000 4 74 0.00024832 0.000308796 0.000248 1 0 CACNA1A 773 broad.mit.edu 37 19 13423524 13423524 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:13423524G>A ENST00000360228.5 - 12 1626 c.1627C>T c.(1627-1629)Cgg>Tgg p.R543W CACNA1A_ENST00000573710.2_Missense_Mutation_p.R544W NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 544 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) AAGTAAGGCCGCGTCCCAAGC 0.438000 15 40 0 0 0.006122 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51629378 51629378 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:51629378C>A ENST00000440804.3 + 3 808 c.741C>A c.(739-741)gaC>gaA p.D247E SIGLEC9_ENST00000250360.3_Missense_Mutation_p.D247E NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 247 Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) TCCAAGGAGACGGCACAGGTA 0.597000 9 36 1.33987e-11 2.44074e-11 0.008291 1 0 STC2 8614 broad.mit.edu 37 5 172745171 172745171 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:172745171C>T ENST00000265087.4 - 4 1897 c.588G>A c.(586-588)caG>caA p.Q196Q NM_003714.2 NP_003705.1 O76061 STC2_HUMAN stanniocalcin 2 196 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TCTGCTCACACTGAACCTGCA 0.612000 11 13 0 0 0.000978 0 0 OR5B21 219968 broad.mit.edu 37 11 58275275 58275275 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:58275275A>T ENST00000360374.2 - 1 303 c.304T>A c.(304-306)Ttt>Att p.F102I NM_001005218.1 NP_001005218.1 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, member 21 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F102delF(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) AACCCCACAAAGAAGAAGAAC 0.547000 7 13 0 0 0.001984 0 0 ARMC5 79798 broad.mit.edu 37 16 31476359 31476359 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:31476359A>T ENST00000457010.2 + 4 2716 c.2015A>T c.(2014-2016)cAg>cTg p.Q672L ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Intron|ARMC5_ENST00000538189.1_Intron|ARMC5_ENST00000563544.1_Intron|ARMC5_ENST00000408912.3_Intron NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 480 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GGTGGGGAGCAGGGCGTTCCA 0.642000 10 34 0 0 0.008291 0 0 DCDC1 341019 broad.mit.edu 37 11 30914539 30914539 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:30914539G>A ENST00000597505.1 - 34 4898 c.4899C>T c.(4897-4899)caC>caT p.H1633H DCDC1_ENST00000406071.2_Silent_p.H371H P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TTTCAGAAAGGTGTGCCTGTC 0.373000 19 45 0 0 0.006122 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33614446 33614446 + Silent SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:33614446A>G ENST00000504830.1 - 16 2759 c.2424T>C c.(2422-2424)taT>taC p.Y808Y ADAMTS12_ENST00000352040.3_Silent_p.Y723Y|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 808 Spacer 1. 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 TTGTGTACTCATACTTGATGC 0.468000 HNSCC(64;0.19) 4 46 0 0 0.000248 0 0 MID2 11043 broad.mit.edu 37 X 107170202 107170202 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:107170202G>T ENST00000262843.6 + 10 2655 c.2107G>T c.(2107-2109)Ggc>Tgc p.G703C MID2_ENST00000443968.2_Missense_Mutation_p.G673C|RP6-191P20.4_ENST00000430140.1_RNA NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 703 B30.2/SPRY. centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 GATCCTGTCTGGCTTGCCTGC 0.443000 19 42 3.99206e-14 7.73174e-14 0.007413 1 0 GABRQ 55879 broad.mit.edu 37 X 151821180 151821180 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:151821180C>A ENST00000370306.2 + 9 1355 c.1335C>A c.(1333-1335)gcC>gcA p.A445A NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 445 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) CCCCCCTGGCCACTGGAGAAA 0.592000 34 73 3.90053e-15 7.66459e-15 0.002445 1 0 OR6K3 391114 broad.mit.edu 37 1 158687441 158687441 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:158687441G>A ENST00000368146.1 - 1 512 c.513C>T c.(511-513)atC>atT p.I171I OR6K3_ENST00000368145.1_Silent_p.I155I Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) CGGGAAGCAGGATAAGGAAAC 0.522000 11 68 0 0 0.000978 0 0 NETO1 81832 broad.mit.edu 37 18 70461640 70461640 + Splice_Site SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:70461640C>A ENST00000327305.6 - 5 1127 c.e5-1 NETO1_ENST00000583169.1_Splice_Site|NETO1_ENST00000299430.2_Splice_Site NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) AAGTCAGGATCTTAAAAATTG 0.294000 12 53 5.50884e-06 7.76769e-06 0.001368 1 0 APOBR 55911 broad.mit.edu 37 16 28509075 28509075 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:28509075G>A ENST00000564831.1 + 2 2746 c.2713G>A c.(2713-2715)Ggg>Agg p.G905R APOBR_ENST00000431282.1_Missense_Mutation_p.G896R|APOBR_ENST00000328423.5_Missense_Mutation_p.G896R NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 896 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 GGGGCGGTGTGGGGACTACCA 0.617000 5 7 0 0 0.001168 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872426 51872426 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:51872426C>A ENST00000371497.5 + 2 3316 c.2429C>A c.(2428-2430)cCa>cAa p.P810Q TSHZ2_ENST00000329613.6_Missense_Mutation_p.P807Q|TSHZ2_ENST00000603338.2_Missense_Mutation_p.P807Q NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 810 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) ACCCCAAAGCCAGCCTCCTCC 0.542000 6 62 0.00116845 0.00136487 0.001168 1 0 KIAA1549L 25758 broad.mit.edu 37 11 33589742 33589742 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:33589742G>A ENST00000321505.4 + 8 3488 c.3308G>A c.(3307-3309)cGg>cAg p.R1103Q KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1109Q|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.R1109Q KIAA1549-like CGGTTTAAACGGGCCACCACC 0.587000 3 18 0 0 0.004672 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134526329 134526329 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:134526329C>A ENST00000372195.1 - 2 312 c.69G>T c.(67-69)caG>caT p.Q23H RAPGEF1_ENST00000372190.3_Missense_Mutation_p.Q24H|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.Q6H Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 6 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) GATGAGAACGCTGAGAGTCTG 0.463000 15 34 0.000219431 0.000274391 0.002450 1 0 CA6 765 broad.mit.edu 37 1 9034716 9034716 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:9034716C>T ENST00000377443.2 + 8 884 c.880C>T c.(880-882)Cat>Tat p.H294Y CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Missense_Mutation_p.H234Y NM_001215.3 NP_001206.2 P23280 CAH6_HUMAN carbonic anhydrase VI 294 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5) 16 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) GTTTTACCTACATAAGATTGA 0.378000 4 20 0 0 0.000248 0 0 ABCG8 64241 broad.mit.edu 37 2 44100965 44100965 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:44100965C>A ENST00000272286.2 + 9 1341 c.1251C>A c.(1249-1251)ctC>ctA p.L417L NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 417 ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGCCCACCCTCCTCATCCATG 0.557000 14 133 4.3838e-07 6.59527e-07 0.001855 1 0 HGFAC 3083 broad.mit.edu 37 4 3444599 3444599 + Silent SNP G G A rs140087184 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:3444599G>A ENST00000382774.3 + 2 373 c.258G>A c.(256-258)ccG>ccA p.P86P HGFAC_ENST00000511533.1_Silent_p.P86P NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 86 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TCCCGCCCCCGCCCAGGGCAG 0.667000 12 22 0 0 0.001855 0 0 TCHHL1 126637 broad.mit.edu 37 1 152057599 152057599 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:152057599G>T ENST00000368806.1 - 3 2623 c.2559C>A c.(2557-2559)agC>agA p.S853R NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 853 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GTGATGCTTGGCTGTAGTTGA 0.498000 18 80 6.49762e-13 1.21989e-12 0.006122 1 0 SRGAP3 9901 broad.mit.edu 37 3 9102045 9102045 + Splice_Site SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:9102045T>A ENST00000383836.3 - 6 1100 c.e6-2 SRGAP3_ENST00000433332.3_Splice_Site|SRGAP3_ENST00000360413.3_Splice_Site NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GGCCTGCCTCTGGAAGAAGAA 0.433000 T RAF1 pilocytic astrocytoma 12 47 0 0 0.001368 0 0 RYR2 6262 broad.mit.edu 37 1 237995900 237995900 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:237995900C>A ENST00000366574.2 + 105 15174 c.14857C>A c.(14857-14859)Cca>Aca p.P4953T RYR2_ENST00000360064.6_Missense_Mutation_p.P4959T|RYR2_ENST00000542537.1_Missense_Mutation_p.P4937T|RYR2_ENST00000462585.1_3'UTR NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4953 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGAATTTTTCCCAGCAGGGGA 0.418000 7 27 0.00198382 0.00228173 0.001984 1 0 NLRP14 338323 broad.mit.edu 37 11 7079531 7079531 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:7079531C>A ENST00000299481.4 + 8 2829 c.2483C>A c.(2482-2484)aCa>aAa p.T828K NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 828 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TGTGGTCTCACAGAGGCTGGC 0.453000 17 34 1.01871e-10 1.80213e-10 0.008871 1 0 POLQ 10721 broad.mit.edu 37 3 121207919 121207919 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:121207919T>A ENST00000264233.5 - 16 3987 c.3859A>T c.(3859-3861)Aat>Tat p.N1287Y NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1287 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) CTAGAAATATTTAGAAAATTC 0.348000 DNA polymerases (catalytic subunits) 21 56 0 0 0.001882 0 0 TTN 7273 broad.mit.edu 37 2 179464146 179464146 + Missense_Mutation SNP T T G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:179464146T>G ENST00000589042.1 - 290 56598 c.56374A>C c.(56374-56376)Ata>Cta p.I18792L TTN_ENST00000342175.6_Missense_Mutation_p.I9919L|TTN_ENST00000342992.6_Missense_Mutation_p.I16224L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I9852L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I9727L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I17151L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17151 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) TCAAATTTTATGGGTCCCACT 0.363000 12 32 0 0 0.000978 0 0 WNT7A 7476 broad.mit.edu 37 3 13916538 13916538 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:13916538C>A ENST00000285018.4 - 2 508 c.204G>T c.(202-204)atG>atT p.M68I WNT7A_ENST00000497808.1_5'UTR NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 68 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 CGTCCAGGCCCATTTGTGAGC 0.592000 9 22 0.000274275 0.000337338 0.004482 1 0 OR10G8 219869 broad.mit.edu 37 11 123900990 123900990 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:123900990G>T ENST00000431524.1 + 1 694 c.661G>T c.(661-663)Gtc>Ttc p.V221F NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V221I(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TGTGTCCATCGTCTGTTCCAT 0.542000 19 65 2.94398e-08 4.67982e-08 0.007413 1 0 BOLL 66037 broad.mit.edu 37 2 198643703 198643703 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:198643703T>C ENST00000321801.7 - 3 823 c.253A>G c.(253-255)Aaa>Gaa p.K85E BOLL_ENST00000392296.4_Missense_Mutation_p.K73E|BOLL_ENST00000433157.1_Missense_Mutation_p.K73E|BOLL_ENST00000430004.1_Missense_Mutation_p.K73E|BOLL_ENST00000282278.8_Silent_p.P7P NM_197970.2 NP_932074.1 Q8N9W6 BOLL_HUMAN boule-like RNA-binding protein 73 RRM. cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1) 13 ACTAACCCTTTGGATACTCCA 0.353000 6 26 0 0 0.001984 0 0 PEG3 5178 broad.mit.edu 37 19 57328461 57328461 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:57328461A>T ENST00000326441.9 - 10 1712 c.1349T>A c.(1348-1350)aTg>aAg p.M450K ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.M326K|PEG3_ENST00000593695.1_Missense_Mutation_p.M324K|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M450K NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 450 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TACATATGGCATTGCCCCAAA 0.483000 19 95 0 0 0.007413 0 0 TENM4 26011 broad.mit.edu 37 11 78369359 78369359 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:78369359T>A ENST00000278550.7 - 34 8516 c.8054A>T c.(8053-8055)gAg>gTg p.E2685V NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TGCCTTCTCCTCATCCAACGT 0.622000 6 16 0 0 0.001168 0 0 MAP2K5 5607 broad.mit.edu 37 15 67879196 67879196 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:67879196G>T ENST00000178640.5 + 6 1003 c.376G>T c.(376-378)Gcc>Tcc p.A126S MAP2K5_ENST00000354498.5_Missense_Mutation_p.A90S|MAP2K5_ENST00000395476.2_Missense_Mutation_p.A126S|MAP2K5_ENST00000560591.1_3'UTR NM_145160.2 NP_660143.1 Q13163 MP2K5_HUMAN mitogen-activated protein kinase kinase 5 126 Interaction with MAPK7 (By similarity). nerve growth factor receptor signaling pathway ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1) 16 GAATACTCGGGCCGGACCCTC 0.428000 24 73 1.33986e-20 2.73657e-20 0.004656 1 0 RDH12 145226 broad.mit.edu 37 14 68191238 68191238 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:68191238C>A ENST00000551171.1 + 4 441 c.117C>A c.(115-117)ggC>ggA p.G39G RDH12_ENST00000267502.3_Silent_p.G39G|RDH12_ENST00000539142.1_Silent_p.G39G NM_152443.2 NP_689656.2 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 39 photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4) 12 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) AGCTTCCTGGCAAGGTAGTGG 0.537000 13 65 0.000219431 0.000274391 0.002450 1 0 NARG2 79664 broad.mit.edu 37 15 60745778 60745778 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:60745778G>A ENST00000561114.1 - 9 1311 c.1149C>T c.(1147-1149)ccC>ccT p.P383P NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron NM_001276385.1 NP_001263314.1 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 0 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 ATTCCCCTTAGGGGAAAAAAA 0.338000 4 20 0 0 0.000248 0 0 PTPRS 5802 broad.mit.edu 37 19 5265155 5265155 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:5265155C>G ENST00000372412.4 - 5 665 c.432G>C c.(430-432)aaG>aaC p.K144N PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.K144N|PTPRS_ENST00000588012.1_Missense_Mutation_p.K144N|PTPRS_ENST00000353284.2_Missense_Mutation_p.K144N|PTPRS_ENST00000262963.6_Missense_Mutation_p.K144N|PTPRS_ENST00000348075.2_Missense_Mutation_p.K144N|PTPRS_ENST00000357368.4_Missense_Mutation_p.K144N|PTPRS_ENST00000587303.1_Missense_Mutation_p.K144N Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 144 Ig-like C2-type 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) GCTCCACCACCTTCAACTGTG 0.597000 5 38 0 0 0.001984 0 0 COL19A1 1310 broad.mit.edu 37 6 70900066 70900066 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:70900066G>A ENST00000322773.4 + 48 3177 c.3075G>A c.(3073-3075)gaG>gaA p.E1025E COL19A1_ENST00000393344.1_Silent_p.E647E NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 1025 cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging p.E1025D(1) breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 TTAATCAAGAGGTCCTAAGGA 0.338000 4 12 0 0 0.000602 0 0 MAP3K15 389840 broad.mit.edu 37 X 19387328 19387328 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:19387328G>C ENST00000338883.4 - 25 3409 c.3410C>G c.(3409-3411)gCc>gGc p.A1137G MAP3K15_ENST00000359173.3_Missense_Mutation_p.A572G|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.A969G NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 1137 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) CTCAAAGTGGGCTCGGAGCTC 0.597000 11 43 0 0 0.001855 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724382 38724382 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:38724382G>A ENST00000342213.2 - 1 1192 c.846C>T c.(844-846)gaC>gaT p.D282D NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 282 EGF-like. 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) AAGAGCGGCCGTCCTTCCCCA 0.677000 6 66 0 0 0.001168 0 0 LILRA1 11024 broad.mit.edu 37 19 55105928 55105928 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:55105928C>A ENST00000453777.1 + 3 227 c.57C>A c.(55-57)acC>acA p.T19T LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Silent_p.T19T|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 19 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GCCCCCGGACCCACGTGCAGG 0.657000 25 56 9.80776e-20 1.99109e-19 0.006320 1 0 ANK2 287 broad.mit.edu 37 4 114254230 114254230 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:114254230C>A ENST00000357077.4 + 29 3298 c.3245C>A c.(3244-3246)cCt>cAt p.P1082H ANK2_ENST00000509550.1_Missense_Mutation_p.P258H|ANK2_ENST00000264366.6_Missense_Mutation_p.P1049H|ANK2_ENST00000506722.1_Missense_Mutation_p.P1073H|ANK2_ENST00000394537.3_Missense_Mutation_p.P1082H NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1049 Interaction with SPTBN1. 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) GTGGAGATCCCTCACTTTGCG 0.507000 21 46 1.96292e-10 3.41863e-10 0.001523 1 0 DNAH12 201625 broad.mit.edu 37 3 57496642 57496642 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:57496642C>A ENST00000351747.2 - 5 524 c.344G>T c.(343-345)tGg>tTg p.W115L DNAH12_ENST00000389536.4_Missense_Mutation_p.W115L|DNAH12_ENST00000311202.6_Missense_Mutation_p.W115L NM_178504.4 NP_848599.3 Q6ZR08 DYH12_HUMAN dynein, axonemal, heavy chain 12 115 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1) 25 GTGATCCAGCCATTCCTGCTG 0.353000 7 32 7.48243e-07 1.09873e-06 0.006214 1 0 CLSTN3 9746 broad.mit.edu 37 12 7286289 7286289 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:7286289A>G ENST00000537408.1 + 2 882 c.344A>G c.(343-345)aAg>aGg p.K115R CLSTN3_ENST00000266546.6_Missense_Mutation_p.K103R Q9BQT9 CSTN3_HUMAN calsyntenin 3 103 Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 GAGGCCCAGAAGGAACACACC 0.622000 16 50 0 0 0.004990 0 0 CROT 54677 broad.mit.edu 37 7 86990876 86990876 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:86990876G>T ENST00000331536.3 + 5 596 c.411G>T c.(409-411)caG>caT p.Q137H CROT_ENST00000442291.1_Missense_Mutation_p.Q137H|CROT_ENST00000419147.2_Missense_Mutation_p.Q165H NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 137 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) ACTACTGGCAGCTATTAAGAA 0.408000 4 31 0.000602214 0.000718394 0.000602 1 0 OR2A2 442361 broad.mit.edu 37 7 143806830 143806830 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:143806830C>G ENST00000408979.2 + 1 224 c.155C>G c.(154-156)tCt>tGt p.S52C NM_001005480.2 NP_001005480.2 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, member 2 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4) 22 Melanoma(164;0.0783) TGCCTGGACTCTAAGCTTCAC 0.493000 47 123 0 0 0.003610 0 0 WDR91 29062 broad.mit.edu 37 7 134881057 134881057 + Silent SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:134881057T>A ENST00000354475.4 - 8 1114 c.1083A>T c.(1081-1083)ccA>ccT p.P361P WDR91_ENST00000423565.1_Silent_p.P326P|WDR91_ENST00000344400.5_Silent_p.P361P|WDR91_ENST00000485942.1_5'UTR NM_014149.3 NP_054868.3 A4D1P6 WDR91_HUMAN WD repeat domain 91 361 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 GCTCAGCCTCTGGGCCACTGG 0.657000 16 36 0 0 0.007413 0 0 DSCAML1 57453 broad.mit.edu 37 11 117389381 117389381 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:117389381G>C ENST00000321322.6 - 7 1491 c.1490C>G c.(1489-1491)cCc>cGc p.P497R DSCAML1_ENST00000527706.1_Missense_Mutation_p.P227R NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 437 Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GGTGACCGTGGGGGGCGGGGC 0.667000 6 35 0 0 0.001168 0 0 GBA3 57733 broad.mit.edu 37 4 22749528 22749528 + RNA SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:22749528G>C ENST00000511446.1 + 0 899 GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ATGATCAAAGGCACTGCTGAT 0.408000 3 15 0 0 0.000248 0 0 TMEM119 338773 broad.mit.edu 37 12 108985845 108985845 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:108985845G>T ENST00000392806.3 - 2 483 c.315C>A c.(313-315)gcC>gcA p.A105A NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 105 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 TCAGCAGAAAGGCCAGGGAGC 0.587000 9 40 1.12685e-05 1.56921e-05 0.004482 1 0 CHRNA4 1137 broad.mit.edu 37 20 61990903 61990903 + Missense_Mutation SNP G G T rs113080067 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:61990903G>T ENST00000370263.4 - 2 446 c.225C>A c.(223-225)gaC>gaA p.D75E CHRNA4_ENST00000463705.1_Intron NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 75 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) CACCTACCACGTCAATGAGCT 0.612000 8 40 2.17888e-05 2.9728e-05 0.006214 1 0 RASAL2 9462 broad.mit.edu 37 1 178427213 178427213 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:178427213T>C ENST00000448150.3 + 14 3571 c.2753T>C c.(2752-2754)cTc>cCc p.L918P RASAL2_ENST00000367649.3_Missense_Mutation_p.L929P|RASAL2_ENST00000462775.1_Missense_Mutation_p.L788P NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 788 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 GTCTATCACCTCAATAACCCA 0.522000 3 69 0 0 0.004672 0 0 NPTX2 4885 broad.mit.edu 37 7 98256507 98256507 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:98256507G>T ENST00000265634.3 + 4 1084 c.919G>T c.(919-921)Ggc>Tgc p.G307C NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 307 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) TGTCAGTGACGGCAAGTGGCA 0.637000 13 25 7.93312e-07 1.15985e-06 0.002450 1 0 PCDH18 54510 broad.mit.edu 37 4 138442469 138442469 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:138442469G>A ENST00000344876.4 - 4 3508 c.3122C>T c.(3121-3123)cCc>cTc p.P1041L PCDH18_ENST00000511115.1_Missense_Mutation_p.P221L|PCDH18_ENST00000412923.2_Missense_Mutation_p.P1040L|PCDH18_ENST00000507846.1_Missense_Mutation_p.P820L|PCDH18_ENST00000510305.1_Missense_Mutation_p.P252L NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 1041 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GGCTGGCAAGGGTCCCTTCCT 0.577000 5 39 0 0 0.000602 0 0 CACNA1E 777 broad.mit.edu 37 1 181620521 181620521 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:181620521C>T ENST00000526775.1 + 7 1164 c.999C>T c.(997-999)ccC>ccT p.P333P CACNA1E_ENST00000358338.5_Silent_p.P284P|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Silent_p.P284P|CACNA1E_ENST00000360108.3_Silent_p.P333P|CACNA1E_ENST00000367573.2_Silent_p.P333P|CACNA1E_ENST00000367570.1_Silent_p.P333P NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 333 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ACTTCATCCCCCTCATCATCA 0.433000 10 66 0 0 0.008291 0 0 FAM209B 388799 broad.mit.edu 37 20 55111388 55111388 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:55111388T>A ENST00000371325.1 + 2 506 c.410T>A c.(409-411)aTg>aAg p.M137K NM_001013646.2 NP_001013668.2 Q5JX69 CT107_HUMAN family with sequence similarity 209, member B 137 integral to membrane AAAGGTGCCATGGCAACAGGC 0.423000 10 40 0 0 0.008291 0 0 MUC16 94025 broad.mit.edu 37 19 9061767 9061767 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:9061767G>C ENST00000397910.4 - 3 25882 c.25679C>G c.(25678-25680)tCt>tGt p.S8560C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8562 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAGAGACAGAGCTGGCTTC 0.502000 8 25 0 0 0.003080 0 0 THOC2 57187 broad.mit.edu 37 X 122778518 122778518 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:122778518C>A ENST00000245838.8 - 15 1600 c.1569G>T c.(1567-1569)ctG>ctT p.L523L THOC2_ENST00000491737.1_Silent_p.L408L|THOC2_ENST00000355725.4_Silent_p.L523L NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 523 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 ACTGGCCATACAGACGATATC 0.289000 3 13 6.4e-05 8.32925e-05 0.004672 1 0 MS4A5 64232 broad.mit.edu 37 11 60198297 60198297 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:60198297C>A ENST00000300190.2 + 2 268 c.182C>A c.(181-183)aCc>aAc p.T61N MS4A5_ENST00000534071.1_Intron NM_023945.2 NP_076434.2 Q9H3V2 MS4A5_HUMAN membrane-spanning 4-domains, subfamily A, member 5 61 integral to membrane receptor activity large_intestine(7)|lung(7)|ovary(1)|skin(1) 16 GGAATTATGACCTTTTCTTTT 0.363000 28 95 1.26454e-06 1.84481e-06 0.005443 1 0 RP1 6101 broad.mit.edu 37 8 55540348 55540348 + Silent SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:55540348C>G ENST00000220676.1 + 4 4054 c.3906C>G c.(3904-3906)gtC>gtG p.V1302V NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1302 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) TAGGAGAGGTCTGTTCACTTA 0.433000 13 83 0 0 0.001368 0 0 ATP10D 57205 broad.mit.edu 37 4 47514733 47514733 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:47514733C>T ENST00000273859.3 + 2 445 c.176C>T c.(175-177)cCc>cTc p.P59L ATP10D_ENST00000504445.1_Missense_Mutation_p.P59L NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 59 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CACATCCAGCCCTTCAAGGAT 0.473000 11 28 0 0 0.001368 0 0 RYR2 6262 broad.mit.edu 37 1 237777909 237777909 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:237777909C>A ENST00000366574.2 + 37 5798 c.5481C>A c.(5479-5481)acC>acA p.T1827T RYR2_ENST00000360064.6_Silent_p.T1825T|RYR2_ENST00000542537.1_Silent_p.T1811T NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1827 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTTTCTATACCCTGCTGATCA 0.493000 19 104 2.4624e-09 4.03809e-09 0.008871 1 0 SCML4 256380 broad.mit.edu 37 6 108066261 108066261 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:108066261G>T ENST00000369022.2 - 4 609 c.400C>A c.(400-402)Ctg>Atg p.L134M SCML4_ENST00000369020.3_Missense_Mutation_p.L192M|SCML4_ENST00000369021.3_Missense_Mutation_p.L163M Q8N228 SCML4_HUMAN sex comb on midleg-like 4 (Drosophila) 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1) 25 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) CTTCGGCACAGCTTGGCGAGG 0.592000 3 13 0.004672 0.00521346 0.004672 1 0 HHIPL1 84439 broad.mit.edu 37 14 100118736 100118736 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:100118736G>C ENST00000330710.5 + 2 529 c.431G>C c.(430-432)aGg>aCg p.R144T HHIPL1_ENST00000357223.2_Missense_Mutation_p.R144T NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 144 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) AACCTTGCCAGGTTCTGCCGC 0.587000 10 49 0 0 0.006214 0 0 SERPINI1 5274 broad.mit.edu 37 3 167506983 167506983 + Nonsense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:167506983G>T ENST00000295777.5 + 2 498 c.67G>T c.(67-69)Gag>Tag p.E23* SERPINI1_ENST00000446050.2_Nonsense_Mutation_p.E23* NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 23 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 CACTTTCCCTGAGGAAGCCAT 0.413000 12 39 1.05317e-09 1.77904e-09 0.002450 1 0 MYH7 4625 broad.mit.edu 37 14 23886893 23886893 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:23886893T>A ENST00000355349.3 - 31 4334 c.4172A>T c.(4171-4173)aAg>aTg p.K1391M NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1391 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GGCCAGCTTCTTCCTGCCCAG 0.582000 5 34 0 0 0.000602 0 0 SENP5 205564 broad.mit.edu 37 3 196612328 196612328 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:196612328G>T ENST00000323460.5 + 2 525 c.276G>T c.(274-276)ttG>ttT p.L92F SENP5_ENST00000445299.2_Missense_Mutation_p.L92F|SENP5_ENST00000419026.1_Intron NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 92 cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) TTAGTACTTTGTCCTCTAAAG 0.408000 11 39 2.68362e-12 4.95551e-12 0.001368 1 0 ZAN 7455 broad.mit.edu 37 7 100348468 100348468 + RNA SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:100348468C>A ENST00000542585.1 + 0 1618 ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_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) AGCGCCCTTACTGGCAGAACA 0.627000 3 19 0.000602214 0.000718394 0.000602 1 0 SIGLEC9 27180 broad.mit.edu 37 19 51628303 51628303 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:51628303G>A ENST00000440804.3 + 1 139 c.72G>A c.(70-72)acG>acA p.T24T SIGLEC9_ENST00000250360.3_Silent_p.T24T NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 24 Ig-like V-type. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) AACTGCTGACGATGCAGAGTT 0.617000 8 27 0 0 0.003080 0 0 SLC4A10 57282 broad.mit.edu 37 2 162735744 162735744 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:162735744G>T ENST00000375514.5 + 9 1282 c.995G>T c.(994-996)aGg>aTg p.R332M SLC4A10_ENST00000446997.1_Missense_Mutation_p.R351M|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R321M|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R351M|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R321M|SLC4A10_ENST00000535165.1_Missense_Mutation_p.R351M NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 351 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GCGTTTGTCAGGTTGTCTCCA 0.413000 15 66 1.37285e-15 2.72148e-15 0.004007 1 0 CDHR2 54825 broad.mit.edu 37 5 176017663 176017663 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:176017663A>T ENST00000510636.1 + 28 3788 c.3514A>T c.(3514-3516)Atg>Ttg p.M1172L CDHR2_ENST00000261944.5_Missense_Mutation_p.M1172L|CDHR2_ENST00000506348.1_Missense_Mutation_p.M1172L NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 1172 homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GATCATGACCATGGCCTTCGT 0.597000 4 45 0 0 0.000602 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3682161 3682161 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:3682161C>A ENST00000344754.4 - 6 1355 c.1356G>T c.(1354-1356)ctG>ctT p.L452L SIGLEC1_ENST00000202578.4_Silent_p.L452L NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 452 Ig-like C2-type 4. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 AGGTGGAGGCCAGGATATGAC 0.617000 10 38 0.000151284 0.000191305 0.001855 1 0 DLC1 10395 broad.mit.edu 37 8 13072267 13072267 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:13072267C>G ENST00000316609.5 - 6 1653 c.1365G>C c.(1363-1365)aaG>aaC p.K455N DLC1_ENST00000512044.2_Intron|DLC1_ENST00000276297.4_Intron Q96QB1 RHG07_HUMAN deleted in liver cancer 1 0 SAM. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 CCACTTCCAACTTTACTGATT 0.443000 15 35 0 0 0.002450 0 0 TSHZ1 10194 broad.mit.edu 37 18 73000452 73000452 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:73000452G>A ENST00000322038.5 + 2 3539 c.2955G>A c.(2953-2955)gaG>gaA p.E985E TSHZ1_ENST00000580243.1_Silent_p.E1030E NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 1030 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GGGCCACCGAGGAAGACTTGG 0.517000 11 48 0 0 0.000978 0 0 FREM2 341640 broad.mit.edu 37 13 39265079 39265079 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:39265079G>A ENST00000280481.7 + 1 3814 c.3598G>A c.(3598-3600)Gtg>Atg p.V1200M NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1200 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AGAATTTATGGTGATGGAAGG 0.408000 17 95 0 0 0.004990 0 0 MAP3K19 80122 broad.mit.edu 37 2 135779284 135779284 + Splice_Site SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:135779284C>A ENST00000375845.3 - 2 169 c.e2+1 MAP3K19_ENST00000375844.3_Splice_Site|MAP3K19_ENST00000315513.3_Splice_Site|MAP3K19_ENST00000392915.1_Splice_Site|MAP3K19_ENST00000392917.3_Splice_Site|MAP3K19_ENST00000358371.4_Splice_Site|MAP3K19_ENST00000392918.3_Splice_Site NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 GAGGCTCTTACCTCACTTCTG 0.348000 8 20 0.00307968 0.00351219 0.003080 1 0 DMRT3 58524 broad.mit.edu 37 9 990229 990229 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:990229G>C ENST00000190165.2 + 2 681 c.643G>C c.(643-645)Gag>Cag p.E215Q NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 215 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity p.E78*(1)|p.E215*(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) AGGCAACCCCGAGAGCCGCCC 0.587000 10 32 0 0 0.006214 0 0 C11orf16 56673 broad.mit.edu 37 11 8951044 8951044 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:8951044G>T ENST00000326053.5 - 3 310 c.204C>A c.(202-204)gaC>gaA p.D68E C11orf16_ENST00000528998.1_Intron|C11orf16_ENST00000525780.1_Missense_Mutation_p.D68E NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 68 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) GCCATGCTGGGTCGGCAACGT 0.532000 5 19 1.024e-07 1.60506e-07 0.000602 1 0 SVEP1 79987 broad.mit.edu 37 9 113169798 113169798 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:113169798G>T ENST00000401783.2 - 38 8418 c.8082C>A c.(8080-8082)aaC>aaA p.N2694K SVEP1_ENST00000297826.5_Missense_Mutation_p.N620K|SVEP1_ENST00000374469.1_Missense_Mutation_p.N2671K NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2694 Sushi 21. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TCAGCACAGGGTTCCCCAGAA 0.443000 7 114 0.00198382 0.00228173 0.001984 1 0 GLCCI1 113263 broad.mit.edu 37 7 8099853 8099853 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:8099853A>G ENST00000223145.5 + 5 1498 c.941A>G c.(940-942)aAt>aGt p.N314S GLCCI1_ENST00000474269.1_3'UTR NM_138426.3 NP_612435.1 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 314 endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 25 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) ATTAAAGAAAATAATGGGAAG 0.353000 13 46 0 0 0.003163 0 0 SUGT1 10910 broad.mit.edu 37 13 53254252 53254252 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:53254252G>T ENST00000535397.1 + 13 1067 c.694G>T c.(694-696)Ggt>Tgt p.G232C SUGT1_ENST00000310528.7_Missense_Mutation_p.G288C|SUGT1_ENST00000343788.6_Missense_Mutation_p.G320C Q9Y2Z0 SUGT1_HUMAN SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae) 320 CS. mitosis kinetochore|ubiquitin ligase complex binding kidney(3)|large_intestine(3)|lung(2) 8 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.25e-08) CTATTCAGATGGTTCTGATGA 0.318000 12 91 4.36969e-10 7.49407e-10 0.001855 1 0 OR5D18 219438 broad.mit.edu 37 11 55587842 55587842 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:55587842T>A ENST00000333976.4 + 1 757 c.737T>A c.(736-738)cTg>cAg p.L246Q NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) GCCTCCCACCTGACTGCCATC 0.512000 5 55 0 0 0.001168 0 0 MED12L 116931 broad.mit.edu 37 3 150876565 150876565 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:150876565C>A ENST00000474524.1 + 6 854 c.816C>A c.(814-816)ctC>ctA p.L272L MED12L_ENST00000422248.2_Silent_p.L272L|MED12L_ENST00000273432.4_Silent_p.L272L|MED12L_ENST00000309237.4_Silent_p.L272L NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 272 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTCTTAAACTCTTGCTACCAC 0.383000 8 15 0.00448238 0.005069 0.004482 1 0 SHOX2 6474 broad.mit.edu 37 3 157816033 157816033 + Missense_Mutation SNP G G T rs145675724 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:157816033G>T ENST00000490689.2 - 5 1889 c.356C>A c.(355-357)gCg>gAg p.A119E SHOX2_ENST00000483851.2_Missense_Mutation_p.A248E|SHOX2_ENST00000441443.2_Missense_Mutation_p.A119E|SHOX2_ENST00000425436.3_Missense_Mutation_p.A260E|SHOX2_ENST00000389589.4_Missense_Mutation_p.A284E O60902 SHOX2_HUMAN short stature homeobox 2 260 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) GTGGTGGTGCGCGTGCGCCAC 0.637000 14 45 9.31168e-06 1.3048e-05 0.001855 1 0 OR10A2 341276 broad.mit.edu 37 11 6891597 6891597 + Silent SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:6891597C>G ENST00000307322.4 + 1 674 c.612C>G c.(610-612)tcC>tcG p.S204S NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCTTGTGTTCCTATACTCACA 0.483000 24 155 0 0 0.003954 0 0 A2ML1 144568 broad.mit.edu 37 12 9004398 9004398 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:9004398G>A ENST00000299698.7 + 19 2433 c.2253G>A c.(2251-2253)gcG>gcA p.A751A A2ML1_ENST00000539547.1_Silent_p.A260A NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 595 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 GGAAGGAGGCGGTCCACGTCA 0.527000 6 28 0 0 0.001168 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75376737 75376737 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:75376737A>G ENST00000555647.1 - 8 1066 c.779T>C c.(778-780)cTg>cCg p.L260P RPS6KL1_ENST00000557413.1_Missense_Mutation_p.L260P|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.L229P|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.L260P Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 260 Protein kinase. ribosome ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(234;0.00658) CGCTGGGGTCAGGAGGTTGAG 0.642000 12 47 0 0 0.001368 0 0 SELENBP1 8991 broad.mit.edu 37 1 151338815 151338815 + Missense_Mutation SNP T T A rs138557053 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:151338815T>A ENST00000435071.1 - 7 1049 c.587A>T c.(586-588)gAc>gTc p.D196V SELENBP1_ENST00000447402.3_Missense_Mutation_p.D198V|SELENBP1_ENST00000368868.5_Missense_Mutation_p.D260V|SELENBP1_ENST00000426705.2_Missense_Mutation_p.D302V Q13228 SBP1_HUMAN selenium binding protein 1 260 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TTGGGCAGCGTCTGGGTTGTG 0.562000 20 102 0 0 0.002299 0 0 MXRA5 25878 broad.mit.edu 37 X 3228008 3228008 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:3228008G>C ENST00000217939.6 - 7 8390 c.8236C>G c.(8236-8238)Cgg>Ggg p.R2746G NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2746 Ig-like C2-type 12. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TTCCCGGGCCGGGTGTAGATG 0.597000 23 47 0 0 0.002299 0 0 PCDHA4 56144 broad.mit.edu 37 5 140186808 140186808 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:140186808G>T ENST00000530339.1 + 1 36 c.36G>T c.(34-36)cgG>cgT p.R12R PCDHA4_ENST00000512229.2_Silent_p.R12R|PCDHA4_ENST00000356878.4_Silent_p.R12R|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGAATCCCGGCGTCTGCTGC 0.512000 10 61 0.000978159 0.00115057 0.000978 1 0 SPEF2 79925 broad.mit.edu 37 5 35727880 35727880 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:35727880G>T ENST00000440995.2 + 21 3003 c.3003G>T c.(3001-3003)aaG>aaT p.K1001N CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.K1006N Q9C093 SPEF2_HUMAN sperm flagellar 2 1006 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGCCACCTAAGCCAGGATCAG 0.428000 18 60 0.00152264 0.00177554 0.001523 1 0 TMPRSS9 360200 broad.mit.edu 37 19 2389903 2389903 + Silent SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:2389903C>G ENST00000332578.3 + 1 120 c.120C>G c.(118-120)gtC>gtG p.V40V NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 40 proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) GCCTTGTCGTCCTCACCCTGG 0.592000 4 37 0 0 0.000602 0 0 PTPRN2 5799 broad.mit.edu 37 7 157926730 157926730 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:157926730G>C ENST00000389413.3 - 9 1298 c.1195C>G c.(1195-1197)Ctc>Gtc p.L399V PTPRN2_ENST00000389418.4_Missense_Mutation_p.L399V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.L361V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.L422V|PTPRN2_ENST00000389416.4_Missense_Mutation_p.L382V NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 399 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) AGGCCCCCGAGTGTGGCACTC 0.602000 7 35 0 0 0.001984 0 0 ACSM5 54988 broad.mit.edu 37 16 20441028 20441028 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:20441028C>A ENST00000331849.4 + 8 1177 c.1030C>A c.(1030-1032)Ctg>Atg p.L344M NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 344 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 GAGGCACTGTCTGACCGGAGG 0.562000 18 86 1.99824e-07 3.04708e-07 0.004990 1 0 PFKFB3 5209 broad.mit.edu 37 10 6264857 6264857 + Missense_Mutation SNP A A C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:6264857A>C ENST00000379775.4 + 11 1453 c.1123A>C c.(1123-1125)Atg>Ctg p.M375L PFKFB3_ENST00000317350.4_Missense_Mutation_p.M375L|PFKFB3_ENST00000360521.2_Missense_Mutation_p.M375L|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000379782.3_Missense_Mutation_p.M375L|PFKFB3_ENST00000540253.1_Missense_Mutation_p.M389L|PFKFB3_ENST00000379789.4_Missense_Mutation_p.M355L|PFKFB3_ENST00000379785.1_Missense_Mutation_p.M375L NM_004566.3 NP_004557.1 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 375 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 GCCAGTGATCATGGAGCTGGA 0.652000 3 18 0 0 0.000248 0 0 STAB2 55576 broad.mit.edu 37 12 104149217 104149217 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:104149217G>T ENST00000388887.2 + 62 7056 c.6852G>T c.(6850-6852)atG>atT p.M2284I RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2284 Link. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGAGTGAAATGTGGGATGTCT 0.572000 6 59 8.12818e-05 0.000103758 0.001984 1 0 IGSF22 283284 broad.mit.edu 37 11 18731050 18731050 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:18731050G>T ENST00000513874.1 - 18 3021 c.2882C>A c.(2881-2883)aCa>aAa p.T961K RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 860 NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 TCCTCCCACTGTGTAGCAGGT 0.567000 23 54 3.28513e-13 6.23711e-13 0.003954 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84611395 84611395 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:84611395G>A ENST00000286744.5 + 18 2389 c.2165G>A c.(2164-2166)gGa>gAa p.G722E ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G722E NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 722 TSP type-1 5. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TGTGGAGTTGGAATTCAGACC 0.537000 14 52 0 0 0.003163 0 0 GPR115 221393 broad.mit.edu 37 6 47681803 47681803 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:47681803G>T ENST00000283303.2 + 6 1080 c.822G>T c.(820-822)caG>caT p.Q274H GPR115_ENST00000371220.1_Missense_Mutation_p.Q331H|GPR115_ENST00000327753.3_Missense_Mutation_p.Q274H NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 274 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GAATGGTACAGATTCCCAGGC 0.458000 18 26 2.35188e-11 4.24978e-11 0.006122 1 0 OR4C6 219432 broad.mit.edu 37 11 55432968 55432968 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:55432968G>C ENST00000314259.3 + 1 355 c.326G>C c.(325-327)gGg>gCg p.G109A NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 109 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 GGTGGTGTGGGGATCATCCTC 0.547000 7 46 0 0 0.004482 0 0 TRIOBP 11078 broad.mit.edu 37 22 38150967 38150967 + Silent SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr22:38150967T>C ENST00000406386.3 + 13 5718 c.5463T>C c.(5461-5463)taT>taC p.Y1821Y TRIOBP_ENST00000403663.2_Silent_p.Y108Y|RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000407319.2_Silent_p.Y108Y NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 1821 PH. actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GTCTCAAATATTACAGAGACT 0.567000 4 23 0 0 0.000602 0 0 ASTN1 460 broad.mit.edu 37 1 176993800 176993800 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:176993800C>T ENST00000367654.2 - 6 1202 c.1189G>A c.(1189-1191)Ggc>Agc p.G397S ASTN1_ENST00000424564.2_Missense_Mutation_p.G397S|ASTN1_ENST00000367657.3_Missense_Mutation_p.G397S|ASTN1_ENST00000361833.2_Missense_Mutation_p.G397S|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 397 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CACACGAGGCCAATCACACAG 0.522000 6 28 0 0 0.001168 0 0 RRP8 23378 broad.mit.edu 37 11 6622385 6622385 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:6622385C>T ENST00000254605.6 - 3 1028 c.911G>A c.(910-912)cGc>cAc p.R304H RRP8_ENST00000534343.1_Intron NM_015324.3 NP_056139.1 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, homolog (yeast) 304 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2) 13 TCACCGCTGGCGAAGATCCCT 0.577000 3 24 0 0 0.000248 0 0 HS6ST3 266722 broad.mit.edu 37 13 97485064 97485064 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:97485064A>T ENST00000376705.2 + 2 1052 c.1028A>T c.(1027-1029)aAc>aTc p.N343I NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 343 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) AGTGCAAAGAACAACCTGAAG 0.488000 9 51 0 0 0.008291 0 0 RTN1 6252 broad.mit.edu 37 14 60193775 60193775 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:60193775G>T ENST00000267484.5 - 3 1962 c.1627C>A c.(1627-1629)Ctg>Atg p.L543M NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 543 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TCAGGCTCCAGGGCTCCGTCT 0.677000 6 10 3.59834e-05 4.79304e-05 0.001168 1 0 ASTN1 460 broad.mit.edu 37 1 176913034 176913034 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:176913034G>T ENST00000367654.2 - 14 2407 c.2394C>A c.(2392-2394)ttC>ttA p.F798L ASTN1_ENST00000424564.2_Missense_Mutation_p.F790L|ASTN1_ENST00000367657.3_Missense_Mutation_p.F790L|ASTN1_ENST00000361833.2_Missense_Mutation_p.F790L|ASTN1_ENST00000281881.3_5'UTR O14525 ASTN1_HUMAN astrotactin 1 798 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CACCAGTCAGGAAGTCAGGGT 0.498000 7 24 0.00198382 0.00228173 0.001984 1 0 PAPPA2 60676 broad.mit.edu 37 1 176740128 176740128 + Silent SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:176740128T>A ENST00000367662.3 + 17 5691 c.4527T>A c.(4525-4527)ctT>ctA p.L1509L NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1509 Sushi 2. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGACATGTCTTGAAGATGGTC 0.483000 21 57 0 0 0.003330 0 0 UGT3A2 167127 broad.mit.edu 37 5 36052038 36052038 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:36052038G>A ENST00000282507.3 - 3 346 c.245C>T c.(244-246)cCt>cTt p.P82L UGT3A2_ENST00000504954.1_5'UTR|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Missense_Mutation_p.P48L NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 82 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATGATCTTCAGGTGCAAGCCA 0.294000 20 37 0 0 0.001882 0 0 UGGT2 55757 broad.mit.edu 37 13 96638604 96638604 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:96638604G>A ENST00000376747.3 - 9 1084 c.1014C>T c.(1012-1014)aaC>aaT p.N338N UGGT2_ENST00000397618.3_Silent_p.N338N|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376714.3_3'UTR NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 338 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TTATGGGGAAGTTCTGTGAAA 0.303000 5 24 0 0 0.001168 0 0 COG4 25839 broad.mit.edu 37 16 70542344 70542344 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:70542344C>A ENST00000323786.5 - 8 1047 c.1026G>T c.(1024-1026)ctG>ctT p.L342L NM_001195139.1|NM_015386.2 NP_001182068.1|NP_056201.2 Q9H9E3 COG4_HUMAN component of oligomeric golgi complex 4 338 Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) AATTTCTCATCAGGTTGTTCT 0.408000 10 21 4.68919e-08 7.41905e-08 0.008291 1 0 PILRA 29992 broad.mit.edu 37 7 99997503 99997503 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:99997503G>A ENST00000453419.1 + 6 827 c.628G>A c.(628-630)Gac>Aac p.D210N PILRA_ENST00000394000.2_3'UTR|PILRA_ENST00000198536.2_Silent_p.E295E|PILRA_ENST00000350573.2_Silent_p.E222E NM_178272.1 NP_840056.1 Q9UKJ1 PILRA_HUMAN paired immunoglobin-like type 2 receptor alpha 287 interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 15 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCCAGAACGAGACCCTGTACT 0.587000 20 75 0 0 0.001523 0 0 KRTAP12-1 353332 broad.mit.edu 37 21 46101879 46101879 + Missense_Mutation SNP C C A rs72562333 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr21:46101879C>A ENST00000391617.1 - 1 199 c.160G>T c.(160-162)Gtg>Ttg p.V54L TSPEAR_ENST00000323084.4_Intron NM_181686.1 NP_859014.1 P59990 KR121_HUMAN keratin associated protein 12-1 54 14 X 5 AA approximate repeats. keratin filament kidney(1)|large_intestine(1)|lung(1)|skin(2) 5 GGCACGCACACAGAGGACTGG 0.662000 26 67 2.48779e-11 4.48335e-11 0.005443 1 0 FLT4 2324 broad.mit.edu 37 5 180057088 180057088 + Nonsense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:180057088C>T ENST00000261937.6 - 5 609 c.531G>A c.(529-531)tgG>tgA p.W177* FLT4_ENST00000393347.3_Nonsense_Mutation_p.W177*|FLT4_ENST00000502649.1_Nonsense_Mutation_p.W177*|FLT4_ENST00000424276.2_5'UTR NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 177 Ig-like C2-type 2. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GCCCGTCTGGCCACAGCACCG 0.672000 6 33 0 0 0.001984 0 0 EVI2B 2124 broad.mit.edu 37 17 29632169 29632169 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:29632169G>T ENST00000330927.4 - 2 613 c.459C>A c.(457-459)gtC>gtA p.V153V NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Silent_p.V153V|EVI2B_ENST00000544462.1_Silent_p.V168V NM_006495.3 NP_006486.3 P34910 EVI2B_HUMAN ecotropic viral integration site 2B 153 cytoplasm|integral to plasma membrane p.0?(8)|p.?(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) AAGGGATCTGGACAGATGATG 0.408000 23 121 1.9806e-07 3.03392e-07 0.002299 1 0 LMX1B 4010 broad.mit.edu 37 9 129453247 129453247 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:129453247C>T ENST00000355497.5 + 3 466 c.459C>T c.(457-459)ggC>ggT p.G153G LMX1B_ENST00000373474.4_Silent_p.G153G|LMX1B_ENST00000526117.1_Silent_p.G153G|LMX1B_ENST00000561065.1_Silent_p.G130G|LMX1B_ENST00000425646.2_Silent_p.G130G NM_001174146.1 NP_001167617.1 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 130 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 TACGCAAGGGCGACGAATTCG 0.632000 Nail-Patella Syndrome 5 16 0 0 0.000602 0 0 NPHP3 27031 broad.mit.edu 37 3 132440852 132440852 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:132440852C>T ENST00000326682.8 - 1 424 c.348G>A c.(346-348)gaG>gaA p.E116E NPHP3_ENST00000337331.5_Silent_p.E116E|NPHP3_ENST00000343113.4_Silent_p.E116E|NPHP3_ENST00000383282.2_Silent_p.E116E|NPHP3-AS1_ENST00000489343.1_RNA Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 116 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding p.E116E(1) NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCAGCTTGGCCTCGCGGCGGC 0.667000 9 33 0 0 0.006214 0 0 TRAV5 28688 broad.mit.edu 37 14 22217500 22217500 + RNA SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:22217500C>G ENST00000390427.3 + 0 39 GATTTTCGTTCCTGTTTTTGT 0.453000 31 118 0 0 0.004289 0 0 PAX4 5078 broad.mit.edu 37 7 127251136 127251136 + Silent SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:127251136T>A ENST00000341640.2 - 9 1219 c.1014A>T c.(1012-1014)ctA>ctT p.L338L PAX4_ENST00000463946.1_Silent_p.L336L|PAX4_ENST00000378740.2_Intron|PAX4_ENST00000338516.3_3'UTR NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 0 Transcription repression. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 AGCCATACAGTAGTGGGCAGC 0.567000 3 14 0 0 0.004672 0 0 KIF21A 55605 broad.mit.edu 37 12 39703569 39703569 + Splice_Site SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:39703569C>A ENST00000395670.3 - 32 4519 c.e32-1 KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000547745.1_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site Q7Z4S6 KI21A_HUMAN kinesin family member 21A microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) CAAGTACGATCTAAAACAAAC 0.318000 7 14 0.000274275 0.000337338 0.004482 1 0 CFHR4 10877 broad.mit.edu 37 1 196876619 196876619 + Nonsense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:196876619A>T ENST00000367416.2 + 5 924 c.787A>T c.(787-789)Aga>Tga p.R263* CFHR4_ENST00000367418.1_Intron|CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 AGAACCACCAAGATGCATATG 0.353000 5 28 0 0 0.000602 0 0 HAT1 8520 broad.mit.edu 37 2 172844191 172844191 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:172844191G>T ENST00000264108.4 + 10 1043 c.1007G>T c.(1006-1008)cGa>cTa p.R336L HAT1_ENST00000392584.1_Missense_Mutation_p.R251L|SLC25A12_ENST00000472748.1_Intron NM_003642.3 NP_003633.1 O14929 HAT1_HUMAN histone acetyltransferase 1 336 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1) 19 OV - Ovarian serous cystadenocarcinoma(117;0.216) GAAATTCTTCGACTACTGGTA 0.353000 12 55 7.03913e-09 1.14876e-08 0.001368 1 0 GAL3ST4 79690 broad.mit.edu 37 7 99757655 99757655 + Missense_Mutation SNP G G T rs150667953 by1000genomes TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:99757655G>T ENST00000360039.4 - 4 1749 c.1357C>A c.(1357-1359)Cgc>Agc p.R453S GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R453S|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R391S|GAL3ST4_ENST00000423751.1_3'UTR NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 453 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTAGCTAGGCGCTCACATTCC 0.572000 22 42 1.64293e-13 3.13693e-13 0.003330 1 0 PCSK2 5126 broad.mit.edu 37 20 17434598 17434598 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:17434598G>T ENST00000262545.2 + 9 1412 c.1097G>T c.(1096-1098)gGt>gTt p.G366V PCSK2_ENST00000536609.1_Missense_Mutation_p.G331V|PCSK2_ENST00000377899.1_Missense_Mutation_p.G347V NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 366 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCCGAGGCCGGTGTGGTGAGC 0.612000 13 26 4.3838e-07 6.59527e-07 0.001855 1 0 ADAM29 11086 broad.mit.edu 37 4 175898230 175898230 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:175898230G>T ENST00000359240.3 + 5 2224 c.1554G>T c.(1552-1554)gaG>gaT p.E518D ADAM29_ENST00000404450.4_Missense_Mutation_p.E518D|ADAM29_ENST00000514159.1_Missense_Mutation_p.E518D|ADAM29_ENST00000445694.1_Missense_Mutation_p.E518D NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 518 Cys-rich. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CTGCAAGTGAGACTTGCTACA 0.433000 11 46 1.08611e-07 1.69062e-07 0.000978 1 0 SEMA3D 223117 broad.mit.edu 37 7 84702316 84702316 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:84702316G>C ENST00000284136.6 - 4 500 c.457C>G c.(457-459)Cca>Gca p.P153A SEMA3D_ENST00000444867.1_Missense_Mutation_p.P153A NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 153 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 CCACATATTGGATGAAATGCT 0.328000 7 33 0 0 0.001984 0 0 CLN6 54982 broad.mit.edu 37 15 68500742 68500742 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:68500742C>A ENST00000249806.5 - 7 829 c.672G>T c.(670-672)ctG>ctT p.L224L CLN6_ENST00000564752.1_3'UTR|CLN6_ENST00000418702.2_Silent_p.L95L|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000566347.1_Silent_p.L161L|CLN6_ENST00000538696.1_Silent_p.L256L|CLN6_ENST00000565471.1_Silent_p.L71L NM_017882.2 NP_060352.1 Q9NWW5 CLN6_HUMAN ceroid-lipofuscinosis, neuronal 6, late infantile, variant 224 cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane protein homodimerization activity large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CCTCGGTGACCAGGTACCTGG 0.632000 6 28 5.9392e-07 8.75935e-07 0.001168 1 0 ANAPC1 64682 broad.mit.edu 37 2 112588917 112588917 + Missense_Mutation SNP C C A rs149309834 by1000genomes TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:112588917C>A ENST00000341068.3 - 21 3343 c.2571G>T c.(2569-2571)atG>atT p.M857I NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 857 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 GATAAGGTGGCATTCCTTCAC 0.393000 3 34 0.004672 0.00521346 0.004672 1 0 MTMR6 9107 broad.mit.edu 37 13 25831917 25831917 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:25831917C>A ENST00000381801.5 - 8 1687 c.926G>T c.(925-927)cGc>cTc p.R309L MTMR6_ENST00000540661.1_Missense_Mutation_p.R309L NM_004685.3 NP_004676.3 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 309 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3) 36 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) TTTGATATGGCGAAGCCATCC 0.388000 3 41 2.56e-06 3.66335e-06 0.000248 1 0 WAPAL 23063 broad.mit.edu 37 10 88203071 88203071 + Nonsense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:88203071G>T ENST00000298767.5 - 17 3844 c.3372C>A c.(3370-3372)taC>taA p.Y1124* WAPAL_ENST00000263070.7_Nonsense_Mutation_p.Y336*|WAPAL_ENST00000484070.1_5'UTR|WAPAL_ENST00000372075.1_Nonsense_Mutation_p.Y336* NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 1124 WAPL. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 GTAGTGCTGTGTAGGAGGCCA 0.403000 5 28 5.9392e-07 8.75935e-07 0.001168 1 0 ITGB2 3689 broad.mit.edu 37 21 46311723 46311723 + Splice_Site SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr21:46311723C>T ENST00000397850.2 - 12 1865 c.e12+1 ITGB2_ENST00000397852.1_Splice_Site|ITGB2_ENST00000397854.3_Splice_Site|ITGB2_ENST00000397857.1_Splice_Site|ITGB2_ENST00000355153.4_Splice_Site|ITGB2_ENST00000302347.5_Splice_Site P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) GCCCGCCTCACCTGCAGATGC 0.677000 5 17 0 0 0.000602 0 0 SVIL 6840 broad.mit.edu 37 10 29840143 29840143 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:29840143T>A ENST00000375398.2 - 8 659 c.210A>T c.(208-210)caA>caT p.Q70H SVIL_ENST00000375400.3_Missense_Mutation_p.Q70H|SVIL_ENST00000355867.4_Missense_Mutation_p.Q70H O95425 SVIL_HUMAN supervillin 70 Interaction with MYLK (By similarity). cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) TGGATCGAGTTTGCTTTTCTA 0.473000 10 42 0 0 0.008291 0 0 PLEC 5339 broad.mit.edu 37 8 144993686 144993686 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:144993686C>G ENST00000322810.4 - 32 10883 c.10714G>C c.(10714-10716)Ggc>Cgc p.G3572R PLEC_ENST00000357649.2_Missense_Mutation_p.G3439R|PLEC_ENST00000354958.2_Missense_Mutation_p.G3413R|PLEC_ENST00000345136.3_Missense_Mutation_p.G3435R|PLEC_ENST00000398774.2_Missense_Mutation_p.G3403R|PLEC_ENST00000354589.3_Missense_Mutation_p.G3435R|PLEC_ENST00000436759.2_Missense_Mutation_p.G3462R|PLEC_ENST00000527096.1_Missense_Mutation_p.G3458R|PLEC_ENST00000356346.3_Missense_Mutation_p.G3421R NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3572 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCTCTGTAGCCGGTGACGGCC 0.677000 7 38 0 0 0.006214 0 0 KLHL1 57626 broad.mit.edu 37 13 70681342 70681342 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:70681342C>G ENST00000377844.4 - 1 1249 c.490G>C c.(490-492)Gga>Cga p.G164R KLHL1_ENST00000545028.1_Missense_Mutation_p.G32R NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 164 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TACCTGTGTCCACATCCTTCA 0.512000 22 48 0 0 0.002299 0 0 PXDNL 137902 broad.mit.edu 37 8 52320835 52320835 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:52320835G>T ENST00000356297.4 - 17 3449 c.3349C>A c.(3349-3351)Ctt>Att p.L1117I PXDNL_ENST00000543296.1_Missense_Mutation_p.L1117I NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1117 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGACTGAGAAGGTAGGAGGGT 0.582000 9 73 2.17888e-05 2.9728e-05 0.006214 1 0 COL6A5 256076 broad.mit.edu 37 3 130174340 130174340 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:130174340G>T ENST00000265379.6 + 37 7114 c.6620G>T c.(6619-6621)gGc>gTc p.G2207V COL6A5_ENST00000432398.2_Missense_Mutation_p.G2207V A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2207 Nonhelical region. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 GGAGGTAATGGCTTCATTGGC 0.358000 5 28 5.9392e-07 8.75935e-07 0.001168 1 0 GFAP 2670 broad.mit.edu 37 17 42992462 42992462 + Silent SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:42992462G>C ENST00000253408.5 - 1 458 c.393C>G c.(391-393)acC>acG p.T131T GFAP_ENST00000435360.2_Silent_p.T131T|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000586793.1_Silent_p.T131T|GFAP_ENST00000588735.1_Intron NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 131 Coil 1B.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) CGCTGTTGGCGGTGAGTTGAT 0.652000 5 27 0 0 0.001168 0 0 KMT2A 4297 broad.mit.edu 37 11 118366490 118366490 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:118366490A>T ENST00000534358.1 + 19 5462 c.5439A>T c.(5437-5439)gaA>gaT p.E1813D KMT2A_ENST00000389506.5_Missense_Mutation_p.E1810D|KMT2A_ENST00000354520.4_Missense_Mutation_p.E1772D NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AGCGAGAGGAAAACAGCCACA 0.473000 5 93 0 0 0.000602 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713412 70713412 + RNA SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:70713412A>G ENST00000530196.1 - 0 1106 NR_003951.1 TATCAACTCCACAATCAATAG 0.408000 19 92 0 0 0.002299 0 0 BOD1L1 259282 broad.mit.edu 37 4 13601510 13601510 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:13601510C>A ENST00000040738.5 - 10 7149 c.7014G>T c.(7012-7014)atG>atT p.M2338I NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2338 DNA binding CGGAAATTGGCATACATTCTG 0.512000 3 9 0.004672 0.00521346 0.004672 1 0 NEURL4 84461 broad.mit.edu 37 17 7224528 7224528 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:7224528C>A ENST00000399464.2 - 20 3278 c.3263G>T c.(3262-3264)aGa>aTa p.R1088I NEURL4_ENST00000570460.1_Missense_Mutation_p.R1064I|NEURL4_ENST00000315614.7_Missense_Mutation_p.R1086I NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTCCTCCAGTCTCGTGGAACT 0.592000 6 11 0.00116845 0.00136487 0.001168 1 0 VPS13C 54832 broad.mit.edu 37 15 62265686 62265686 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:62265686C>A ENST00000261517.5 - 26 2657 c.2584G>T c.(2584-2586)Ggt>Tgt p.G862C VPS13C_ENST00000395896.4_Missense_Mutation_p.G862C|VPS13C_ENST00000249837.3_Missense_Mutation_p.G819C|VPS13C_ENST00000395898.3_Missense_Mutation_p.G819C NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 862 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 AGTGAAGTACCAAGTAGACCT 0.318000 11 57 9.31168e-06 1.3048e-05 0.001855 1 0 HCFC1 3054 broad.mit.edu 37 X 153219910 153219910 + Nonsense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:153219910G>A ENST00000310441.7 - 17 4906 c.3940C>T c.(3940-3942)Cag>Tag p.Q1314* HCFC1_ENST00000369984.4_Nonsense_Mutation_p.Q1314*|HCFC1_ENST00000354233.3_Nonsense_Mutation_p.Q1245* NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1314 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CACACCCTCTGGGCGCTGCCT 0.677000 33 146 0 0 0.003755 0 0 VIT 5212 broad.mit.edu 37 2 37036038 37036038 + Nonsense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:37036038A>T ENST00000379242.3 + 15 2115 c.1813A>T c.(1813-1815)Aag>Tag p.K605* VIT_ENST00000404084.1_Nonsense_Mutation_p.K542*|VIT_ENST00000379241.3_Nonsense_Mutation_p.K568*|VIT_ENST00000401530.1_Nonsense_Mutation_p.K569*|VIT_ENST00000389975.3_Nonsense_Mutation_p.K590*|VIT_ENST00000497382.1_Nonsense_Mutation_p.K259* NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 590 VWFA 2. proteinaceous extracellular matrix 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) CAAGAAGTCCAAGCCCAACAA 0.587000 6 32 0 0 0.001168 0 0 GRIP2 80852 broad.mit.edu 37 3 14564574 14564574 + RNA SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:14564574G>T ENST00000273083.3 - 0 564 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 CCATCTTCATGGGCACCTCCT 0.602000 18 37 1.67942e-08 2.72098e-08 0.006122 1 0 GYPE 2996 broad.mit.edu 37 4 144826671 144826671 + Translation_Start_Site SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:144826671C>T ENST00000358615.4 - 0 41 GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame NM_198682.2 NP_941391.2 P15421 GLPE_HUMAN glycophorin E (MNS blood group) integral to plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 all_hematologic(180;0.158) CCTGAGATCACGAGCTGGCTC 0.398000 4 44 0 0 0.000248 0 0 MLF2 8079 broad.mit.edu 37 12 6857982 6857982 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:6857982C>A ENST00000203630.5 - 8 1370 c.726G>T c.(724-726)caG>caT p.Q242H MLF2_ENST00000542154.1_Missense_Mutation_p.Q242H|MLF2_ENST00000435120.1_Missense_Mutation_p.Q242H|MLF2_ENST00000539187.1_Missense_Mutation_p.Q242H Q15773 MLF2_HUMAN myeloid leukemia factor 2 242 defense response cytoplasm|nucleus protein binding kidney(2)|large_intestine(3)|lung(4) 9 AGCGGCGGGACTGTCGGGAAG 0.682000 13 48 2.31682e-05 3.14826e-05 0.003163 1 0 PTPRD 5789 broad.mit.edu 37 9 8517929 8517929 + Missense_Mutation SNP A A C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:8517929A>C ENST00000381196.4 - 18 2005 c.1462T>G c.(1462-1464)Tat>Gat p.Y488D PTPRD_ENST00000540109.1_Missense_Mutation_p.Y488D|PTPRD_ENST00000486161.1_Missense_Mutation_p.Y488D|PTPRD_ENST00000356435.5_Missense_Mutation_p.Y488D|PTPRD_ENST00000355233.5_Missense_Mutation_p.Y488D|PTPRD_ENST00000397606.3_Missense_Mutation_p.Y478D|PTPRD_ENST00000397611.3_Missense_Mutation_p.Y485D|PTPRD_ENST00000360074.4_Missense_Mutation_p.Y475D|PTPRD_ENST00000397617.3_Missense_Mutation_p.Y478D|PTPRD_ENST00000537002.1_Missense_Mutation_p.Y485D|PTPRD_ENST00000358503.5_Missense_Mutation_p.Y475D NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 488 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) TTGACAGAATATGTTTTCTGG 0.428000 TSP Lung(15;0.13) 9 46 0 0 0.006214 0 0 SNRPB 6628 broad.mit.edu 37 20 2442427 2442427 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:2442427G>A ENST00000438552.2 - 7 860 c.698C>T c.(697-699)cCg>cTg p.P233L SNRPB_ENST00000381342.2_3'UTR NM_198216.1 NP_937859.1 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptides B and B1 233 Repeat-rich region. histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 10 GCGCATTCCCGGGGGAGGGGG 0.552000 4 61 0 0 0.001984 0 0 SPATA18 132671 broad.mit.edu 37 4 52943004 52943004 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:52943004G>C ENST00000295213.4 + 7 1192 c.818G>C c.(817-819)aGa>aCa p.R273T SPATA18_ENST00000419395.2_Missense_Mutation_p.R241T NM_145263.2 NP_660306.1 Q8TC71 MIEAP_HUMAN spermatogenesis associated 18 273 Ser-rich. mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) AGCCGCAGCAGATCTGCCAGC 0.632000 4 25 0 0 0.000248 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8651528 8651528 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:8651528C>G ENST00000270328.4 - 19 2583 c.2317G>C c.(2317-2319)Ggg>Cgg p.G773R ADAMTS10_ENST00000595838.1_Missense_Mutation_p.G260R|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.G773R Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 773 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 AAGGTGGTCCCAGCTAGAGGC 0.632000 OREG0025221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 66 0 0 0.001368 0 0 BEND2 139105 broad.mit.edu 37 X 18194204 18194204 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:18194204G>T ENST00000380033.4 - 11 1772 c.1640C>A c.(1639-1641)gCa>gAa p.A547E BEND2_ENST00000380030.3_Missense_Mutation_p.A456E NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 547 BEN 1. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 AAAAGTTGTTGCCAGATATTC 0.323000 10 32 3.07112e-06 4.36695e-06 0.000978 1 0 PCDHA1 56147 broad.mit.edu 37 5 140166634 140166634 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:140166634G>C ENST00000504120.2 + 1 759 c.759G>C c.(757-759)gaG>gaC p.E253D PCDHA1_ENST00000378133.3_Missense_Mutation_p.E253D|PCDHA1_ENST00000394633.3_Missense_Mutation_p.E253D NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTTGTTAGAGACTACAGCAA 0.468000 9 56 0 0 0.008291 0 0 EPHB2 2048 broad.mit.edu 37 1 23111389 23111389 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:23111389C>T ENST00000400191.3 + 3 649 c.631C>T c.(631-633)Ctg>Ttg p.L211L EPHB2_ENST00000374630.3_Silent_p.L211L|EPHB2_ENST00000374627.1_Silent_p.L205L|EPHB2_ENST00000374632.3_Silent_p.L211L|EPHB2_ENST00000544305.1_Silent_p.L211L NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 211 Cys-rich. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCAGGAAACCCTGTCGGGGGC 0.612000 6 29 0 0 0.001168 0 0 GLI3 2737 broad.mit.edu 37 7 42065849 42065849 + Silent SNP A A C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:42065849A>C ENST00000395925.3 - 8 1275 c.1191T>G c.(1189-1191)ccT>ccG p.P397P GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 397 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 TCAGAACCGTAGGGATCCCTG 0.602000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 4 18 0 0 0.000248 0 0 LRFN2 57497 broad.mit.edu 37 6 40400435 40400435 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:40400435C>T ENST00000338305.6 - 2 960 c.418G>A c.(418-420)Gca>Aca p.A140T NM_020737.1 NP_065788.1 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III domain containing 2 140 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) GCCTCATCTGCGATGCCGCCC 0.592000 11 19 0 0 0.000978 0 0 DLAT 1737 broad.mit.edu 37 11 111915913 111915913 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:111915913A>G ENST00000280346.6 + 9 1908 c.1249A>G c.(1249-1251)Aca>Gca p.T417A DLAT_ENST00000537636.1_Missense_Mutation_p.T188A|DLAT_ENST00000393051.1_Missense_Mutation_p.T312A NM_001931.4 NP_001922.2 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase 417 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) ACCAGTTCCTACAGGTGTCTT 0.468000 40 96 0 0 0.002222 0 0 MROH5 389690 broad.mit.edu 37 8 142476535 142476535 + RNA SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:142476535G>T ENST00000430863.1 - 0 2531 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 AGATGTTCAGGAAGGTGGCCA 0.647000 7 12 8.12818e-05 0.000103758 0.001984 1 0 RDH12 145226 broad.mit.edu 37 14 68191237 68191237 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:68191237G>C ENST00000551171.1 + 4 440 c.116G>C c.(115-117)gGc>gCc p.G39A RDH12_ENST00000267502.3_Missense_Mutation_p.G39A|RDH12_ENST00000539142.1_Missense_Mutation_p.G39A NM_152443.2 NP_689656.2 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 39 photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4) 12 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) CAGCTTCCTGGCAAGGTAGTG 0.532000 13 65 0 0 0.002450 0 0 MYH7 4625 broad.mit.edu 37 14 23885422 23885422 + Nonsense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:23885422C>A ENST00000355349.3 - 34 4906 c.4744G>T c.(4744-4746)Gag>Tag p.E1582* NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1582 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGTTCCATCTCCTCGTCCTTC 0.642000 31 111 9.65021e-13 1.80173e-12 0.002096 1 0 PACSIN1 29993 broad.mit.edu 37 6 34497300 34497300 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:34497300G>T ENST00000538621.1 + 5 828 c.583G>T c.(583-585)Gtg>Ttg p.V195L PACSIN1_ENST00000244458.2_Missense_Mutation_p.V195L|PACSIN1_ENST00000374043.2_Missense_Mutation_p.V153L|PACSIN1_ENST00000486120.1_3'UTR NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 195 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 GCAGGACAAAGTGGACAAGTG 0.587000 15 32 3.45872e-05 4.67169e-05 0.004007 1 0 ANKRD50 57182 broad.mit.edu 37 4 125591053 125591053 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:125591053T>C ENST00000504087.1 - 4 4416 c.3379A>G c.(3379-3381)Aaa>Gaa p.K1127E ANKRD50_ENST00000515641.1_Missense_Mutation_p.K948E NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1127 Ser-rich. NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 GACTGCACTTTTGAAGACAAT 0.398000 6 74 0 0 0.001168 0 0 ZNF536 9745 broad.mit.edu 37 19 31040321 31040321 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:31040321G>T ENST00000355537.3 + 4 3942 c.3795G>T c.(3793-3795)ctG>ctT p.L1265L NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 1265 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TGAACATGCTGTCGGTCCTCA 0.587000 11 14 6.40141e-05 8.32925e-05 0.000978 1 0 C7orf60 154743 broad.mit.edu 37 7 112579683 112579683 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:112579683C>G ENST00000297145.4 - 1 288 c.123G>C c.(121-123)aaG>aaC p.K41N NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 41 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 GGTGGACGCTCTTCACCACAC 0.647000 4 43 0 0 0.000248 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 5 10 0 0 0.001984 0 0 ZNF117 51351 broad.mit.edu 37 7 64438556 64438556 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:64438556T>A ENST00000282869.5 - 4 2677 c.1393A>T c.(1393-1395)Ata>Tta p.I465L NM_015852.3 NP_056936.2 Q03924 ZN117_HUMAN zinc finger protein 117 465 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1) 22 Lung NSC(55;0.0295)|all_lung(88;0.0691) GTATGAATTATCTTATGTGTA 0.353000 6 31 0 0 0.001168 0 0 FCER1G 2207 broad.mit.edu 37 1 161188716 161188716 + Nonsense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:161188716G>T ENST00000289902.1 + 5 269 c.244G>T c.(244-246)Gag>Tag p.E82* FCER1G_ENST00000490414.1_3'UTR|FCER1G_ENST00000367992.3_Intron NM_004106.1 NP_004097.1 P30273 FCERG_HUMAN Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide 82 ITAM. platelet activation integral to plasma membrane endometrium(1)|lung(5) 6 all_cancers(52;1.35e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Benzylpenicilloyl Polylysine(DB00895) TCTGAAGCATGAGAAACCACC 0.532000 7 43 0.00307968 0.00351219 0.003080 1 0 KIAA0232 9778 broad.mit.edu 37 4 6865538 6865538 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:6865538A>G ENST00000307659.5 + 7 3884 c.3429A>G c.(3427-3429)atA>atG p.I1143M KIAA0232_ENST00000425103.1_Missense_Mutation_p.I1143M NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 1143 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 AAGTTGATATATTTGAAGATC 0.418000 9 24 0 0 0.006214 0 0 ADAM28 10863 broad.mit.edu 37 8 24201028 24201028 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:24201028C>T ENST00000265769.4 + 18 2031 c.1921C>T c.(1921-1923)Cat>Tat p.H641Y ADAM28_ENST00000397649.3_Missense_Mutation_p.H388Y|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 641 EGF-like. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) GGTGTGTGACCATGAGCTCCA 0.488000 5 11 0 0 0.000602 0 0 FRG1B 284802 broad.mit.edu 37 20 29623199 29623199 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:29623199C>A ENST00000278882.3 + 3 391 c.11C>A c.(10-12)cCt>cAt p.P4H FRG1B_ENST00000358464.4_Missense_Mutation_p.P4H|FRG1B_ENST00000439954.2_Silent_p.T5T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAGGGAACCTATATACATG 0.383000 11 487 6.94344e-10 1.18478e-09 0.006122 1 0 PPRC1 23082 broad.mit.edu 37 10 103906707 103906707 + Nonsense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:103906707C>T ENST00000278070.2 + 9 3997 c.3958C>T c.(3958-3960)Cga>Tga p.R1320* PPRC1_ENST00000370012.1_Nonsense_Mutation_p.R287*|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 1320 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) GGTGGGCTCCCGATGGAATGT 0.602000 5 30 0 0 0.001168 0 0 ACACA 31 broad.mit.edu 37 17 35627714 35627714 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:35627714G>A ENST00000353139.5 - 10 1528 c.1047C>T c.(1045-1047)gcC>gcT p.A349A ACACA_ENST00000394406.2_Silent_p.A312A|ACACA_ENST00000360679.3_Silent_p.A254A|ACACA_ENST00000335166.5_Silent_p.A234A NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 312 ATP-grasp.|Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTCCCTCTGAGGCCTTGATCA 0.388000 33 127 0 0 0.002836 0 0 PGK2 5232 broad.mit.edu 37 6 49754005 49754005 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:49754005C>T ENST00000304801.3 - 1 1048 c.896G>A c.(895-897)gGa>gAa p.G299E NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 299 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) AGTGGCTTTTCCAACCTGAGC 0.453000 47 87 0 0 0.003610 0 0 SERPINA6 866 broad.mit.edu 37 14 94780929 94780929 + Silent SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:94780929G>C ENST00000341584.3 - 2 203 c.57C>G c.(55-57)acC>acG p.T19T NM_001756.3 NP_001747.2 P08185 CBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 19 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 26 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) TGGCCTGGACGGTCCAGAGGC 0.547000 21 101 0 0 0.001882 0 0 GPR65 8477 broad.mit.edu 37 14 88477406 88477406 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:88477406A>T ENST00000267549.3 + 2 773 c.215A>T c.(214-216)gAt>gTt p.D72V RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 72 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 TTATGGATTGATTATACCTGG 0.393000 10 89 0 0 0.006214 0 0 OGDHL 55753 broad.mit.edu 37 10 50946118 50946118 + Splice_Site SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:50946118C>A ENST00000374103.4 - 19 2477 c.2391_splice c.e19-1 p.A798_splice OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Splice_Site_p.A741_splice|OGDHL_ENST00000432695.1_Splice_Site_p.A589_splice NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 798 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TTGGTGAATGCCTGTGGGGAC 0.622000 10 79 0.000442599 0.000536532 0.006214 1 0 RANBP17 64901 broad.mit.edu 37 5 170341170 170341170 + Splice_Site SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:170341170G>T ENST00000523189.1 + 8 924 c.e8-1 NM_022897.3 NP_075048.1 Q9H2T7 RBP17_HUMAN RAN binding protein 17 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 50 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TTTTTTCCCAGTTTTCCTGGA 0.333000 T TRD@ ALL 3 32 0.00024832 0.000308796 0.000248 1 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 50 0 0 0.000602 0 0 FURIN 5045 broad.mit.edu 37 15 91421384 91421384 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:91421384G>T ENST00000268171.3 + 8 969 c.690G>T c.(688-690)gaG>gaT p.E230D NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 230 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity p.G229_D233delGEVTD(1) breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) TGGATGGCGAGGTGACAGATG 0.662000 12 53 1.05317e-09 1.77904e-09 0.002450 1 0 PDHA2 5161 broad.mit.edu 37 4 96761915 96761915 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:96761915C>A ENST00000295266.4 + 1 677 c.614C>A c.(613-615)gCt>gAt p.A205D NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 205 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) ATAGCCGAAGCTTTCAATATG 0.458000 10 41 7.48243e-07 1.09873e-06 0.006214 1 0 NES 10763 broad.mit.edu 37 1 156640315 156640315 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:156640315C>A ENST00000368223.3 - 4 3797 c.3665G>T c.(3664-3666)aGc>aTc p.S1222I NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1222 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTACGTTGGGCTGGGGGAGAC 0.647000 19 83 2.4624e-09 4.03809e-09 0.008871 1 0 PIEZO2 63895 broad.mit.edu 37 18 10681740 10681740 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:10681740G>T ENST00000302079.6 - 46 7168 c.7169C>A c.(7168-7170)aCa>aAa p.T2390K PIEZO2_ENST00000538948.1_Missense_Mutation_p.T410K|PIEZO2_ENST00000503781.3_Missense_Mutation_p.T2453K|PIEZO2_ENST00000285141.4_Missense_Mutation_p.T245K|PIEZO2_ENST00000580640.1_Missense_Mutation_p.T2478K Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2422 integral to membrane ion channel activity GGCACTCATTGTGAAAATAGG 0.388000 13 73 0.00185496 0.00215931 0.001855 1 0 MOGAT1 116255 broad.mit.edu 37 2 223574461 223574461 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:223574461G>T ENST00000446656.3 + 6 860 c.860G>T c.(859-861)cGc>cTc p.R287L NM_058165.2 NP_477513.2 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 287 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) GCAGTTGGCCGCCCGATCCCT 0.502000 22 110 4.72057e-08 7.45121e-08 0.003954 1 0 RGR 5995 broad.mit.edu 37 10 86004867 86004867 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:86004867G>T ENST00000359452.4 + 1 59 c.21G>T c.(19-21)ctG>ctT p.L7L RGR_ENST00000372092.3_Silent_p.L7L|RGR_ENST00000358110.5_Silent_p.L7L NM_001012720.1|NM_002921.3 NP_001012738.1|NP_002912.2 P47804 RGR_HUMAN retinal G protein coupled receptor 7 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 CCAGTGCCCTGCCCACTGGCT 0.657000 5 33 1.6384e-10 2.86826e-10 0.001984 1 0 OR51T1 401665 broad.mit.edu 37 11 4903521 4903521 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:4903521C>A ENST00000380378.1 + 1 473 c.473C>A c.(472-474)cCa>cAa p.P158Q OR51T1_ENST00000322049.1_Missense_Mutation_p.P131Q|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004759.1 NP_001004759.1 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, member 1 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCTGTAACCCACTGAACTAT 0.498000 26 48 5.49717e-05 7.26488e-05 0.003330 1 0 UNC5C 8633 broad.mit.edu 37 4 96091391 96091391 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:96091391G>T ENST00000453304.1 - 15 2892 c.2544C>A c.(2542-2544)atC>atA p.I848I NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 848 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) GCTTCTGCCGGATAGGGAGAG 0.592000 35 99 1.47244e-24 3.04426e-24 0.006230 1 0 TSIX 9383 broad.mit.edu 37 X 73044429 73044429 + RNA SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:73044429A>T ENST00000604411.1 + 0 32390 XIST_ENST00000429829.1_lincRNA NR_003255.2 TGGTTTAACTATACAATGAGA 0.294000 3 11 0 0 0.004672 0 0 FGA 2243 broad.mit.edu 37 4 155505732 155505732 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:155505732G>T ENST00000302053.3 - 6 2223 c.2145C>A c.(2143-2145)caC>caA p.H715Q NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 715 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GGGTTAGTAAGTGGAGGTAGT 0.502000 19 85 1.33834e-09 2.23831e-09 0.007413 1 0 THBS2 7058 broad.mit.edu 37 6 169648888 169648888 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:169648888A>G ENST00000366787.3 - 4 482 c.233T>C c.(232-234)aTg>aCg p.M78T NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 78 Heparin-binding (Potential).|TSP N-terminal. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CTTCTGCCGCATGATCTTGGT 0.647000 16 21 0 0 0.003163 0 0 PAK1 5058 broad.mit.edu 37 11 77064628 77064628 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:77064628C>A ENST00000356341.3 - 8 1320 c.789G>T c.(787-789)gtG>gtT p.V263V PAK1_ENST00000525542.1_Intron|PAK1_ENST00000278568.4_Silent_p.V263V|PAK1_ENST00000530617.1_Silent_p.V263V|PAK1_ENST00000528203.1_Silent_p.V165V NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 263 Interaction with CRIPAK. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) TAGGATCGCCCACACTCACTA 0.413000 17 28 2.35188e-11 4.24978e-11 0.006122 1 0 ATF4P4 100127952 broad.mit.edu 37 11 113660417 113660417 + RNA SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:113660417T>A ENST00000393544.2 + 0 465 CCAGAACCTGTGTGAGAAAGA 0.562000 3 4 0 0 0.000248 0 0 MUC16 94025 broad.mit.edu 37 19 9088580 9088580 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:9088580A>G ENST00000397910.4 - 1 3438 c.3235T>C c.(3235-3237)Tca>Cca p.S1079P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1079 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 ACTGACATTGAGACACTTTCT 0.453000 4 45 0 0 0.000248 0 0 FRY 10129 broad.mit.edu 37 13 32835909 32835909 + Nonsense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:32835909G>T ENST00000380250.3 + 52 8069 c.7573G>T c.(7573-7575)Gag>Tag p.E2525* NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2525 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ATCATCCGAGGAGGAGGACCT 0.493000 4 33 0.00024832 0.000308796 0.000248 1 0 NAV2 89797 broad.mit.edu 37 11 20066649 20066649 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:20066649C>A ENST00000396085.1 + 14 3696 c.3335C>A c.(3334-3336)aCa>aAa p.T1112K NAV2_ENST00000533917.1_Missense_Mutation_p.T198K|NAV2_ENST00000311043.8_Missense_Mutation_p.T198K|NAV2_ENST00000396087.3_Missense_Mutation_p.T1135K|NAV2_ENST00000349880.4_Missense_Mutation_p.T1112K|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Missense_Mutation_p.T1066K|NAV2_ENST00000527559.2_Missense_Mutation_p.T1064K|NAV2_ENST00000360655.4_Missense_Mutation_p.T1048K NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1135 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 AGCTCTAGGACACCTACTGCC 0.602000 10 44 0.000442599 0.000536532 0.006214 1 0 SIGLEC6 946 broad.mit.edu 37 19 52034735 52034735 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:52034735G>T ENST00000346477.3 - 2 174 c.106C>A c.(106-108)Cca>Aca p.P36T SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P36T|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P36T|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P36T|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P36T NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 36 Ig-like V-type. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) AGTGACTCTGGCCCCTCCAGC 0.632000 8 41 0.000274275 0.000337338 0.004482 1 0 PRRG3 79057 broad.mit.edu 37 X 150869328 150869328 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:150869328C>A ENST00000370353.3 + 4 909 c.519C>A c.(517-519)agC>agA p.S173R PRRG3_ENST00000538575.1_Missense_Mutation_p.S173R Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 173 extracellular region|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) GGCTAGAGAGCACCCTCTACC 0.667000 11 22 5.16669e-11 9.21256e-11 0.000978 1 0 ABCA9 10350 broad.mit.edu 37 17 67022604 67022604 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:67022604C>T ENST00000340001.4 - 16 2266 c.2055G>A c.(2053-2055)agG>agA p.R685R ABCA9_ENST00000453985.2_Silent_p.R685R|ABCA9_ENST00000370732.2_Silent_p.R685R NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 685 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) TGAACACCTTCCTGTCTAGTT 0.368000 5 114 0 0 0.000602 0 0 ZFP64 55734 broad.mit.edu 37 20 50713933 50713933 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:50713933G>A ENST00000361387.2 - 7 1015 c.955C>T c.(955-957)Cgc>Tgc p.R319C ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371523.4_Missense_Mutation_p.R100C|ZFP64_ENST00000371518.2_Missense_Mutation_p.R319C NM_199427.2 NP_955459.2 Q9NPA5 ZF64A_HUMAN ZFP64 zinc finger protein 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 33 CTGAGATGGCGGTCCAAGTCT 0.408000 42 166 0 0 0.002852 0 0 CDH9 1007 broad.mit.edu 37 5 26881513 26881513 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:26881513C>A ENST00000231021.4 - 12 2274 c.2102G>T c.(2101-2103)aGg>aTg p.R701M NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 701 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CACAGTCCTCCTTATCTGAAA 0.408000 49 60 6.17242e-35 1.28799e-34 0.003610 1 0 HBB 3043 broad.mit.edu 37 11 5246840 5246840 + Missense_Mutation SNP G G T rs33918338 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:5246840G>T ENST00000335295.3 - 3 607 c.432C>A c.(430-432)caC>caA p.H144Q NM_000518.4 NP_000509.1 P68871 HBB_HUMAN hemoglobin, beta 144 H -> D (in Rancho Mirage).|H -> P (in Syracuse; O(2) affinity up).|H -> Q (in Little Rock; O(2) affinity up).|H -> R (in Abruzzo; O(2) affinity up). blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1) 15 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) AGTGATACTTGTGGGCCAGGG 0.488000 Sickle Cell Trait 14 74 0.000308642 0.000378916 0.003163 1 0 PHF19 26147 broad.mit.edu 37 9 123628067 123628067 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:123628067T>A ENST00000373896.3 - 9 1073 c.821A>T c.(820-822)cAg>cTg p.Q274L PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_Missense_Mutation_p.Q65L NM_015651.1 NP_056466.1 Q5T6S3 PHF19_HUMAN PHD finger protein 19 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CTTCTTGCTCTGTACCCCCAG 0.572000 27 54 0 0 0.007291 0 0 C9orf3 84909 broad.mit.edu 37 9 97522328 97522328 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:97522328G>A ENST00000375315.2 + 1 263 c.263G>A c.(262-264)aGg>aAg p.R88K C9orf3_ENST00000297979.5_Missense_Mutation_p.R88K|C9orf3_ENST00000277198.2_Missense_Mutation_p.R88K NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 88 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) ACAAATGCAAGGACCTTCTCA 0.393000 21 47 0 0 0.001882 0 0 SF3B2 10992 broad.mit.edu 37 11 65828200 65828200 + Nonsense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:65828200G>T ENST00000528302.1 + 13 1780 c.1726G>T c.(1726-1728)Gag>Tag p.E576* SF3B2_ENST00000322535.6_Nonsense_Mutation_p.E593* Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 593 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 CCTGTACTATGAGGTTCGGGA 0.483000 10 53 0.000673444 0.000800531 0.008291 1 0 TRPM2 7226 broad.mit.edu 37 21 45821588 45821588 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr21:45821588C>A ENST00000397928.1 + 16 2791 c.2346C>A c.(2344-2346)ggC>ggA p.G782G TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.G782G|TRPM2_ENST00000300481.9_Silent_p.G762G|TRPM2_ENST00000397932.2_Silent_p.G782G NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 782 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 AGGATGTGGGCACCCCCGCGG 0.662000 15 36 4.93089e-13 9.33545e-13 0.002450 1 0 CLTCL1 8218 broad.mit.edu 37 22 19175104 19175104 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr22:19175104C>T ENST00000263200.10 - 29 4643 c.4571G>A c.(4570-4572)aGc>aAc p.S1524N CLTCL1_ENST00000427926.1_Missense_Mutation_p.S1524N|CLTCL1_ENST00000353891.5_Intron|CLTCL1_ENST00000442042.2_Intron NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1524 Heavy chain arm.|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) GAGCTCCACGCTCTGGGCCCA 0.567000 T ? ALCL 6 42 0 0 0.001168 0 0 LINC00202-2 731789 broad.mit.edu 37 10 26939566 26939566 + RNA SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:26939566G>T ENST00000544033.1 + 0 5499 NR_026794.1 AGAGGCCCAGGCACATGCTGA 0.557000 12 37 6.40141e-05 8.32925e-05 0.000978 1 0 FCRL1 115350 broad.mit.edu 37 1 157771743 157771743 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:157771743C>A ENST00000358292.3 - 5 899 c.848G>T c.(847-849)gGg>gTg p.G283V FCRL1_ENST00000491942.1_Missense_Mutation_p.G283V|FCRL1_ENST00000368176.3_Missense_Mutation_p.G283V|FCRL1_ENST00000489998.1_5'UTR NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 283 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) GCGCTGGGCCCCCAGGCCATT 0.572000 15 55 1.15088e-07 1.77911e-07 0.004007 1 0 DUSP27 92235 broad.mit.edu 37 1 167095924 167095924 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:167095924A>T ENST00000361200.2 + 6 1722 c.1556A>T c.(1555-1557)gAt>gTt p.D519V DUSP27_ENST00000271385.5_Missense_Mutation_p.D519V|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.D519V Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 519 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CGGGAGGATGATGAGGACAGC 0.567000 14 36 0 0 0.001855 0 0 NID1 4811 broad.mit.edu 37 1 236201536 236201536 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:236201536C>A ENST00000264187.6 - 5 1235 c.1153G>T c.(1153-1155)Gat>Tat p.D385Y NID1_ENST00000366595.3_Missense_Mutation_p.D385Y NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 385 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) TGGCGGGAATCCGTGTTATAG 0.552000 15 71 3.52763e-06 5.00552e-06 0.004990 1 0 GLUD2 2747 broad.mit.edu 37 X 120182771 120182771 + Silent SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:120182771A>G ENST00000328078.1 + 1 1310 c.1233A>G c.(1231-1233)ccA>ccG p.P411P NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 411 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) CAACAACTCCAGAAGCTGATA 0.463000 27 151 0 0 0.006320 0 0 AIRE 326 broad.mit.edu 37 21 45707006 45707006 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr21:45707006C>T ENST00000291582.5 + 3 580 c.453C>T c.(451-453)acC>acT p.T151T NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator 151 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) CAAGGGGCACCGCCAGCCCAG 0.706000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 12 31 0 0 0.000978 0 0 MUC6 4588 broad.mit.edu 37 11 1017315 1017315 + Missense_Mutation SNP G G C rs71472140 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:1017315G>C ENST00000421673.2 - 31 5536 c.5486C>G c.(5485-5487)cCa>cGa p.P1829R NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1829 Approximate repeats.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGGGTGTGATGGGGTTGGATA 0.552000 48 703 0 0 0.003610 0 0 RTTN 25914 broad.mit.edu 37 18 67794893 67794893 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:67794893G>A ENST00000255674.6 - 25 3514 c.3228C>T c.(3226-3228)ctC>ctT p.L1076L RTTN_ENST00000437017.1_Silent_p.L1076L|RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1076 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) CAATGGAATGGAGGCAGTCCT 0.438000 6 26 0 0 0.001984 0 0 USP1 7398 broad.mit.edu 37 1 62916107 62916107 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:62916107A>T ENST00000339950.4 + 9 2628 c.1813A>T c.(1813-1815)Agt>Tgt p.S605C USP1_ENST00000371146.1_Missense_Mutation_p.S605C NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 605 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) TGACCTTAACAGTTTAGAACT 0.398000 9 37 0 0 0.004482 0 0 EPHA10 284656 broad.mit.edu 37 1 38230655 38230655 + Nonsense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:38230655C>T ENST00000373048.4 - 1 83 c.84G>A c.(82-84)tgG>tgA p.W28* EPHA10_ENST00000427468.2_Nonsense_Mutation_p.W28*|EPHA10_ENST00000319637.6_Nonsense_Mutation_p.W28* NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 28 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCCCAGGCCGCCAGGGTCCCA 0.657000 5 13 0 0 0.000602 0 0 CLIP3 25999 broad.mit.edu 37 19 36508345 36508345 + Nonsense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:36508345C>A ENST00000360535.4 - 12 1686 c.1459G>T c.(1459-1461)Gga>Tga p.G487* AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Nonsense_Mutation_p.G487* NM_015526.2 NP_056341.1 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 487 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TCAGTGGATCCGCCAATCCTG 0.567000 13 45 1.05317e-09 1.77904e-09 0.002450 1 0 CLEC4D 338339 broad.mit.edu 37 12 8670779 8670779 + Silent SNP A A C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:8670779A>C ENST00000299665.2 + 3 334 c.141A>C c.(139-141)tcA>tcC p.S47S NM_080387.4 NP_525126.2 Q8WXI8 CLC4D_HUMAN C-type lectin domain family 4, member D 47 innate immune response integral to membrane sugar binding large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Lung SC(5;0.184) ACAACTTTTCACGCTGTAAGA 0.398000 6 6 0 0 0.001984 0 0 SLC25A51 92014 broad.mit.edu 37 9 37888039 37888039 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:37888039C>A ENST00000377716.2 - 3 1252 c.509G>T c.(508-510)gGa>gTa p.G170V SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000242275.6_Missense_Mutation_p.G170V|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000380590.3_Missense_Mutation_p.G170V Q9H1U9 MCAR1_HUMAN solute carrier family 25, member 51 170 transport integral to membrane|mitochondrial inner membrane ATAATACTCTCCAATTCCATG 0.458000 8 77 0.00307968 0.00351219 0.003080 1 0 IFITM2 10581 broad.mit.edu 37 11 308242 308242 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:308242C>T ENST00000399817.4 + 1 80 c.50C>T c.(49-51)cCc>cTc p.P17L IFITM2_ENST00000602569.1_5'UTR|IFITM2_ENST00000533141.1_5'UTR NM_006435.2 NP_006426.2 Q01629 IFM2_HUMAN interferon induced transmembrane protein 2 17 response to virus|type I interferon-mediated signaling pathway integral to membrane|plasma membrane protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122) GGCCAGCCTCCCAACTACGAG 0.602000 12 107 0 0 0.000978 0 0 REG1P 5969 broad.mit.edu 37 2 79364411 79364411 + RNA SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:79364411C>A ENST00000444841.1 - 0 223 GCCTTAGGCACTGGTGCCTTC 0.537000 3 22 0.004672 0.00521346 0.004672 1 0 GRIP2 80852 broad.mit.edu 37 3 14564646 14564646 + RNA SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:14564646C>A ENST00000273083.3 - 0 556 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 GAGGCTCCCACACAGCCCCTG 0.542000 9 15 0.000442599 0.000536532 0.006214 1 0 KCNH5 27133 broad.mit.edu 37 14 63417223 63417223 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:63417223G>T ENST00000322893.7 - 7 1265 c.997C>A c.(997-999)Cgt>Agt p.R333S KCNH5_ENST00000394968.1_Missense_Mutation_p.R275S|KCNH5_ENST00000420622.2_Missense_Mutation_p.R333S|KCNH5_ENST00000394964.2_Missense_Mutation_p.R275S NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 333 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTAGCCACACGGCCCAGTCGT 0.463000 14 52 1.52009e-12 2.82243e-12 0.003163 1 0 PCDHA5 56143 broad.mit.edu 37 5 140202993 140202993 + Missense_Mutation SNP G G A rs143450009 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:140202993G>A ENST00000529859.1 + 1 1633 c.1633G>A c.(1633-1635)Ggc>Agc p.G545S PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G545S|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G545S|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCGCCTCTGGGCAGCAACGT 0.701000 11 73 0 0 0.001855 0 0 NAV3 89795 broad.mit.edu 37 12 78522583 78522583 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:78522583C>A ENST00000397909.2 + 18 4551 c.4378C>A c.(4378-4380)Cct>Act p.P1460T NAV3_ENST00000228327.6_Missense_Mutation_p.P1460T|NAV3_ENST00000536525.2_Missense_Mutation_p.P1460T|NAV3_ENST00000266692.7_Missense_Mutation_p.P1283T Q8IVL0 NAV3_HUMAN neuron navigator 3 1460 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CAACCAGTCACCTCTGGTTTC 0.443000 HNSCC(70;0.22) 11 43 1.58986e-06 2.2995e-06 0.008291 1 0 MAP3K12 7786 broad.mit.edu 37 12 53880347 53880347 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:53880347G>T ENST00000267079.2 - 4 631 c.406C>A c.(406-408)Cag>Aag p.Q136K MAP3K12_ENST00000547488.1_Missense_Mutation_p.Q169K|MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547035.1_Missense_Mutation_p.Q169K NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 136 Protein kinase. histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 ACAGCACCCTGGGCCCCTGAG 0.597000 3 16 6.4e-05 8.32925e-05 0.004672 1 0 OR56A3 390083 broad.mit.edu 37 11 5969347 5969347 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:5969347C>A ENST00000329564.6 + 1 778 c.771C>A c.(769-771)acC>acA p.T257T NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T257T(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCTTCAGCACCATCCTTCTGG 0.527000 16 104 0.00074312 0.000880251 0.006122 1 0 PHF12 57649 broad.mit.edu 37 17 27251018 27251018 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:27251018C>T ENST00000577226.1 - 4 970 c.624G>A c.(622-624)cgG>cgA p.R208R PHF12_ENST00000268756.3_Silent_p.R208R|PHF12_ENST00000332830.4_Silent_p.R208R|PHF12_ENST00000582655.1_5'UTR Q96QT6 PHF12_HUMAN PHD finger protein 12 208 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) GCTCAAAGGGCCGCCTCAGCT 0.562000 11 21 0 0 0.000978 0 0 CTNNA2 1496 broad.mit.edu 37 2 80801338 80801338 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:80801338G>T ENST00000466387.1 + 17 2516 c.1792G>T c.(1792-1794)Gcc>Tcc p.A598S CTNNA2_ENST00000361291.4_Missense_Mutation_p.A632S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A598S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A598S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A598S|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A277S|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A598S P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 598 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AGCCCTGAGTGCCAACGTTCC 0.488000 22 67 1.5548e-18 3.12816e-18 0.005443 1 0 OR2T12 127064 broad.mit.edu 37 1 248458764 248458764 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:248458764G>T ENST00000317996.1 - 1 116 c.117C>A c.(115-117)agC>agA p.S39R NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) TGAGGGCATTGCTAAACAGGG 0.512000 17 73 2.35188e-11 4.24978e-11 0.006122 1 0 AFF3 3899 broad.mit.edu 37 2 100210181 100210181 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:100210181C>T ENST00000317233.4 - 14 2177 c.1942G>A c.(1942-1944)Gag>Aag p.E648K AFF3_ENST00000409236.1_Missense_Mutation_p.E648K|AFF3_ENST00000409579.1_Missense_Mutation_p.E673K|AFF3_ENST00000356421.2_Missense_Mutation_p.E673K NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 648 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.E673*(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CGGCGCTTCTCGCAGGTCACG 0.637000 6 41 0 0 0.001984 0 0 MRC2 9902 broad.mit.edu 37 17 60749477 60749477 + Silent SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:60749477G>C ENST00000303375.5 + 8 1827 c.1425G>C c.(1423-1425)cgG>cgC p.R475R NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 475 C-type lectin 2. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 ACAACTTCCGGGACAGTCTGG 0.572000 13 71 0 0 0.002450 0 0 PCDH15 65217 broad.mit.edu 37 10 55581994 55581994 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:55581994G>A ENST00000361849.3 - 34 5892 c.5498C>T c.(5497-5499)cCt>cTt p.P1833L PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1791L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1762L|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1831L|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1808L|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1828L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1831 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGAAGCTgaaggaggtggagg 0.488000 HNSCC(58;0.16) 4 41 0 0 0.000248 0 0 TTN 7273 broad.mit.edu 37 2 179567254 179567254 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:179567254G>C ENST00000589042.1 - 107 30584 c.30360C>G c.(30358-30360)agC>agG p.S10120R TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S8876R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S9803R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9803 Glu-rich. 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) TGTATTTCTGGCTCTCTGTCA 0.458000 5 173 0 0 0.001168 0 0 UBE2S 27338 broad.mit.edu 37 19 55912895 55912895 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:55912895C>T ENST00000264552.9 - 4 765 c.578G>A c.(577-579)gGt>gAt p.G193D RPL28_ENST00000560055.1_Intron NM_014501.2 NP_055316.2 Q16763 UBE2S_HUMAN ubiquitin-conjugating enzyme E2S 193 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination anaphase-promoting complex ATP binding|ubiquitin-protein ligase activity lung(1) 1 Breast(117;0.155) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.11) GGCCATGGGACCCTCAGCCCC 0.701000 5 32 0 0 0.000602 0 0 CSMD1 64478 broad.mit.edu 37 8 2857539 2857539 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:2857539G>C ENST00000520002.1 - 54 8702 c.8147C>G c.(8146-8148)aCt>aGt p.T2716S CSMD1_ENST00000602557.1_Missense_Mutation_p.T2716S|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2657S|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2658S|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2715S|CSMD1_ENST00000602723.1_Missense_Mutation_p.T2658S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2716 Sushi 18. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCTCACGGAAGTTCCCACAAG 0.512000 12 76 0 0 0.002450 0 0 FRAS1 80144 broad.mit.edu 37 4 79205600 79205600 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:79205600G>C ENST00000264895.6 + 13 1737 c.1297G>C c.(1297-1299)Gac>Cac p.D433H FRAS1_ENST00000325942.6_Missense_Mutation_p.D433H|FRAS1_ENST00000264899.6_Missense_Mutation_p.D433H NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 433 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TCAGTCTCCAGACCACTGTGA 0.458000 47 143 0 0 0.003610 0 0 PAX2 5076 broad.mit.edu 37 10 102584444 102584444 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:102584444C>T ENST00000370296.2 + 9 1578 c.1028C>T c.(1027-1029)cCt>cTt p.P343L PAX2_ENST00000556085.1_Missense_Mutation_p.P319L|PAX2_ENST00000428433.1_Missense_Mutation_p.P343L|PAX2_ENST00000355243.3_Missense_Mutation_p.P320L|PAX2_ENST00000361791.3_Missense_Mutation_p.P320L Q02962 PAX2_HUMAN paired box 2 343 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) GGTTACCCCCCTCACGTGCCC 0.612000 18 64 0 0 0.008871 0 0 FOXP2 93986 broad.mit.edu 37 7 114269973 114269973 + Silent SNP A A G rs149757187 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:114269973A>G ENST00000393500.3 + 11 1105 c.285A>G c.(283-285)caA>caG p.Q95Q FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q O15409 FOXP2_HUMAN forkhead box P2 170 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q195Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcagcagcaacaacaacaac 0.502000 3 40 0 0 0.004672 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230536 140230536 + Nonsense_Mutation SNP T T G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:140230536T>G ENST00000378122.3 + 1 3180 c.2456T>G c.(2455-2457)tTa>tGa p.L819* PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATTATCGATTACTCCCAGGG 0.348000 11 65 0 0 0.008291 0 0 MRGPRD 116512 broad.mit.edu 37 11 68748403 68748403 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:68748403G>T ENST00000309106.3 - 1 52 c.53C>A c.(52-54)tCc>tAc p.S18Y NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 18 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GCTCCCTCTGGAATAGTTTAG 0.552000 10 35 2.17888e-05 2.9728e-05 0.006214 1 0 CDK17 5128 broad.mit.edu 37 12 96707213 96707213 + Silent SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:96707213T>C ENST00000261211.3 - 4 906 c.303A>G c.(301-303)ctA>ctG p.L101L CDK17_ENST00000542666.1_Silent_p.L48L|CDK17_ENST00000543119.2_Silent_p.L101L NM_001170464.2|NM_002595.4 NP_001163935.1|NP_002586.2 Q00537 CDK17_HUMAN cyclin-dependent kinase 17 101 ATP binding|cyclin-dependent protein kinase activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1) 37 ATCCCATTTTTAGATTTTCAT 0.313000 5 20 0 0 0.000602 0 0 LRP1B 53353 broad.mit.edu 37 2 141751612 141751612 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:141751612C>A ENST00000389484.3 - 16 3567 c.2596G>T c.(2596-2598)Ggc>Tgc p.G866C NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 866 LDL-receptor class A 3. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCATCGTCGCCATCACATTTC 0.433000 TSP Lung(27;0.18) 6 37 0.00116845 0.00136487 0.001168 1 0 TEKT4 150483 broad.mit.edu 37 2 95537426 95537426 + Silent SNP C C T rs34195690 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:95537426C>T ENST00000295201.4 + 1 239 c.102C>T c.(100-102)ttC>ttT p.F34F TEKT4_ENST00000427593.2_Silent_p.F34F|AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 34 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 CCGCCAGCTTCCGCACCTCCA 0.677000 6 31 0 0 0.001168 0 0 TUBB4A 10382 broad.mit.edu 37 19 6495189 6495189 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:6495189C>T ENST00000264071.2 - 4 1692 c.1321G>A c.(1321-1323)Gag>Aag p.E441K TUBB4A_ENST00000540257.1_Missense_Mutation_p.E441K P04350 TBB4_HUMAN tubulin, beta 4A class IVa 441 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity GCCACCTCCTCCTCCGCCTCC 0.632000 10 46 0 0 0.006214 0 0 ASXL3 80816 broad.mit.edu 37 18 31319095 31319095 + Nonsense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:31319095C>A ENST00000269197.5 + 11 1727 c.1727C>A c.(1726-1728)tCa>tAa p.S576* NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AAAACAGGGTCATCTTCTCTA 0.423000 6 13 3.59834e-05 4.79304e-05 0.001168 1 0 ZNF536 9745 broad.mit.edu 37 19 30934612 30934612 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:30934612C>A ENST00000355537.3 + 2 290 c.143C>A c.(142-144)cCc>cAc p.P48H NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 48 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CATGCCTTCCCCGAGCTCCAT 0.667000 19 65 5.35267e-07 8.03496e-07 0.007413 1 0 PLCL1 5334 broad.mit.edu 37 2 198949235 198949235 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:198949235G>A ENST00000428675.1 + 2 1392 c.994G>A c.(994-996)Gcc>Acc p.A332T PLCL1_ENST00000437704.2_Missense_Mutation_p.A234T NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 332 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) ATATTTGGATGCCAATGATCT 0.383000 6 52 0 0 0.001984 0 0 TP63 8626 broad.mit.edu 37 3 189526191 189526191 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:189526191C>A ENST00000264731.3 + 4 544 c.455C>A c.(454-456)cCc>cAc p.P152H TP63_ENST00000440651.2_Missense_Mutation_p.P152H|TP63_ENST00000392460.3_Missense_Mutation_p.P152H|TP63_ENST00000354600.5_Missense_Mutation_p.P58H|TP63_ENST00000449992.1_Intron|TP63_ENST00000418709.2_Missense_Mutation_p.P152H|TP63_ENST00000456148.1_Missense_Mutation_p.P58H|TP63_ENST00000392463.2_Missense_Mutation_p.P58H|TP63_ENST00000320472.5_Missense_Mutation_p.P152H|TP63_ENST00000392461.3_Missense_Mutation_p.P58H|TP63_ENST00000437221.1_Missense_Mutation_p.P58H|TP63_ENST00000382063.4_Intron NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 152 anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TACGCACAGCCCAGCTCCACC 0.622000 HNSCC(45;0.13) 17 53 0.00498961 0.00555867 0.004990 1 0 OR10C1 442194 broad.mit.edu 37 6 29408311 29408311 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:29408311C>A ENST00000444197.2 + 1 1229 c.519C>A c.(517-519)atC>atA p.I173I OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CCAATACCATCCCGCAGTTCT 0.587000 39 69 1.04594e-18 2.11701e-18 0.006230 1 0 OGDH 4967 broad.mit.edu 37 7 44737016 44737016 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:44737016G>C ENST00000222673.5 + 16 2141 c.2099G>C c.(2098-2100)tGc>tCc p.C700S OGDH_ENST00000449767.1_Missense_Mutation_p.C696S|OGDH_ENST00000444676.1_Missense_Mutation_p.C715S|OGDH_ENST00000447398.1_Missense_Mutation_p.C711S|OGDH_ENST00000439616.2_Missense_Mutation_p.C550S|OGDH_ENST00000543843.1_Missense_Mutation_p.C651S NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 700 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) AAGAGAACCTGCATCCCCATG 0.537000 12 38 0 0 0.000978 0 0 YES1 7525 broad.mit.edu 37 18 743036 743036 + Silent SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:743036T>C ENST00000584307.1 - 8 1112 c.942A>G c.(940-942)ccA>ccG p.P314P YES1_ENST00000314574.4_Silent_p.P314P|YES1_ENST00000577961.1_Silent_p.P319P P07947 YES_HUMAN v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 314 Protein kinase. blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation cytosol|plasma membrane ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Dasatinib(DB01254) GGAAAGCTTCTGGCATCATTG 0.318000 7 27 0 0 0.003080 0 0 PAX2 5076 broad.mit.edu 37 10 102539287 102539287 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:102539287A>T ENST00000370296.2 + 4 993 c.443A>T c.(442-444)cAc>cTc p.H148L PAX2_ENST00000556085.1_Missense_Mutation_p.H147L|PAX2_ENST00000428433.1_Missense_Mutation_p.H148L|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000355243.3_Missense_Mutation_p.H148L|PAX2_ENST00000361791.3_Missense_Mutation_p.H148L Q02962 PAX2_HUMAN paired box 2 148 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) CAGCCTTTCCACCCAACGCCG 0.582000 5 7 0 0 0.001168 0 0 SPAM1 6677 broad.mit.edu 37 7 123594058 123594058 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:123594058T>C ENST00000340011.5 + 3 791 c.434T>C c.(433-435)aTt>aCt p.I145T SPAM1_ENST00000460182.1_Missense_Mutation_p.I145T|SPAM1_ENST00000223028.7_Missense_Mutation_p.I145T|SPAM1_ENST00000402183.2_Missense_Mutation_p.I145T|SPAM1_ENST00000439500.1_Missense_Mutation_p.I145T NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 145 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) ATGGCTGTTATTGACTGGGAA 0.393000 14 35 0 0 0.002450 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871008 51871008 + Silent SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:51871008A>T ENST00000371497.5 + 2 1898 c.1011A>T c.(1009-1011)acA>acT p.T337T TSHZ2_ENST00000329613.6_Silent_p.T334T|TSHZ2_ENST00000603338.2_Silent_p.T334T NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 337 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) ATTCAACCACAGGATCTTTTG 0.498000 15 80 0 0 0.004990 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457979 45457979 + RNA SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:45457979G>T ENST00000548424.1 + 0 448 TGCTGTCACAGCCCAAGATCC 0.453000 8 52 2.74318e-10 4.75296e-10 0.006214 1 0 ADH1B 125 broad.mit.edu 37 4 100237122 100237122 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:100237122A>T ENST00000305046.8 - 5 567 c.500T>A c.(499-501)cTg>cAg p.L167Q ADH1B_ENST00000394887.3_Missense_Mutation_p.L127Q P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 167 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GACTTTCTCCAGGGGCGAGGC 0.522000 8 81 0 0 0.003080 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659593 24659593 + RNA SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr22:24659593C>T ENST00000414583.2 + 0 3118 NR_003714.1 TCACTGACATCGAAGGCTGCC 0.632000 3 11 0 0 0.000248 0 0 CCDC147 159686 broad.mit.edu 37 10 106128258 106128258 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:106128258G>T ENST00000369704.3 + 6 1004 c.870G>T c.(868-870)caG>caT p.Q290H CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 290 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) AGAATGAACAGCACAGTTTGG 0.438000 7 24 1.26484e-09 2.12595e-09 0.003080 1 0 SLC26A10 65012 broad.mit.edu 37 12 58019026 58019026 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:58019026G>T ENST00000320442.4 + 12 1697 c.1386G>T c.(1384-1386)gaG>gaT p.E462D SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR NM_133489.2 NP_597996.2 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 462 STAS. integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) TAGTTGCTGAGCCTGTCAGGG 0.552000 16 92 2.32078e-09 3.84326e-09 0.003163 1 0 CALCR 799 broad.mit.edu 37 7 93065450 93065450 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:93065450C>A ENST00000359558.2 - 14 1364 c.1065G>T c.(1063-1065)cgG>cgT p.R355R CALCR_ENST00000360249.4_Silent_p.R337R|CALCR_ENST00000426151.1_Silent_p.R321R|CALCR_ENST00000394441.1_Silent_p.R321R|CALCR_ENST00000421592.1_Silent_p.R337R NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 337 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TCACAAGCACCCGGACAATGT 0.453000 14 37 0.00316338 0.00360155 0.003163 1 0 NRCAM 4897 broad.mit.edu 37 7 107816895 107816895 + Missense_Mutation SNP G G T rs147348539 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:107816895G>T ENST00000379028.3 - 27 3601 c.3131C>A c.(3130-3132)gCa>gAa p.A1044E NRCAM_ENST00000351718.4_Missense_Mutation_p.A1028E|NRCAM_ENST00000425651.2_Missense_Mutation_p.A1044E|NRCAM_ENST00000413765.2_Missense_Mutation_p.A1025E|NRCAM_ENST00000379022.4_Missense_Mutation_p.A1044E|NRCAM_ENST00000379024.4_Missense_Mutation_p.A1025E Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 1044 Fibronectin type-III 4. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 AGTTGTTACTGCTTCCTCTGT 0.308000 14 58 1.15088e-07 1.77911e-07 0.004007 1 0 WSCD2 9671 broad.mit.edu 37 12 108589825 108589825 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:108589825G>T ENST00000332082.4 + 3 1034 c.216G>T c.(214-216)ctG>ctT p.L72L WSCD2_ENST00000261400.3_Silent_p.L72L|WSCD2_ENST00000547525.1_Silent_p.L72L|WSCD2_ENST00000549903.1_Silent_p.L72L Q2TBF2 WSCD2_HUMAN WSC domain containing 2 72 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 ACATGCATCTGGGCAGAGGTT 0.622000 15 106 1.5739e-10 2.76973e-10 0.004007 1 0 FAR2 55711 broad.mit.edu 37 12 29460703 29460703 + Silent SNP A A C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:29460703A>C ENST00000182377.4 + 5 926 c.658A>C c.(658-660)Agg>Cgg p.R220R RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Silent_p.R123R|FAR2_ENST00000536681.2_Silent_p.R220R NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 220 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 GCAAGAGAGCAGGAACCTGAA 0.483000 25 49 0 0 0.002780 0 0 DIO3 1735 broad.mit.edu 37 14 102027990 102027990 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:102027990C>T ENST00000510508.4 + 1 303 c.157C>T c.(157-159)Ctc>Ttc p.L53F DIO3_ENST00000359323.3_Missense_Mutation_p.L27F P55073 IOD3_HUMAN deiodinase, iodothyronine, type III 27 Q -> K (in Ref. 1; AAB35616). cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) CCCGCGCTTCCTCGGCACGGC 0.672000 4 43 0 0 0.000602 0 0 KIF27 55582 broad.mit.edu 37 9 86530457 86530457 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:86530457C>A ENST00000297814.2 - 2 193 c.50G>T c.(49-51)tGc>tTc p.C17F KIF27_ENST00000334204.2_Missense_Mutation_p.C17F|KIF27_ENST00000413982.1_Missense_Mutation_p.C17F NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 17 Kinesin-motor. 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 AGCTTCTTTGCAAAGCAGAGG 0.333000 10 25 0.000442599 0.000536532 0.006214 1 0 ADCY2 108 broad.mit.edu 37 5 7826866 7826866 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:7826866T>A ENST00000338316.4 + 25 3247 c.3158T>A c.(3157-3159)cTc>cAc p.L1053H ADCY2_ENST00000537121.1_Missense_Mutation_p.L873H NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 1053 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|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 CTGCAGACCCTCGGATACACG 0.498000 6 42 0 0 0.001984 0 0 G2E3 55632 broad.mit.edu 37 14 31071081 31071081 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:31071081G>T ENST00000206595.6 + 9 1012 c.858G>T c.(856-858)agG>agT p.R286S G2E3_ENST00000438909.2_Missense_Mutation_p.R240S|G2E3_ENST00000553504.1_Missense_Mutation_p.R316S|G2E3_ENST00000544007.1_3'UTR NM_017769.3 NP_060239.2 Q7L622 G2E3_HUMAN G2/M-phase specific E3 ubiquitin protein ligase 286 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 TGGAATGTAGGGGTATTATCT 0.343000 9 39 0.000274275 0.000337338 0.004482 1 0 PRR21 643905 broad.mit.edu 37 2 240982120 240982120 + Missense_Mutation SNP G G T rs71420284 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:240982120G>T ENST00000408934.1 - 1 279 c.280C>A c.(280-282)Cca>Aca p.P94T NM_001080835.1 NP_001074304.1 Q8WXC7 PRR21_HUMAN proline rich 21 94 Pro-rich. p.S86fs*291(2) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 29 AAGGGCCGTGGGTGAAGAGGC 0.612000 18 24 3.99206e-14 7.73174e-14 0.007413 1 0 MAP2 4133 broad.mit.edu 37 2 210559692 210559692 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:210559692A>G ENST00000360351.4 + 7 3304 c.2798A>G c.(2797-2799)aAa>aGa p.K933R MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.K929R|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 933 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGTGTTGACAAAGAAGCATCC 0.428000 5 36 0 0 0.001168 0 0 REG1P 5969 broad.mit.edu 37 2 79363172 79363172 + RNA SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:79363172G>A ENST00000444841.1 - 0 1166 TAGGAGACCAGGGACCCACTA 0.522000 5 14 0 0 0.001984 0 0 ZNF324B 388569 broad.mit.edu 37 19 58965140 58965140 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:58965140C>T ENST00000336614.4 + 2 179 c.72C>T c.(70-72)gcC>gcT p.A24A ZNF324B_ENST00000594214.1_Silent_p.A24A|ZNF324B_ENST00000545523.1_Silent_p.A24A|ZNF324B_ENST00000391696.1_5'UTR NM_207395.2 NP_997278.2 Q6AW86 Z324B_HUMAN zinc finger protein 324B 24 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|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;0.0164)|Lung(386;0.179) CGCAGAGGGCCCTGTACCGCC 0.572000 9 55 0 0 0.004482 0 0 HDC 3067 broad.mit.edu 37 15 50534992 50534992 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:50534992G>T ENST00000267845.3 - 12 1856 c.1454C>A c.(1453-1455)cCt>cAt p.P485H HDC_ENST00000543581.1_Missense_Mutation_p.P452H NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 485 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CCCAACCCGAGGGCTGGGTTG 0.562000 6 20 5.9392e-07 8.75935e-07 0.001168 1 0 MRGPRX4 117196 broad.mit.edu 37 11 18195341 18195341 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:18195341C>A ENST00000314254.3 + 1 958 c.538C>A c.(538-540)Cca>Aca p.P180T RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 180 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 AGATTTCATCCCAGTCGCGTG 0.522000 9 114 0.00448238 0.005069 0.004482 1 0 DMXL2 23312 broad.mit.edu 37 15 51834664 51834664 + Missense_Mutation SNP C C A rs149964881 by1000genomes TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:51834664C>A ENST00000251076.5 - 9 1258 c.971G>T c.(970-972)aGg>aTg p.R324M DMXL2_ENST00000449909.3_Missense_Mutation_p.R324M|DMXL2_ENST00000543779.2_Missense_Mutation_p.R324M NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 324 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) AACAGATGACCTCCTCTGTCC 0.388000 6 28 0.00198382 0.00228173 0.001984 1 0 CCP110 9738 broad.mit.edu 37 16 19562548 19562548 + Missense_Mutation SNP G G T rs141344673 by1000genomes TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:19562548G>T ENST00000381396.5 + 15 3264 c.3017G>T c.(3016-3018)cGg>cTg p.R1006L CCP110_ENST00000396208.2_Silent_p.A977A|CCP110_ENST00000396212.2_Silent_p.A977A NM_001199022.1 NP_001185951.1 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 1006 centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 CAAAGAAAGCGGCCAAATGTT 0.333000 22 113 1.9806e-07 3.03392e-07 0.002299 1 0 FN3KRP 79672 broad.mit.edu 37 17 80684833 80684833 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:80684833A>G ENST00000269373.6 + 6 789 c.716A>G c.(715-717)tAc>tGc p.Y239C FN3KRP_ENST00000535965.1_Missense_Mutation_p.Y189C NM_024619.3 NP_078895.2 Q9HA64 KT3K_HUMAN fructosamine 3 kinase related protein 239 kinase activity breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 7 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) GCTTCTTTCTACGGCCACTCG 0.562000 15 52 0 0 0.003163 0 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 5 56 0 0 0.004482 0 0 ZNF585A 199704 broad.mit.edu 37 19 37644496 37644496 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:37644496C>A ENST00000356958.4 - 5 563 c.305G>T c.(304-306)tGg>tTg p.W102L ZNF585A_ENST00000355533.2_Missense_Mutation_p.W47L|ZNF585A_ENST00000392157.2_Missense_Mutation_p.W47L|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.W47L Q6P3V2 Z585A_HUMAN zinc finger protein 585A 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATTATGGTCCCATAATTTCTC 0.313000 12 73 3.07112e-06 4.36695e-06 0.000978 1 0 UMOD 7369 broad.mit.edu 37 16 20352638 20352638 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:20352638C>A ENST00000396134.2 - 8 1574 c.1451G>T c.(1450-1452)gGc>gTc p.G484V UMOD_ENST00000396142.2_Missense_Mutation_p.G451V|UMOD_ENST00000396138.4_Missense_Mutation_p.G500V|UMOD_ENST00000570689.1_Missense_Mutation_p.G451V|UMOD_ENST00000302509.4_Missense_Mutation_p.G451V|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Missense_Mutation_p.G484V NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 451 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 GCCGGTCCCGCCCACTCTGAT 0.577000 5 29 1.23904e-05 1.7078e-05 0.000602 1 0 KRT5 3852 broad.mit.edu 37 12 52913586 52913586 + Missense_Mutation SNP C C A rs61726459 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:52913586C>A ENST00000252242.4 - 1 885 c.495G>T c.(493-495)agG>agT p.R165S NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 165 Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) GCTCCTCGGTCCTCACCCTCT 0.522000 22 71 7.45023e-12 1.36452e-11 0.001523 1 0 SLC32A1 140679 broad.mit.edu 37 20 37357131 37357131 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:37357131T>C ENST00000217420.1 + 2 1690 c.1427T>C c.(1426-1428)tTt>tCt p.F476S NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 476 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CCCAGCCTCTTTCACCTGCGC 0.637000 5 36 0 0 0.000602 0 0 CTNND2 1501 broad.mit.edu 37 5 11082891 11082891 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:11082891C>T ENST00000304623.8 - 16 2894 c.2705G>A c.(2704-2706)cGa>cAa p.R902Q CTNND2_ENST00000511377.1_Missense_Mutation_p.R811Q|CTNND2_ENST00000458100.2_Missense_Mutation_p.R469Q|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.R844Q|CTNND2_ENST00000503622.1_Missense_Mutation_p.R565Q NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 902 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 ATTGTCTATTCGGAGCAGCTC 0.547000 4 58 0 0 0.000248 0 0 NLRP12 91662 broad.mit.edu 37 19 54313203 54313203 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:54313203C>A ENST00000324134.6 - 3 1878 c.1710G>T c.(1708-1710)gaG>gaT p.E570D NLRP12_ENST00000391773.1_Missense_Mutation_p.E570D|NLRP12_ENST00000351894.4_Missense_Mutation_p.E570D|NLRP12_ENST00000354278.3_Missense_Mutation_p.E570D|NLRP12_ENST00000391772.1_Missense_Mutation_p.E570D|NLRP12_ENST00000391775.3_Missense_Mutation_p.E570D|NLRP12_ENST00000345770.5_Missense_Mutation_p.E570D|NLRP12_ENST00000535162.1_Missense_Mutation_p.E570D NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 570 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) GGCTCCTGGTCTCCTCGTTCA 0.572000 14 74 1.52009e-12 2.82243e-12 0.003163 1 0 ZNF716 441234 broad.mit.edu 37 7 57528738 57528738 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:57528738G>T ENST00000420713.1 + 4 683 c.571G>T c.(571-573)Ggc>Tgc p.G191C NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 TAAAAACGATGGCAAATCATT 0.338000 3 14 0.004672 0.00521346 0.004672 1 0 UGT1A5 54579 broad.mit.edu 37 2 234622111 234622111 + Silent SNP G G T rs147117995 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:234622111G>T ENST00000373414.3 + 1 474 c.474G>T c.(472-474)gcG>gcT p.A158A UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron NM_019078.1 NP_061951.1 p.A158A(1) cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) ACCTCTGCGCGGCGGTGCTGG 0.493000 30 89 1.68575e-08 2.7247e-08 0.007291 1 0 POSTN 10631 broad.mit.edu 37 13 38154116 38154116 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:38154116G>C ENST00000379747.4 - 12 1659 c.1542C>G c.(1540-1542)agC>agG p.S514R POSTN_ENST00000541179.1_Missense_Mutation_p.S514R|POSTN_ENST00000379742.4_Missense_Mutation_p.S514R|POSTN_ENST00000379749.4_Missense_Mutation_p.S514R|POSTN_ENST00000541481.1_Missense_Mutation_p.S514R|POSTN_ENST00000379743.4_Missense_Mutation_p.S514R NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 514 FAS1 4. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CTTCAAGTAGGCTGAGGAAGG 0.398000 5 37 0 0 0.000602 0 0 ILDR2 387597 broad.mit.edu 37 1 166904624 166904624 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:166904624C>T ENST00000271417.3 - 6 849 c.794G>A c.(793-795)gGa>gAa p.G265E ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.G265E|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000529071.1_Missense_Mutation_p.G246E|ILDR2_ENST00000526687.1_Intron NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 265 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 GGGGGCTCCTCCCAAAGGGAC 0.597000 9 56 0 0 0.006214 0 0 CLDN16 10686 broad.mit.edu 37 3 190120208 190120208 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:190120208C>T ENST00000264734.2 + 2 655 c.407C>T c.(406-408)tCc>tTc p.S136F CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 136 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) GAGTACGATTCCATACTTGCG 0.483000 8 57 0 0 0.006214 0 0 UGT2A3 79799 broad.mit.edu 37 4 69795685 69795685 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:69795685G>C ENST00000251566.4 - 6 1460 c.1430C>G c.(1429-1431)gCt>gGt p.A477G UGT2A3_ENST00000420231.2_Missense_Mutation_p.A188G NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 477 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GTCATGGGCAGCTGATCGCAG 0.483000 32 72 0 0 0.002445 0 0 OR51S1 119692 broad.mit.edu 37 11 4870337 4870337 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:4870337C>A ENST00000322101.2 - 1 177 c.102G>T c.(100-102)tgG>tgT p.W34C MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GCAATGTCCACCAGGAGGGTG 0.577000 22 54 2.37509e-13 4.52207e-13 0.001523 1 0 RUNX1T1 862 broad.mit.edu 37 8 93026891 93026891 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:93026891C>A ENST00000523629.1 - 4 838 c.384G>T c.(382-384)agG>agT p.R128S RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R91S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R139S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R101S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R91S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R128S|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R91S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R91S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R101S NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 128 TAFH. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TAGTAAGGAACCTTTTCAGCT 0.522000 16 49 3.45872e-05 4.67169e-05 0.004007 1 0 ENDOD1 23052 broad.mit.edu 37 11 94862606 94862606 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:94862606G>C ENST00000278505.4 + 2 1484 c.1366G>C c.(1366-1368)Gca>Cca p.A456P NM_015036.2 NP_055851.1 O94919 ENDD1_HUMAN endonuclease domain containing 1 456 extracellular region endonuclease activity|metal ion binding|nucleic acid binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) CAAGGACATTGCACTGGGCCT 0.522000 10 100 0 0 0.000978 0 0 ACSS3 79611 broad.mit.edu 37 12 81472166 81472166 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:81472166C>T ENST00000548058.1 + 1 1177 c.267C>T c.(265-267)ccC>ccT p.P89P ACSS3_ENST00000261206.3_Silent_p.P89P Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 89 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GGTACAAGCCCTGGACCAAAA 0.602000 6 43 0 0 0.001168 0 0 BAHD1 22893 broad.mit.edu 37 15 40751539 40751539 + Silent SNP C C T rs138741325 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:40751539C>T ENST00000561234.1 + 2 1135 c.876C>T c.(874-876)tcC>tcT p.S292S BAHD1_ENST00000560846.1_Silent_p.S292S|BAHD1_ENST00000416165.1_Silent_p.S292S Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 292 Pro-rich. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 28 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) GTGGGCCATCCGTCCAGCCAT 0.662000 3 34 0 0 0.004672 0 0 GDPD2 54857 broad.mit.edu 37 X 69647065 69647065 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:69647065G>T ENST00000453994.2 + 9 1142 c.781G>T c.(781-783)Gtc>Ttc p.V261F GDPD2_ENST00000374382.3_Missense_Mutation_p.V261F|GDPD2_ENST00000538649.1_Missense_Mutation_p.V182F|GDPD2_ENST00000536730.1_Missense_Mutation_p.V182F|GDPD2_ENST00000472623.1_3'UTR NM_001171192.1 NP_001164663.1 Q9HCC8 GDPD2_HUMAN glycerophosphodiester phosphodiesterase domain containing 2 261 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) TGATGTGATGGTCAGGTGAGG 0.582000 5 29 1.024e-07 1.60506e-07 0.000602 1 0 FAM159A 348378 broad.mit.edu 37 1 53122650 53122650 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:53122650A>T ENST00000517870.1 + 3 661 c.511A>T c.(511-513)Att>Ttt p.I171F FAM159A_ENST00000401050.3_Intron NM_001042693.1 NP_001036158.1 Q6UWV7 F159A_HUMAN family with sequence similarity 159, member A 171 integral to membrane endometrium(3)|lung(6)|upper_aerodigestive_tract(1) 10 CACCAGTGACATTCCAGGCAG 0.542000 4 141 0 0 0.000602 0 0 CDH6 1004 broad.mit.edu 37 5 31302382 31302382 + Nonsense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:31302382G>T ENST00000265071.2 + 6 1241 c.976G>T c.(976-978)Gaa>Taa p.E326* CDH6_ENST00000514738.1_Nonsense_Mutation_p.E271* NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 326 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GGAAACCCAGGAAGGGATTAT 0.453000 5 47 0.000602214 0.000718394 0.000602 1 0 SBF2 81846 broad.mit.edu 37 11 10011043 10011043 + Splice_Site SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:10011043C>A ENST00000256190.8 - 13 1533 c.e13+1 NM_030962.3 NP_112224.1 Q86WG5 MTMRD_HUMAN SET binding factor 2 myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TACTTACTTACATTTTTGAAT 0.333000 14 25 2.32078e-09 3.84326e-09 0.003163 1 0 PTBP2 58155 broad.mit.edu 37 1 97243402 97243402 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:97243402A>T ENST00000236228.6 + 7 690 c.608A>T c.(607-609)aAg>aTg p.K203M PTBP2_ENST00000370198.1_Missense_Mutation_p.K203M|PTBP2_ENST00000541987.1_Missense_Mutation_p.K172M|PTBP2_ENST00000426398.2_Missense_Mutation_p.K203M|PTBP2_ENST00000394184.3_Missense_Mutation_p.K214M|PTBP2_ENST00000370197.1_Missense_Mutation_p.K203M|PTBP2_ENST00000482253.1_3'UTR NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 203 RRM 2. nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) ATATTTTCTAAGTTTGGTGCT 0.269000 5 39 0 0 0.001168 0 0 ACAD11 84129 broad.mit.edu 37 3 132294735 132294735 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:132294735G>T ENST00000264990.6 - 17 2853 c.1882C>A c.(1882-1884)Ctt>Att p.L628I ACAD11_ENST00000545291.1_Missense_Mutation_p.L153I|ACAD11_ENST00000355458.3_Intron NM_032169.4 NP_115545.3 acyl-CoA dehydrogenase family, member 11 breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 36 CCAGGTCCAAGGCGGCCTTGG 0.478000 10 76 1.58986e-06 2.2995e-06 0.008291 1 0 TRPM3 80036 broad.mit.edu 37 9 73225584 73225584 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:73225584G>T ENST00000377110.2 - 18 2815 c.2572C>A c.(2572-2574)Ctc>Atc p.L858I TRPM3_ENST00000360823.2_Missense_Mutation_p.L720I|TRPM3_ENST00000396280.5_Missense_Mutation_p.L707I|TRPM3_ENST00000357533.2_Missense_Mutation_p.L862I|TRPM3_ENST00000377105.1_Missense_Mutation_p.L717I|TRPM3_ENST00000423814.3_Missense_Mutation_p.L885I|TRPM3_ENST00000377106.1_Missense_Mutation_p.L730I|TRPM3_ENST00000408909.2_Missense_Mutation_p.L717I|TRPM3_ENST00000377111.2_Missense_Mutation_p.L858I|TRPM3_ENST00000396285.1_Missense_Mutation_p.L705I|TRPM3_ENST00000396292.4_Missense_Mutation_p.L730I|TRPM3_ENST00000358082.3_Missense_Mutation_p.L720I NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 883 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 TTTCTGCCGAGGGGGATTAAC 0.473000 14 60 1.5842e-08 2.57289e-08 0.001855 1 0 EP400 57634 broad.mit.edu 37 12 132490798 132490798 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:132490798C>T ENST00000333577.4 + 15 3294 c.3185C>T c.(3184-3186)gCg>gTg p.A1062V EP400_ENST00000330386.6_Missense_Mutation_p.A1026V|EP400_ENST00000332482.4_Missense_Mutation_p.A989V|EP400_ENST00000389562.2_Missense_Mutation_p.A1025V|EP400_ENST00000389561.2_Missense_Mutation_p.A1026V Q96L91 EP400_HUMAN E1A binding protein p400 1062 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.A1025V(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GACGTCACTGCGGTGGCTGAA 0.552000 14 45 0 0 0.001855 0 0 MYO1C 4641 broad.mit.edu 37 17 1384169 1384169 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:1384169A>G ENST00000359786.5 - 6 962 c.638T>C c.(637-639)gTg>gCg p.V213A MYO1C_ENST00000545534.2_Missense_Mutation_p.V189A|MYO1C_ENST00000438665.2_Missense_Mutation_p.V194A|MYO1C_ENST00000573198.1_5'UTR|MYO1C_ENST00000575158.1_Missense_Mutation_p.V178A|MYO1C_ENST00000361007.2_Missense_Mutation_p.V178A NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 213 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GTGGCCACCCACGGGGGCACC 0.632000 5 62 0 0 0.004482 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70712911 70712911 + RNA SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:70712911A>T ENST00000530196.1 - 0 1607 NR_003951.1 CGTCCTGCACATATCTATCTT 0.448000 5 37 0 0 0.000602 0 0 ANKEF1 63926 broad.mit.edu 37 20 10036234 10036234 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:10036234G>A ENST00000378380.3 + 10 2586 c.2257G>A c.(2257-2259)Gac>Aac p.D753N SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.D753N|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 GGTGGACTTCGACGATTTTAT 0.438000 14 38 0 0 0.001855 0 0 FAT2 2196 broad.mit.edu 37 5 150901610 150901610 + Missense_Mutation SNP G G T rs142141788 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:150901610G>T ENST00000261800.5 - 18 10556 c.10544C>A c.(10543-10545)aCg>aAg p.T3515K NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3515 Cadherin 31. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACGGACAGACGTCAAAGACGA 0.562000 5 9 3.59834e-05 4.79304e-05 0.001168 1 0 RBBP7 5931 broad.mit.edu 37 X 16870189 16870189 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:16870189G>T ENST00000380087.2 - 9 1380 c.1020C>A c.(1018-1020)cgC>cgA p.R340R RBBP7_ENST00000404022.1_Silent_p.R331R|RBBP7_ENST00000380084.4_Silent_p.R384R Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 340 cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 25 Hepatocellular(33;0.0997) ACACATTCAGGCGGCGGTCAG 0.383000 46 120 1.46357e-32 3.04459e-32 0.003610 1 0 DUSP8 1850 broad.mit.edu 37 11 1580211 1580211 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:1580211G>A ENST00000397374.3 - 4 572 c.445C>T c.(445-447)Ctc>Ttc p.L149F DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Missense_Mutation_p.L149F NM_004420.2 NP_004411.2 Q13202 DUS8_HUMAN dual specificity phosphatase 8 149 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) GGCTGGGAGAGGCTCATGGGT 0.662000 4 24 0 0 0.000248 0 0 KLKB1 3818 broad.mit.edu 37 4 187179309 187179309 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:187179309G>T ENST00000264690.6 + 15 2047 c.1860G>T c.(1858-1860)tgG>tgT p.W620C KLKB1_ENST00000513864.1_3'UTR NM_000892.3 NP_000883.2 P03952 KLKB1_HUMAN kallikrein B, plasma (Fletcher factor) 1 620 Peptidase S1. 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) ACATGGACTGGATTTTAGAGA 0.502000 12 38 7.03913e-09 1.14876e-08 0.001368 1 0 KCNN2 3781 broad.mit.edu 37 5 113698508 113698508 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:113698508G>A ENST00000512097.3 + 2 1054 c.36G>A c.(34-36)cgG>cgA p.R12R KCNN2_ENST00000264773.3_Silent_p.R12R Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 12 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) GCGTCATGCGGCCGCTCAGCA 0.701000 4 18 0 0 0.000248 0 0 KRT34 3885 broad.mit.edu 37 17 39537424 39537424 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:39537424C>A ENST00000394001.1 - 3 628 c.598G>T c.(598-600)Gac>Tac p.D200Y NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 200 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) CTGTTGATGTCCGACTCCACC 0.567000 12 53 0.000978159 0.00115057 0.000978 1 0 KCNK10 54207 broad.mit.edu 37 14 88651918 88651918 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:88651918C>A ENST00000340700.5 - 7 2029 c.1578G>T c.(1576-1578)cgG>cgT p.R526R KCNK10_ENST00000319231.5_Silent_p.R531R|KCNK10_ENST00000312350.5_Silent_p.R531R NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 526 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 TCTCCGGCTCCCGGTCTTTGG 0.478000 12 62 1.08611e-07 1.69062e-07 0.000978 1 0 USH2A 7399 broad.mit.edu 37 1 216420207 216420207 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:216420207G>T ENST00000366943.2 - 13 2915 c.2529C>A c.(2527-2529)ctC>ctA p.L843L USH2A_ENST00000366942.3_Silent_p.L843L|USH2A_ENST00000307340.3_Silent_p.L843L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 843 Laminin EGF-like 6. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.L843L(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AAGGCAGACAGAGGAAAGAAT 0.443000 HNSCC(13;0.011) 25 96 6.32553e-13 1.1909e-12 0.004656 1 0 OTOP1 133060 broad.mit.edu 37 4 4199745 4199745 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:4199745G>T ENST00000296358.4 - 5 840 c.816C>A c.(814-816)ccC>ccA p.P272P NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 272 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTATGTTGAAGGGGTAGAGGT 0.532000 9 36 1.76689e-08 2.83544e-08 0.006214 1 0 BPNT1 10380 broad.mit.edu 37 1 220232314 220232314 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:220232314C>A ENST00000469520.2 - 10 1248 c.799G>T c.(799-801)Ggg>Tgg p.G267W BPNT1_ENST00000354807.3_Missense_Mutation_p.G282W|BPNT1_ENST00000544404.1_Missense_Mutation_p.G212W|BPNT1_ENST00000322067.7_Missense_Mutation_p.G267W|BPNT1_ENST00000414869.2_Missense_Mutation_p.G231W O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 267 3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process cytosol 3'(2'),5'-bisphosphate nucleotidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1) 14 GBM - Glioblastoma multiforme(131;0.0558) AGAACATTCCCATGGATATCG 0.393000 6 73 3.59834e-05 4.79304e-05 0.001168 1 0 EVI2B 2124 broad.mit.edu 37 17 29632168 29632168 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:29632168G>T ENST00000330927.4 - 2 614 c.460C>A c.(460-462)Cag>Aag p.Q154K NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.Q154K|EVI2B_ENST00000544462.1_Missense_Mutation_p.Q169K NM_006495.3 NP_006486.3 P34910 EVI2B_HUMAN ecotropic viral integration site 2B 154 cytoplasm|integral to plasma membrane p.0?(8)|p.?(3) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) GAAGGGATCTGGACAGATGAT 0.403000 22 122 1.9806e-07 3.03392e-07 0.002299 1 0 ZNF260 339324 broad.mit.edu 37 19 37005059 37005059 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:37005059C>A ENST00000523638.1 - 3 2203 c.1082G>T c.(1081-1083)gGt>gTt p.G361V ZNF260_ENST00000593142.1_Missense_Mutation_p.G361V|ZNF260_ENST00000592282.1_Missense_Mutation_p.G361V|ZNF260_ENST00000588993.1_Missense_Mutation_p.G361V NM_001166036.1|NM_001166037.1|NM_001166038.1 NP_001159508.1|NP_001159509.1|NP_001159510.1 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 361 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8) 15 Esophageal squamous(110;0.162) TTCATTACAACCATAGGGTTT 0.438000 13 53 0.000219431 0.000274391 0.002450 1 0 COL25A1 84570 broad.mit.edu 37 4 109769934 109769934 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:109769934G>T ENST00000399132.1 - 27 1945 c.1415C>A c.(1414-1416)cCa>cAa p.P472Q COL25A1_ENST00000399126.1_Missense_Mutation_p.P472Q|COL25A1_ENST00000399127.1_Missense_Mutation_p.P445Q NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 472 Collagen-like 6. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) ATCCATTCCTGGGATTCCTGG 0.353000 7 29 2.74318e-10 4.75296e-10 0.006214 1 0 TRBV2 28620 broad.mit.edu 37 7 142000796 142000796 + RNA SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:142000796G>T ENST00000455382.2 + 0 50 GCTAGGAAAGGCCTCATTCCT 0.517000 5 30 0.000602214 0.000718394 0.000602 1 0 PRDM9 56979 broad.mit.edu 37 5 23527018 23527018 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:23527018C>T ENST00000296682.3 + 11 2003 c.1821C>T c.(1819-1821)ccC>ccT p.P607P NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 607 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGGAGAAGCCCTATGTCTGCA 0.607000 HNSCC(3;0.000094) 7 88 0 0 0.004482 0 0 SYNE3 161176 broad.mit.edu 37 14 95884365 95884365 + Splice_Site SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:95884365T>C ENST00000334258.5 - 17 2742 c.e17-2 SYNE3_ENST00000557275.1_Splice_Site|SYNE3_ENST00000554873.1_Splice_Site NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CCGCCGAGTCTGCGGAACCAA 0.667000 10 35 0 0 0.006214 0 0 KTN1 3895 broad.mit.edu 37 14 56104545 56104545 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:56104545C>T ENST00000416613.1 + 11 1837 c.1765C>T c.(1765-1767)Cat>Tat p.H589Y KTN1_ENST00000395314.3_Missense_Mutation_p.H589Y|KTN1_ENST00000395311.1_Missense_Mutation_p.H589Y|KTN1_ENST00000413890.2_Missense_Mutation_p.H589Y|KTN1_ENST00000395309.3_Missense_Mutation_p.H589Y|KTN1_ENST00000438792.2_Missense_Mutation_p.H589Y|KTN1_ENST00000395308.1_Missense_Mutation_p.H589Y Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) 589 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 TCAGCAGTTCCATTCCCAGAT 0.373000 T RET papillary thryoid 15 50 0 0 0.004990 0 0 XKR6 286046 broad.mit.edu 37 8 10756321 10756321 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:10756321C>A ENST00000416569.2 - 3 1093 c.1067G>T c.(1066-1068)gGg>gTg p.G356V XKR6_ENST00000304437.2_Missense_Mutation_p.G77V NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 356 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) GATGATGGCCCCTCTGTAGCT 0.542000 11 76 5.16669e-11 9.21256e-11 0.000978 1 0 FANCM 57697 broad.mit.edu 37 14 45642334 45642334 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:45642334C>T ENST00000267430.5 + 13 2322 c.2237C>T c.(2236-2238)aCa>aTa p.T746I FANCM_ENST00000542564.2_Missense_Mutation_p.T720I NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 746 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 CCTTTGCCTACACATCAAGTT 0.388000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 12 42 0 0 0.000978 0 0 ALS2CR11 151254 broad.mit.edu 37 2 202446879 202446879 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:202446879T>C ENST00000439140.1 - 5 622 c.578A>G c.(577-579)aAt>aGt p.N193S ALS2CR11_ENST00000439802.1_Missense_Mutation_p.N193S|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.N193S|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.N193S NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 193 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 TTTTTCTCTATTGTCATATTG 0.299000 7 65 0 0 0.003080 0 0 FIP1L1 81608 broad.mit.edu 37 4 54319267 54319267 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:54319267G>T ENST00000337488.6 + 16 1660 c.1466G>T c.(1465-1467)cGt>cTt p.R489L FIP1L1_ENST00000358575.5_Missense_Mutation_p.R483L|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Missense_Mutation_p.R415L NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 489 Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) GAGAGGGAGCGTGATCACAGT 0.438000 T PDGFRA idiopathic hypereosinophilic syndrome 8 21 0.00621372 0.00688823 0.006214 1 0 WBSCR17 64409 broad.mit.edu 37 7 70885970 70885970 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:70885970G>T ENST00000333538.5 + 5 1475 c.841G>T c.(841-843)Gac>Tac p.D281Y WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 281 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CATCAAACAGGACAACTTTGA 0.557000 43 97 3.83281e-39 8.02271e-39 0.002522 1 0 COL3A1 1281 broad.mit.edu 37 2 189859478 189859478 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:189859478G>T ENST00000304636.3 + 20 1546 c.1376G>T c.(1375-1377)gGa>gTa p.G459V COL3A1_ENST00000317840.5_Missense_Mutation_p.G459V NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 459 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GGTGTTCCAGGAGCTAAAGGC 0.433000 5 33 0.00116845 0.00136487 0.001168 1 0 PCLO 27445 broad.mit.edu 37 7 82581839 82581839 + Silent SNP T T G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:82581839T>G ENST00000423517.2 - 5 8767 c.8430A>C c.(8428-8430)acA>acC p.T2810T PCLO_ENST00000333891.8_Silent_p.T2810T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2741 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTAGGCTTTCTGTGCCTGTAG 0.473000 6 45 0 0 0.001168 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215674 20215674 + Missense_Mutation SNP C C A rs4494468 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:20215674C>A ENST00000331723.1 + 1 88 c.88C>A c.(88-90)Cta>Ata p.L30I NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTCTTCTTACTATTTTTGTT 0.378000 23 80 3.5997e-14 7.01213e-14 0.002299 1 0 SCN4A 6329 broad.mit.edu 37 17 62018249 62018249 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:62018249G>T ENST00000578147.1 - 24 5469 c.5393C>A c.(5392-5394)gCa>gAa p.A1798E SCN4A_ENST00000435607.1_Missense_Mutation_p.A1798E P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1798 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GGCGTCCCCTGCCTCGCCCTT 0.667000 13 20 9.05144e-12 1.6533e-11 0.001855 1 0 ACTN2 88 broad.mit.edu 37 1 236924451 236924451 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:236924451T>C ENST00000366578.4 + 20 2670 c.2504T>C c.(2503-2505)tTc>tCc p.F835S ACTN2_ENST00000542672.1_Missense_Mutation_p.F835S|ACTN2_ENST00000546208.1_Missense_Mutation_p.F329S NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 835 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) ATCGCCTCCTTCCGGATCCTG 0.507000 9 47 0 0 0.008291 0 0 KDR 3791 broad.mit.edu 37 4 55979605 55979605 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:55979605G>T ENST00000263923.4 - 7 1137 c.842C>A c.(841-843)tCt>tAt p.S281Y NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 281 Ig-like C2-type 3. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CTCACTCCCAGACTGGGTTTT 0.423000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 7 35 8.12818e-05 0.000103758 0.001984 1 0 SEC31B 25956 broad.mit.edu 37 10 102256062 102256062 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:102256062C>A ENST00000370345.3 - 18 2360 c.2263G>T c.(2263-2265)Ggc>Tgc p.G755C NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 755 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GCCAGGCTGCCCTGGGCTGCC 0.572000 5 45 1.23904e-05 1.7078e-05 0.000602 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110447520 110447520 + Nonsense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:110447520G>T ENST00000378402.5 + 29 3546 c.3442G>T c.(3442-3444)Gag>Tag p.E1148* NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1148 IPT/TIG 4. immune response cytosol|extracellular space|integral to membrane receptor activity 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) AGGGGGTGAAGAGTTCTACTT 0.438000 HNSCC(38;0.096) 44 102 1.06522e-23 2.1889e-23 0.003214 1 0 OR2H1 26716 broad.mit.edu 37 6 29429607 29429607 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:29429607C>A ENST00000377136.1 + 4 526 c.61C>A c.(61-63)Ctg>Atg p.L21M OR2H1_ENST00000396792.2_Missense_Mutation_p.L21M|OR2H1_ENST00000442615.1_Missense_Mutation_p.L21M|OR2H1_ENST00000377132.1_Missense_Mutation_p.L21M|OR2H1_ENST00000473369.1_Intron|OR2H1_ENST00000377133.1_Missense_Mutation_p.L21M Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 ACACCCAGCACTGGAAAGGAC 0.537000 16 155 1.45105e-14 2.83481e-14 0.006122 1 0 ZCCHC14 23174 broad.mit.edu 37 16 87445200 87445200 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:87445200G>C ENST00000268616.4 - 12 2933 c.2716C>G c.(2716-2718)Cta>Gta p.L906V NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 906 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) TAACAAGATAGGTTCCCGCTC 0.607000 14 77 0 0 0.001855 0 0 ZNF733P 643955 broad.mit.edu 37 7 62758685 62758685 + RNA SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:62758685C>A ENST00000331425.6 - 0 192 NR_003952.1 CATCACATGTCTATATAAATT 0.378000 31 69 9.65021e-13 1.80173e-12 0.002096 1 0 ITGAX 3687 broad.mit.edu 37 16 31382660 31382660 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:31382660G>T ENST00000268296.4 + 16 1968 c.1847G>T c.(1846-1848)aGa>aTa p.R616I ITGAX_ENST00000562522.1_Missense_Mutation_p.R616I NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 616 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 CGCAGGACCAGACCTGTGCTC 0.652000 5 16 3.59834e-05 4.79304e-05 0.001168 1 0 ADCY1 107 broad.mit.edu 37 7 45719354 45719354 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:45719354G>T ENST00000297323.7 + 11 1967 c.1945G>T c.(1945-1947)Gtg>Ttg p.V649L NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 649 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 membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CTGCTTCCTGGTGGCCTGTGT 0.557000 20 36 7.87624e-14 1.52109e-13 0.002780 1 0 FRAS1 80144 broad.mit.edu 37 4 79396752 79396752 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:79396752G>T ENST00000264895.6 + 54 8283 c.7843G>T c.(7843-7845)Gct>Tct p.A2615S NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2610 Calx-beta 1. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGTAGAGTATGCTGGCCAGGT 0.577000 24 46 3.96558e-24 8.17371e-24 0.004656 1 0 PCDHA3 56145 broad.mit.edu 37 5 140182910 140182910 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:140182910C>A ENST00000522353.2 + 1 2128 c.2128C>A c.(2128-2130)Ctg>Atg p.L710M PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.L710M|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGTCCAGTCTGTTGGTGCT 0.657000 9 99 0.000442599 0.000536532 0.006214 1 0 SYCE1 93426 broad.mit.edu 37 10 135368920 135368920 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:135368920G>T ENST00000368517.3 - 12 883 c.745C>A c.(745-747)Cat>Aat p.H249N SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Missense_Mutation_p.H249N|SYCE1_ENST00000343131.5_Missense_Mutation_p.H285N NM_130784.2 NP_570140.1 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 285 cell division central element breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TGCATTCCATGCTTTTCCAGC 0.557000 15 48 1.5739e-10 2.76973e-10 0.004007 1 0 OR8H3 390152 broad.mit.edu 37 11 55890132 55890132 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:55890132C>A ENST00000313472.3 + 1 284 c.284C>A c.(283-285)aCg>aAg p.T95K NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) ATTTCCTTCACGGGCTGCTTT 0.433000 20 291 1.01871e-10 1.80213e-10 0.008871 1 0 CYP11B2 1585 broad.mit.edu 37 8 143993975 143993975 + Nonsense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:143993975C>A ENST00000323110.2 - 8 1371 c.1369G>T c.(1369-1371)Gag>Tag p.E457* NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 457 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) ATCTCTGCCTCTGCCAGGCGC 0.692000 Familial Hyperaldosteronism type I 6 38 0.000442599 0.000536532 0.006214 1 0 GLRA2 2742 broad.mit.edu 37 X 14548215 14548215 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:14548215G>T ENST00000218075.4 + 1 566 c.36G>T c.(34-36)ttG>ttT p.L12F GLRA2_ENST00000443437.2_5'UTR|GLRA2_ENST00000355020.4_Missense_Mutation_p.L12F NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 12 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TGACAGCCTTGTTTGCATTTT 0.368000 11 51 4.36969e-10 7.49407e-10 0.001855 1 0 OBSCN 84033 broad.mit.edu 37 1 228431091 228431091 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:228431091A>G ENST00000570156.2 + 11 3487 c.3413A>G c.(3412-3414)aAg>aGg p.K1138R OBSCN_ENST00000422127.1_Missense_Mutation_p.K1046R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.K1046R|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 74 Ig-like 11. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAGGCAGGCAAGACAGATGCC 0.567000 6 30 0 0 0.001168 0 0 CAPS 828 broad.mit.edu 37 19 5915067 5915067 + Silent SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:5915067C>G ENST00000588776.1 + 4 3003 c.636C>G c.(634-636)gcC>gcG p.A212A CAPS_ENST00000222125.5_Silent_p.A126A|CAPS_ENST00000452990.2_Silent_p.A126A Q13938 CAYP1_HUMAN calcyphosine 126 intracellular signal transduction cytoplasm calcium ion binding cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 4 GTGGCCGTGCCCACCCCAAGG 0.677000 10 73 0 0 0.000978 0 0 PCDHGA7 56108 broad.mit.edu 37 5 140763824 140763824 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:140763824C>T ENST00000518325.1 + 1 1358 c.1358C>T c.(1357-1359)cCc>cTc p.P453L PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCACCTTCCCCCACTCATCC 0.527000 6 38 0 0 0.001168 0 0 FUT3 2525 broad.mit.edu 37 19 5844780 5844780 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:5844780A>G ENST00000303225.6 - 3 705 c.71T>C c.(70-72)cTg>cCg p.L24P FUT3_ENST00000458379.2_Missense_Mutation_p.L24P|FUT3_ENST00000589620.1_Missense_Mutation_p.L24P|FUT3_ENST00000589918.1_Missense_Mutation_p.L24P NM_000149.3 NP_000140.1 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 24 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 AGCCACCAGCAGCTGAAATAG 0.607000 4 17 0 0 0.000248 0 0 PDE4C 5143 broad.mit.edu 37 19 18332994 18332994 + Missense_Mutation SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:18332994A>G ENST00000355502.3 - 6 1253 c.382T>C c.(382-384)Tat>Cat p.Y128H PDE4C_ENST00000594465.2_Missense_Mutation_p.Y128H|PDE4C_ENST00000262805.11_Missense_Mutation_p.Y96H|PDE4C_ENST00000447275.2_Missense_Mutation_p.Y22H|PDE4C_ENST00000594617.2_Missense_Mutation_p.Y128H Q08493 PDE4C_HUMAN phosphodiesterase 4C, cAMP-specific 128 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) GAGAGTTCATAGTCGCTATCT 0.642000 4 23 0 0 0.000248 0 0 DST 667 broad.mit.edu 37 6 56481397 56481397 + Missense_Mutation SNP T T C rs112473525 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:56481397T>C ENST00000370765.6 - 24 6975 c.6868A>G c.(6868-6870)Aga>Gga p.R2290G DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1630 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GGGAAAACTCTTGTGTTGCTG 0.423000 23 52 0 0 0.002299 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200818117 200818117 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:200818117G>T ENST00000358823.2 + 11 2490 c.2220G>T c.(2218-2220)cgG>cgT p.R740R CAMSAP2_ENST00000413307.2_Silent_p.R724R|CAMSAP2_ENST00000236925.4_Silent_p.R751R NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 751 cytoplasm|microtubule protein binding CACAGGGACGGGACACTACCC 0.458000 7 40 0.000673444 0.000800531 0.008291 1 0 AGTPBP1 23287 broad.mit.edu 37 9 88236124 88236124 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:88236124T>C ENST00000357081.3 - 15 2236 c.2092A>G c.(2092-2094)Aac>Gac p.N698D AGTPBP1_ENST00000432218.1_Missense_Mutation_p.N536D|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.N658D|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.N710D Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 698 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 TACTTTGGGTTATCCAAGTCA 0.259000 14 26 0 0 0.002450 0 0 SUSD5 26032 broad.mit.edu 37 3 33249344 33249344 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:33249344G>T ENST00000309558.3 - 3 782 c.365C>A c.(364-366)cCa>cAa p.P122Q NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 122 Link. cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 ACCAGGAACTGGGTTGCTCTC 0.458000 12 52 1.49906e-05 2.06197e-05 0.002450 1 0 AVPR1A 552 broad.mit.edu 37 12 63541318 63541318 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:63541318C>A ENST00000299178.2 - 2 1183 c.1078G>T c.(1078-1080)Gtt>Ttt p.V360F NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 360 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) AAGCTTTGAACACAGTCTTGA 0.398000 10 55 0.000442599 0.000536532 0.006214 1 0 CSMD1 64478 broad.mit.edu 37 8 2807764 2807764 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:2807764G>T ENST00000520002.1 - 68 10861 c.10306C>A c.(10306-10308)Cta>Ata p.L3436I CSMD1_ENST00000602557.1_Missense_Mutation_p.L3436I|CSMD1_ENST00000542608.1_Missense_Mutation_p.L3258I|CSMD1_ENST00000400186.3_Missense_Mutation_p.L3259I|CSMD1_ENST00000537824.1_Missense_Mutation_p.L3435I|CSMD1_ENST00000602723.1_Missense_Mutation_p.L3259I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3436 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TAACCATCTAGTCCCCAGTTG 0.433000 10 78 0.000978159 0.00115057 0.000978 1 0 PROKR1 10887 broad.mit.edu 37 2 68882079 68882079 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:68882079T>A ENST00000303786.3 + 3 973 c.553T>A c.(553-555)Ttg>Atg p.L185M PROKR1_ENST00000394342.2_Missense_Mutation_p.L185M Q8TCW9 PKR1_HUMAN prokineticin receptor 1 185 integral to membrane|plasma membrane neuropeptide Y receptor activity endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CCTGATTGCCTTGGTGTGGAC 0.562000 11 53 0 0 0.001368 0 0 DYSF 8291 broad.mit.edu 37 2 71780291 71780291 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:71780291A>T ENST00000258104.3 + 20 2180 c.1903A>T c.(1903-1905)Act>Tct p.T635S DYSF_ENST00000413539.2_Missense_Mutation_p.T666S|DYSF_ENST00000409651.1_Missense_Mutation_p.T667S|DYSF_ENST00000410020.3_Missense_Mutation_p.T653S|DYSF_ENST00000409582.3_Missense_Mutation_p.T652S|DYSF_ENST00000409366.1_Missense_Mutation_p.T636S|DYSF_ENST00000409762.1_Missense_Mutation_p.T652S|DYSF_ENST00000409744.1_Missense_Mutation_p.T622S|DYSF_ENST00000410041.1_Missense_Mutation_p.T653S|DYSF_ENST00000429174.2_Missense_Mutation_p.T635S|DYSF_ENST00000394120.2_Missense_Mutation_p.T636S NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 635 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GGCCTCCACCACTCAGTACAG 0.587000 9 45 0 0 0.000978 0 0 SORL1 6653 broad.mit.edu 37 11 121385030 121385030 + Splice_Site SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:121385030G>A ENST00000260197.7 + 8 1340 c.1211_splice c.e8+1 p.R404_splice SORL1_ENST00000532451.1_3'UTR NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 404 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ACCTTGGTGAGGTAAGGAGAC 0.507000 3 7 0 0 0.000248 0 0 EEPD1 80820 broad.mit.edu 37 7 36336765 36336765 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:36336765G>T ENST00000242108.4 + 7 2197 c.1479G>T c.(1477-1479)tgG>tgT p.W493C EEPD1_ENST00000534978.1_Missense_Mutation_p.W493C NM_030636.2 NP_085139.2 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family domain containing 1 493 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 ACAACATCTGGATCAGTAAAA 0.478000 7 28 5.18039e-06 7.31988e-06 0.003080 1 0 ATP8A2 51761 broad.mit.edu 37 13 26273477 26273477 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:26273477G>T ENST00000381655.2 + 25 2520 c.2378G>T c.(2377-2379)tGc>tTc p.C793F ATP8A2_ENST00000255283.8_Missense_Mutation_p.C753F|ATP8A2_ENST00000491840.1_3'UTR NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 753 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) GCGGTCATATGCTGCAGGTAG 0.522000 7 14 0.00198382 0.00228173 0.001984 1 0 CPXM2 119587 broad.mit.edu 37 10 125639736 125639736 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:125639736C>G ENST00000241305.3 - 2 548 c.394G>C c.(394-396)Gtc>Ctc p.V132L CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 132 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CTCTCTCTGACATCTTCACGG 0.557000 18 72 0 0 0.007413 0 0 PCK1 5105 broad.mit.edu 37 20 56140750 56140750 + Nonsense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:56140750A>T ENST00000319441.4 + 10 1923 c.1759A>T c.(1759-1761)Aag>Tag p.K587* PCK1_ENST00000543666.1_Nonsense_Mutation_p.K270* NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 587 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) ATTCTGGGAGAAGGAGGTGGA 0.507000 7 20 0 0 0.003080 0 0 GRIN3A 116443 broad.mit.edu 37 9 104433161 104433161 + Silent SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:104433161A>G ENST00000361820.3 - 3 2133 c.1533T>C c.(1531-1533)agT>agC p.S511S NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 511 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AGTGTAGCTTACTTGGATGTT 0.522000 25 50 0 0 0.003954 0 0 TDG 6996 broad.mit.edu 37 12 104379432 104379432 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:104379432A>T ENST00000392872.3 + 9 1250 c.1016A>T c.(1015-1017)gAg>gTg p.E339V TDG_ENST00000266775.9_Missense_Mutation_p.E335V|TDG_ENST00000542036.1_Missense_Mutation_p.E135V|TDG_ENST00000544861.1_Missense_Mutation_p.E196V NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase 339 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity p.E339G(1) large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) CCAGGTTATGAGGCAGCATAT 0.403000 Base excision repair (BER), DNA glycosylases 4 64 0 0 0.000248 0 0 MARC1 64757 broad.mit.edu 37 1 220986690 220986690 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:220986690G>T ENST00000366910.5 + 7 1130 c.944G>T c.(943-945)gGg>gTg p.G315V MARC1_ENST00000496110.1_3'UTR NM_022746.3 NP_073583.3 Q5VT66 MOSC1_HUMAN mitochondrial amidoxime reducing component 1 315 MOSC. molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding CCACTCTTTGGGCAGTATTTT 0.473000 37 88 1.60099e-16 3.20197e-16 0.004878 1 0 AOC1 26 broad.mit.edu 37 7 150553579 150553579 + Silent SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:150553579C>G ENST00000493429.1 + 4 605 c.21C>G c.(19-21)gcC>gcG p.A7A AOC1_ENST00000467291.1_Silent_p.A7A|AOC1_ENST00000416793.2_Silent_p.A7A|AOC1_ENST00000360937.4_Silent_p.A7A amine oxidase, copper containing 1 TGGGCTGGGCCGTGGCTGCCA 0.607000 4 28 0 0 0.000248 0 0 MYOM2 9172 broad.mit.edu 37 8 2056576 2056576 + Splice_Site SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:2056576G>T ENST00000262113.4 + 24 3139 c.e24-1 MYOM2_ENST00000523438.1_Splice_Site NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CTTCGTTTTAGAGCTCGAGCG 0.498000 7 58 0.00198382 0.00228173 0.001984 1 0 DBH 1621 broad.mit.edu 37 9 136501746 136501746 + Missense_Mutation SNP G G T rs78445536 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:136501746G>T ENST00000393056.2 + 1 265 c.253G>T c.(253-255)Gtc>Ttc p.V85F NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 85 DOMON. hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CAAGGCTGGCGTCCTGTTTGG 0.617000 3 10 0.004672 0.00521346 0.004672 1 0 PPP2R3B 28227 broad.mit.edu 37 X 299548 299548 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:299548C>A ENST00000390665.3 - 11 1453 c.1435G>T c.(1435-1437)Gac>Tac p.D479Y NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 479 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TGCTCGTGGTCGAGGTACTTC 0.632000 16 42 2.32078e-09 3.84326e-09 0.003163 1 0 KIRREL2 84063 broad.mit.edu 37 19 36350480 36350480 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:36350480G>T ENST00000360202.5 + 5 818 c.620G>T c.(619-621)cGg>cTg p.R207L KIRREL2_ENST00000262625.7_Missense_Mutation_p.R207L|KIRREL2_ENST00000586102.2_Intron|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R157L|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R207L NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 207 Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGCCGGGCCCGGAGCCAGGCC 0.627000 11 60 1.08611e-07 1.69062e-07 0.000978 1 0 CDH10 1008 broad.mit.edu 37 5 24509888 24509888 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:24509888A>T ENST00000264463.4 - 7 1550 c.1043T>A c.(1042-1044)gTc>gAc p.V348D NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 348 Cadherin 3. 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) TTCTGCTTCGACTTTCAGAGT 0.378000 HNSCC(23;0.051) 4 36 0 0 0.000602 0 0 RNF157 114804 broad.mit.edu 37 17 74158669 74158669 + Silent SNP A A G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:74158669A>G ENST00000269391.6 - 9 888 c.756T>C c.(754-756)taT>taC p.Y252Y RNF157_ENST00000319945.6_Silent_p.Y252Y NM_052916.2 NP_443148.1 Q96PX1 RN157_HUMAN ring finger protein 157 252 zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 25 LUSC - Lung squamous cell carcinoma(166;0.187) TTTCAATTCCATAGATCTCCT 0.443000 10 21 0 0 0.008291 0 0 ANKRD30BL 554226 broad.mit.edu 37 2 132905741 132905741 + Missense_Mutation SNP G G A rs111770980 by1000genomes TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:132905741G>A ENST00000409867.1 - 6 989 c.740C>T c.(739-741)aCg>aTg p.T247M ANKRD30BL_ENST00000470729.1_5'UTR ankyrin repeat domain 30B-like endometrium(1)|kidney(3) 4 GCTTTCAGCCGTGTCAGGTGT 0.438000 3 19 0 0 0.000248 0 0 NLRP7 199713 broad.mit.edu 37 19 55450426 55450426 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:55450426C>A ENST00000446217.1 - 6 2247 c.1845G>T c.(1843-1845)gtG>gtT p.V615V NLRP7_ENST00000328092.5_Silent_p.V587V|NLRP7_ENST00000340844.2_Silent_p.V587V|NLRP7_ENST00000448121.2_Silent_p.V587V|NLRP7_ENST00000590030.1_Silent_p.V587V|NLRP7_ENST00000592784.1_Silent_p.V587V|NLRP7_ENST00000588756.1_Silent_p.V587V Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 587 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) ACGGGGCCACCACCACCTTCG 0.488000 9 40 0.000274275 0.000337338 0.004482 1 0 PXDNL 137902 broad.mit.edu 37 8 52370149 52370149 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:52370149C>A ENST00000356297.4 - 9 991 c.891G>T c.(889-891)gaG>gaT p.E297D PXDNL_ENST00000543296.1_Missense_Mutation_p.E297D NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 297 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CTTGGTCTGACTCTCTGGTGT 0.453000 6 80 8.12818e-05 0.000103758 0.001984 1 0 KCNA5 3741 broad.mit.edu 37 12 5154245 5154245 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:5154245C>A ENST00000252321.3 + 1 1161 c.932C>A c.(931-933)aCg>aAg p.T311K NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 311 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 TCTGGCCCTACGGTGGCACCG 0.711000 14 49 7.93312e-07 1.15985e-06 0.002450 1 0 FAT3 120114 broad.mit.edu 37 11 92498234 92498234 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:92498234C>A ENST00000298047.6 + 5 4191 c.4174C>A c.(4174-4176)Cct>Act p.P1392T RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Missense_Mutation_p.P1392T|FAT3_ENST00000525166.1_Missense_Mutation_p.P1242T Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1392 Cadherin 13. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGCTAACACCCCTCTGTGGTT 0.403000 TCGA Ovarian(4;0.039) 7 16 0.00307968 0.00351219 0.003080 1 0 ZEB2 9839 broad.mit.edu 37 2 145158817 145158817 + Nonsense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:145158817T>A ENST00000558170.2 - 7 2049 c.865A>T c.(865-867)Aag>Tag p.K289* ZEB2_ENST00000303660.4_Nonsense_Mutation_p.K289*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.K289*|ZEB2_ENST00000539609.3_Nonsense_Mutation_p.K265* NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 289 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding 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) TTGAAGGCCTTGCCACACTCT 0.438000 16 71 0 0 0.007413 0 0 PRR11 55771 broad.mit.edu 37 17 57275120 57275120 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:57275120G>A ENST00000262293.4 + 9 1296 c.984G>A c.(982-984)gtG>gtA p.V328V CTD-2510F5.6_ENST00000577660.1_Silent_p.V35V NM_018304.3 NP_060774.2 Q96HE9 PRR11_HUMAN proline rich 11 328 breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1) 16 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TGACTCCAGTGATGACGCAGG 0.428000 6 63 0 0 0.003080 0 0 CDHR2 54825 broad.mit.edu 37 5 176017662 176017662 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:176017662C>A ENST00000510636.1 + 28 3787 c.3513C>A c.(3511-3513)acC>acA p.T1171T CDHR2_ENST00000261944.5_Silent_p.T1171T|CDHR2_ENST00000506348.1_Silent_p.T1171T NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 1171 homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 TGATCATGACCATGGCCTTCG 0.592000 4 45 1.23904e-05 1.7078e-05 0.000602 1 0 CSMD3 114788 broad.mit.edu 37 8 114388966 114388966 + Splice_Site SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:114388966C>A ENST00000343508.3 - 2 229 c.e2+1 CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000297405.5_Intron NM_198124.1 NP_937757.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 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 AGGATATCTACCTGAGGCTGT 0.547000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 59 5.9392e-07 8.75935e-07 0.001168 1 0 ANKRD12 23253 broad.mit.edu 37 18 9254231 9254231 + Silent SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:9254231A>T ENST00000383440.2 + 8 1154 c.897A>T c.(895-897)gtA>gtT p.V299V ANKRD12_ENST00000400020.3_Silent_p.V299V|ANKRD12_ENST00000262126.3_Silent_p.V322V NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 322 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 CTCAATCTGTAAATCCTTCTA 0.338000 7 41 0 0 0.003080 0 0 CPA2 1358 broad.mit.edu 37 7 129909638 129909638 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:129909638G>T ENST00000222481.4 + 3 338 c.283G>T c.(283-285)Gtg>Ttg p.V95L NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 95 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) GATTGAAGACGTGCAGGTAAT 0.517000 11 21 3.86212e-05 5.11408e-05 0.008291 1 0 CCDC136 64753 broad.mit.edu 37 7 128454800 128454800 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:128454800C>G ENST00000297788.4 + 15 3239 c.2872C>G c.(2872-2874)Cag>Gag p.Q958E CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 958 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 GGGGCAGCTGCAGTGCTGCCA 0.582000 3 24 0 0 0.004672 0 0 SRGAP1 57522 broad.mit.edu 37 12 64456799 64456799 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:64456799A>T ENST00000355086.3 + 7 1428 c.904A>T c.(904-906)Att>Ttt p.I302F RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.I262F|SRGAP1_ENST00000357825.3_Missense_Mutation_p.I302F NM_020762.2 NP_065813.1 Q7Z6B7 SRGP1_HUMAN SLIT-ROBO Rho GTPase activating protein 1 302 axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) CTTAGACATTATTGAGAATGC 0.453000 8 36 0 0 0.003080 0 0 POM121L12 285877 broad.mit.edu 37 7 53104079 53104079 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:53104079A>T ENST00000408890.4 + 1 731 c.715A>T c.(715-717)Agc>Tgc p.S239C NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 239 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 TCTGAAGCCGAGCCTCGGCCC 0.647000 14 44 0 0 0.001855 0 0 NPTX2 4885 broad.mit.edu 37 7 98256612 98256612 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:98256612C>A ENST00000265634.3 + 4 1189 c.1024C>A c.(1024-1026)Cac>Aac p.H342N NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 342 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GGCCCCCTGGCACCCCATCAA 0.657000 6 29 5.9392e-07 8.75935e-07 0.001168 1 0 PPEF1 5475 broad.mit.edu 37 X 18822024 18822024 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:18822024G>T ENST00000361511.4 + 14 1574 c.1080G>T c.(1078-1080)ctG>ctT p.L360L PPEF1_ENST00000349874.5_Intron|PPEF1_ENST00000359763.6_Silent_p.L307L|PPEF1_ENST00000544635.1_Silent_p.L295L|PPEF1_ENST00000543630.1_Intron NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 360 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) TTGATATTCTGTGGAGTGATC 0.373000 29 57 3.90053e-15 7.66459e-15 0.002445 1 0 KCNH5 27133 broad.mit.edu 37 14 63416895 63416895 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:63416895G>C ENST00000322893.7 - 7 1593 c.1325C>G c.(1324-1326)aCa>aGa p.T442R KCNH5_ENST00000394968.1_Missense_Mutation_p.T384R|KCNH5_ENST00000420622.2_Missense_Mutation_p.T442R|KCNH5_ENST00000394964.2_Missense_Mutation_p.T384R NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 442 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CTCCACATCTGTGGTAGGAGC 0.398000 11 33 0 0 0.000978 0 0 RYR1 6261 broad.mit.edu 37 19 38984999 38984999 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:38984999G>A ENST00000355481.4 + 39 6413 c.6282G>A c.(6280-6282)ctG>ctA p.L2094L RYR1_ENST00000360985.3_Silent_p.L2094L|RYR1_ENST00000359596.3_Silent_p.L2094L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2094 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) CAGGGTCCCTGCAGGAGCTGG 0.647000 9 30 0 0 0.006214 0 0 CHRNA3 1136 broad.mit.edu 37 15 78894452 78894452 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:78894452C>A ENST00000326828.5 - 5 916 c.532G>T c.(532-534)Ggt>Tgt p.G178C CHRNA3_ENST00000348639.3_Missense_Mutation_p.G178C NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 178 activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GACCAGGAACCGAACTTCATG 0.502000 22 108 1.66031e-10 2.89908e-10 0.003954 1 0 USP33 23032 broad.mit.edu 37 1 78180383 78180383 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:78180383T>C ENST00000370793.1 - 20 2570 c.2224A>G c.(2224-2226)Att>Gtt p.I742V USP33_ENST00000370792.3_Missense_Mutation_p.I734V|USP33_ENST00000370794.3_Missense_Mutation_p.I711V|USP33_ENST00000357428.1_Missense_Mutation_p.I742V NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 742 DUSP 1. axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 TGTCGAGAAATATAAAACTGA 0.373000 21 47 0 0 0.001882 0 0 STRIP1 85369 broad.mit.edu 37 1 110581882 110581882 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:110581882G>T ENST00000369795.3 + 4 436 c.414G>T c.(412-414)agG>agT p.R138S STRIP1_ENST00000369794.2_Missense_Mutation_p.R138S|STRIP1_ENST00000369796.1_Missense_Mutation_p.R43S NM_033088.2 NP_149079.2 striatin interacting protein 1 TCACTGCCAGGGAGAAGAGAC 0.567000 5 26 5.9392e-07 8.75935e-07 0.001168 1 0 ASXL3 80816 broad.mit.edu 37 18 31324912 31324912 + Silent SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr18:31324912T>A ENST00000269197.5 + 12 5100 c.5100T>A c.(5098-5100)tcT>tcA p.S1700S NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1700 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AGGGAGCCTCTAGTGTACAAC 0.527000 6 52 0 0 0.001984 0 0 CLCN5 1184 broad.mit.edu 37 X 49689821 49689821 + Translation_Start_Site SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:49689821G>A ENST00000376088.3 + 0 554 CLCN5_ENST00000376091.3_De_novo_Start_InFrame|CLCN5_ENST00000482218.1_3'UTR NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 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) GGGCCACATAGCTGCCTTTCT 0.453000 7 36 0 0 0.001984 0 0 ADCY1 107 broad.mit.edu 37 7 45719353 45719353 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:45719353G>T ENST00000297323.7 + 11 1966 c.1944G>T c.(1942-1944)ctG>ctT p.L648L NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 648 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 membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) TCTGCTTCCTGGTGGCCTGTG 0.557000 21 36 1.64293e-13 3.13693e-13 0.003330 1 0 ZNF200 7752 broad.mit.edu 37 16 3283746 3283746 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:3283746C>A ENST00000431561.3 - 2 622 c.10G>T c.(10-12)Gca>Tca p.A4S ZNF200_ENST00000396870.4_Missense_Mutation_p.A4S|ZNF200_ENST00000396871.4_Missense_Mutation_p.A4S|ZNF200_ENST00000575948.1_Missense_Mutation_p.A4S|ZNF200_ENST00000396868.3_Missense_Mutation_p.A4S|ZNF200_ENST00000414144.2_Missense_Mutation_p.A4S NM_001145447.1|NM_003454.3 NP_001138919.1|NP_003445.2 P98182 ZN200_HUMAN zinc finger protein 200 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 17 ACCACTTTTGCAGCCATCATG 0.537000 21 108 1.28384e-07 1.98011e-07 0.001882 1 0 WDR36 134430 broad.mit.edu 37 5 110438058 110438058 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:110438058C>G ENST00000506538.2 + 6 1298 c.725C>G c.(724-726)aCa>aGa p.T242R WDR36_ENST00000513710.2_Missense_Mutation_p.T242R|WDR36_ENST00000505303.1_Missense_Mutation_p.T186R NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 242 response to stimulus|rRNA processing|visual perception small-subunit processome cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) CTTCTATATACATTTCCAGGA 0.303000 5 40 0 0 0.000602 0 0 POLRMT 5442 broad.mit.edu 37 19 619717 619717 + Nonsense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:619717G>A ENST00000588649.2 - 13 3019 c.2935C>T c.(2935-2937)Cag>Tag p.Q979* NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 979 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|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) TCCAGCACCTGTGCCACCCGC 0.687000 11 97 0 0 0.008291 0 0 MYH1 4619 broad.mit.edu 37 17 10399347 10399347 + Nonsense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:10399347C>A ENST00000226207.5 - 35 5183 c.5089G>T c.(5089-5091)Gaa>Taa p.E1697* CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1697 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCTGTCTGTTCCAGAGTGGCC 0.572000 6 36 2.0095e-06 2.89402e-06 0.001984 1 0 GJA5 2702 broad.mit.edu 37 1 147230977 147230977 + Nonsense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:147230977C>A ENST00000271348.2 - 2 531 c.370G>T c.(370-372)Gag>Tag p.E124* GJA5_ENST00000369237.1_Nonsense_Mutation_p.E124* NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 124 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) ACCGGGTACTCGTAAGAGCCA 0.607000 12 60 0.000219431 0.000274391 0.002450 1 0 ZNF479 90827 broad.mit.edu 37 7 57188132 57188132 + Missense_Mutation SNP A A C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:57188132A>C ENST00000331162.4 - 5 1260 c.990T>G c.(988-990)tgT>tgG p.C330W NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) AGGCTTTGCCACATTCCTCAC 0.448000 15 35 0 0 0.004990 0 0 LRP1B 53353 broad.mit.edu 37 2 141625316 141625316 + Silent SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:141625316A>T ENST00000389484.3 - 27 5393 c.4422T>A c.(4420-4422)gcT>gcA p.A1474A NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1474 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ATAGAGACACAGCAAAGGGAT 0.433000 TSP Lung(27;0.18) 7 69 0 0 0.001984 0 0 DUSP27 92235 broad.mit.edu 37 1 167088547 167088547 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:167088547G>C ENST00000361200.2 + 5 665 c.499G>C c.(499-501)Gcg>Ccg p.A167P DUSP27_ENST00000271385.5_Missense_Mutation_p.A167P|DUSP27_ENST00000443333.1_Missense_Mutation_p.A167P Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 167 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 TCTGAATGCTGCGCATGGCAC 0.562000 8 27 0 0 0.008291 0 0 RPS27 6232 broad.mit.edu 37 1 153963616 153963616 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:153963616C>T ENST00000392558.4 + 2 67 c.32C>T c.(31-33)tCt>tTt p.S11F RPS27_ENST00000368567.4_Missense_Mutation_p.S11F|RPS27_ENST00000493224.1_3'UTR P42677 RS27_HUMAN ribosomal protein S27 11 cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus DNA binding|structural constituent of ribosome|zinc ion binding kidney(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTTCATCCCTCTCCAGAAGAG 0.498000 6 13 0 0 0.001168 0 0 ITLN1 55600 broad.mit.edu 37 1 160850418 160850418 + Silent SNP G G A rs142057123 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:160850418G>A ENST00000326245.3 - 6 760 c.645C>T c.(643-645)gaC>gaT p.D215D ITLN1_ENST00000487531.1_5'UTR NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 215 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TTTTCTGGGCGTCGCCAAAAT 0.438000 11 131 0 0 0.001368 0 0 OR2W5 441932 broad.mit.edu 37 1 247655350 247655350 + RNA SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:247655350G>C ENST00000522351.1 + 0 981 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CTTCTGGGGTGGGAGAAAGGG 0.502000 10 57 0 0 0.006214 0 0 LRRC34 151827 broad.mit.edu 37 3 169525463 169525463 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:169525463T>C ENST00000522526.2 - 3 729 c.292A>G c.(292-294)Aac>Gac p.N98D LRRC34_ENST00000522830.1_Missense_Mutation_p.N37D|LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000446859.1_Missense_Mutation_p.N98D|LRRC34_ENST00000316515.7_Missense_Mutation_p.N85D Q8IZ02 LRC34_HUMAN leucine rich repeat containing 34 85 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2) 10 all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) AAGCGATTGTTACCAGCAATG 0.289000 14 23 0 0 0.007413 0 0 INPP5B 3633 broad.mit.edu 37 1 38352595 38352595 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:38352595C>A ENST00000373023.2 - 12 1429 c.1336G>T c.(1336-1338)Gcc>Tcc p.A446S INPP5B_ENST00000373024.3_Missense_Mutation_p.A366S|INPP5B_ENST00000373026.1_Missense_Mutation_p.A446S|INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000373027.1_Missense_Mutation_p.A202S|INPP5B_ENST00000458109.2_Missense_Mutation_p.A129S NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 446 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) ACAGTCTCGGCTTCCACTTCT 0.483000 7 40 8.12818e-05 0.000103758 0.001984 1 0 VAT1L 57687 broad.mit.edu 37 16 77918688 77918688 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:77918688G>A ENST00000302536.2 + 7 1219 c.1066G>A c.(1066-1068)Gct>Act p.A356T NM_020927.1 NP_065978.1 Q9HCJ6 VAT1L_HUMAN vesicle amine transport 1-like 356 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 CTCCTTGTGGGCTCTGGAGGA 0.473000 4 12 0 0 0.000248 0 0 IGHG1 3500 broad.mit.edu 37 14 106204126 106204126 + RNA SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:106204126G>A ENST00000390548.2 - 0 1172 TCATGTTCCTGTAGTCGGGGA 0.647000 5 24 0 0 0.003080 0 0 TECTA 7007 broad.mit.edu 37 11 121028721 121028721 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:121028721G>T ENST00000392793.1 + 14 4748 c.4477G>T c.(4477-4479)Ggc>Tgc p.G1493C TECTA_ENST00000264037.2_Missense_Mutation_p.G1493C O75443 TECTA_HUMAN tectorin alpha 1493 VWFD 4. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGCCGGCGGCGGCGTCTTCCG 0.667000 3 28 0.004672 0.00521346 0.004672 1 0 MPDZ 8777 broad.mit.edu 37 9 13183472 13183472 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:13183472C>G ENST00000319217.7 - 19 2841 c.2594G>C c.(2593-2595)aGt>aCt p.S865T MPDZ_ENST00000381022.2_Missense_Mutation_p.S865T|MPDZ_ENST00000447879.1_Missense_Mutation_p.S865T|MPDZ_ENST00000541718.1_Missense_Mutation_p.S865T|MPDZ_ENST00000536827.1_Missense_Mutation_p.S865T|MPDZ_ENST00000381015.4_Missense_Mutation_p.S865T|MPDZ_ENST00000546205.1_Missense_Mutation_p.S865T NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 865 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) ACCACAAGAACTGCCATGAAG 0.403000 5 15 0 0 0.001168 0 0 NTRK2 4915 broad.mit.edu 37 9 87285783 87285783 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:87285783C>A ENST00000304053.6 + 2 603 c.120C>A c.(118-120)gcC>gcA p.A40A NTRK2_ENST00000277120.3_Silent_p.A40A|NTRK2_ENST00000395882.1_Silent_p.A40A|NTRK2_ENST00000376213.1_Silent_p.A40A|NTRK2_ENST00000376214.1_Silent_p.A40A|NTRK2_ENST00000359847.3_Silent_p.A40A|NTRK2_ENST00000323115.4_Silent_p.A40A|NTRK2_ENST00000376208.1_Silent_p.A40A NM_001018065.2 NP_001018075.1 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 40 LRRNT. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 AATGCAGTGCCTCTCGGATCT 0.597000 TSP Lung(25;0.17) 18 38 6.94344e-10 1.18478e-09 0.006122 1 0 MUC5B 727897 broad.mit.edu 37 11 1271630 1271630 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:1271630T>A ENST00000447027.1 + 31 13587 c.13529T>A c.(13528-13530)cTt>cAt p.L4510H MUC5B_ENST00000529681.1_Missense_Mutation_p.L4507H Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4507 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) GCAACTGCCCTTCCAGCACTG 0.627000 23 168 0 0 0.001882 0 0 BCOR 54880 broad.mit.edu 37 X 39934249 39934249 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:39934249T>A ENST00000342274.4 - 4 712 c.350A>T c.(349-351)gAa>gTa p.E117V BCOR_ENST00000397354.3_Missense_Mutation_p.E117V|BCOR_ENST00000378455.4_Missense_Mutation_p.E117V|BCOR_ENST00000378444.4_Missense_Mutation_p.E117V NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 117 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 TGGATTTCTTTCCGAAGAAAA 0.512000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 8 49 0 0 0.004482 0 0 OR2T4 127074 broad.mit.edu 37 1 248525220 248525220 + Missense_Mutation SNP T T G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:248525220T>G ENST00000366475.1 + 1 338 c.338T>G c.(337-339)aTg>aGg p.M113R NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTGCCCAAGATGCTCCTGGAC 0.488000 6 234 0 0 0.003080 0 0 FJX1 24147 broad.mit.edu 37 11 35640710 35640710 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:35640710C>T ENST00000317811.4 + 1 976 c.526C>T c.(526-528)Cgc>Tgc p.R176C NM_014344.3 NP_055159.2 Q86VR8 FJX1_HUMAN four jointed box 1 (Drosophila) 176 extracellular space lung(1)|urinary_tract(1) 2 all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739) all_hematologic(20;0.107) CGACGGCACCCGCGCCTGCGT 0.736000 3 7 0 0 0.001168 0 0 NLRP7 199713 broad.mit.edu 37 19 55450411 55450411 + Missense_Mutation SNP C C G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:55450411C>G ENST00000446217.1 - 6 2262 c.1860G>C c.(1858-1860)aaG>aaC p.K620N NLRP7_ENST00000328092.5_Missense_Mutation_p.K592N|NLRP7_ENST00000340844.2_Missense_Mutation_p.K592N|NLRP7_ENST00000448121.2_Missense_Mutation_p.K592N|NLRP7_ENST00000590030.1_Missense_Mutation_p.K592N|NLRP7_ENST00000592784.1_Missense_Mutation_p.K592N|NLRP7_ENST00000588756.1_Missense_Mutation_p.K592N Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 592 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TAGAAATTTCCTTGAACGGGG 0.498000 7 38 0 0 0.001984 0 0 ABCA12 26154 broad.mit.edu 37 2 215901724 215901724 + Missense_Mutation SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:215901724T>A ENST00000272895.7 - 8 1157 c.938A>T c.(937-939)cAg>cTg p.Q313L AC072062.3_ENST00000437897.3_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 313 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) AACAGACTTCTGGAGGGTTCT 0.418000 19 64 0 0 0.008871 0 0 FAM209B 388799 broad.mit.edu 37 20 55111389 55111389 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:55111389G>T ENST00000371325.1 + 2 507 c.411G>T c.(409-411)atG>atT p.M137I NM_001013646.2 NP_001013668.2 Q5JX69 CT107_HUMAN family with sequence similarity 209, member B 137 integral to membrane AAGGTGCCATGGCAACAGGCA 0.423000 10 40 1.58986e-06 2.2995e-06 0.008291 1 0 CFH 3075 broad.mit.edu 37 1 196695642 196695642 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:196695642G>T ENST00000367429.4 + 13 2156 c.1916G>T c.(1915-1917)gGg>gTg p.G639V NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 639 Sushi 11. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CTCCTCAATGGGAATGTTAAG 0.318000 5 13 2.7689e-08 4.42236e-08 0.001984 1 0 ACTB 60 broad.mit.edu 37 7 5567995 5567995 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:5567995T>C ENST00000331789.5 - 4 910 c.719A>G c.(718-720)tAc>tGc p.Y240C NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 240 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) AGGCAGCTCGTAGCTCTTCTC 0.587000 21 66 0 0 0.008871 0 0 SLC26A3 1811 broad.mit.edu 37 7 107423710 107423710 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:107423710C>A ENST00000340010.5 - 9 1243 c.1059G>T c.(1057-1059)gtG>gtT p.V353V SLC26A3_ENST00000422236.2_Silent_p.V318V NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 353 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 CTGAAAAGGCCACTGCAAATG 0.443000 18 28 1.99824e-07 3.04708e-07 0.004990 1 0 VWA3B 200403 broad.mit.edu 37 2 98732176 98732176 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:98732176G>C ENST00000477737.1 + 3 462 c.258G>C c.(256-258)caG>caC p.Q86H VWA3B_ENST00000435344.1_Missense_Mutation_p.Q86H|VWA3B_ENST00000451075.2_Missense_Mutation_p.S20T NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 86 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGTTTCCACAGCTCTACAGAG 0.458000 3 23 0 0 0.004672 0 0 RASSF6 166824 broad.mit.edu 37 4 74453587 74453587 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:74453587G>C ENST00000307439.5 - 5 646 c.352C>G c.(352-354)Cct>Gct p.P118A RASSF6_ENST00000335049.5_Missense_Mutation_p.P106A|RASSF6_ENST00000342081.3_Missense_Mutation_p.P150A|RASSF6_ENST00000395777.2_Missense_Mutation_p.P118A NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 150 apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) TCAGACATAGGAATCTGGGTC 0.373000 11 33 0 0 0.001368 0 0 KIR2DL1 3802 broad.mit.edu 37 19 55294936 55294936 + Splice_Site SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:55294936A>T ENST00000336077.6 + 7 857 c.e7-1 KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Splice_Site|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Splice_Site NM_014218.2 NP_055033.2 P43626 KI2L1_HUMAN killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 immune response|natural killer cell inhibitory signaling pathway integral to plasma membrane protein binding|receptor activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CATCTTCTACAGATGCTGCGG 0.522000 10 65 0 0 0.000978 0 0 CACNA1S 779 broad.mit.edu 37 1 201027603 201027603 + Missense_Mutation SNP G G A rs144935943 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:201027603G>A ENST00000362061.3 - 28 3768 c.3542C>T c.(3541-3543)cCc>cTc p.P1181L CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1181L NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1181 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CACATTCCAGGGGTCTCCAAA 0.547000 6 22 0 0 0.001984 0 0 ZNF525 170958 broad.mit.edu 37 19 53879127 53879127 + Silent SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:53879127T>C ENST00000467003.1 + 3 213 c.12T>C c.(10-12)aaT>aaC p.N4N ZNF525_ENST00000593918.1_Silent_p.N40N|ZNF525_ENST00000474037.1_Silent_p.N40N|ZNF525_ENST00000475179.1_Silent_p.N40N|ZNF525_ENST00000491101.1_Silent_p.N40N zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 TGCTGGAGAATTATAGGAACC 0.458000 4 106 0 0 0.000602 0 0 ZNF804B 219578 broad.mit.edu 37 7 88966181 88966181 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:88966181G>T ENST00000333190.4 + 4 4494 c.3885G>T c.(3883-3885)ttG>ttT p.L1295F NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1295 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTCCTACATTGTTTGGTCCTC 0.443000 HNSCC(36;0.09) 17 162 0.000566183 0.000685112 0.004990 1 0 GLP1R 2740 broad.mit.edu 37 6 39034045 39034045 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:39034045C>A ENST00000373256.4 + 5 518 c.475C>A c.(475-477)Ctg>Atg p.L159M NM_002062.3 NP_002053.3 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor 159 activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 31 Exenatide(DB01276)|Glucagon recombinant(DB00040) CTTCTCTGCTCTGGTTATCGC 0.597000 6 29 3.59834e-05 4.79304e-05 0.001168 1 0 NEIL3 55247 broad.mit.edu 37 4 178243616 178243616 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:178243616G>T ENST00000264596.3 + 2 278 c.160G>T c.(160-162)Gct>Tct p.A54S NM_018248.2 NP_060718.2 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 54 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CCACTAGGCTGCTGCACTGAA 0.378000 Base excision repair (BER), DNA glycosylases 15 85 3.45872e-05 4.67169e-05 0.004007 1 0 ASB11 140456 broad.mit.edu 37 X 15320871 15320871 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:15320871G>T ENST00000537676.1 - 2 249 c.177C>A c.(175-177)gcC>gcA p.A59A ASB11_ENST00000344384.4_Silent_p.A59A|ASB11_ENST00000480796.1_Silent_p.A80A|ASB11_ENST00000380470.3_Silent_p.A80A Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box containing 11 80 intracellular signal transduction breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1) 16 Hepatocellular(33;0.183) AAGTTTTAAGGGCCAGTAAGC 0.433000 7 37 8.12818e-05 0.000103758 0.001984 1 0 ZKSCAN3 80317 broad.mit.edu 37 6 28327735 28327735 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:28327735G>T ENST00000377255.3 + 3 669 c.372G>T c.(370-372)ttG>ttT p.L124F ZKSCAN3_ENST00000341464.5_Intron|ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.L124F NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 124 SCAN box. positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 TGGAGTATTTGGAGAGGCAGC 0.582000 6 27 9.70103e-10 1.65113e-09 0.008291 1 0 TPX2 22974 broad.mit.edu 37 20 30381818 30381818 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:30381818G>T ENST00000340513.4 + 15 2313 c.1785G>T c.(1783-1785)caG>caT p.Q595H TPX2_ENST00000300403.6_Missense_Mutation_p.Q559H Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 559 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) AAGAACTGCAGAAAGGGGAGG 0.378000 11 46 6.40141e-05 8.32925e-05 0.000978 1 0 SCN1A 6323 broad.mit.edu 37 2 166892600 166892600 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:166892600C>T ENST00000423058.2 - 16 3404 c.3387G>A c.(3385-3387)acG>acA p.T1129T SCN1A_ENST00000409050.1_Silent_p.T1101T|SCN1A_ENST00000375405.3_Silent_p.T1118T|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Silent_p.T1129T|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1129 voltage-gated sodium channel complex voltage-gated sodium channel activity p.T1118T(1) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TAAAGTCTTCCGTGTTTAAAT 0.348000 20 57 0 0 0.001523 0 0 COL11A1 1301 broad.mit.edu 37 1 103354185 103354185 + Splice_Site SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:103354185C>A ENST00000358392.2 - 62 4909 c.4590_splice c.e62-1 p.G1531_splice COL11A1_ENST00000512756.1_Splice_Site_p.G1403_splice|COL11A1_ENST00000370096.3_Splice_Site_p.G1519_splice|COL11A1_ENST00000353414.4_Splice_Site_p.G1480_splice NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1519 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCCAGCGGGTCCCTGTTAGAA 0.413000 11 20 0.000219431 0.000274391 0.002450 1 0 FYTTD1 84248 broad.mit.edu 37 3 197483313 197483313 + Missense_Mutation SNP G G C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr3:197483313G>C ENST00000241502.3 + 2 342 c.120G>C c.(118-120)ttG>ttC p.L40F FYTTD1_ENST00000424384.2_5'UTR|FYTTD1_ENST00000428395.2_5'UTR|FYTTD1_ENST00000415708.2_Missense_Mutation_p.L14F NM_032288.6 NP_115664.2 Q96QD9 UIF_HUMAN forty-two-three domain containing 1 40 mRNA export from nucleus nuclear speck mRNA binding|protein binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.175) TCATCAAGTTGAATCGAAAGG 0.383000 5 20 0 0 0.000602 0 0 PCDH8 5100 broad.mit.edu 37 13 53420780 53420780 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:53420780G>T ENST00000377942.3 - 1 1995 c.1792C>A c.(1792-1794)Cgc>Agc p.R598S PCDH8_ENST00000338862.4_Missense_Mutation_p.R598S NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 598 Cadherin 5. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TCCAGCACGCGCACTTGCACT 0.657000 5 5 0.000602214 0.000718394 0.000602 1 0 ERBB4 2066 broad.mit.edu 37 2 212530125 212530125 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:212530125C>T ENST00000342788.4 - 15 2104 c.1794G>A c.(1792-1794)caG>caA p.Q598Q ERBB4_ENST00000402597.1_Silent_p.Q598Q|ERBB4_ENST00000436443.1_Silent_p.Q598Q NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 598 Cys-rich. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TGTTTGCCCCCTGTAAGCCAT 0.458000 TSP Lung(8;0.080) 10 35 0 0 0.006214 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43771344 43771344 + Missense_Mutation SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:43771344T>C ENST00000389420.3 - 32 4818 c.4819A>G c.(4819-4821)Agt>Ggt p.S1607G NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1607 TSP type-1 14. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TGTCTGTAACTAAATCCACAG 0.358000 6 22 0 0 0.001168 0 0 FREM2 341640 broad.mit.edu 37 13 39265078 39265078 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr13:39265078G>T ENST00000280481.7 + 1 3813 c.3597G>T c.(3595-3597)atG>atT p.M1199I NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1199 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GAGAATTTATGGTGATGGAAG 0.408000 17 95 9.16793e-09 1.49256e-08 0.004990 1 0 TRHDE 29953 broad.mit.edu 37 12 73046831 73046831 + Missense_Mutation SNP T T G TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:73046831T>G ENST00000261180.4 + 17 2840 c.2744T>G c.(2743-2745)cTg>cGg p.L915R NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 915 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 GAGGTGGTGCTGGATCAAGAT 0.333000 8 24 0 0 0.006214 0 0 LRP1B 53353 broad.mit.edu 37 2 140995780 140995780 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:140995780C>A ENST00000389484.3 - 89 14472 c.13501G>T c.(13501-13503)Gat>Tat p.D4501Y NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4501 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGATCATGATCTACCTCATAC 0.348000 TSP Lung(27;0.18) 6 35 8.12818e-05 0.000103758 0.001984 1 0 OR5D18 219438 broad.mit.edu 37 11 55587841 55587841 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:55587841C>A ENST00000333976.4 + 1 756 c.736C>A c.(736-738)Ctg>Atg p.L246M NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TGCCTCCCACCTGACTGCCAT 0.507000 6 55 0.00307968 0.00351219 0.003080 1 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 4 46 0 0 0.000248 0 0 DNAH9 1770 broad.mit.edu 37 17 11835517 11835517 + Missense_Mutation SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:11835517G>A ENST00000262442.3 + 64 12360 c.12292G>A c.(12292-12294)Gca>Aca p.A4098T DNAH9_ENST00000454412.2_Missense_Mutation_p.A4022T|DNAH9_ENST00000396001.2_Missense_Mutation_p.A410T NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4098 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) GGAGGCCAACGCAAAGGTAAA 0.498000 7 23 0 0 0.003080 0 0 LPHN3 23284 broad.mit.edu 37 4 62903549 62903549 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:62903549C>A ENST00000512091.1 + 23 4235 c.3488C>A c.(3487-3489)cCt>cAt p.P1163H LPHN3_ENST00000507164.1_Missense_Mutation_p.P1222H|LPHN3_ENST00000514591.1_Missense_Mutation_p.P1163H|LPHN3_ENST00000514157.1_Missense_Mutation_p.P1154H|LPHN3_ENST00000506700.1_Missense_Mutation_p.P1154H|LPHN3_ENST00000507625.1_Missense_Mutation_p.P1222H|LPHN3_ENST00000504896.1_Missense_Mutation_p.P1163H|LPHN3_ENST00000511324.1_Missense_Mutation_p.P1222H|LPHN3_ENST00000545650.1_Missense_Mutation_p.P1163H|LPHN3_ENST00000508693.1_Missense_Mutation_p.P1231H|LPHN3_ENST00000508946.1_Missense_Mutation_p.P1163H|LPHN3_ENST00000506720.1_Missense_Mutation_p.P1231H|LPHN3_ENST00000506746.1_Missense_Mutation_p.P1222H|LPHN3_ENST00000514996.1_Missense_Mutation_p.P1154H|LPHN3_ENST00000509896.1_Missense_Mutation_p.P1231H Q9HAR2 LPHN3_HUMAN latrophilin 3 1141 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TCTCGAACTCCTGGACGCTAC 0.418000 7 50 8.12818e-05 0.000103758 0.001984 1 0 FLG2 388698 broad.mit.edu 37 1 152326682 152326682 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:152326682G>T ENST00000388718.5 - 3 3652 c.3580C>A c.(3580-3582)Caa>Aaa p.Q1194K FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1194 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATATATGTTGTCCAGAACTA 0.483000 19 83 8.28177e-16 1.64658e-15 0.007413 1 0 TMPRSS15 5651 broad.mit.edu 37 21 19698822 19698822 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr21:19698822G>T ENST00000284885.3 - 16 1881 c.1848C>A c.(1846-1848)ctC>ctA p.L616L NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 616 CUB 2. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 CGTTAGTGATGAGAAGCACAG 0.458000 21 51 7.45023e-12 1.36452e-11 0.001523 1 0 CD177 57126 broad.mit.edu 37 19 43858498 43858498 + RNA SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:43858498C>T ENST00000378009.4 + 0 375 CD177_ENST00000378012.2_RNA|CD177_ENST00000607517.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) ACTTCTGCAACAACCTCGTTA 0.672000 4 49 0 0 0.000248 0 0 TP53 7157 broad.mit.edu 37 17 7574026 7574026 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:7574026C>A ENST00000269305.4 - 10 1190 c.1001G>T c.(1000-1002)gGg>gTg p.G334V TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.G334V|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 334 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. G -> V (in sporadic cancers; somatic mutation).|G -> W (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.G334V(7)|p.I332fs*5(1)|p.?(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) GCGCTCACGCCCACGGATCTG 0.522000 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) 7 22 1.76689e-08 2.83544e-08 0.006214 1 0 GPR111 222611 broad.mit.edu 37 6 47649585 47649585 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:47649585C>A ENST00000398742.2 + 5 1135 c.1086C>A c.(1084-1086)acC>acA p.T362T GPR111_ENST00000296862.1_Silent_p.T430T|GPR111_ENST00000507065.1_Silent_p.T362T Q8IZF7 GP111_HUMAN G protein-coupled receptor 111 430 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 AATTGTTTACCTCTTTCTCAA 0.438000 7 61 0.00448238 0.005069 0.004482 1 0 GALNT6 11226 broad.mit.edu 37 12 51753114 51753114 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:51753114C>A ENST00000543196.2 - 7 1375 c.1170G>T c.(1168-1170)gtG>gtT p.V390V GALNT6_ENST00000356317.3_Silent_p.V390V Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 390 Catalytic subdomain B. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 CACACTGCCACACCTGATGTA 0.582000 17 61 1.15088e-07 1.77911e-07 0.004007 1 0 ZNF728 388523 broad.mit.edu 37 19 23159841 23159841 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:23159841A>T ENST00000594710.1 - 4 443 c.298T>A c.(298-300)Ttg>Atg p.L100M NM_001267716.1 NP_001254645.1 zinc finger protein 728 TATCTTCTCAATATCACTTTT 0.323000 10 22 0 0 0.008291 0 0 ZNF202 7753 broad.mit.edu 37 11 123597077 123597077 + Silent SNP T T A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:123597077T>A ENST00000336139.4 - 8 1937 c.1575A>T c.(1573-1575)acA>acT p.T525T ZNF202_ENST00000530393.1_Silent_p.T525T|ZNF202_ENST00000529691.1_Silent_p.T525T O95125 ZN202_HUMAN zinc finger protein 202 525 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) TTTGGTGTGTTGTTAACACAG 0.493000 25 53 0 0 0.004656 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321360 79321360 + Missense_Mutation SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr9:79321360C>T ENST00000428286.1 - 8 5953 c.4753G>A c.(4753-4755)Gct>Act p.A1585T PRUNE2_ENST00000376718.3_Missense_Mutation_p.A1944T Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 1944 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 TCACCAGCAGCAGACACAAAG 0.493000 5 44 0 0 0.000602 0 0 BPNT1 10380 broad.mit.edu 37 1 220232313 220232313 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:220232313C>A ENST00000469520.2 - 10 1249 c.800G>T c.(799-801)gGg>gTg p.G267V BPNT1_ENST00000354807.3_Missense_Mutation_p.G282V|BPNT1_ENST00000544404.1_Missense_Mutation_p.G212V|BPNT1_ENST00000322067.7_Missense_Mutation_p.G267V|BPNT1_ENST00000414869.2_Missense_Mutation_p.G231V O95861 BPNT1_HUMAN 3'(2'), 5'-bisphosphate nucleotidase 1 267 3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process cytosol 3'(2'),5'-bisphosphate nucleotidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1) 14 GBM - Glioblastoma multiforme(131;0.0558) AAGAACATTCCCATGGATATC 0.393000 6 72 3.59834e-05 4.79304e-05 0.001168 1 0 ECHDC1 55862 broad.mit.edu 37 6 127611329 127611329 + Silent SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:127611329G>T ENST00000531967.1 - 6 1112 c.609C>A c.(607-609)atC>atA p.I203I ECHDC1_ENST00000474289.2_Silent_p.I197I|ECHDC1_ENST00000430841.2_Silent_p.I197I|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000454859.3_Silent_p.I197I|ECHDC1_ENST00000454591.2_Silent_p.I122I|ECHDC1_ENST00000309620.9_Silent_p.I180I|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000488087.1_5'UTR NM_001139510.1 NP_001132982.1 Q9NTX5 ECHD1_HUMAN enoyl CoA hydratase domain containing 1 203 catalytic activity large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 4 GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156) GTCTACTTCCGATTATTTCAA 0.443000 16 38 2.23348e-06 3.20291e-06 0.004007 1 0 IL9R 3581 broad.mit.edu 37 X 155234100 155234100 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:155234100C>A ENST00000424344.3 + 6 753 c.386C>A c.(385-387)cCc>cAc p.P129H IL9R_ENST00000540897.1_Intron|IL9R_ENST00000369423.2_Intron|IL9R_ENST00000244174.5_Missense_Mutation_p.P150H Q01113 IL9R_HUMAN interleukin 9 receptor 150 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CTGGACCCGCCCTCTGACTTG 0.542000 6 37 5.18039e-06 7.31988e-06 0.003080 1 0 FLG 2312 broad.mit.edu 37 1 152280768 152280768 + Silent SNP T T C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:152280768T>C ENST00000368799.1 - 3 6629 c.6594A>G c.(6592-6594)caA>caG p.Q2198Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2198 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATCTCCTGATTGTTCCTTGT 0.542000 Ichthyosis 14 463 0 0 0.003163 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8651527 8651527 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:8651527C>A ENST00000270328.4 - 19 2584 c.2318G>T c.(2317-2319)gGg>gTg p.G773V ADAMTS10_ENST00000595838.1_Missense_Mutation_p.G260V|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.G773V Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 773 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 AAAGGTGGTCCCAGCTAGAGG 0.632000 OREG0025221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 66 0.000978159 0.00115057 0.000978 1 0 APLNR 187 broad.mit.edu 37 11 57003413 57003413 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:57003413G>T ENST00000606794.1 - 1 1262 c.1066C>A c.(1066-1068)Ccc>Acc p.P356T NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 356 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 CCCATGTTGGGGCCGGGCCCC 0.627000 23 34 9.86323e-18 1.97852e-17 0.003954 1 0 LGR5 8549 broad.mit.edu 37 12 71976302 71976302 + Missense_Mutation SNP A A T rs147607370 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr12:71976302A>T ENST00000266674.5 + 17 1930 c.1619A>T c.(1618-1620)cAg>cTg p.Q540L LGR5_ENST00000536515.1_Missense_Mutation_p.Q468L|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.Q516L O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 540 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 CATTCAGTGCAGTGTTCACCT 0.433000 10 41 0 0 0.000978 0 0 MED13 9969 broad.mit.edu 37 17 60042440 60042440 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr17:60042440C>A ENST00000397786.2 - 20 4847 c.4771G>T c.(4771-4773)Gct>Tct p.A1591S NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1591 androgen 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|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GTCTGTAGAGCTGATGTCTGT 0.453000 9 34 1.12685e-05 1.56921e-05 0.004482 1 0 IL16 3603 broad.mit.edu 37 15 81578129 81578129 + Silent SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr15:81578129C>A ENST00000394660.2 + 10 1650 c.1290C>A c.(1288-1290)ccC>ccA p.P430P IL16_ENST00000302987.4_Silent_p.P430P NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 430 Interaction with GRIN2A.|PDZ 2. 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 ACTGTGATCCCGGTCCAGTCC 0.522000 19 82 2.94398e-08 4.67982e-08 0.007413 1 0 PPIE 10450 broad.mit.edu 37 1 40207081 40207081 + Splice_Site SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:40207081G>T ENST00000324379.5 + 3 193 c.174_splice c.e3+1 p.E58_splice PPIE_ENST00000480169.1_3'UTR|PPIE_ENST00000470213.1_Splice_Site_p.E58_splice|PPIE_ENST00000372830.1_Splice_Site_p.E58_splice|PPIE_ENST00000356511.2_Splice_Site_p.E58_splice NM_006112.3 NP_006103.1 Q9UNP9 PPIE_HUMAN peptidylprolyl isomerase E (cyclophilin E) 58 RRM. protein folding|regulation of transcription, DNA-dependent catalytic step 2 spliceosome cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 9 all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AGTTGGCAGAGGTGAGAGTCT 0.388000 12 57 4.36969e-10 7.49407e-10 0.001855 1 0 C1orf127 148345 broad.mit.edu 37 1 11008728 11008728 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:11008728C>A ENST00000377004.4 - 12 1463 c.1464G>T c.(1462-1464)gaG>gaT p.E488D C1orf127_ENST00000377008.4_Missense_Mutation_p.E321D NM_001170754.1 NP_001164225.1 B7ZLG7 B7ZLG7_HUMAN chromosome 1 open reading frame 127 339 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CCTGGACACCCTCTACAGGCT 0.677000 7 41 8.12818e-05 0.000103758 0.001984 1 0 ABRACL 58527 broad.mit.edu 37 6 139363914 139363914 + Silent SNP C C T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr6:139363914C>T ENST00000367660.3 + 3 320 c.120C>T c.(118-120)gcC>gcT p.A40A NM_021243.2 NP_067066.1 Q9P1F3 CF115_HUMAN ABRA C-terminal like 40 ATAAATGTGCCAACCTCTTTG 0.403000 18 61 0 0 0.008871 0 0 CHRNA6 8973 broad.mit.edu 37 8 42612118 42612118 + Silent SNP G G A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr8:42612118G>A ENST00000276410.2 - 4 682 c.327C>T c.(325-327)cgC>cgT p.R109R CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Silent_p.R94R NM_004198.3 NP_004189.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 109 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) CTGCAGGAACGCGAAGAGTCT 0.388000 13 45 0 0 0.003163 0 0 IFRD1 3475 broad.mit.edu 37 7 112112292 112112292 + Nonsense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:112112292G>T ENST00000403825.3 + 10 1321 c.1060G>T c.(1060-1062)Gaa>Taa p.E354* IFRD1_ENST00000535603.1_Nonsense_Mutation_p.E304*|IFRD1_ENST00000005558.4_Nonsense_Mutation_p.E354* NM_001550.3 NP_001541.2 O00458 IFRD1_HUMAN interferon-related developmental regulator 1 354 multicellular organismal development|myoblast cell fate determination binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1) 15 TTTTCCAACAGAAACCATTAA 0.393000 18 41 0.00074312 0.000880251 0.006122 1 0 NLRP13 126204 broad.mit.edu 37 19 56413443 56413443 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:56413443C>A ENST00000588751.1 - 9 2771 c.2747G>T c.(2746-2748)tGt>tTt p.C916F NLRP13_ENST00000342929.3_Missense_Mutation_p.C916F Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 916 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CAAGGCCTCACACAGGAACTT 0.542000 7 34 1.26484e-09 2.12595e-09 0.003080 1 0 FAM47A 158724 broad.mit.edu 37 X 34149660 34149660 + Missense_Mutation SNP G G T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:34149660G>T ENST00000346193.3 - 1 787 c.736C>A c.(736-738)Cat>Aat p.H246N NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 246 Pro-rich. p.L235_H246delLRPEPPETGVSH(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GGGCGGATATGGGACACTCCA 0.642000 6 39 8.12818e-05 0.000103758 0.001984 1 0 TYW1B 441250 broad.mit.edu 37 7 72209576 72209576 + RNA SNP C C G rs147711959 by1000genomes TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr7:72209576C>G ENST00000438125.1 - 0 579 Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CTCGGAGCATCGACTATGACA 0.413000 3 38 0 0 0.001168 0 0 SP3 6670 broad.mit.edu 37 2 174820498 174820498 + Missense_Mutation SNP C C A TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:174820498C>A ENST00000310015.6 - 4 1272 c.742G>T c.(742-744)Ggt>Tgt p.G248C SP3_ENST00000418194.2_Missense_Mutation_p.G180C|SP3_ENST00000455789.2_Missense_Mutation_p.G195C NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 248 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) TGGGTTTGACCAGGAAAAGAT 0.458000 9 58 0.00621372 0.00688823 0.006214 1 0 LGR6 59352 broad.mit.edu 37 1 202288091 202288091 + Frame_Shift_Del DEL G G - rs151146799 byFrequency TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:202288091delG ENST00000367278.3 + 18 2749 c.2660delG c.(2659-2661)cgfs p.R887fs LGR6_ENST00000255432.7_Frame_Shift_Del_p.R835fs|LGR6_ENST00000439764.2_Frame_Shift_Del_p.R748fs NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 887 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 GAAGCTGGGCGGCCCCCTGGG 0.627 16 57 --- --- --- --- FH 2271 broad.mit.edu 37 1 241675385 241675385 + Frame_Shift_Del DEL C C - rs11545654 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr1:241675385delC ENST00000366560.3 - 4 475 c.437delG c.(436-438)gafs p.G146fs NM_000143.3 NP_000134.2 P07954 FUMH_HUMAN fumarate hydratase 146 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2) 26 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) TGTCTGAGTTCCTGATCCAGT 0.353 """Mis, N, F""" """lieomyomatosis, renal""" Hereditary Leiomyomatosis and Renal Cell Cancer 7 78 --- --- --- --- POTEJ 653781 broad.mit.edu 37 2 131369243 131369243 + Frame_Shift_Del DEL T T - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr2:131369243delT ENST00000409602.1 + 1 190 c.138delT c.(136-138)tcfs p.S46fs NM_001277083.1 NP_001264012.1 POTE ankyrin domain family, member J lung(5) 5 TGGGCACTTCTGGAGACCAGG 0.602 4 2 --- --- --- --- SH3RF1 57630 broad.mit.edu 37 4 170043254 170043255 + Frame_Shift_Del DEL CT CT - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr4:170043254_170043255delCT ENST00000284637.9 - 7 1683_1684 c.1342_1343delAG c.(1342-1344)tfs p.S448fs SH3RF1_ENST00000508685.1_5'UTR NM_020870.3 NP_065921.2 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 448 Interaction with AKT2 (By similarity).|SH3 3. Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) CACTTACACACTGGGGCGAGTC 0.545 9 34 --- --- --- --- VCAN 1462 broad.mit.edu 37 5 82836883 82836884 + Frame_Shift_Ins INS - - C TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr5:82836883_82836884insC ENST00000265077.3 + 8 8626_8627 c.8061_8062insC c.(8059-8064)ctccacfs p.H2688fs VCAN_ENST00000343200.5_Frame_Shift_Ins_p.H1701fs|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2688 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACGTTTTACTTCCCACGGCAAC 0.441 9 49 --- --- --- --- NRBF2 29982 broad.mit.edu 37 10 64893181 64893181 + Frame_Shift_Del DEL C C - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr10:64893181delC ENST00000435510.2 + 1 97 c.6delC c.(4-6)ttfs p.F2fs NRBF2_ENST00000277746.6_5'UTR Q96F24 NRBF2_HUMAN nuclear receptor binding factor 2 0 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent cytoplasm|nucleoplasm protein binding large_intestine(2)|lung(3)|skin(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) CCTCCATGTTCCCCGGCGCCA 0.627 2 4 --- --- --- --- TYR 7299 broad.mit.edu 37 11 88961080 88961081 + Frame_Shift_Ins INS - - A rs61754389 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:88961080_88961081insA ENST00000263321.5 + 3 1628_1629 c.1126_1127insA c.(1126-1128)ggtfs p.G376fs NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 376 TMSQVQ -> HVPGT (in Ref. 2; AAA61241). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) AACAATGTCCCAGGTACAGGGA 0.411 7 68 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + RNA INS - - T rs33924686 by1000genomes TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr11:102738795_102738796insT ENST00000532855.1 - 0 725_726 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 5 5 --- --- --- --- SRP54-AS1 100506157 broad.mit.edu 37 14 35390220 35390220 + RNA DEL A A - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr14:35390220delA ENST00000556355.1 - 0 524 CTGAAAAGGGAACCTGCTTCT 0.378 2 4 --- --- --- --- LA16c-306E5.3 0 broad.mit.edu 37 16 3546140 3546141 + RNA INS - - A rs74546027 TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr16:3546140_3546141insA ENST00000574423.2 + 0 111 gactccgtctcaaaaaaaaaaa 0.559 2 4 --- --- --- --- ZNF575 284346 broad.mit.edu 37 19 44038551 44038551 + Frame_Shift_Del DEL C C - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:44038551delC ENST00000458714.2 + 4 1081 c.274delC c.(274-276)ccfs p.P92fs ZNF575_ENST00000601282.1_Intron|ZNF575_ENST00000314228.5_5'UTR Q86XF7 ZN575_HUMAN zinc finger protein 575 103 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1) 4 Prostate(69;0.0199) CCGCGCCCTGCCCCTAGGTTC 0.632 2 4 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45381598 45381600 + In_Frame_Del DEL GAG GAG - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:45381598_45381600delGAG ENST00000252485.4 + 6 1512_1514 c.1161_1163delGAG c.(1159-1164)gtg>gt p.VR387del PVRL2_ENST00000252483.5_Intron NM_002856.2 NP_002847.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 384 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TGCTgagggtgaggaggaggagg 0.665 2 4 --- --- --- --- STRN4 29888 broad.mit.edu 37 19 47231253 47231253 + Frame_Shift_Del DEL C C - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:47231253delC ENST00000391910.3 - 8 1501 c.1051delG c.(1051-1053)tcfs p.V351fs STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Frame_Shift_Del_p.V232fs|STRN4_ENST00000263280.6_Frame_Shift_Del_p.V351fs Q9NRL3 STRN4_HUMAN striatin, calmodulin binding protein 4 351 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) TGGAGTTTGACCCGACGGCTT 0.647 10 32 --- --- --- --- FIZ1 84922 broad.mit.edu 37 19 56104337 56104337 + Frame_Shift_Del DEL C C - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:56104337delC ENST00000221665.3 - 3 1059 c.970delG c.(970-972)agfs p.E324fs NM_032836.2 NP_116225.2 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) TCCGAGGGCTCGGCGGCCGCC 0.776 2 4 --- --- --- --- NLRP8 126205 broad.mit.edu 37 19 56490891 56490891 + Frame_Shift_Del DEL A A - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr19:56490891delA ENST00000291971.3 + 9 3079 c.3008delA c.(3007-3009)ggfs p.E1003fs NLRP8_ENST00000590542.1_Frame_Shift_Del_p.E984fs NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 1003 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) ACCTTGTGCGAGGCCTTCTCA 0.478 14 75 --- --- --- --- DEFB116 245930 broad.mit.edu 37 20 29891135 29891136 + Frame_Shift_Ins INS - - T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr20:29891135_29891136insT ENST00000400549.1 - 2 187_188 c.188_189insA c.(187-189)agafs p.R63fs NM_001037731.1 NP_001032820.1 Q30KQ4 DB116_HUMAN defensin, beta 116 63 defense response to bacterium extracellular region kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) ACTTTTGATCATTTGGGCAGGT 0.416 34 242 --- --- --- --- SH3BGR 6450 broad.mit.edu 37 21 40823995 40823995 + Frame_Shift_Del DEL G G - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr21:40823995delG ENST00000333634.4 + 1 240 c.162delG c.(160-162)ttfs p.L54fs SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380637.3_Intron|SH3BGR_ENST00000380631.1_Intron|SH3BGR_ENST00000380634.1_Intron NM_007341.2 NP_031367.1 P55822 SH3BG_HUMAN SH3 domain binding glutamic acid-rich protein 54 protein complex assembly cytosol SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2) 8 all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133) STAD - Stomach adenocarcinoma(101;0.00151) GGGGTGTGTTGGGGGGAGTCC 0.552 42 116 --- --- --- --- PCNT 5116 broad.mit.edu 37 21 47832852 47832852 + Frame_Shift_Del DEL G G - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chr21:47832852delG ENST00000359568.5 + 29 6203 c.6096delG c.(6094-6096)tcfs p.S2032fs PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2032 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AGCTGCAGTCGGAGCTGCTCT 0.617 9 61 --- --- --- --- OCRL 4952 broad.mit.edu 37 X 128722155 128722155 + Splice_Site DEL G G - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:128722155delG ENST00000371113.4 + 21 2421 c.e21-1 OCRL_ENST00000357121.5_Splice_Site NM_000276.3 NP_000267.2 Q01968 OCRL_HUMAN oculocerebrorenal syndrome of Lowe 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 TTCTTTGGTAGGAGGACCTGT 0.488 12 34 --- --- --- --- BCORL1 63035 broad.mit.edu 37 X 129149178 129149178 + Frame_Shift_Del DEL G G - TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66ba22b1-aab9-4c8d-be49-5b417cb53094 af54c77e-4dbd-4955-b021-db04c738c39d g.chrX:129149178delG ENST00000540052.1 + 3 2474 c.2430delG c.(2428-2430)ccfs p.P810fs BCORL1_ENST00000218147.7_Frame_Shift_Del_p.P810fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.P810fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.P810fs NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 810 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 CCACGGGGCCGGCAAATATTT 0.577 25 74 --- --- --- ---