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 DCAF4L1 285429 broad.mit.edu 37 4 41983829 41983829 + Missense_Mutation SNP G G A TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr4:41983829G>A ENST00000333141.5 + 1 117 c.20G>A c.(19-21)cGa>cAa p.R7Q NM_001029955.3 NP_001025126.2 Q3SXM0 DC4L1_HUMAN DDB1 and CUL4 associated factor 4-like 1 7 breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1) 37 GAAAGGCTGCGACTCCTCGAG 0.502000 5 86 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106845820 106845820 + Silent SNP C C T rs41305439 by1000genomes TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chrX:106845820C>T ENST00000276185.4 + 16 4650 c.4650C>T c.(4648-4650)tcC>tcT p.S1550S Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1550 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 ATGAGCTCTCCTACTCTATCC 0.567000 4 91 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48905245 48905245 + Missense_Mutation SNP C C G TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr15:48905245C>G ENST00000316623.5 - 3 664 c.209G>C c.(208-210)gGa>gCa p.G70A NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 70 heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GGTTTTCCATCCAGGGCAACA 0.383000 15 134 0 0 1 0 0 ATP2B4 493 broad.mit.edu 37 1 203691620 203691620 + Missense_Mutation SNP G G A TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr1:203691620G>A ENST00000357681.5 + 18 3950 c.2827G>A c.(2827-2829)Gat>Aat p.D943N ATP2B4_ENST00000341360.2_Missense_Mutation_p.D943N|ATP2B4_ENST00000367218.3_Missense_Mutation_p.D943N|ATP2B4_ENST00000367219.3_Missense_Mutation_p.D931N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.D943N NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 943 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) GAAATTCTTTGATATTGATAG 0.433000 29 73 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625947 29625947 + Missense_Mutation SNP T T C TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr20:29625947T>C ENST00000278882.3 + 5 571 c.191T>C c.(190-192)aTt>aCt p.I64T FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T p.I64T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCAGATGCAATTGGACCAAGA 0.343000 7 126 0 0 1 0 0 TNFAIP6 7130 broad.mit.edu 37 2 152235947 152235947 + Missense_Mutation SNP T T C TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr2:152235947T>C ENST00000243347.3 + 6 809 c.734T>C c.(733-735)gTt>gCt p.V245A NM_007115.3 NP_009046.2 P98066 TSG6_HUMAN tumor necrosis factor, alpha-induced protein 6 245 CUB. cell adhesion|cell-cell signaling|inflammatory response|signal transduction hyaluronic acid binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.131) ATCAAATATGTTGCAATGGAT 0.378000 15 159 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38320195 38320195 + Missense_Mutation SNP G G A TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr13:38320195G>A ENST00000379705.3 - 3 1633 c.776C>T c.(775-777)aCg>aTg p.T259M TRPC4_ENST00000355779.2_Missense_Mutation_p.T259M|TRPC4_ENST00000426868.2_Missense_Mutation_p.T259M|TRPC4_ENST00000447043.1_Missense_Mutation_p.T259M|TRPC4_ENST00000379673.2_Missense_Mutation_p.T259M|TRPC4_ENST00000358477.2_Missense_Mutation_p.T259M|TRPC4_ENST00000379681.3_Missense_Mutation_p.T259M|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000338947.5_Intron Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 259 Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GGAACTTCTCGTCTGATCCAG 0.413000 58 131 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228466409 228466409 + Silent SNP G G A TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr1:228466409G>A ENST00000570156.2 + 31 8240 c.8166G>A c.(8164-8166)gtG>gtA p.V2722V OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.V2293V|OBSCN_ENST00000359599.6_Silent_p.V1140V|OBSCN_ENST00000284548.11_Silent_p.V2293V NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1720 Ig-like 26. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGACCCTCGTGCGCCCGCTGC 0.667000 11 84 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072984 34072984 + Missense_Mutation SNP C C T rs144024552 TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr17:34072984C>T ENST00000254466.6 - 6 1559 c.1532G>A c.(1531-1533)cGc>cAc p.R511H GAS2L2_ENST00000587565.1_Missense_Mutation_p.R495H NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 511 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGTTGGGGGGCGAGCAGGGGG 0.607000 26 77 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79470893 79470893 + Missense_Mutation SNP T T A TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr1:79470893T>A ENST00000370742.3 - 2 97 c.34A>T c.(34-36)Act>Tct p.T12S NM_022159.3 NP_071442.2 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain containing 1 12 neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTCAACAAAGTGGAAAAAACC 0.313000 12 31 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 6 58 0 0 1 0 0 GLIS1 148979 broad.mit.edu 37 1 53975547 53975547 + Silent SNP T T G TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr1:53975547T>G ENST00000312233.2 - 8 2078 c.1512A>C c.(1510-1512)ccA>ccC p.P504P NM_147193.2 NP_671726.2 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 504 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 GAGGCGGGGGTGGAGGGCTCT 0.672000 4 17 0 0 1 0 0 MED15 51586 broad.mit.edu 37 22 20922879 20922879 + Missense_Mutation SNP G G C TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr22:20922879G>C ENST00000263205.7 + 8 1182 c.1113G>C c.(1111-1113)caG>caC p.Q371H MED15_ENST00000292733.7_Missense_Mutation_p.Q371H|MED15_ENST00000542773.1_Missense_Mutation_p.176_176insH|MED15_ENST00000382974.2_Missense_Mutation_p.Q300H|MED15_ENST00000541476.1_Missense_Mutation_p.Q345H|MED15_ENST00000425759.2_Missense_Mutation_p.Q260H|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.Q345H NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 371 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) CAGCAGTACAGACAGCTCAGG 0.617000 12 42 0 0 1 0 0 C1QL2 165257 broad.mit.edu 37 2 119915213 119915213 + Missense_Mutation SNP C C T TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr2:119915213C>T ENST00000272520.3 - 1 1252 c.633G>A c.(631-633)atG>atA p.M211I NM_182528.3 NP_872334.2 Q7Z5L3 C1QL2_HUMAN complement component 1, q subcomponent-like 2 211 C1q. collagen NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1) 7 CGCCGCCGCGCATGAGGATGT 0.637000 HNSCC(49;0.14) 25 45 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296448 145296448 + Missense_Mutation SNP T T A rs4996268 by1000genomes TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr1:145296448T>A ENST00000342960.5 + 3 405 c.370T>A c.(370-372)Tat>Aat p.Y124N RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 124 p.Y124N(2) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CCGCTCATTGTATGAGCATCT 0.562000 18 424 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25442635 25442635 + RNA SNP G G T TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr15:25442635G>T ENST00000424208.1 + 0 1611 SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA NR_003305.1 CCTTCCTGATGCCCTGGTCTC 0.592000 34 69 2.46105e-21 2.60872e-21 1 1 0 RAPGEF6 51735 broad.mit.edu 37 5 130766933 130766933 + Missense_Mutation SNP G G A rs147775864 TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr5:130766933G>A ENST00000509018.1 - 26 4289 c.4084C>T c.(4084-4086)Cgt>Tgt p.R1362C RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R1370C|FNIP1_ENST00000514667.1_Missense_Mutation_p.R1412C|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R1370C|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R1375C NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 1362 Ser-rich. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) CAACTTCCACGACCACTGTCA 0.433000 39 73 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247151356 247151356 + Missense_Mutation SNP T T C TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr1:247151356T>C ENST00000339986.7 - 4 608 c.461A>G c.(460-462)aAa>aGa p.K154R ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 154 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TTGAAAGTTTTTGCTATGAGT 0.348000 24 245 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25538149 25538149 + Missense_Mutation SNP G G A TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr6:25538149G>A ENST00000329474.6 + 25 2502 c.2134G>A c.(2134-2136)Gct>Act p.A712T NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 712 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 TGGGGGAGACGCTATCCAGGA 0.433000 3 16 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1592193 1592193 + Silent SNP C C T TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr20:1592193C>T ENST00000279477.7 - 2 307 c.243G>A c.(241-243)caG>caA p.Q81Q SIRPB1_ENST00000568365.1_Silent_p.Q81Q|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381605.4_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 81 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGCCTTCTTTCTGATTGTAGA 0.522000 4 56 0 0 1 0 0 CAND2 23066 broad.mit.edu 37 3 12845003 12845003 + Missense_Mutation SNP G G T TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr3:12845003G>T ENST00000456430.2 + 2 126 c.85G>T c.(85-87)Gac>Tac p.D29Y CAND2_ENST00000295989.5_Missense_Mutation_p.D29Y NM_001162499.1 NP_001155971.1 O75155 CAND2_HUMAN cullin-associated and neddylation-dissociated 2 (putative) 29 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GGCCACCAGCGACCTGATGTC 0.607000 4 79 1.23904e-05 1.26287e-05 1 1 0 ALDH3A1 218 broad.mit.edu 37 17 19648303 19648303 + Missense_Mutation SNP G G C TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr17:19648303G>C ENST00000457500.2 - 1 469 c.140C>G c.(139-141)gCg>gGg p.A47G ALDH3A1_ENST00000225740.6_Missense_Mutation_p.A47G|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.A47G|ALDH3A1_ENST00000485231.1_Intron|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.A47G|ALDH3A1_ENST00000494157.2_Intron NM_001135168.1 NP_001128640.1 P30838 AL3A1_HUMAN aldehyde dehydrogenase 3 family, member A1 47 cellular aldehyde metabolic process cytosol|endoplasmic reticulum alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186) Colorectal(15;0.0829) NADH(DB00157) TGCGGCCAGCGCGCCCACCAG 0.716000 3 16 0 0 1 0 0 TBX18 9096 broad.mit.edu 37 6 85457764 85457764 + Silent SNP G G A TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr6:85457764G>A ENST00000369663.5 - 5 1150 c.813C>T c.(811-813)caC>caT p.H271H TBX18_ENST00000606784.1_Silent_p.H113H|TBX18_ENST00000606521.1_5'UTR NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 271 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TACGGATGACGTGCACTCGCG 0.448000 6 59 0 0 1 0 0 ENTPD6 0 broad.mit.edu 37 20 25201904 25201904 + Missense_Mutation SNP C C T TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr20:25201904C>T ENST00000360031.2 + 11 1159 c.977C>T c.(976-978)tCt>tTt p.S326F ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000376652.4_Missense_Mutation_p.S327F|ENTPD6_ENST00000354989.5_Missense_Mutation_p.S310F NM_001247.2 NP_001238.2 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 327 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 CCTTGCTTGTCTCCCAGTTTC 0.512000 20 43 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6166702 6166702 + Missense_Mutation SNP G G A TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr1:6166702G>A ENST00000262450.3 - 39 5815 c.5716C>T c.(5716-5718)Cgc>Tgc p.R1906C CHD5_ENST00000378021.1_Missense_Mutation_p.R763C NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1906 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TCCCCGGCGCGGTTGGTCAGG 0.751000 5 12 0 0 1 0 0 RPL28 6158 broad.mit.edu 37 19 55898050 55898050 + Missense_Mutation SNP A A T TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr19:55898050A>T ENST00000344063.2 + 3 823 c.194A>T c.(193-195)aAg>aTg p.K65M RPL28_ENST00000431533.2_Missense_Mutation_p.K65M|RPL28_ENST00000559463.1_Missense_Mutation_p.K65M|RPL28_ENST00000558752.1_Missense_Mutation_p.K65M|RPL28_ENST00000558131.1_Intron|RPL28_ENST00000560583.1_Missense_Mutation_p.K65M|RPL28_ENST00000560055.1_Missense_Mutation_p.K65M|RPL28_ENST00000458349.2_Missense_Mutation_p.K65M|RPL28_ENST00000428193.2_Missense_Mutation_p.K65M|RPL28_ENST00000558815.1_Missense_Mutation_p.K65M P46779 RL28_HUMAN ribosomal protein L28 65 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 Breast(117;0.191) Renal(1328;0.245) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0443) GTGGTCATTAAGCGGAGATCC 0.577000 47 113 0 0 1 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726774 32726774 + Missense_Mutation SNP C C T TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr6:32726774C>T ENST00000435145.2 - 3 560 c.499G>A c.(499-501)Gcc>Acc p.A167T HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.A167T|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A167T Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 167 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex p.A167T(1) endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 ACAACACCGGCTGTCTCCTCC 0.542000 5 68 0 0 1 0 0 TAF5 6877 broad.mit.edu 37 10 105133312 105133312 + Missense_Mutation SNP T T A TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr10:105133312T>A ENST00000369839.3 + 2 780 c.757T>A c.(757-759)Tac>Aac p.Y253N TAF5_ENST00000351396.4_Missense_Mutation_p.Y253N NM_006951.3 NP_008882.2 Q15542 TAF5_HUMAN TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa 253 histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2) 15 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) GGAGCTAGTCTACAATCAACA 0.388000 29 54 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145327548 145327548 + Missense_Mutation SNP A A G TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr1:145327548A>G ENST00000342960.5 + 32 4140 c.4105A>G c.(4105-4107)Aat>Gat p.N1369D NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 1369 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GGACTCACTGAATAGATGTTA 0.473000 4 2 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420975 105420975 + Silent SNP C C A TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr14:105420975C>A ENST00000333244.5 - 7 932 c.813G>T c.(811-813)cgG>cgT p.R271R NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 271 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GTCCCGGCCCCCGCTTGCTCT 0.582000 7 19 1.12685e-05 1.17104e-05 1 1 0 BCL11A 53335 broad.mit.edu 37 2 60689483 60689483 + Silent SNP G G A TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr2:60689483G>A ENST00000335712.6 - 4 791 c.564C>T c.(562-564)caC>caT p.H188H BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.H188H|BCL11A_ENST00000538214.1_Silent_p.H154H|BCL11A_ENST00000359629.5_Silent_p.H188H|BCL11A_ENST00000358510.4_Silent_p.H154H|BCL11A_ENST00000537768.1_Silent_p.H36H NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 188 Required for nuclear body formation and for SUMO1 recruitment (By similarity). negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding p.H188H(3) NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TGTTCTGTGCGTGTTGCAAGA 0.473000 T IGH@ B-CLL 26 62 0 0 1 0 0 PADI6 353238 broad.mit.edu 37 1 17720687 17720687 + RNA DEL G G - rs67226027 TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr1:17720687delG ENST00000434762.2 + 0 1233 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGGCCTCTGAGGGGGGAGGGG 0.587 9 14 --- --- --- --- LCE4A 199834 broad.mit.edu 37 1 152681689 152681690 + In_Frame_Ins INS - - GGCTGCTGTAGCTCTGGC TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr1:152681689_152681690insGGCTGCTGTAGCTCTGGC ENST00000368777.1 + 2 394_395 c.138_139insGGCTGCTGTAGCTCTGGC c.(136-141)gggctg>ggGGCTGCTGTAGCTCTGGCgctg p.46_47GL>GAAVALAL LCE4A_ENST00000335535.3_In_Frame_Ins_p.46_47GL>GAAVALAL Q5TA78 LCE4A_HUMAN late cornified envelope 4A 46 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1) 10 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) CCAGCTCTGGGGGCTGTGGTTG 0.579 8 203 --- --- --- --- IKZF2 22807 broad.mit.edu 37 2 214012404 214012405 + Frame_Shift_Del DEL AA AA - rs6738070 by1000genomes TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr2:214012404_214012405delAA ENST00000442445.1 - 3 241_242 c.184_185delTT c.(184-186)gfs p.L62fs IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000413091.3_Intron|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000342002.2_Intron Q9UKS7 IKZF2_HUMAN IKAROS family zinc finger 2 (Helios) 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Esophageal squamous(248;0.0559)|Renal(323;0.218) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792) ACACACACACAAAAAAAAATCA 0.411 19 125 --- --- --- --- KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs34838882 by1000genomes TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr5:113698631_113698632insGCC ENST00000512097.3 + 2 1177_1178 c.159_160insGCC c.(157-162)gcccgc>gcGCCccgc p.53_54AR>APR KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 53 Poly-Ala. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.703 12 9 --- --- --- --- PCDHB10 0 broad.mit.edu 37 5 140574170 140574175 + In_Frame_Del DEL AGGCCG AGGCCG - rs58244182 byFrequency TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr5:140574170_140574175delAGGCCG ENST00000239446.4 + 1 2229_2234 c.2045_2050delAGGCCG c.(2044-2052)cag>c p.QAE682del NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 682 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCAGGCCCAGGCCGAGGCCGACTT 0.704 17 145 --- --- --- --- TRBV6-5 0 broad.mit.edu 37 7 142180819 142180821 + RNA DEL AGG AGG - TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr7:142180819_142180821delAGG ENST00000390368.2 - 0 115 CCTGCAGAGAAGGAGAACAAAGC 0.557 12 135 --- --- --- --- CLIP1 6249 broad.mit.edu 37 12 122812690 122812691 + Frame_Shift_Ins INS - - T TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr12:122812690_122812691insT ENST00000358808.2 - 16 3173_3174 c.3019_3020insA c.(3019-3021)ccafs p.P1007fs CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 1018 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) CTGGTTGTGGCTTGTTTCCATT 0.505 9 198 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124824721 124824722 + In_Frame_Ins INS - - GCCGCTGCT rs72177573 by1000genomes TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr12:124824721_124824722insGCCGCTGCT ENST00000356219.3 - 38 5693_5694 c.5538_5539insAGCAGCGGC c.(5536-5541)gggggg>ggAGCAGCGGCgggg p.1846_1847GG>GAAAG NCOR2_ENST00000405201.1_In_Frame_Ins_p.1839_1840GG>GAAAG|NCOR2_ENST00000404621.1_In_Frame_Ins_p.1829_1830GG>GAAAG|NCOR2_ENST00000397355.1_In_Frame_Ins_p.1830_1831GG>GAAAG|NCOR2_ENST00000404121.2_In_Frame_Ins_p.1400_1401GG>GAAAG|NCOR2_ENST00000429285.2_In_Frame_Ins_p.1829_1830GG>GAAAG NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1850 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) cccccacccccgccgctgctgc 0.713 10 36 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 2 4 --- --- --- --- ULK4P3 0 broad.mit.edu 37 15 30406088 30406089 + RNA INS - - T TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr15:30406088_30406089insT ENST00000568486.1 + 0 402 NR_026859.1 TGCCTCAAAAGTTTTTTTTTTT 0.297 8 39 --- --- --- --- PEX12 5193 broad.mit.edu 37 17 33903106 33903107 + Frame_Shift_Ins INS - - C TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr17:33903106_33903107insC ENST00000225873.4 - 3 1381_1382 c.774_775insG c.(772-777)ttagttfs p.V259fs NM_000286.2 NP_000277.1 O00623 PEX12_HUMAN peroxisomal biogenesis factor 12 259 protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8) 18 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TCAAGGAACTGCAAGAAGAATA 0.465 56 92 --- --- --- --- FEM1A 55527 broad.mit.edu 37 19 4791992 4791992 + Frame_Shift_Del DEL A A - TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr19:4791992delA ENST00000269856.3 + 1 265 c.126delA c.(124-126)ggfs p.G42fs AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 42 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) CCGGCGGGGGAACGCCGCTAC 0.721 2 4 --- --- --- --- SIGLEC8 27181 broad.mit.edu 37 19 51961617 51961619 + In_Frame_Del DEL GCA GCA - TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr19:51961617_51961619delGCA ENST00000321424.3 - 1 89_91 c.23_25delTGC c.(22-27)ccc>c p.LP8del SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 8 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CAGagcaggggcagcagcagcag 0.596 7 145 --- --- --- --- KRTAP10-7 386675 broad.mit.edu 37 21 46020656 46020670 + In_Frame_Del DEL CTGCTGCGCCCCCAG CTGCTGCGCCCCCAG - rs36208679 TCGA-HC-7211-01A-11D-2114-08 TCGA-HC-7211-11A-01D-2114-08 Untested Somatic Phase_I WXS none Illumina GAIIx ff8ce081-3108-487c-afd1-a46bcae93fd2 47da9ef1-cc95-44f3-8566-406eb118835a g.chr21:46020656_46020670delCTGCTGCGCCCCCAG ENST00000380102.2 + 1 160_174 c.135_149delCTGCTGCGCCCCCAG c.(133-150)ccc>cc p.PCCAPS45del TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 45 30 X 5 AA repeats of C-C-X(3). keratin filament p.S50_P54delSCCAP(1) breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC 0.698 14 24 --- --- --- ---