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 CEP44 80817 broad.mit.edu 37 4 175220309 175220309 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr4:175220309C>G ENST00000503780.1 + 3 451 c.37C>G c.(37-39)Cta>Gta p.L13V CEP44_ENST00000296519.4_Missense_Mutation_p.L13V|CEP44_ENST00000457424.2_Missense_Mutation_p.L13V|CEP44_ENST00000426172.1_Missense_Mutation_p.L13V NM_001040157.2 NP_001035247.1 Q9C0F1 CEP44_HUMAN centrosomal protein 44kDa 13 centrosome|midbody|spindle pole endometrium(2)|large_intestine(4)|lung(5)|stomach(1) 12 CTTACGGAACCTAGAACAGGT 0.363000 4 36 0 0 1 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6870608 6870608 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr18:6870608G>C ENST00000419673.2 + 6 571 c.354G>C c.(352-354)aaG>aaC p.K118N ARHGAP28_ENST00000418986.1_Missense_Mutation_p.K118N|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.K100N|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.K113N|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.K277N|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.K118N|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.K225N|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.K277N NM_001010000.2 NP_001010000.1 B4DXL2 B4DXL2_HUMAN Rho GTPase activating protein 28 100 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) TTCTGGAAAAGAACATTCCAC 0.294000 4 65 0 0 1 0 0 SLC17A6 57084 broad.mit.edu 37 11 22387132 22387132 + Missense_Mutation SNP T T A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr11:22387132T>A ENST00000263160.3 + 7 1225 c.788T>A c.(787-789)gTg>gAg p.V263E NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 263 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 TGGCTTTTGGTGTCTTATGAA 0.403000 8 57 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113649233 113649233 + Splice_Site SNP T T G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr8:113649233T>G ENST00000297405.5 - 22 3772 c.3526_splice c.e22-1 p.E1176_splice CSMD3_ENST00000455883.2_Splice_Site_p.E1072_splice|CSMD3_ENST00000343508.3_Splice_Site_p.E1136_splice|CSMD3_ENST00000352409.3_Splice_Site_p.E1176_splice NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1176 CUB 6. 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 CAAGGTTATATTCTGTAAATT 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 84 0 0 1 0 0 KPNA5 3841 broad.mit.edu 37 6 117043403 117043403 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr6:117043403C>G ENST00000368564.1 + 9 1019 c.871C>G c.(871-873)Caa>Gaa p.Q291E KPNA5_ENST00000356348.1_Missense_Mutation_p.Q291E O15131 IMA5_HUMAN karyopherin alpha 5 (importin alpha 6) 288 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) TGATAAAATTCAAGCAGTCAT 0.368000 3 37 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8374822 8374822 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr12:8374822G>C ENST00000538603.1 - 7 1549 c.991C>G c.(991-993)Ctc>Gtc p.L331V FAM90A1_ENST00000307435.6_Missense_Mutation_p.L331V NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 331 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) GGAGGTTGGAGATTCTCCGGG 0.647000 6 22 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45399636 45399636 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr15:45399636C>G ENST00000389039.6 - 14 1985 c.1600G>C c.(1600-1602)Gac>Cac p.D534H DUOX2_ENST00000603300.1_Missense_Mutation_p.D534H Q9NRD8 DUOX2_HUMAN dual oxidase 2 534 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) TTTCGGATGTCTTCAATCTCC 0.552000 11 87 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139165053 139165053 + Silent SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr8:139165053G>A ENST00000395297.1 - 13 1835 c.1665C>T c.(1663-1665)gaC>gaT p.D555D NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 555 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TAGATTTTACGTCAATGTAGG 0.488000 HNSCC(54;0.14) 18 73 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150916415 150916415 + Missense_Mutation SNP G G T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:150916415G>T ENST00000271640.5 + 8 1085 c.895G>T c.(895-897)Gat>Tat p.D299Y SETDB1_ENST00000368962.2_Missense_Mutation_p.D299Y|SETDB1_ENST00000368969.4_Missense_Mutation_p.D299Y|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368963.1_Missense_Mutation_p.231_231insI NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 299 Tudor 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TTTCTTTGATGATGGCTATGC 0.398000 4 84 0.184627 0.186042 1 1 0 POP1 10940 broad.mit.edu 37 8 99170478 99170478 + Silent SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr8:99170478G>A ENST00000401707.2 + 16 3135 c.3054G>A c.(3052-3054)gcG>gcA p.A1018A POP1_ENST00000349693.3_Silent_p.A1018A NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 1018 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) ATCGATTTGCGAGGATTGCTA 0.507000 7 127 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33960196 33960196 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:33960196C>G ENST00000361328.3 + 8 2405 c.2252C>G c.(2251-2253)tCt>tGt p.S751C NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 751 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AGTGACCGCTCTAACCTCAAT 0.458000 7 94 0 0 1 0 0 OR1L6 392390 broad.mit.edu 37 9 125512513 125512513 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr9:125512513C>T ENST00000373684.1 + 1 495 c.495C>T c.(493-495)aaC>aaT p.N165N OR1L6_ENST00000304720.2_Silent_p.N129N Q8NGR2 OR1L6_HUMAN olfactory receptor, family 1, subfamily L, member 6 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 CCATCTGCAACCCCTTACACT 0.542000 9 114 0 0 1 0 0 WDR63 126820 broad.mit.edu 37 1 85559220 85559220 + Missense_Mutation SNP A A T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:85559220A>T ENST00000294664.6 + 9 1117 c.937A>T c.(937-939)Acc>Tcc p.T313S WDR63_ENST00000326813.8_Missense_Mutation_p.T274S|WDR63_ENST00000370596.1_Missense_Mutation_p.T274S NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 313 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) AGAAGAAGGCACCTTTGGGGA 0.413000 5 68 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51621457 51621457 + Silent SNP T T C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr8:51621457T>C ENST00000522124.1 + 17 1864 c.1203T>C c.(1201-1203)taT>taC p.Y401Y SNTG1_ENST00000518864.1_Silent_p.Y401Y|SNTG1_ENST00000517473.1_Silent_p.Y401Y|SNTG1_ENST00000276467.5_Silent_p.Y401Y NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 401 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) GCAAGACCTATGCATGTGTGC 0.363000 8 66 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 4 42 2.7689e-08 3.07266e-08 1 1 0 HCN1 348980 broad.mit.edu 37 5 45262557 45262557 + Silent SNP G G T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr5:45262557G>T ENST00000303230.4 - 8 2196 c.2139C>A c.(2137-2139)gcC>gcA p.A713A NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 713 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 AAGTTCGAGCGGCCAGAGGGC 0.657000 3 40 0.00909568 0.00930803 1 1 0 OR2J2 26707 broad.mit.edu 37 6 29141422 29141422 + Nonsense_Mutation SNP A A T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr6:29141422A>T ENST00000377167.2 + 1 112 c.10A>T c.(10-12)Aaa>Taa p.K4* NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 AATGATGATTAAAAAAAATGC 0.358000 4 87 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12884817 12884817 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:12884817C>T ENST00000535591.1 - 4 1489 c.1294G>A c.(1294-1296)Gat>Aat p.D432N NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 432 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 CAGTATTGATCTGCCTCCAGG 0.458000 33 119 0 0 1 0 0 CEP152 22995 broad.mit.edu 37 15 49034200 49034200 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr15:49034200C>T ENST00000380950.2 - 25 4120 c.3933G>A c.(3931-3933)atG>atA p.M1311I CEP152_ENST00000325747.5_Missense_Mutation_p.M1218I|CEP152_ENST00000399334.3_Missense_Mutation_p.M1255I NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 1255 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) AATATTTGCGCATCTTTCGGG 0.438000 6 111 0 0 1 0 0 ZNF606 80095 broad.mit.edu 37 19 58490029 58490029 + Silent SNP A A T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr19:58490029A>T ENST00000341164.4 - 7 2639 c.2019T>A c.(2017-2019)atT>atA p.I673I ZNF606_ENST00000536132.1_Silent_p.I583I NM_025027.3 NP_079303.2 Q8WXB4 ZN606_HUMAN zinc finger protein 606 673 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) CACCAGTGTGAATTCTCCGAT 0.408000 11 76 0 0 1 0 0 NBPF12 149013 broad.mit.edu 37 1 146398458 146398458 + Silent SNP G G T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:146398458G>T ENST00000442909.2 + 7 1280 c.444G>T c.(442-444)ctG>ctT p.L148L NBPF12_ENST00000446760.2_Silent_p.L148L|NBPF12_ENST00000309471.8_Silent_p.L73L neuroblastoma breakpoint family, member 12 ovary(2) 2 AAGAACAGCTGGCTGAGGGGT 0.587000 6 137 3.59834e-05 3.847e-05 1 1 0 PLCD4 84812 broad.mit.edu 37 2 219492879 219492879 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:219492879C>T ENST00000450993.2 + 7 1239 c.900C>T c.(898-900)ttC>ttT p.F300F PLCD4_ENST00000417849.1_Silent_p.F300F|PLCD4_ENST00000432688.1_Silent_p.F300F NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 300 PI-PLC X-box. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) ACCACTACTTCATCTGCTCTT 0.532000 11 100 0 0 1 0 0 SP3 6670 broad.mit.edu 37 2 174820352 174820352 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:174820352C>T ENST00000310015.6 - 4 1418 c.888G>A c.(886-888)ttG>ttA p.L296L SP3_ENST00000455789.2_Silent_p.L243L|SP3_ENST00000418194.2_Silent_p.L228L NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 296 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) CTGTGTTTATCAAATGTCCGT 0.398000 8 158 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8465607 8465607 + Silent SNP A A G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr9:8465607A>G ENST00000381196.4 - 29 4116 c.3573T>C c.(3571-3573)taT>taC p.Y1191Y PTPRD_ENST00000397606.3_Silent_p.Y770Y|PTPRD_ENST00000358503.5_Silent_p.Y1169Y|PTPRD_ENST00000356435.5_Silent_p.Y1191Y|PTPRD_ENST00000537002.1_Silent_p.Y777Y|PTPRD_ENST00000355233.5_Silent_p.Y780Y|PTPRD_ENST00000397611.3_Silent_p.Y777Y|PTPRD_ENST00000397617.3_Silent_p.Y770Y|PTPRD_ENST00000486161.1_Silent_p.Y780Y|PTPRD_ENST00000360074.4_Silent_p.Y1178Y|PTPRD_ENST00000540109.1_Silent_p.Y1191Y NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1191 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) GAGCGGCAATATATGGCTTTA 0.423000 TSP Lung(15;0.13) 6 81 0 0 1 0 0 POU6F1 5463 broad.mit.edu 37 12 51585524 51585524 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr12:51585524C>T ENST00000389243.4 - 10 1354 c.415G>A c.(415-417)Gag>Aag p.E139K POU6F1_ENST00000550824.1_Missense_Mutation_p.E139K|POU6F1_ENST00000333640.10_Missense_Mutation_p.E139K Q14863 PO6F1_HUMAN POU class 6 homeobox 1 139 Gln/Pro-rich.|POU-specific. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 ATCCCATCCTCATCCAGACTT 0.542000 6 105 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113679958 113679958 + Nonsense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr11:113679958G>C ENST00000003302.4 - 17 2059 c.1991C>G c.(1990-1992)tCa>tGa p.S664* USP28_ENST00000260188.5_Nonsense_Mutation_p.S664*|USP28_ENST00000545540.1_Nonsense_Mutation_p.S539*|USP28_ENST00000544967.1_Nonsense_Mutation_p.S372* NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 664 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) CATTTGATCTGATTCAGTTGG 0.428000 16 253 0 0 1 0 0 C12orf42 374470 broad.mit.edu 37 12 103795446 103795446 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr12:103795446G>A ENST00000378113.2 - 3 311 c.86C>T c.(85-87)cCt>cTt p.P29L C12orf42_ENST00000315192.8_Missense_Mutation_p.P29L|C12orf42_ENST00000548883.1_Missense_Mutation_p.P29L|C12orf42_ENST00000548048.1_5'UTR|C12orf42_ENST00000548789.1_5'UTR NM_001099336.1 NP_001092806.1 Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 29 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 AATATAGCAAGGGGATTTCTG 0.428000 5 26 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33959020 33959020 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:33959020C>G ENST00000361328.3 + 7 1831 c.1678C>G c.(1678-1680)Cct>Gct p.P560A NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 560 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AGGGACATGCCCTTTCTATGA 0.597000 9 100 0 0 1 0 0 SOWAHC 65124 broad.mit.edu 37 2 110373465 110373465 + Missense_Mutation SNP C C T rs147455127 TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:110373465C>T ENST00000356454.3 + 1 1555 c.1399C>T c.(1399-1401)Cgt>Tgt p.R467C NM_023016.3 NP_075392.2 Q53LP3 ANR57_HUMAN sosondowah ankyrin repeat domain family member C 467 CTCTAGTGGACGTATAAAACC 0.597000 5 65 0 0 1 0 0 LRP12 29967 broad.mit.edu 37 8 105503752 105503752 + Missense_Mutation SNP T T A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr8:105503752T>A ENST00000276654.5 - 7 1837 c.1729A>T c.(1729-1731)Aat>Tat p.N577Y LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.N558Y NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 577 endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) AGCCTCAGATTTTCCAAAACA 0.348000 8 47 0 0 1 0 0 GEMIN6 79833 broad.mit.edu 37 2 39008728 39008728 + Silent SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:39008728G>A ENST00000281950.2 + 3 314 c.198G>A c.(196-198)caG>caA p.Q66Q GEMIN6_ENST00000409566.1_3'UTR|GEMIN6_ENST00000409011.1_3'UTR NM_024775.9 NP_079051.9 Q8WXD5 GEMI6_HUMAN gem (nuclear organelle) associated protein 6 66 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly Cajal body|cytosol|spliceosomal complex protein binding kidney(1)|large_intestine(3)|pancreas(1) 5 all_hematologic(82;0.21) ATGCTGTGCAGACTGTTGAAA 0.463000 4 76 0 0 1 0 0 NRP2 8828 broad.mit.edu 37 2 206580937 206580937 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:206580937G>A ENST00000360409.3 + 3 1063 c.272G>A c.(271-273)cGg>cAg p.R91Q NRP2_ENST00000540841.1_Missense_Mutation_p.R91Q|NRP2_ENST00000417189.1_Missense_Mutation_p.R91Q|NRP2_ENST00000355117.4_Missense_Mutation_p.R91Q|NRP2_ENST00000412873.2_Missense_Mutation_p.R91Q|NRP2_ENST00000357118.4_Missense_Mutation_p.R91Q|NRP2_ENST00000272849.3_Missense_Mutation_p.R91Q|NRP2_ENST00000357785.5_Missense_Mutation_p.R91Q|NRP2_ENST00000540178.1_Missense_Mutation_p.R91Q NM_003872.2|NM_201266.1|NM_201279.1 NP_003863.2|NP_957718.1|NP_958436.1 O60462 NRP2_HUMAN neuropilin 2 91 CUB 1. angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 52 ATCGAGATTCGGGATGGGGAC 0.547000 5 86 0 0 1 0 0 UTP11L 51118 broad.mit.edu 37 1 38484941 38484941 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:38484941C>T ENST00000373014.4 + 6 514 c.453C>T c.(451-453)gtC>gtT p.V151V UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR NM_016037.3 NP_057121.2 Q9Y3A2 UTP11_HUMAN UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) 151 induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing cytoplasm|extracellular space|nucleolus|small-subunit processome protein binding NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AGTTTGATGTCGCAACTCACC 0.453000 8 103 0 0 1 0 0 IRX4 50805 broad.mit.edu 37 5 1879678 1879678 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr5:1879678C>T ENST00000505790.1 - 5 1132 c.676G>A c.(676-678)Gag>Aag p.E226K IRX4_ENST00000513692.1_Missense_Mutation_p.E226K|IRX4_ENST00000231357.2_Missense_Mutation_p.E226K|IRX4_ENST00000505938.1_5'UTR NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 226 Poly-Glu. heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) ccctcctcctcctcgccctcc 0.687000 3 35 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29295589 29295589 + Missense_Mutation SNP C C A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:29295589C>A ENST00000331664.5 - 1 1538 c.1539G>T c.(1537-1539)agG>agT p.R513S NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 513 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 AAGATTGTGGCCTTGAATGTG 0.542000 12 89 0.000978159 0.00102492 1 1 0 DSP 1832 broad.mit.edu 37 6 7585618 7585618 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr6:7585618C>T ENST00000379802.3 + 24 8464 c.8123C>T c.(8122-8124)tCa>tTa p.S2708L DSP_ENST00000418664.2_Missense_Mutation_p.S2109L NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2708 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAGAAGATGTCAGCAGCAGAG 0.552000 11 160 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52676401 52676401 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr13:52676401C>G ENST00000355568.4 - 10 776 c.637G>C c.(637-639)Gtt>Ctt p.V213L NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 213 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) ATCTTCAGAACCAGCTGCTGT 0.388000 12 133 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41061990 41061990 + Splice_Site SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr19:41061990C>T ENST00000352632.3 + 25 5171 c.5084_splice c.e25-1 p.S1695_splice SPTBN4_ENST00000392023.1_Splice_Site_p.S371_splice|SPTBN4_ENST00000598249.1_Splice_Site_p.S1695_splice|SPTBN4_ENST00000595535.1_Splice_Site_p.S1695_splice|SPTBN4_ENST00000392025.1_Splice_Site_p.S438_splice|SPTBN4_ENST00000338932.3_Splice_Site_p.S1695_splice Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1695 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCCCCTTCAGCGAGCAGATCA 0.657000 5 8 0 0 1 0 0 SP3 6670 broad.mit.edu 37 2 174820724 174820724 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:174820724C>T ENST00000310015.6 - 4 1046 c.516G>A c.(514-516)gtG>gtA p.V172V SP3_ENST00000455789.2_Silent_p.V119V|SP3_ENST00000418194.2_Silent_p.V104V NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 172 Transactivation domain (Gln-rich). 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) TCTGTGGTATCACTTGATATT 0.403000 10 259 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10195049 10195049 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:10195049G>C ENST00000377157.3 + 15 2355 c.1294G>C c.(1294-1296)Gat>Cat p.D432H UBE4B_ENST00000253251.8_Missense_Mutation_p.D548H|UBE4B_ENST00000343090.6_Missense_Mutation_p.D677H NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 677 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) TTCACAGACAGATGATAGATT 0.378000 3 40 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26553161 26553161 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr12:26553161C>T ENST00000381340.3 - 53 7846 c.7430G>A c.(7429-7431)aGg>aAg p.R2477K RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2477 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GTCACACGTCCTTTCAATTCC 0.368000 22 55 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33957252 33957252 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:33957252C>T ENST00000361328.3 + 6 1547 c.1394C>T c.(1393-1395)aCc>aTc p.T465I ZSCAN20_ENST00000373413.2_Missense_Mutation_p.T411I NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 465 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GTTGAGTCTACCCAGGGGCCC 0.537000 19 139 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78681790 78681790 + Silent SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr17:78681790C>G ENST00000306801.3 + 4 860 c.498C>G c.(496-498)gtC>gtG p.V166V RPTOR_ENST00000570891.1_Silent_p.V166V|RPTOR_ENST00000544334.2_Silent_p.V166V|RPTOR_ENST00000537330.1_5'UTR NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 166 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 AGGTCTGGGTCTTCAACAAGG 0.602000 4 23 0 0 1 0 0 CASD1 64921 broad.mit.edu 37 7 94167034 94167034 + Missense_Mutation SNP A A G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr7:94167034A>G ENST00000297273.4 + 9 1381 c.1094A>G c.(1093-1095)gAa>gGa p.E365G NM_022900.4 NP_075051.4 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 365 integral to membrane NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 31 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) TCTTCATTAGAAATACTTTTA 0.338000 4 74 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17202832 17202832 + Missense_Mutation SNP T T A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr16:17202832T>A ENST00000261381.6 - 12 2684 c.2600A>T c.(2599-2601)tAc>tTc p.Y867F NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 867 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CTGCTCCATGTAGGCATTGCG 0.582000 7 57 0 0 1 0 0 HAVCR1 26762 broad.mit.edu 37 5 156479435 156479435 + Missense_Mutation SNP C C A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr5:156479435C>A ENST00000339252.3 - 3 1142 c.610G>T c.(610-612)Gtg>Ttg p.V204L HAVCR1_ENST00000522693.1_Missense_Mutation_p.V204L|HAVCR1_ENST00000523175.1_Missense_Mutation_p.V204L|HAVCR1_ENST00000544197.1_Missense_Mutation_p.V204L|HAVCR1_ENST00000425854.1_Missense_Mutation_p.V204L NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 199 Thr-rich. interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTTGTTGTCACTGGAACACTT 0.473000 21 254 1.01871e-10 1.14009e-10 1 1 0 PLCD1 5333 broad.mit.edu 37 3 38053097 38053097 + Missense_Mutation SNP G G T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr3:38053097G>T ENST00000463876.1 - 4 912 c.559C>A c.(559-561)Cag>Aag p.Q187K PLCD1_ENST00000334661.4_Missense_Mutation_p.Q166K|PLCD1_ENST00000479619.1_5'UTR NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 166 EF-hand 2. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) AGGAAGTTCTGCAGCTCCTTG 0.537000 18 18 1.02788e-11 1.16023e-11 1 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146829381 146829381 + Silent SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr7:146829381C>G ENST00000361727.3 + 8 1644 c.1128C>G c.(1126-1128)gtC>gtG p.V376V NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 376 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.V376V(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CGGTGCCTGTCTTTTTCAACG 0.458000 HNSCC(39;0.1) 12 65 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186670981 186670981 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:186670981C>G ENST00000343098.5 + 17 17215 c.17215C>G c.(17215-17217)Cga>Gga p.R5739G FSIP2_ENST00000424728.1_Missense_Mutation_p.R5650G 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 AATAAGAATTCGAACATCAAG 0.383000 5 53 0 0 1 0 0 ZNF544 27300 broad.mit.edu 37 19 58757773 58757773 + Nonsense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr19:58757773G>A ENST00000599227.1 + 5 724 c.140G>A c.(139-141)tGg>tAg p.W47* ZNF544_ENST00000596929.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000415203.2_Nonsense_Mutation_p.W47*|ZNF544_ENST00000596652.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000595981.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000600044.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000333581.5_Nonsense_Mutation_p.W47*|ZNF544_ENST00000269829.4_Nonsense_Mutation_p.W47*|ZNF544_ENST00000599953.1_5'UTR|ZNF544_ENST00000600220.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000596597.1_3'UTR|ZNF544_ENST00000594384.1_Nonsense_Mutation_p.W47*|ZNF544_ENST00000596825.1_Nonsense_Mutation_p.W47*|CTD-3138B18.4_ENST00000600029.1_Intron Q6NX49 ZN544_HUMAN zinc finger protein 544 47 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) CTGGAGACCTGGGAGCATATT 0.552000 19 81 0 0 1 0 0 PAF1 54623 broad.mit.edu 37 19 39880712 39880712 + Missense_Mutation SNP T T C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr19:39880712T>C ENST00000221265.3 - 3 497 c.167A>G c.(166-168)aAc>aGc p.N56S PAF1_ENST00000595564.1_Missense_Mutation_p.N46S|PAF1_ENST00000221266.7_Missense_Mutation_p.N46S NM_019088.3 NP_061961.2 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) 56 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2) 17 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) GTCTCACCTGTTCTGGTCGAA 0.527000 7 105 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142566032 142566032 + Missense_Mutation SNP A A G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr7:142566032A>G ENST00000392957.2 + 14 2739 c.1952A>G c.(1951-1953)tAc>tGc p.Y651C EPHB6_ENST00000442129.1_Missense_Mutation_p.Y651C|EPHB6_ENST00000411471.2_Missense_Mutation_p.Y374C NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 651 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CCCTCCACCTACGAGGACCCC 0.572000 8 63 0 0 1 0 0 HIRIP3 8479 broad.mit.edu 37 16 30005994 30005994 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr16:30005994C>G ENST00000279392.3 - 4 1302 c.472G>C c.(472-474)Gag>Cag p.E158Q HIRIP3_ENST00000564026.1_Intron NM_003609.4 NP_003600.2 Q9BW71 HIRP3_HUMAN HIRA interacting protein 3 158 Glu-rich. chromatin assembly or disassembly nucleus protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9) 17 TCACTGCTCTCCTCTCCCCTC 0.572000 22 262 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36841585 36841585 + Silent SNP A A G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr20:36841585A>G ENST00000279024.4 - 14 3733 c.3462T>C c.(3460-3462)ctT>ctC p.L1154L NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 1154 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) AGGTGGTGGCAAGCAAATGCT 0.657000 15 44 0 0 1 0 0 MED29 55588 broad.mit.edu 37 19 39883133 39883133 + Missense_Mutation SNP G G T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr19:39883133G>T ENST00000315588.5 + 2 358 c.309G>T c.(307-309)ttG>ttT p.L103F MED29_ENST00000599213.2_Missense_Mutation_p.L82F|MED29_ENST00000594368.1_Missense_Mutation_p.L82F NM_017592.1 NP_060062.1 Q9NX70 MED29_HUMAN mediator complex subunit 29 82 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex protein binding lung(2)|ovary(1)|pancreas(1) 4 all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CCCAAAACTTGATTCAGAACA 0.423000 17 28 7.45023e-12 8.44573e-12 1 1 0 ACSM2A 123876 broad.mit.edu 37 16 20482884 20482884 + Missense_Mutation SNP T T C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr16:20482884T>C ENST00000573854.1 + 6 881 c.767T>C c.(766-768)aTa>aCa p.I256T ACSM2A_ENST00000536134.1_Missense_Mutation_p.I28T|ACSM2A_ENST00000396104.2_Missense_Mutation_p.I256T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.I256T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.I177T|ACSM2A_ENST00000219054.6_Missense_Mutation_p.I256T|ACSM2A_ENST00000575558.1_3'UTR NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 256 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GCCTCTGATATAATGTGGACC 0.458000 7 116 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158254065 158254065 + Missense_Mutation SNP A A T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr4:158254065A>T ENST00000296526.7 + 7 1302 c.977A>T c.(976-978)aAt>aTt p.N326I GRIA2_ENST00000264426.9_Missense_Mutation_p.N326I|GRIA2_ENST00000393815.2_Missense_Mutation_p.N279I|GRIA2_ENST00000449365.1_Missense_Mutation_p.N279I|GRIA2_ENST00000507898.1_Missense_Mutation_p.N279I NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 326 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CGAAGGGGGAATGCAGGAGAC 0.478000 5 49 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52860891 52860891 + Missense_Mutation SNP C C A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr4:52860891C>A ENST00000343457.3 - 4 2303 c.2297G>T c.(2296-2298)tGc>tTc p.C766F NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 766 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 TTGATTCTTGCATTTCCCTGG 0.463000 15 43 2.61681e-11 2.94112e-11 1 1 0 CYB5D2 124936 broad.mit.edu 37 17 4047063 4047063 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr17:4047063G>C ENST00000301391.3 + 1 514 c.14G>C c.(13-15)gGa>gCa p.G5A CYB5D2_ENST00000575251.1_Intron|CYB5D2_ENST00000573984.1_Intron NM_144611.3 NP_653212.1 Q8WUJ1 NEUFC_HUMAN cytochrome b5 domain containing 2 5 nervous system development extracellular region heme binding breast(1)|large_intestine(3)|liver(2)|ovary(1) 7 TTGAGGTGCGGAGGCCGTGGG 0.627000 5 93 0 0 1 0 0 POLA2 23649 broad.mit.edu 37 11 65064728 65064728 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr11:65064728C>T ENST00000265465.3 + 18 2316 c.1785C>T c.(1783-1785)gtC>gtT p.V595V POLA2_ENST00000534785.1_3'UTR NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 595 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) CTGTGCAGGTCGTCAGGATCT 0.582000 9 33 0 0 1 0 0 DDX26B 203522 broad.mit.edu 37 X 134679459 134679459 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chrX:134679459C>G ENST00000370752.4 + 3 635 c.301C>G c.(301-303)Ctc>Gtc p.L101V DDX26B_ENST00000493637.1_3'UTR NM_182540.4 NP_872346.3 Q5JSJ4 DX26B_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B 101 VWFA. large_intestine(1)|lung(8) 9 Acute lymphoblastic leukemia(192;6.56e-05) TTTGTTAAATCTCAATAGATT 0.343000 5 40 0 0 1 0 0 BCAR3 8412 broad.mit.edu 37 1 94054673 94054673 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:94054673C>G ENST00000370244.1 - 7 1078 c.790G>C c.(790-792)Gag>Cag p.E264Q BCAR3_ENST00000260502.6_Missense_Mutation_p.E264Q|BCAR3_ENST00000370247.3_Missense_Mutation_p.E173Q|BCAR3_ENST00000370243.1_Missense_Mutation_p.E264Q NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 264 response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) CCATAATGCTCCTCCAGGCAC 0.672000 3 20 0 0 1 0 0 TAB3 257397 broad.mit.edu 37 X 30872591 30872591 + Silent SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chrX:30872591G>A ENST00000378933.1 - 3 1368 c.1191C>T c.(1189-1191)caC>caT p.H397H TAB3_ENST00000288422.2_Silent_p.H397H|TAB3_ENST00000378932.2_Silent_p.H397H|TAB3_ENST00000378930.3_Silent_p.H397H|TAB3-AS2_ENST00000445240.1_RNA NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 397 Pro-rich. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27 TGTACAGTGAGTGTTGATTCC 0.413000 8 69 0 0 1 0 0 FAM135A 57579 broad.mit.edu 37 6 71235240 71235240 + Nonsense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr6:71235240C>G ENST00000418814.2 + 15 3067 c.2453C>G c.(2452-2454)tCa>tGa p.S818* FAM135A_ENST00000505868.1_Nonsense_Mutation_p.S818*|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000370479.3_Nonsense_Mutation_p.S605*|FAM135A_ENST00000457062.2_Nonsense_Mutation_p.S605*|FAM135A_ENST00000361499.3_Nonsense_Mutation_p.S622* NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 818 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 GTAAAATTTTCATTAGGAAAT 0.358000 7 48 0 0 1 0 0 GPR148 344561 broad.mit.edu 37 2 131487460 131487460 + Missense_Mutation SNP G G T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:131487460G>T ENST00000309926.4 + 1 818 c.736G>T c.(736-738)Gcc>Tcc p.A246S NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 246 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) CTATGCAGAGGCCAAGACTTC 0.557000 5 109 0.014758 0.015044 1 1 0 FAT2 2196 broad.mit.edu 37 5 150946825 150946825 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr5:150946825G>C ENST00000261800.5 - 1 1680 c.1668C>G c.(1666-1668)aaC>aaG p.N556K NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 556 Cadherin 4. 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) TGTCATTCAAGTTCCTGAGCT 0.458000 8 72 0 0 1 0 0 MARCH7 64844 broad.mit.edu 37 2 160604933 160604933 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:160604933G>C ENST00000259050.3 + 5 1254 c.1132G>C c.(1132-1134)Gaa>Caa p.E378Q MARCH7_ENST00000409591.1_Missense_Mutation_p.E340Q|MARCH7_ENST00000539065.1_Missense_Mutation_p.E322Q|MARCH7_ENST00000409175.1_Missense_Mutation_p.E378Q NM_022826.2 NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase 378 Ser-rich. ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 CCAAGAATCTGAAGGTAGAAA 0.408000 8 117 0 0 1 0 0 TCTN1 79600 broad.mit.edu 37 12 111085594 111085594 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr12:111085594C>T ENST00000551590.1 + 14 1817 c.1661C>T c.(1660-1662)gCg>gTg p.A554V TCTN1_ENST00000397659.4_Missense_Mutation_p.A559V|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_3'UTR|TCTN1_ENST00000397655.3_Missense_Mutation_p.A540V Q2MV58 TECT1_HUMAN tectonic family member 1 554 multicellular organismal development extracellular region NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1) 15 ATTTCCACTGCGGTTACTTTT 0.493000 14 30 0 0 1 0 0 TMTC2 160335 broad.mit.edu 37 12 83360728 83360728 + Nonsense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr12:83360728C>T ENST00000549919.1 + 8 3687 c.1882C>T c.(1882-1884)Cag>Tag p.Q628* TMTC2_ENST00000321196.3_Nonsense_Mutation_p.Q634* Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 634 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 GGAAGCAATTCAGAAAATGCC 0.343000 4 39 0 0 1 0 0 GCOM1 145781 broad.mit.edu 37 15 57924701 57924701 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr15:57924701G>C ENST00000574161.1 + 7 867 c.748G>C c.(748-750)Gag>Cag p.E250Q GCOM1_ENST00000396180.1_Missense_Mutation_p.E219Q|GCOM1_ENST00000380560.2_Missense_Mutation_p.E181Q|GCOM1_ENST00000380568.3_Missense_Mutation_p.E250Q|GCOM1_ENST00000572390.1_Missense_Mutation_p.E250Q|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000380565.4_Missense_Mutation_p.E250Q|GCOM1_ENST00000380561.2_Missense_Mutation_p.E219Q|GCOM1_ENST00000380569.2_Missense_Mutation_p.E250Q|MYZAP_ENST00000267853.5_Missense_Mutation_p.E250Q|GCOM1_ENST00000587652.1_Missense_Mutation_p.E250Q NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 250 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 CAGCCAGTATGAGGAGAAGCT 0.493000 6 66 0 0 1 0 0 RPL10L 140801 broad.mit.edu 37 14 47120595 47120595 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr14:47120595C>T ENST00000298283.3 - 1 433 c.345G>A c.(343-345)atG>atA p.M115I NM_080746.2 NP_542784.1 Q96L21 RL10L_HUMAN ribosomal protein L10-like 115 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 AGGCACCTCGCATACCTGTCT 0.552000 16 44 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111368447 111368447 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr7:111368447C>T ENST00000428084.1 - 53 6083 c.5811G>A c.(5809-5811)ccG>ccA p.P1937P DOCK4_ENST00000437633.1_Silent_p.P1928P|DOCK4_ENST00000494651.2_Silent_p.P811P Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1928 Pro-rich. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) GCAGCGCGGGCGGCTCCGACG 0.736000 4 37 0 0 1 0 0 NOX3 50508 broad.mit.edu 37 6 155750022 155750022 + Missense_Mutation SNP C C T rs149980019 TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr6:155750022C>T ENST00000159060.2 - 9 1153 c.1051G>A c.(1051-1053)Gtg>Atg p.V351M NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 351 FAD-binding FR-type. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding p.V351M(1) cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGGATGTGCACGCTGAAAAAG 0.637000 4 65 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196729578 196729578 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:196729578G>C ENST00000312428.6 - 41 6901 c.6801C>G c.(6799-6801)agC>agG p.S2267R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2267 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AAAACATTAAGCTGCGTAAGT 0.373000 5 113 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129794839 129794839 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr11:129794839G>C ENST00000358825.5 - 13 2059 c.1828C>G c.(1828-1830)Cat>Gat p.H610D PRDM10_ENST00000528746.1_Missense_Mutation_p.H580D|PRDM10_ENST00000423662.2_Missense_Mutation_p.H524D|PRDM10_ENST00000360871.3_Missense_Mutation_p.H606D|PRDM10_ENST00000526082.1_Missense_Mutation_p.H524D|PRDM10_ENST00000304538.6_Missense_Mutation_p.H520D NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 610 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) TCATTGATATGAATGGCCACA 0.448000 13 110 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33960785 33960785 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:33960785C>T ENST00000361328.3 + 8 2994 c.2841C>T c.(2839-2841)atC>atT p.I947I NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 947 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCAAGCTCATCACACACCAGA 0.527000 4 50 0 0 1 0 0 ROR1 4919 broad.mit.edu 37 1 64643788 64643788 + Missense_Mutation SNP T T G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:64643788T>G ENST00000371079.1 + 9 2439 c.2064T>G c.(2062-2064)ttT>ttG p.F688L ROR1_ENST00000545203.1_Missense_Mutation_p.F139L NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 688 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 TTTTCAGTTTTGGACTCCAGC 0.468000 4 62 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60886035 60886035 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr20:60886035C>G ENST00000252999.3 - 74 10270 c.10204G>C c.(10204-10206)Gtt>Ctt p.V3402L NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 3402 Laminin G-like 4. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATCTGTGCAACGAAGTGGCCA 0.697000 3 36 0 0 1 0 0 SC5D 6309 broad.mit.edu 37 11 121178165 121178165 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr11:121178165G>C ENST00000264027.4 + 5 1218 c.844G>C c.(844-846)Gga>Cga p.G282R SC5D_ENST00000534230.1_Splice_Site|SC5D_ENST00000392789.2_Missense_Mutation_p.G282R NM_006918.4 NP_008849.2 sterol-C5-desaturase CAGCCATTCAGGAAATGGCTG 0.403000 5 59 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60802416 60802416 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr17:60802416G>C ENST00000544856.2 - 8 2362 c.1984C>G c.(1984-1986)Cag>Gag p.Q662E MARCH10_ENST00000311269.5_Missense_Mutation_p.Q663E|MARCH10_ENST00000456609.2_Missense_Mutation_p.Q663E|RP11-156L14.1_ENST00000584597.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.Q701E|RP11-156L14.1_ENST00000582564.1_RNA|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 663 ligase activity|zinc ion binding p.Q663E(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 CCGGCTATCTGACAGATGCGA 0.552000 4 64 0 0 1 0 0 TMTC3 160418 broad.mit.edu 37 12 88584324 88584324 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr12:88584324G>A ENST00000266712.6 + 12 1851 c.1631G>A c.(1630-1632)cGa>cAa p.R544Q NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 544 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 AATGAGTCCCGACTGGAAGAA 0.433000 6 50 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34209162 34209162 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:34209162G>C ENST00000373381.4 - 14 2068 c.1892C>G c.(1891-1893)tCt>tGt p.S631C NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 591 CUB 4. integral to membrane|plasma membrane protein binding p.S591Y(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTAGTTGGGAGACAGGACAAC 0.572000 8 60 0 0 1 0 0 HAUS3 79441 broad.mit.edu 37 4 2240603 2240603 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr4:2240603C>T ENST00000243706.4 - 3 1306 c.1077G>A c.(1075-1077)caG>caA p.Q359Q POLN_ENST00000515357.1_Intron|POLN_ENST00000511885.2_Intron|HAUS3_ENST00000506763.1_Silent_p.Q359Q|HAUS3_ENST00000443786.2_Silent_p.Q359Q NM_024511.5 NP_078787.2 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 359 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GTTTAGCAATCTGCAGATCAA 0.328000 13 87 0 0 1 0 0 CYC1 1537 broad.mit.edu 37 8 145151588 145151588 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr8:145151588C>T ENST00000318911.4 + 5 786 c.713C>T c.(712-714)cCt>cTt p.P238L NM_001916.3 NP_001907.2 P08574 CY1_HUMAN cytochrome c-1 238 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCTACTTTCCTGGCCAGGCC 0.572000 6 73 0 0 1 0 0 FCHSD2 9873 broad.mit.edu 37 11 72553832 72553832 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr11:72553832G>C ENST00000409314.1 - 18 2000 c.1832C>G c.(1831-1833)tCt>tGt p.S611C ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000409418.4_Missense_Mutation_p.S587C|FCHSD2_ENST00000311172.7_Missense_Mutation_p.S531C|FCHSD2_ENST00000409263.1_Intron|FCHSD2_ENST00000458644.2_Missense_Mutation_p.S451C O94868 FCSD2_HUMAN FCH and double SH3 domains 2 587 SH3 2. protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) CTCAGGAAAAGATAACTCATC 0.403000 5 67 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262532 45262532 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr5:45262532G>C ENST00000303230.4 - 8 2221 c.2164C>G c.(2164-2166)Ccc>Gcc p.P722A NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 722 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.P722S(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GAGGCGGTGGGGGAGGCATAG 0.662000 7 37 0 0 1 0 0 GRHL1 29841 broad.mit.edu 37 2 10101374 10101374 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:10101374G>C ENST00000324907.9 + 4 614 c.478G>C c.(478-480)Gaa>Caa p.E160Q GRHL1_ENST00000324883.5_5'UTR|GRHL1_ENST00000405379.2_Missense_Mutation_p.E160Q NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 160 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) CATCAAGACAGAAACCCAGCC 0.537000 4 87 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 79971609 79971609 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:79971609G>A ENST00000466387.1 + 7 923 c.199G>A c.(199-201)Gcc>Acc p.A67T CTNNA2_ENST00000540488.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A67T|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A67T|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A101T|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A67T P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 67 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 TGTAGAGCAAGCCACTCAGAA 0.468000 6 35 0 0 1 0 0 ABHD15 116236 broad.mit.edu 37 17 27889898 27889898 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr17:27889898C>G ENST00000307201.4 - 2 1258 c.1088G>C c.(1087-1089)tGt>tCt p.C363S RP11-68I3.2_ENST00000581474.1_RNA NM_198147.2 NP_937790.2 Q6UXT9 ABH15_HUMAN abhydrolase domain containing 15 363 extracellular region carboxylesterase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 10 TGGGGGTCCACACACGGGGTC 0.612000 6 70 0 0 1 0 0 FOLR4 390243 broad.mit.edu 37 11 94040666 94040666 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr11:94040666G>C ENST00000440961.2 + 4 584 c.540G>C c.(538-540)gaG>gaC p.E180D NM_001199206.1 NP_001186135.1 A6ND01 FOLR4_HUMAN folate receptor 4, delta (putative) 187 extracellular region folic acid binding|receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 ACCTGTGTGAGAAGACTTGGA 0.602000 4 80 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118534050 118534050 + Silent SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:118534050G>C ENST00000336338.5 - 37 5528 c.5463C>G c.(5461-5463)ctC>ctG p.L1821L NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1821 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TAACCAGCTTGAGGAGATCAG 0.363000 3 30 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 181757 181757 + Missense_Mutation SNP G G T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr5:181757G>T ENST00000283426.6 + 17 3513 c.3463G>T c.(3463-3465)Gac>Tac p.D1155Y NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 1155 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AGTGATGAGCGACCGAGTCCC 0.617000 8 83 1.12685e-05 1.22464e-05 1 1 0 FAT1 2195 broad.mit.edu 37 4 187630870 187630870 + Nonsense_Mutation SNP C C A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr4:187630870C>A ENST00000441802.2 - 2 321 c.112G>T c.(112-114)Gag>Tag p.E38* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 38 Cadherin 1. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ACGTTGTACTCGAGGTGTGTA 0.493000 HNSCC(5;0.00058) 5 14 1.23904e-05 1.34102e-05 1 1 0 PDE8B 8622 broad.mit.edu 37 5 76649232 76649232 + Splice_Site SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr5:76649232G>C ENST00000264917.5 + 10 1212 c.e10+1 PDE8B_ENST00000333194.4_Splice_Site|PDE8B_ENST00000342343.4_Splice_Site|PDE8B_ENST00000340978.3_Splice_Site|PDE8B_ENST00000346042.3_Intron NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) TAATAAGCAGGTATGGTATTA 0.398000 3 35 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 56993873 56993873 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr12:56993873C>G ENST00000179765.5 - 26 5009 c.4810G>C c.(4810-4812)Gag>Cag p.E1604Q BAZ2A_ENST00000549884.1_Missense_Mutation_p.E1634Q|BAZ2A_ENST00000379441.3_Missense_Mutation_p.E1606Q|BAZ2A_ENST00000551812.1_Missense_Mutation_p.E1636Q Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 1636 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 GGGGTGATCTCATATGATCTG 0.577000 9 97 0 0 1 0 0 LSMEM1 286006 broad.mit.edu 37 7 112124917 112124917 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr7:112124917G>C ENST00000312849.4 + 2 407 c.46G>C c.(46-48)Gat>Cat p.D16H LSMEM1_ENST00000439068.2_Missense_Mutation_p.D16H|LSMEM1_ENST00000429049.1_Missense_Mutation_p.D16H NM_182597.2 NP_872403.1 leucine-rich single-pass membrane protein 1 CATTCAGGAAGATGGAAAGCT 0.453000 8 89 0 0 1 0 0 PARP2 10038 broad.mit.edu 37 14 20824776 20824776 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr14:20824776G>A ENST00000527915.1 + 13 1301 c.1296G>A c.(1294-1296)atG>atA p.M432I PARP2_ENST00000429687.3_Missense_Mutation_p.M419I|PARP2_ENST00000250416.5_Missense_Mutation_p.M432I Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase 2 432 PARP catalytic. protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 15 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) GTTCCAGGATGAGTAACTGGG 0.468000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 14 188 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98173032 98173032 + Missense_Mutation SNP T T A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr10:98173032T>A ENST00000357947.3 - 8 1190 c.965A>T c.(964-966)aAt>aTt p.N322I TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 322 Metalloprotease (By similarity). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CCTGACGCCATTGTCATCTTG 0.522000 10 31 0 0 1 0 0 NOC3L 64318 broad.mit.edu 37 10 96116974 96116974 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr10:96116974G>C ENST00000371361.3 - 4 565 c.465C>G c.(463-465)atC>atG p.I155M NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.I155M NM_022451.9 NP_071896.8 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog (S. cerevisiae) 155 nuclear speck|nucleolus binding endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1) 29 Colorectal(252;0.0897) TTTTATCTTTGATAGGAAGTA 0.368000 5 65 0 0 1 0 0 PNPLA8 50640 broad.mit.edu 37 7 108113089 108113089 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr7:108113089G>C ENST00000426128.2 - 10 2044 c.1919C>G c.(1918-1920)cCt>cGt p.P640R PNPLA8_ENST00000422087.1_Missense_Mutation_p.P702R|PNPLA8_ENST00000453144.1_Missense_Mutation_p.P602R|PNPLA8_ENST00000257694.8_Missense_Mutation_p.P702R|PNPLA8_ENST00000388728.5_Missense_Mutation_p.P640R|PNPLA8_ENST00000436062.1_Missense_Mutation_p.P702R NM_001256009.1 NP_001242938.1 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 702 Patatin. fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3) 29 GGTGTCAGGAGGTAACAGGCC 0.383000 5 48 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101347136 101347136 + Missense_Mutation SNP G G T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr11:101347136G>T ENST00000344327.3 - 6 2064 c.1640C>A c.(1639-1641)gCa>gAa p.A547E TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000348423.4_Missense_Mutation_p.A431E|TRPC6_ENST00000360497.4_Missense_Mutation_p.A492E NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 547 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) ATGCCAAAATGCCATGAATCT 0.408000 4 71 0.00909568 0.00930803 1 1 0 EML5 161436 broad.mit.edu 37 14 89093259 89093259 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr14:89093259G>C ENST00000554922.1 - 35 4911 c.4663C>G c.(4663-4665)Ctt>Gtt p.L1555V EML5_ENST00000553320.1_5'UTR|EML5_ENST00000380664.5_Missense_Mutation_p.L1547V|EML5_ENST00000352093.5_Missense_Mutation_p.L1509V NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1547 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TTGCTAAGAAGAGCTCTTCCT 0.458000 4 76 0 0 1 0 0 RPS15A 6210 broad.mit.edu 37 16 18796121 18796121 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr16:18796121C>T ENST00000322989.4 - 4 333 c.238G>A c.(238-240)Gac>Aac p.D80N RPS15A_ENST00000565420.1_Missense_Mutation_p.D80N|RPS15A_ENST00000575669.1_5'UTR|RPS15A_ENST00000569083.1_Missense_Mutation_p.D80N|RPS15A_ENST00000563390.1_Missense_Mutation_p.D80N|RPS15A_ENST00000576436.1_Silent_p.*112* NM_001019.4 NP_001010.2 P62244 RS15A_HUMAN ribosomal protein S15a 80 endocrine pancreas development|positive regulation of cell cycle|positive regulation of cell proliferation|response to virus|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|RNA binding|structural constituent of ribosome endometrium(1)|large_intestine(1) 2 AGTTGCACGTCAAATCTGGGG 0.378000 16 85 0 0 1 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100551501 100551501 + RNA SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr12:100551501G>C ENST00000397112.4 - 0 1697 NR_036632.1 large_intestine(1)|lung(3) 4 AGCTACAGCTGAGTTGAAAAA 0.607000 4 29 0 0 1 0 0 GPSM3 63940 broad.mit.edu 37 6 32160012 32160012 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr6:32160012C>T ENST00000375040.3 - 2 450 c.58G>A c.(58-60)Gag>Aag p.E20K GPSM3_ENST00000487761.1_Missense_Mutation_p.E17K|GPSM3_ENST00000375043.3_Missense_Mutation_p.E20K NM_001276501.1 NP_001263430.1 Q9Y4H4 GPSM3_HUMAN G-protein signaling modulator 3 20 Pro-rich. signal transduction cytoplasm GTPase activator activity|protein binding large_intestine(1) 1 CAGCCTTCCTCATCCTGAGGG 0.622000 4 30 0 0 1 0 0 NFRKB 4798 broad.mit.edu 37 11 129739840 129739840 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr11:129739840C>G ENST00000446488.3 - 23 3183 c.3080G>C c.(3079-3081)aGt>aCt p.S1027T NFRKB_ENST00000524746.1_Missense_Mutation_p.S1027T|NFRKB_ENST00000304521.5_Missense_Mutation_p.S1027T|NFRKB_ENST00000524794.1_Missense_Mutation_p.S1052T NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 1027 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) ACTGGCTGAACTGGCCTTGGC 0.542000 6 87 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53025818 53025818 + Silent SNP G G T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr8:53025818G>T ENST00000276480.7 - 26 3767 c.3084C>A c.(3082-3084)tcC>tcA p.S1028S NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 1028 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGCATTCCGGGGAATAGTCCC 0.453000 13 48 7.93312e-07 8.69338e-07 1 1 0 PCDHA5 56143 broad.mit.edu 37 5 140203449 140203449 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr5:140203449G>A ENST00000529859.1 + 1 2089 c.2089G>A c.(2089-2091)Gtg>Atg p.V697M PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.V697M|PCDHA5_ENST00000529619.1_Missense_Mutation_p.V697M|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_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) GGATGTCAACGTGTACCTGAT 0.687000 16 67 0 0 1 0 0 PTDSS1 9791 broad.mit.edu 37 8 97311987 97311987 + Silent SNP C C A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr8:97311987C>A ENST00000517309.1 + 6 992 c.666C>A c.(664-666)atC>atA p.I222I PTDSS1_ENST00000522072.1_Silent_p.I19I|PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000455950.2_Silent_p.I76I NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 222 phosphatidylserine biosynthetic process integral to membrane transferase activity endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) TTCTGGACATCCTGTTGTGCA 0.493000 7 133 0.248553 0.249501 1 1 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 4 33 0 0 1 0 0 FILIP1L 11259 broad.mit.edu 37 3 99568154 99568154 + Missense_Mutation SNP C C A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr3:99568154C>A ENST00000331335.5 - 5 2836 c.2366G>T c.(2365-2367)aGa>aTa p.R789I FILIP1L_ENST00000354552.3_Missense_Mutation_p.R789I|FILIP1L_ENST00000383694.2_Missense_Mutation_p.R549I|FILIP1L_ENST00000471562.1_Missense_Mutation_p.R549I|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.R365I NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 789 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 ATCGGAAATTCTTCTTCCATT 0.433000 6 139 3.59834e-05 3.847e-05 1 1 0 PTTG1IP 754 broad.mit.edu 37 21 46281125 46281125 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr21:46281125G>A ENST00000330938.3 - 3 450 c.230C>T c.(229-231)cCg>cTg p.P77L PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_Missense_Mutation_p.P56L|PTTG1IP_ENST00000397887.3_Missense_Mutation_p.P77L|PTTG1IP_ENST00000494690.1_5'UTR NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 77 PSI. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) AAGGGAAGCCGGTGGCAAGAC 0.433000 8 43 0 0 1 0 0 IKBKAP 8518 broad.mit.edu 37 9 111665181 111665181 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr9:111665181C>T ENST00000374647.5 - 16 2099 c.1792G>A c.(1792-1794)Gga>Aga p.G598R IKBKAP_ENST00000537196.1_Missense_Mutation_p.G249R NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 598 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 ACAGGAAATCCACCAGAGTTC 0.438000 4 48 0 0 1 0 0 ZAP70 7535 broad.mit.edu 37 2 98354246 98354246 + Silent SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:98354246C>G ENST00000264972.5 + 12 1724 c.1509C>G c.(1507-1509)ctC>ctG p.L503L ZAP70_ENST00000451498.2_Silent_p.L196L|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Silent_p.L377L NM_001079.3 NP_001070.2 P43403 ZAP70_HUMAN zeta-chain (TCR) associated protein kinase 70kDa 503 Protein kinase. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 29 AGTGGCCGCTCAAGTGGTACG 0.637000 6 123 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173931010 173931010 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:173931010C>G ENST00000367696.2 - 12 2406 c.2055G>C c.(2053-2055)gaG>gaC p.E685D RC3H1_ENST00000367694.2_Missense_Mutation_p.E685D|RC3H1_ENST00000258349.4_Missense_Mutation_p.E685D Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 685 Pro-rich. cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 CTCGGAATATCTCTTCTCTTG 0.478000 10 178 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122033559 122033559 + Missense_Mutation SNP T T G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr7:122033559T>G ENST00000334010.7 - 19 3239 c.2818A>C c.(2818-2820)Atg>Ctg p.M940L CADPS2_ENST00000313070.7_Missense_Mutation_p.M936L|CADPS2_ENST00000412584.2_Missense_Mutation_p.M936L|CADPS2_ENST00000449022.2_Missense_Mutation_p.M942L|RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 942 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 GAAGACTCCATGAGATCCACA 0.458000 25 64 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49957773 49957773 + Nonsense_Mutation SNP C C A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chrX:49957773C>A ENST00000376056.2 - 5 1714 c.1564G>T c.(1564-1566)Gaa>Taa p.E522* AKAP4_ENST00000376064.3_Nonsense_Mutation_p.E522*|AKAP4_ENST00000358526.2_Nonsense_Mutation_p.E531*|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000481402.1_5'UTR Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 531 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) TTGATCTTTTCTCCTTTCTCA 0.463000 7 58 8.12818e-05 8.58519e-05 1 1 0 OR5AK2 390181 broad.mit.edu 37 11 56756711 56756711 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr11:56756711C>G ENST00000326855.2 + 1 365 c.323C>G c.(322-324)gCa>gGa p.A108G NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 GCAACATTTGCAACCAGTGAC 0.423000 11 74 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108604727 108604727 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:108604727G>A ENST00000264047.2 + 2 392 c.116G>A c.(115-117)aGc>aAc p.S39N SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.S39N NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 39 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) GAAGAGCGCAGCGAAGCCATC 0.507000 4 72 0 0 1 0 0 REXO1 57455 broad.mit.edu 37 19 1827499 1827499 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr19:1827499G>A ENST00000170168.4 - 2 1383 c.1289C>T c.(1288-1290)cCg>cTg p.P430L NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 430 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTCCCTTCCGGCCGCTCTGC 0.706000 6 29 0 0 1 0 0 TAZ 6901 broad.mit.edu 37 X 153648522 153648522 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chrX:153648522C>T ENST00000369776.4 + 5 613 c.528C>T c.(526-528)caC>caT p.H176H TAZ_ENST00000351413.4_Intron|TAZ_ENST00000369790.4_Intron|TAZ_ENST00000299328.5_Intron|TAZ_ENST00000350743.4_Intron|TAZ_ENST00000498029.1_Intron Q16635 TAZ_HUMAN tafazzin 215 Hydrophilic. cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity lung(1) 1 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTCCACCCCACGTCTGGCCTT 0.642000 10 92 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75037532 75037532 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:75037532C>T ENST00000326665.5 - 14 4080 c.3862G>A c.(3862-3864)Gaa>Aaa p.E1288K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1288 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 TCCACCGCTTCCTCCCTGAAC 0.567000 5 126 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1651988 1651988 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:1651988C>T ENST00000252804.4 - 17 3614 c.3564G>A c.(3562-3564)ctG>ctA p.L1188L NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 1188 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TCTCATTTTTCAGGTCCTCGA 0.562000 7 143 0 0 1 0 0 FBXL20 84961 broad.mit.edu 37 17 37499496 37499496 + Splice_Site SNP T T C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr17:37499496T>C ENST00000264658.6 - 2 303 c.e2-2 FBXL20_ENST00000577399.1_Splice_Site|FBXL20_ENST00000394294.3_Splice_Site|FBXL20_ENST00000583610.1_Splice_Site NM_032875.2 NP_116264.2 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 cytoplasm breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 LUAD - Lung adenocarcinoma(14;0.146) TGAGAACATCTGCAAAAACAA 0.308000 6 26 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111408321 111408321 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:111408321G>C ENST00000535254.1 - 17 2012 c.1945C>G c.(1945-1947)Cac>Gac p.H649D BUB1_ENST00000302759.6_Missense_Mutation_p.H669D|BUB1_ENST00000409311.1_Missense_Mutation_p.H669D NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 669 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) GAATACATGTGAGACGACAAG 0.473000 5 38 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33960364 33960364 + Nonsense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:33960364C>G ENST00000361328.3 + 8 2573 c.2420C>G c.(2419-2421)tCa>tGa p.S807* NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 807 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AACCAGAGCTCAAACCTTCTG 0.458000 13 140 0 0 1 0 0 BTN2A1 11120 broad.mit.edu 37 6 26468373 26468373 + Missense_Mutation SNP A A G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr6:26468373A>G ENST00000312541.5 + 8 1428 c.1180A>G c.(1180-1182)Aac>Gac p.N394D BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000541522.1_Missense_Mutation_p.N333D|BTN2A1_ENST00000469185.1_Intron NM_007049.3|NM_078476.2 NP_008980.1|NP_510961.1 Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 394 B30.2/SPRY. lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 GGAGGTGGAAAACGTGATTGA 0.547000 6 97 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1677575 1677575 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:1677575C>T ENST00000252804.4 - 9 908 c.858G>A c.(856-858)ctG>ctA p.L286L PXDN_ENST00000483018.1_5'UTR NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 286 Ig-like C2-type 1. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TCTTCATGCTCAGCTCATTAC 0.512000 4 64 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282185 152282185 + Nonsense_Mutation SNP G G T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:152282185G>T ENST00000368799.1 - 3 5212 c.5177C>A c.(5176-5178)tCa>tAa p.S1726* FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1726 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) TGACTCTTCTGAGTGTCCCTC 0.592000 Ichthyosis 76 224 5.96624e-29 6.79274e-29 1 1 0 CUL4A 8451 broad.mit.edu 37 13 113893751 113893751 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr13:113893751C>T ENST00000451881.1 + 10 870 c.621C>T c.(619-621)ctC>ctT p.L207L CUL4A_ENST00000375440.4_Silent_p.L307L|CUL4A_ENST00000326335.4_Silent_p.L207L|CUL4A_ENST00000375441.3_Silent_p.L207L NM_001278513.1|NM_003589.2 NP_001265442.1|NP_003580.1 Q13619 CUL4A_HUMAN cullin 4A 307 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1) 17 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) TCTCAGGGCTCGACCACTTAC 0.557000 5 63 0 0 1 0 0 CCDC173 129881 broad.mit.edu 37 2 170505760 170505760 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:170505760C>T ENST00000447353.1 - 8 1354 c.1249G>A c.(1249-1251)Gaa>Aaa p.E417K NM_001085447.1 NP_001078916.1 coiled-coil domain containing 173 p.E411K(1) TTCTCCTTTTCATGTTCCCAG 0.333000 10 41 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140281940 140281940 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr3:140281940G>C ENST00000458420.3 + 15 2567 c.2377G>C c.(2377-2379)Gac>Cac p.D793H NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 793 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CCTTCATGAAGACCAAGTCTC 0.522000 HNSCC(16;0.037) 13 108 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193201786 193201786 + Silent SNP T T A rs149388699 TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr3:193201786T>A ENST00000342695.4 - 8 1069 c.747A>T c.(745-747)gtA>gtT p.V249V ATP13A4_ENST00000295548.3_Silent_p.V249V|ATP13A4_ENST00000392443.3_Silent_p.V249V NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 249 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GGTGGAGTTTTACAGATTGCT 0.353000 5 129 0 0 1 0 0 ZNF23 7571 broad.mit.edu 37 16 71483713 71483713 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr16:71483713C>G ENST00000393539.2 - 6 1028 c.215G>C c.(214-216)aGa>aCa p.R72T ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.R72T|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.R72T|ZNF23_ENST00000497160.1_3'UTR|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000428724.2_Missense_Mutation_p.R14T|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.R14T NM_145911.1 NP_666016.1 P17027 ZNF23_HUMAN zinc finger protein 23 72 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1) 29 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) GGAAAAGTCTCTTTGAAGTTC 0.348000 10 73 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33960848 33960848 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:33960848C>T ENST00000361328.3 + 8 3057 c.2904C>T c.(2902-2904)ttC>ttT p.F968F NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 968 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GAAAATTCTTCCGTGACCGTT 0.498000 4 39 0 0 1 0 0 CYP1B1 1545 broad.mit.edu 37 2 38297968 38297968 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:38297968G>A ENST00000260630.3 - 3 1930 c.1529C>T c.(1528-1530)aCc>aTc p.T510I CYP1B1_ENST00000407341.1_Missense_Mutation_p.T510I|CYP1B1_ENST00000494864.1_5'UTR NM_000104.3 NP_000095.2 Q16678 CP1B1_HUMAN cytochrome P450, family 1, subfamily B, polypeptide 1 510 visual perception|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 13 all_hematologic(82;0.21) Estrone(DB00655) GGGTTTAATGGTTAGACCATA 0.433000 13 79 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578268 7578268 + Missense_Mutation SNP A A C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr17:7578268A>C ENST00000420246.2 - 6 713 c.581T>G c.(580-582)cTt>cGt p.L194R TP53_ENST00000359597.4_Missense_Mutation_p.L194R|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000269305.4_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 194 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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) CACTCGGATAAGATGCTGAGG 0.552000 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) 20 17 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85742694 85742694 + Silent SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr4:85742694C>G ENST00000322366.6 - 11 1541 c.1134G>C c.(1132-1134)gtG>gtC p.V378V WDFY3_ENST00000295888.4_Silent_p.V378V Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 378 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GGACGTTTCTCACACTGTGAC 0.338000 5 71 0 0 1 0 0 ADGRG6 57211 broad.mit.edu 37 6 142741141 142741141 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr6:142741141G>C ENST00000230173.6 + 22 3695 c.3219G>C c.(3217-3219)ttG>ttC p.L1073F GPR126_ENST00000367609.3_Missense_Mutation_p.L1073F|GPR126_ENST00000367608.2_Missense_Mutation_p.L1045F|GPR126_ENST00000296932.8_Missense_Mutation_p.L1045F NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 1073 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) TGGTTAGCTTGACCTTTCTGT 0.473000 8 126 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123725945 123725945 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr9:123725945C>T ENST00000223642.1 - 34 4321 c.4292G>A c.(4291-4293)gGa>gAa p.G1431E NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 1431 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) TGCACTGATTCCAGTAGGCAA 0.353000 11 38 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170031721 170031721 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:170031721C>T ENST00000263816.3 - 55 11035 c.10750G>A c.(10750-10752)Gaa>Aaa p.E3584K NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3584 LDL-receptor class A 27. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGACGGTCTTCATCAGACCCA 0.483000 4 55 0 0 1 0 0 OR1A2 26189 broad.mit.edu 37 17 3101498 3101498 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr17:3101498C>T ENST00000381951.1 + 1 686 c.686C>T c.(685-687)tCt>tTt p.S229F NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 CAAGTTCCATCTACCAAGAGT 0.448000 9 151 0 0 1 0 0 SQRDL 58472 broad.mit.edu 37 15 45974742 45974742 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr15:45974742G>C ENST00000260324.7 + 7 1317 c.931G>C c.(931-933)Gat>Cat p.D311H SQRDL_ENST00000568606.1_Missense_Mutation_p.D311H NM_021199.2 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 311 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) TCCTGTGGCTGATGCTGCTGG 0.468000 6 49 0 0 1 0 0 SUZ12P1 440423 broad.mit.edu 37 17 29061941 29061941 + RNA SNP T T C rs112064181 by1000genomes TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr17:29061941T>C ENST00000582557.1 + 0 861 TAGATTTCTTTGAACTCGGAA 0.303000 5 59 0 0 1 0 0 PAPSS2 9060 broad.mit.edu 37 10 89501080 89501080 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr10:89501080G>A ENST00000361175.4 + 9 1529 c.1160G>A c.(1159-1161)cGt>cAt p.R387H PAPSS2_ENST00000427144.2_Missense_Mutation_p.R391H|PAPSS2_ENST00000456849.1_Missense_Mutation_p.R392H NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 387 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) GACCAATACCGTCTGACACCT 0.413000 4 60 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509542 106509542 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr7:106509542C>G ENST00000359195.3 + 2 1846 c.1536C>G c.(1534-1536)aaC>aaG p.N512K PIK3CG_ENST00000496166.1_Missense_Mutation_p.N512K|PIK3CG_ENST00000440650.2_Missense_Mutation_p.N512K NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 512 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 ACAAGGAGAACTCAATGTCCA 0.532000 4 90 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66945151 66945151 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr16:66945151C>T ENST00000299752.4 - 14 2051 c.1858G>A c.(1858-1860)Gcc>Acc p.A620T CDH16_ENST00000394055.3_Missense_Mutation_p.A620T|CDH16_ENST00000568632.1_Missense_Mutation_p.A523T|CDH16_ENST00000565796.1_Missense_Mutation_p.A620T|CDH16_ENST00000570262.1_Missense_Mutation_p.A540T NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 620 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) AGGGACTGGGCGGTGTGCACC 0.627000 3 25 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73904786 73904786 + Missense_Mutation SNP G G T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr6:73904786G>T ENST00000342056.2 + 15 2903 c.2505G>T c.(2503-2505)ttG>ttT p.L835F KCNQ5_ENST00000370398.1_Missense_Mutation_p.L816F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L817F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L826F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L816F|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L706F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L807F NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 816 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) AAACTCTGTTGTCTGTCTGTC 0.478000 5 72 0.184627 0.186042 1 1 0 PPAPDC3 84814 broad.mit.edu 37 9 134165696 134165696 + Silent SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr9:134165696G>A ENST00000372264.3 + 1 616 c.312G>A c.(310-312)gcG>gcA p.A104A PPAPDC3_ENST00000372261.1_Silent_p.A104A NM_032728.3 NP_116117.3 Q8NBV4 PPAC3_HUMAN phosphatidic acid phosphatase type 2 domain containing 3 104 endoplasmic reticulum membrane|integral to membrane|nuclear envelope hydrolase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_hematologic(7;0.0119) OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173) GCCGGGCGGCGTCCTGGGCCA 0.647000 12 65 0 0 1 0 0 LCLAT1 253558 broad.mit.edu 37 2 30863480 30863480 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:30863480G>C ENST00000309052.4 + 7 1449 c.1240G>C c.(1240-1242)Gag>Cag p.E414Q LCLAT1_ENST00000379509.3_Missense_Mutation_p.E376Q|LCLAT1_ENST00000540623.1_Missense_Mutation_p.E376Q|LCLAT1_ENST00000491680.2_3'UTR NM_182551.3 NP_872357.2 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 414 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 AAAGAAAAATGAGTAAGATTA 0.353000 4 53 0 0 1 0 0 FAR2P3 100288897 broad.mit.edu 37 2 131459980 131459980 + RNA SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:131459980G>A ENST00000425151.1 + 0 507 TTCTATCTGTGGCTCATTGGA 0.498000 3 2 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 4 37 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111695502 111695502 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr6:111695502C>T ENST00000435970.1 - 15 4638 c.3822G>A c.(3820-3822)acG>acA p.T1274T REV3L_ENST00000368802.3_Silent_p.T1352T|REV3L_ENST00000368805.1_Silent_p.T1352T|REV3L_ENST00000358835.3_Silent_p.T1352T O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1352 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TTTGAATTAACGTTGATTCCT 0.323000 DNA polymerases (catalytic subunits) 14 74 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33879620 33879620 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr20:33879620C>T ENST00000374408.3 - 1 584 c.488G>A c.(487-489)cGc>cAc p.R163H NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 163 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GAAAAGGAAGCGCAGCAGGTC 0.612000 16 93 0 0 1 0 0 FAM111A 63901 broad.mit.edu 37 11 58920123 58920123 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr11:58920123G>C ENST00000528737.1 + 5 3800 c.982G>C c.(982-984)Gaa>Caa p.E328Q FAM111A_ENST00000420244.1_Missense_Mutation_p.E328Q|FAM111A_ENST00000533703.1_Missense_Mutation_p.E328Q|FAM111A_ENST00000531147.1_Missense_Mutation_p.E328Q|FAM111A_ENST00000361723.3_Missense_Mutation_p.E328Q Q96PZ2 F111A_HUMAN family with sequence similarity 111, member A 328 proteolysis serine-type endopeptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_epithelial(135;0.139) AACATTATTTGAATTGCATAG 0.323000 7 56 0 0 1 0 0 IFNL3 282617 broad.mit.edu 37 19 39734514 39734514 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr19:39734514G>A ENST00000413851.2 - 4 480 c.442C>T c.(442-444)Cgg>Tgg p.R148W NM_172139.2 NP_742151.2 interferon, lambda 3 AGGCGGCCCCGGGTCCTGGGC 0.692000 6 70 0 0 1 0 0 LIN7B 64130 broad.mit.edu 37 19 49619650 49619650 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr19:49619650C>T ENST00000221459.2 + 4 403 c.359C>T c.(358-360)tCc>tTc p.S120F LIN7B_ENST00000391864.3_Intron NM_022165.2 NP_071448.1 Q9HAP6 LIN7B_HUMAN lin-7 homolog B (C. elegans) 120 PDZ. exocytosis|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein domain specific binding central_nervous_system(1)|endometrium(1)|prostate(1) 3 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;5e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000191)|GBM - Glioblastoma multiforme(486;0.00449)|Epithelial(262;0.01) ATCTACATCTCCCGGGTCATC 0.607000 22 26 0 0 1 0 0 BMPR2 659 broad.mit.edu 37 2 203383547 203383547 + Silent SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:203383547G>C ENST00000374580.4 + 6 1163 c.624G>C c.(622-624)ctG>ctC p.L208L BMPR2_ENST00000374574.2_Silent_p.L208L NM_001204.6 NP_001195.2 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor, type II (serine/threonine kinase) 208 Protein kinase. anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 42 ACTTGCAGCTGATTGGCCGAG 0.353000 5 53 0 0 1 0 0 APBB1 322 broad.mit.edu 37 11 6422225 6422225 + Missense_Mutation SNP G G A rs147235391 TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr11:6422225G>A ENST00000389906.2 - 11 1765 c.1666C>T c.(1666-1668)Cct>Tct p.P556S APBB1_ENST00000299402.6_Missense_Mutation_p.P554S|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.P554S|APBB1_ENST00000530885.1_Missense_Mutation_p.P334S NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 556 PID 2. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) ATACCAACAGGTTTAGCAACA 0.478000 15 192 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187004655 187004655 + Silent SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr4:187004655C>G ENST00000296795.2 + 4 1919 c.1815C>G c.(1813-1815)gtC>gtG p.V605V TLR3_ENST00000504367.1_Silent_p.V328V NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 605 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-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;0.0066)|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;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) CAGCATCTGTCTTTAATAATC 0.393000 4 66 0 0 1 0 0 OR2G6 391211 broad.mit.edu 37 1 248684949 248684949 + Translation_Start_Site SNP T T C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:248684949T>C ENST00000343414.4 + 1 34 c.2T>C c.(1-3)aTg>aCg p.M1T NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCAGGAAAAATGGAGGAAACC 0.398000 10 106 0 0 1 0 0 TRPS1 7227 broad.mit.edu 37 8 116616662 116616662 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr8:116616662C>G ENST00000395715.3 - 4 2111 c.1534G>C c.(1534-1536)Gac>Cac p.D512H TRPS1_ENST00000520276.1_Missense_Mutation_p.D503H|TRPS1_ENST00000220888.5_Missense_Mutation_p.D499H|TRPS1_ENST00000519674.1_Missense_Mutation_p.D499H|TRPS1_ENST00000519076.1_Intron NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 499 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GAGCTCTTGTCTGTCTTGGTC 0.443000 Langer-Giedion syndrome 7 108 0 0 1 0 0 MLKL 197259 broad.mit.edu 37 16 74729256 74729256 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr16:74729256C>T ENST00000308807.7 - 2 863 c.400G>A c.(400-402)Gca>Aca p.A134T MLKL_ENST00000306247.7_Missense_Mutation_p.A134T NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 134 ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 TCTTCCTGTGCCCAGGACGCT 0.542000 8 92 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343476 248343476 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:248343476C>T ENST00000359682.2 + 1 189 c.189C>T c.(187-189)ctC>ctT p.L63L NM_001004688.1 NP_001004688.1 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, member 2 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ACTTCCTCCTCAGCCAACTGT 0.532000 13 348 0 0 1 0 0 UACA 55075 broad.mit.edu 37 15 70961172 70961172 + Missense_Mutation SNP T T A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr15:70961172T>A ENST00000322954.6 - 16 2036 c.1851A>T c.(1849-1851)aaA>aaT p.K617N UACA_ENST00000560441.1_Missense_Mutation_p.K602N|UACA_ENST00000379983.2_Missense_Mutation_p.K604N|UACA_ENST00000539319.1_Missense_Mutation_p.K508N NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 617 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 CTGACAATTCTTTTGCCTGGC 0.378000 5 70 0 0 1 0 0 OR6N1 128372 broad.mit.edu 37 1 158735613 158735613 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:158735613G>C ENST00000335094.2 - 1 879 c.860C>G c.(859-861)cCc>cGc p.P287R NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) GTAGATGAAGGGGTTGAGGAA 0.522000 11 129 0 0 1 0 0 SLC4A9 83697 broad.mit.edu 37 5 139743448 139743448 + Silent SNP T T C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr5:139743448T>C ENST00000230993.6 + 9 1322 c.1287T>C c.(1285-1287)acT>acC p.T429T SLC4A9_ENST00000507527.1_Silent_p.T429T|SLC4A9_ENST00000506757.2_Silent_p.T405T|SLC4A9_ENST00000506545.1_Silent_p.T405T|SLC4A9_ENST00000432095.2_Silent_p.T394T NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 429 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCCATCACTTTTGGGGGTC 0.602000 4 36 0 0 1 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88932144 88932144 + Missense_Mutation SNP T T A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr9:88932144T>A ENST00000277141.6 - 18 3555 c.1131A>T c.(1129-1131)agA>agT p.R377S ZCCHC6_ENST00000375961.2_Missense_Mutation_p.R1088S|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R852S|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.R26S|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.R1088S Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 1088 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 CTGAATGTTTTCTGAGGACTC 0.353000 8 62 0 0 1 0 0 ADPRH 141 broad.mit.edu 37 3 119305355 119305355 + Silent SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr3:119305355G>A ENST00000478399.1 + 3 1927 c.522G>A c.(520-522)gcG>gcA p.A174A ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Silent_p.A174A|ADPRH_ENST00000357003.3_Silent_p.A174A|ADPRH_ENST00000478927.1_Silent_p.A174A P54922 ADPRH_HUMAN ADP-ribosylarginine hydrolase 174 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding breast(1)|kidney(1)|lung(10)|ovary(1) 13 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) GGGCCCTTGCGTCTGCTCTTT 0.537000 9 218 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33960221 33960221 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:33960221C>G ENST00000361328.3 + 8 2430 c.2277C>G c.(2275-2277)atC>atG p.I759M NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 759 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) ATCAGAGAATCCACACTGGAG 0.453000 9 94 0 0 1 0 0 CCNT2 905 broad.mit.edu 37 2 135694482 135694482 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:135694482C>G ENST00000264157.5 + 3 342 c.312C>G c.(310-312)atC>atG p.I104M CCNT2_ENST00000537343.1_5'UTR|CCNT2_ENST00000295238.6_Missense_Mutation_p.I104M NM_001241.3|NM_058241.2 NP_001232.1|NP_490595.1 O60583 CCNT2_HUMAN cyclin T2 104 cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein kinase binding endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(221;0.107) AACATGTTATCAAAGTAGCAC 0.343000 6 55 0 0 1 0 0 LILRB2 10288 broad.mit.edu 37 19 54783471 54783471 + Missense_Mutation SNP C C A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr19:54783471C>A ENST00000391748.1 - 5 514 c.387G>T c.(385-387)caG>caT p.Q129H LILRB2_ENST00000391749.4_Missense_Mutation_p.Q129H|LILRB2_ENST00000391746.1_Missense_Mutation_p.Q129H|LILRB2_ENST00000434421.1_Missense_Mutation_p.Q13H|LILRB2_ENST00000314446.5_Missense_Mutation_p.Q129H NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 129 Ig-like C2-type 2. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAGGGCTGGGCTGGGCTGAGA 0.587000 25 91 4.59853e-10 5.12463e-10 1 1 0 PPP2R2C 5522 broad.mit.edu 37 4 6335418 6335418 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr4:6335418G>C ENST00000335585.5 - 7 854 c.831C>G c.(829-831)ttC>ttG p.F277L PPP2R2C_ENST00000382599.4_Missense_Mutation_p.F277L|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.F260L|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.F270L|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.F270L NM_181876.2 NP_870991.1 Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 277 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 TGATTTCCGAGAAGAATGAGC 0.582000 OREG0016071 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 57 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746430 77746430 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:77746430C>T ENST00000409088.3 - 3 979 c.565G>A c.(565-567)Ggt>Agt p.G189S LRRTM4_ENST00000409282.1_Missense_Mutation_p.G190S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.G190S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.G189S|LRRTM4_ENST00000409093.1_Missense_Mutation_p.G189S NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 189 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) CGATTGTAACCCAAATCCAAA 0.423000 25 33 0 0 1 0 0 WISP1 8840 broad.mit.edu 37 8 134239811 134239811 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr8:134239811C>T ENST00000250160.6 + 5 1068 c.962C>T c.(961-963)tCc>tTc p.S321F WISP1_ENST00000519433.1_Missense_Mutation_p.S76F|WISP1_ENST00000220856.6_Missense_Mutation_p.S234F|WISP1_ENST00000517423.1_3'UTR|WISP1_ENST00000377863.2_Missense_Mutation_p.S149F NM_003882.3 NP_003873.1 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 321 CTCK. cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) ATCGACGTGTCCTTCCAGTGT 0.517000 5 79 0 0 1 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62652608 62652608 + Missense_Mutation SNP C C A rs141139124 by1000genomes TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr10:62652608C>A ENST00000337910.5 - 5 779 c.442G>T c.(442-444)Gac>Tac p.D148Y RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D148Y NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 148 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding p.D148Y(1) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) GCTTCCAGGTCGGCATAGCGG 0.502000 4 52 0.150653 0.15298 1 1 0 OR14C36 127066 broad.mit.edu 37 1 248512914 248512914 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:248512914C>T ENST00000317861.1 + 1 838 c.838C>T c.(838-840)Cct>Tct p.P280S NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 TTCCATAATGCCTCCCCTCTT 0.403000 23 86 0 0 1 0 0 SLC6A14 11254 broad.mit.edu 37 X 115582732 115582732 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chrX:115582732G>C ENST00000371900.4 + 8 1144 c.1056G>C c.(1054-1056)ttG>ttC p.L352F NM_007231.3 NP_009162.1 Q9UN76 S6A14_HUMAN solute carrier family 6 (amino acid transporter), member 14 352 cellular amino acid metabolic process|response to toxin integral to membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 23 L-Proline(DB00172) TGGTTTGTTTGACAAACTGTC 0.383000 6 53 0 0 1 0 0 ZNF682 91120 broad.mit.edu 37 19 20117026 20117026 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr19:20117026C>T ENST00000397165.2 - 4 1445 c.1285G>A c.(1285-1287)Gaa>Aaa p.E429K ZNF682_ENST00000595736.1_Missense_Mutation_p.E353K|ZNF682_ENST00000597972.1_Missense_Mutation_p.E435K|ZNF682_ENST00000397162.1_Missense_Mutation_p.E397K|ZNF682_ENST00000358523.5_Missense_Mutation_p.E397K|ZNF682_ENST00000596019.1_Intron NM_033196.2 NP_149973.1 O95780 ZN682_HUMAN zinc finger protein 682 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 14 TTTCCACATTCTTCACAGTTG 0.388000 3 46 0 0 1 0 0 CLEC17A 388512 broad.mit.edu 37 19 14710995 14710995 + Splice_Site SNP G G T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr19:14710995G>T ENST00000547437.1 + 12 971 c.e12+1 CLEC17A_ENST00000417570.1_Splice_Site|CLEC17A_ENST00000397439.2_Splice_Site NM_207390.3 NP_997273.3 Q6ZS10 CL17A_HUMAN C-type lectin domain family 17, member A cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity TGCTGAGCACGTGAGTTCTTC 0.498000 7 25 8.12818e-05 8.58519e-05 1 1 0 FOXL1 2300 broad.mit.edu 37 16 86613242 86613242 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr16:86613242C>T ENST00000320241.3 + 1 1128 c.913C>T c.(913-915)Cgt>Tgt p.R305C NM_005250.2 NP_005241.1 Q12952 FOXL1_HUMAN forkhead box L1 305 brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1) 15 CTCCAGCCTCCGTCCGCCTTT 0.672000 3 18 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19511697 19511697 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:19511697G>A ENST00000375267.2 - 15 1837 c.1834C>T c.(1834-1836)Ccc>Tcc p.P612S UBR4_ENST00000375254.3_Missense_Mutation_p.P612S|UBR4_ENST00000375217.2_Missense_Mutation_p.P612S|UBR4_ENST00000375226.2_Missense_Mutation_p.P612S Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 612 Pro-rich. interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GGAGGTGGGGGAGGAGGCGGA 0.522000 7 161 0 0 1 0 0 WNK1 65125 broad.mit.edu 37 12 936259 936259 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr12:936259C>G ENST00000537687.1 + 3 1627 c.984C>G c.(982-984)tgC>tgG p.C328W WNK1_ENST00000535572.1_Missense_Mutation_p.C328W|WNK1_ENST00000530271.2_Missense_Mutation_p.C328W|WNK1_ENST00000447667.2_Missense_Mutation_p.C328W|WNK1_ENST00000315939.6_Missense_Mutation_p.C328W NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 328 Protein kinase. intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity p.C328W(1) breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) GAAGCTGGTGCCGTCAGATCC 0.388000 8 89 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32631254 32631254 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr9:32631254G>A ENST00000242310.4 - 1 4413 c.4324C>T c.(4324-4326)Cgg>Tgg p.R1442W NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1442 Bromo 1. male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCCATTGGCCGAGTGATGATT 0.438000 19 131 0 0 1 0 0 C16orf82 162083 broad.mit.edu 37 16 27078280 27078280 + RNA SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr16:27078280C>G ENST00000505035.1 + 0 253 RP11-673P17.2_ENST00000565783.1_RNA Q7Z2V1 TNT_HUMAN AGAGAGGTCACAGCCAACATT 0.552000 5 62 0 0 1 0 0 ZBTB11 27107 broad.mit.edu 37 3 101370231 101370231 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr3:101370231G>C ENST00000312938.4 - 11 3521 c.2941C>G c.(2941-2943)Caa>Gaa p.Q981E NM_014415.3 NP_055230.2 O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 981 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TCAAGTTCTTGAGGACCACTG 0.458000 16 131 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50977010 50977010 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr18:50977010C>T ENST00000442544.2 + 23 3986 c.3370C>T c.(3370-3372)Cgc>Tgc p.R1124C DCC_ENST00000581580.1_Missense_Mutation_p.R759C NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1124 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) TTGCACCCGACGCTCTTCAGC 0.488000 6 35 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33960504 33960504 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:33960504C>G ENST00000361328.3 + 8 2713 c.2560C>G c.(2560-2562)Caa>Gaa p.Q854E NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 854 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TGAACAACCTCAAAGTATCAG 0.463000 12 170 0 0 1 0 0 SLC25A36 55186 broad.mit.edu 37 3 140675520 140675520 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr3:140675520C>G ENST00000446041.2 + 2 418 c.193C>G c.(193-195)Ctt>Gtt p.L65V SLC25A36_ENST00000453248.2_Missense_Mutation_p.L65V|SLC25A36_ENST00000507429.1_Missense_Mutation_p.L65V|SLC25A36_ENST00000324194.6_Missense_Mutation_p.L65V|SLC25A36_ENST00000393015.4_3'UTR NM_001104647.1|NM_018155.2 NP_001098117.1|NP_060625.2 Q96CQ1 S2536_HUMAN solute carrier family 25 (pyrimidine nucleotide carrier ), member 36 65 response to estradiol stimulus|transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 TCCCGGACCTCTTCATTGCCT 0.428000 14 98 0 0 1 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48588339 48588339 + Missense_Mutation SNP T T C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr19:48588339T>C ENST00000354276.3 - 10 1148 c.821A>G c.(820-822)aAa>aGa p.K274R PLA2G4C_ENST00000413144.2_Missense_Mutation_p.K274R|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.K274R|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.K284R NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 274 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) TCCAATGCTTTTAGCATTAGC 0.373000 4 44 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101203719 101203719 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:101203719C>T ENST00000294728.2 + 9 2201 c.2100C>T c.(2098-2100)ctC>ctT p.L700L VCAM1_ENST00000347652.2_Silent_p.L608L|VCAM1_ENST00000370115.1_Silent_p.L501L|VCAM1_ENST00000370119.4_Silent_p.L638L NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 700 heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding p.L700L(1) central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CTGAGCTTCTCGTGCTCTATT 0.338000 20 109 0 0 1 0 0 ZNF257 113835 broad.mit.edu 37 19 22271673 22271673 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr19:22271673G>A ENST00000594947.1 + 4 1265 c.1121G>A c.(1120-1122)tGt>tAt p.C374Y NM_033468.2 NP_258429.2 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 374 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|lung(4) 6 all_lung(12;0.0961)|Lung NSC(12;0.103) CCCTACAAATGTGAAGAGTGT 0.378000 5 25 0 0 1 0 0 UTP15 84135 broad.mit.edu 37 5 72875907 72875907 + Missense_Mutation SNP G G T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr5:72875907G>T ENST00000296792.4 + 13 1800 c.1545G>T c.(1543-1545)aaG>aaT p.K515N UTP15_ENST00000508491.1_Missense_Mutation_p.K496N|UTP15_ENST00000543251.1_Missense_Mutation_p.K325N NM_032175.2 NP_115551.2 Q8TED0 UTP15_HUMAN UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) 515 rRNA processing cytoplasm|nucleolus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 15 Lung NSC(167;0.00405)|Ovarian(174;0.0129) OV - Ovarian serous cystadenocarcinoma(47;7.76e-55) AGAATAAGAAGATAGAATCAT 0.378000 4 54 0.00909568 0.00930803 1 1 0 CYP27B1 1594 broad.mit.edu 37 12 58160780 58160780 + Silent SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr12:58160780G>A ENST00000228606.4 - 1 254 c.45C>T c.(43-45)gtC>gtT p.V15V RP11-571M6.13_ENST00000546609.1_RNA NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 15 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) GCGCCCAGCGGACGCGATGGA 0.612000 5 118 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102643601 102643601 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr11:102643601G>C ENST00000279441.4 - 8 1239 c.1203C>G c.(1201-1203)ttC>ttG p.F401L NM_002425.2 NP_002416.1 P09238 MMP10_HUMAN matrix metallopeptidase 10 (stromelysin 2) 401 Hemopexin-like 3. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) CCGCTGCAAAGAAGTATGTTT 0.383000 9 136 0 0 1 0 0 SNX25 83891 broad.mit.edu 37 4 186283801 186283801 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr4:186283801G>C ENST00000504273.1 + 18 2672 c.2378G>C c.(2377-2379)cGc>cCc p.R793P SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.R793P Q9H3E2 SNX25_HUMAN sorting nexin 25 793 cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) CAAAATGCCCGCCACGGTATA 0.393000 16 151 0 0 1 0 0 PEX2 5828 broad.mit.edu 37 8 77896226 77896226 + Silent SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr8:77896226G>A ENST00000419564.2 - 4 653 c.189C>T c.(187-189)ttC>ttT p.F63F PEX2_ENST00000357039.4_Silent_p.F63F|PEX2_ENST00000522527.1_Silent_p.F63F|PEX2_ENST00000520103.1_Silent_p.F63F NM_001172087.1 NP_001165558.1 P28328 PEX2_HUMAN peroxisomal biogenesis factor 2 63 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 14 ATCTCCACAAGAAAACCCATA 0.428000 6 58 0 0 1 0 0 CLK2 1196 broad.mit.edu 37 1 155235737 155235737 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:155235737C>G ENST00000368361.4 - 8 1162 c.847G>C c.(847-849)Gat>Cat p.D283H CLK2_ENST00000355560.4_Missense_Mutation_p.D281H|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000361168.5_Missense_Mutation_p.D282H|CLK2_ENST00000536801.1_Missense_Mutation_p.D283H P49760 CLK2_HUMAN CDC-like kinase 2 283 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.D283N(1) endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 22 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AGCTTGTTATCATGGAGGACT 0.502000 Other conserved DNA damage response genes 4 80 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47970749 47970749 + Missense_Mutation SNP T T A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr7:47970749T>A ENST00000289672.2 - 6 739 c.689A>T c.(688-690)cAg>cTg p.Q230L NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 230 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 GGGCACTCGCTGGGAGCTGGT 0.612000 6 45 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56203977 56203977 + Missense_Mutation SNP G G C rs112151030 byFrequency TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr18:56203977G>C ENST00000361673.3 - 5 3655 c.3442C>G c.(3442-3444)Ctt>Gtt p.L1148V RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1148 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 GGTGCAGAAAGAGAACCCTGC 0.517000 7 134 0 0 1 0 0 TFB2M 64216 broad.mit.edu 37 1 246704444 246704444 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:246704444C>T ENST00000366514.4 - 8 1265 c.1080G>A c.(1078-1080)gaG>gaA p.E360E NM_022366.2 NP_071761.1 Q9H5Q4 TFB2M_HUMAN transcription factor B2, mitochondrial 360 positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter mitochondrial nucleoid protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376) OV - Ovarian serous cystadenocarcinoma(106;0.00358) TAACTACTTTCTCATCCTCCT 0.353000 4 37 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165715297 165715297 + Missense_Mutation SNP G G T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr6:165715297G>T ENST00000543069.1 - 2 783 c.202C>A c.(202-204)Cgc>Agc p.R68S C6orf118_ENST00000230301.8_Missense_Mutation_p.R172S Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 172 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) TCCCTCCTGCGCCATCCAGGA 0.612000 18 35 5.3912e-06 5.88335e-06 1 1 0 NID2 22795 broad.mit.edu 37 14 52520354 52520354 + Missense_Mutation SNP A A C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr14:52520354A>C ENST00000216286.5 - 5 1371 c.1372T>G c.(1372-1374)Tta>Gta p.L458V NID2_ENST00000541773.1_Missense_Mutation_p.L405V NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 458 basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CCTCGACTTAAGGGTGTAGTG 0.493000 20 116 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107553272 107553272 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr9:107553272G>A ENST00000374736.3 - 44 6252 c.5858C>T c.(5857-5859)tCa>tTa p.S1953L NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1953 ABC transporter 2. Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GAAAGTTGATGATTTTCCAGC 0.383000 5 139 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33960512 33960512 + Silent SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:33960512C>T ENST00000361328.3 + 8 2721 c.2568C>T c.(2566-2568)atC>atT p.I856I NM_145238.3 NP_660281.2 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 856 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CTCAAAGTATCAGTAAGGACT 0.468000 13 169 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43492249 43492249 + Missense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr6:43492249C>T ENST00000265351.7 - 31 3647 c.3437G>A c.(3436-3438)cGa>cAa p.R1146Q POLR1C_ENST00000304004.3_Intron NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 1146 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) TTGGTCCTTTCGGCGCTTGTC 0.488000 11 44 0 0 1 0 0 OR51L1 119682 broad.mit.edu 37 11 5020812 5020812 + Nonsense_Mutation SNP T T A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr11:5020812T>A ENST00000321543.1 + 1 600 c.600T>A c.(598-600)taT>taA p.Y200* NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ACAGTATTTATGGGCTTTGTG 0.428000 8 55 0 0 1 0 0 MAML2 84441 broad.mit.edu 37 11 95826265 95826265 + Silent SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr11:95826265G>A ENST00000524717.1 - 2 2214 c.930C>T c.(928-930)ttC>ttT p.F310F NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 310 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) TCAGTTCATTGAACAGTTCCT 0.453000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 6 74 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27446491 27446491 + Silent SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:27446491G>C ENST00000264705.4 + 7 1032 c.870G>C c.(868-870)ctG>ctC p.L290L CAD_ENST00000403525.1_Silent_p.L290L NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 290 GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity p.L290L(1) NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GCTGCTTTCTGACATCCCAGA 0.567000 6 165 0 0 1 0 0 TIGD7 91151 broad.mit.edu 37 16 3350076 3350076 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr16:3350076G>C ENST00000396862.1 - 2 2367 c.539C>G c.(538-540)aCa>aGa p.T180R TIGD7_ENST00000268674.2_Missense_Mutation_p.T180R NM_033208.3 NP_149985.2 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 180 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 aaagaggtctgtttcatcccc 0.398000 44 148 0 0 1 0 0 PDK3 5165 broad.mit.edu 37 X 24521477 24521477 + Missense_Mutation SNP A A T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chrX:24521477A>T ENST00000441463.2 + 4 354 c.354A>T c.(352-354)agA>agT p.R118S PDK3_ENST00000379162.4_Missense_Mutation_p.R118S NM_001142386.2 NP_001135858.1 Q15120 PDK3_HUMAN pyruvate dehydrogenase kinase, isozyme 3 118 glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 TCAGAAATAGACACAATGATG 0.403000 8 15 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49720032 49720032 + Nonsense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr13:49720032C>G ENST00000492622.2 + 8 1243 c.938C>G c.(937-939)tCa>tGa p.S313* FNDC3A_ENST00000398316.3_Nonsense_Mutation_p.S257*|FNDC3A_ENST00000541916.1_Nonsense_Mutation_p.S313* NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 313 Fibronectin type-III 1. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) GTTCTGATCTCAAGTACTGGA 0.368000 4 51 0 0 1 0 0 HBM 3042 broad.mit.edu 37 16 216647 216647 + Silent SNP A A G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr16:216647A>G ENST00000356815.3 + 3 386 c.366A>G c.(364-366)caA>caG p.Q122Q HBM_ENST00000472539.1_3'UTR NM_001003938.3 NP_001003938.1 Q6B0K9 HBM_HUMAN hemoglobin, mu 122 hemoglobin complex heme binding|oxygen binding|oxygen transporter activity all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) TGCAAATGCAAGCGGCGTGGG 0.602000 4 22 0 0 1 0 0 KIAA1377 57562 broad.mit.edu 37 11 101829032 101829032 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr11:101829032G>A ENST00000263468.8 + 5 910 c.640G>A c.(640-642)Gtg>Atg p.V214M KIAA1377_ENST00000537689.1_Missense_Mutation_p.V15M NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 214 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TAGCAAAAATGTGTTCCAGCT 0.323000 9 153 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113331173 113331173 + Missense_Mutation SNP A A T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr8:113331173A>T ENST00000297405.5 - 47 7497 c.7253T>A c.(7252-7254)aTt>aAt p.I2418N CSMD3_ENST00000455883.2_Missense_Mutation_p.I2314N|CSMD3_ENST00000343508.3_Missense_Mutation_p.I2378N|CSMD3_ENST00000352409.3_Missense_Mutation_p.I2348N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2418 Sushi 13. 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 ATACCTAATAATATCACCTAT 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 28 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4919462 4919462 + Missense_Mutation SNP C C G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr12:4919462C>G ENST00000433855.1 + 1 1121 c.255C>G c.(253-255)ttC>ttG p.F85L KCNA6_ENST00000280684.3_Missense_Mutation_p.F85L NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 85 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 ACGAGTACTTCTTCGACCGCA 0.632000 HNSCC(72;0.22) 4 84 0 0 1 0 0 CYP4F22 126410 broad.mit.edu 37 19 15651283 15651283 + Missense_Mutation SNP G G A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr19:15651283G>A ENST00000269703.2 + 8 893 c.694G>A c.(694-696)Gct>Act p.A232T CYP4F22_ENST00000601005.2_Missense_Mutation_p.A232T NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 232 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 TTATATCTCCGCTATCATTGA 0.552000 8 74 0 0 1 0 0 CCDC18 343099 broad.mit.edu 37 1 93698028 93698028 + Nonsense_Mutation SNP C C T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:93698028C>T ENST00000343253.7 + 18 2837 c.2335C>T c.(2335-2337)Caa>Taa p.Q779* CCDC18_ENST00000338949.4_Nonsense_Mutation_p.Q535*|CCDC18_ENST00000557479.1_Nonsense_Mutation_p.Q898*|CCDC18_ENST00000401026.3_Nonsense_Mutation_p.Q780*|CCDC18_ENST00000334652.5_Nonsense_Mutation_p.Q75*|CCDC18_ENST00000421014.2_3'UTR Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 779 breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TCACAGTCTTCAAGAGACTTC 0.328000 5 56 0 0 1 0 0 LOC81691 81691 broad.mit.edu 37 16 20838439 20838439 + Missense_Mutation SNP A A G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr16:20838439A>G ENST00000261377.6 + 9 1090 c.881A>G c.(880-882)cAg>cGg p.Q294R AC004381.6_ENST00000348433.6_Missense_Mutation_p.Q294R|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.Q294R NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 AAAGATGTACAGAGGCAGTTA 0.413000 5 78 0 0 1 0 0 RNF113B 140432 broad.mit.edu 37 13 98828834 98828834 + Silent SNP A A G TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr13:98828834A>G ENST00000267291.6 - 1 685 c.657T>C c.(655-657)gaT>gaC p.D219D FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Intron NM_178861.4 NP_849192.1 Q8IZP6 R113B_HUMAN ring finger protein 113B 219 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) CGAGCTTGTAATCGGAACGGT 0.542000 13 76 0 0 1 0 0 SGPP1 81537 broad.mit.edu 37 14 64165370 64165370 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr14:64165370G>C ENST00000247225.6 - 2 785 c.691C>G c.(691-693)Ctt>Gtt p.L231V NM_030791.2 NP_110418.1 Q9BX95 SGPP1_HUMAN sphingosine-1-phosphate phosphatase 1 231 endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 10 OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103) CCATATATAAGAGGGTACTAA 0.303000 3 38 0 0 1 0 0 SNPH 9751 broad.mit.edu 37 20 1285974 1285974 + Missense_Mutation SNP G G A rs144751280 TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr20:1285974G>A ENST00000381867.1 + 7 1535 c.893G>A c.(892-894)cGg>cAg p.R298Q SNPH_ENST00000381873.3_Missense_Mutation_p.R254Q O15079 SNPH_HUMAN syntaphilin 254 synaptic vesicle docking involved in exocytosis cell junction|integral to membrane|synapse|synaptosome syntaxin-1 binding endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 ACACTGAGCCGGACGGACGCG 0.687000 6 41 0 0 1 0 0 KRTAP12-3 386683 broad.mit.edu 37 21 46077981 46077981 + Missense_Mutation SNP A A T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr21:46077981A>T ENST00000397907.1 + 1 133 c.85A>T c.(85-87)Agc>Tgc p.S29C TSPEAR_ENST00000323084.4_Intron NM_198697.2 NP_941970.2 P60328 KR123_HUMAN keratin associated protein 12-3 29 14 X 5 AA approximate repeats. intermediate filament central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 TGTGCCCGTGAGCTGCCAGTC 0.677000 14 89 0 0 1 0 0 STRADB 55437 broad.mit.edu 37 2 202343179 202343179 + Missense_Mutation SNP G G C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr2:202343179G>C ENST00000194530.3 + 10 1290 c.925G>C c.(925-927)Gac>Cac p.D309H STRADB_ENST00000392249.2_Missense_Mutation_p.D309H NM_001206864.1|NM_018571.5 NP_001193793.1|NP_061041.2 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 309 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1) 13 GTCAGGTGTAGACTCTGGGAT 0.428000 4 70 0 0 1 0 0 NXF2B 728343 broad.mit.edu 37 X 101623790 101623790 + Splice_Site SNP T T C TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chrX:101623790T>C ENST00000457521.2 - 19 2445 c.e19-2 NXF2B_ENST00000372752.1_Splice_Site|NXF2B_ENST00000412230.2_Splice_Site|NXF2B_ENST00000372749.1_Splice_Site|NXF2B_ENST00000372750.1_Splice_Site nuclear RNA export factor 2B breast(1)|kidney(1)|lung(4)|ovary(1) 7 TATACATATCTGCAGGAAGGC 0.493000 4 39 0 0 1 0 0 PIGC 5279 broad.mit.edu 37 1 172411741 172411742 + Frame_Shift_Ins INS - - A TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr1:172411741_172411742insA ENST00000367728.1 - 1 1484_1485 c.21_22insT c.(19-24)acacacfs p.H8fs PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Frame_Shift_Ins_p.H8fs|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_Frame_Shift_Ins_p.H8fs Q92535 PIGC_HUMAN phosphatidylinositol glycan anchor biosynthesis, class C 8 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity breast(1)|endometrium(1)|kidney(1)|lung(1) 4 TCCTTGGTGTTAGTCACAGGTT 0.455 7 144 --- --- --- --- ABCA2 20 broad.mit.edu 37 9 139915366 139915366 + Frame_Shift_Del DEL G G - TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr9:139915366delG ENST00000265662.5 - 9 1192 c.1045delC c.(1045-1047)agfs p.Q349fs ABCA2_ENST00000492260.1_5'UTR|ABCA2_ENST00000371605.3_Frame_Shift_Del_p.Q348fs|ABCA2_ENST00000341511.6_Frame_Shift_Del_p.Q349fs Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 348 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CAGGCACCCTGGGGCAGTAGC 0.711 2 4 --- --- --- --- CKAP2P1 100420763 broad.mit.edu 37 14 21580890 21580890 + RNA DEL T T - TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 20d11092-524f-4f37-b719-86a2d26c6623 97e2d630-2d6e-468b-b029-bf142f618a4c g.chr14:21580890delT ENST00000320322.2 + 0 117 GCTCTGTTGCTTTAGGAATAG 0.373 2 4 --- --- --- ---