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 KLHL35 283212 broad.mit.edu 37 11 75134897 75134897 + Missense_Mutation SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr11:75134897G>A ENST00000539798.1 - 5 1401 c.1402C>T c.(1402-1404)Cgg>Tgg p.R468W KLHL35_ENST00000376292.4_Missense_Mutation_p.R248W NM_001039548.2 NP_001034637.2 Q6PF15 KLH35_HUMAN kelch-like family member 35 248 lung(2)|stomach(1) 3 AGGCTCCACCGGTCCTCCTTG 0.612000 3 28 0 0 0.115264 0 0 ATP1B4 23439 broad.mit.edu 37 X 119500552 119500552 + Missense_Mutation SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chrX:119500552G>A ENST00000218008.3 + 2 293 c.236G>A c.(235-237)gGc>gAc p.G79D ATP1B4_ENST00000361319.3_Missense_Mutation_p.G79D|ATP1B4_ENST00000539306.1_Missense_Mutation_p.G79D NM_001142447.2 NP_001135919.1 Q9UN42 AT1B4_HUMAN ATPase, Na+/K+ transporting, beta 4 polypeptide 79 ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 33 CAGCCAACAGGCAATGCCTGG 0.527000 42 48 0 0 0.870114 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 95 0 0 0.150653 0 0 FAM13A 10144 broad.mit.edu 37 4 89702434 89702434 + Missense_Mutation SNP T T A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr4:89702434T>A ENST00000264344.5 - 11 1547 c.1340A>T c.(1339-1341)cAg>cTg p.Q447L FAM13A_ENST00000395002.2_Missense_Mutation_p.Q121L|FAM13A_ENST00000513837.1_Missense_Mutation_p.Q93L|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000508369.1_Missense_Mutation_p.Q121L|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q107L NM_014883.3 NP_055698.2 O94988 FA13A_HUMAN family with sequence similarity 13, member A 447 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 TTCGACTTCCTGAGTATTCAA 0.358000 38 78 0 0 0.819951 0 0 DCAF13 25879 broad.mit.edu 37 8 104444914 104444914 + Missense_Mutation SNP A A G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr8:104444914A>G ENST00000297579.5 + 7 1463 c.1186A>G c.(1186-1188)Atc>Gtc p.I396V DCAF13_ENST00000521999.1_3'UTR NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 244 rRNA processing CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 AACAAATACAATCTGTTGGAA 0.323000 27 34 0 0 0.804634 0 0 COBL 23242 broad.mit.edu 37 7 51092971 51092971 + Silent SNP C C T TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr7:51092971C>T ENST00000395542.2 - 14 4033 c.3849G>A c.(3847-3849)ctG>ctA p.L1283L COBL_ENST00000265136.7_Silent_p.L1201L O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 1201 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CTGGTGGGGACAGAAGACCAA 0.627000 25 48 0 0 0.779181 0 0 MUC4 4585 broad.mit.edu 37 3 195511870 195511870 + Missense_Mutation SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr3:195511870G>A ENST00000463781.3 - 2 7040 c.6581C>T c.(6580-6582)cCt>cTt p.P2194L MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2194L NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 983 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GTCGGTGACAGGAAGAGGGGT 0.592000 6 12 0 0 0.335167 0 0 ZNF507 22847 broad.mit.edu 37 19 32844893 32844893 + Missense_Mutation SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr19:32844893G>A ENST00000311921.3 + 2 1349 c.1157G>A c.(1156-1158)aGc>aAc p.S386N ZNF507_ENST00000355898.5_Missense_Mutation_p.S386N|ZNF507_ENST00000587084.1_3'UTR|ZNF507_ENST00000544431.1_Missense_Mutation_p.S386N NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 386 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) AAAATCATCAGCAGCAGCCCC 0.458000 3 46 0 0 0.115264 0 0 TRHDE 29953 broad.mit.edu 37 12 72667128 72667128 + Silent SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr12:72667128G>A ENST00000261180.4 + 1 666 c.570G>A c.(568-570)gaG>gaA p.E190E TRHDE-AS1_ENST00000426250.3_RNA NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 190 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TGGCGGTGGAGAAAGTGCAGC 0.612000 4 105 0 0 0.184627 0 0 OTUD6A 139562 broad.mit.edu 37 X 69283005 69283005 + Missense_Mutation SNP G G T TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chrX:69283005G>T ENST00000338352.2 + 1 665 c.631G>T c.(631-633)Gtg>Ttg p.V211L NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 211 OTU. p.V211M(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 CGACAACATCGTGCGCACCAC 0.612000 37 55 4.16155e-14 4.80178e-14 0.840704 1 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 3 14 0 0 0.150653 0 0 MARCH1 55016 broad.mit.edu 37 4 164506962 164506962 + Missense_Mutation SNP C C T TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr4:164506962C>T ENST00000503008.1 - 6 1338 c.362G>A c.(361-363)cGc>cAc p.R121H MARCH1_ENST00000274056.7_Missense_Mutation_p.R121H|MARCH1_ENST00000514618.1_Missense_Mutation_p.R377H|MARCH1_ENST00000339875.5_Missense_Mutation_p.R104H NM_001166373.1 NP_001159845.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 121 antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CTCACAGCAGCGTGTATCTGA 0.527000 40 118 0 0 0.859065 0 0 FAM76B 143684 broad.mit.edu 37 11 95522617 95522617 + Missense_Mutation SNP C C G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr11:95522617C>G ENST00000358780.5 - 1 338 c.26G>C c.(25-27)tGc>tCc p.C9S FAM76B_ENST00000536839.1_Missense_Mutation_p.C9S NM_144664.4 NP_653265.3 Q5HYJ3 FA76B_HUMAN family with sequence similarity 76, member B 9 breast(1)|kidney(1)|lung(1) 3 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ACACTTGGTGCAGGCGTACAG 0.711000 5 24 0 0 0.248553 0 0 AC024560.3 0 broad.mit.edu 37 3 197348646 197348646 + RNA SNP T T C rs138265355 by1000genomes TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr3:197348646T>C ENST00000418868.1 - 0 613 NR_003266.2 TGGGCCTGCCTGCCCTTTCCA 0.532000 6 107 0 0 0.278610 0 0 KIAA1522 57648 broad.mit.edu 37 1 33233411 33233411 + Missense_Mutation SNP A A G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr1:33233411A>G ENST00000401073.2 + 2 329 c.259A>G c.(259-261)Aaa>Gaa p.K87E KIAA1522_ENST00000294521.3_Missense_Mutation_p.K28E|KIAA1522_ENST00000373480.1_Missense_Mutation_p.K28E|KIAA1522_ENST00000373481.3_Missense_Mutation_p.K39E NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 28 breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TGAGAATGACAAACATCTAAG 0.602000 6 167 0 0 0.335167 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 3 39 0 0 0.115264 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457676 15457676 + Missense_Mutation SNP A A G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr16:15457676A>G ENST00000360151.4 - 8 892 c.893T>C c.(892-894)cTa>cCa p.L298P NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 CGCTGAGGGTAGAGCTGAGGG 0.562000 5 241 0 0 0.278610 0 0 DNMT1 1786 broad.mit.edu 37 19 10249155 10249155 + Missense_Mutation SNP C C T TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr19:10249155C>T ENST00000340748.4 - 34 4262 c.4027G>A c.(4027-4029)Gtg>Atg p.V1343M DNMT1_ENST00000540357.1_Missense_Mutation_p.V1343M|DNMT1_ENST00000359526.4_Missense_Mutation_p.V1359M P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 1343 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TCCACCACCACGCTCAGCTGG 0.642000 5 175 0 0 0.217242 0 0 GCC2 9648 broad.mit.edu 37 2 109087511 109087511 + Missense_Mutation SNP A A T TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr2:109087511A>T ENST00000309863.6 + 6 2440 c.1726A>T c.(1726-1728)Agt>Tgt p.S576C NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 576 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTTAGTCTCAGTCAAAGAGA 0.289000 14 15 0 0 0.479597 0 0 PALM2 114299 broad.mit.edu 37 9 112705375 112705375 + Silent SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr9:112705375G>A ENST00000448454.2 + 8 912 c.912G>A c.(910-912)ccG>ccA p.P304P PALM2_ENST00000374531.2_Silent_p.P270P|AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000483909.1_Silent_p.P268P|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000314527.4_Silent_p.P302P paralemmin 2 breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 18 CTGCAGGGCCGGAGGCAAACT 0.502000 3 58 0 0 0.115264 0 0 AMBN 258 broad.mit.edu 37 4 71465351 71465351 + Missense_Mutation SNP T T A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr4:71465351T>A ENST00000322937.6 + 5 385 c.282T>A c.(280-282)caT>caA p.H94Q AMBN_ENST00000449493.2_Missense_Mutation_p.H94Q NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 94 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) CAAGAGAACATGAAACTCAAC 0.383000 5 79 0 0 0.184627 0 0 AKT1 207 broad.mit.edu 37 14 105242100 105242100 + Silent SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr14:105242100G>A ENST00000554581.1 - 4 1804 c.324C>T c.(322-324)gaC>gaT p.D108D AKT1_ENST00000544168.1_Silent_p.D46D|AKT1_ENST00000554848.1_Silent_p.D108D|AKT1_ENST00000402615.2_Silent_p.D108D|AKT1_ENST00000349310.3_Silent_p.D108D|AKT1_ENST00000555528.1_Silent_p.D108D|AKT1_ENST00000407796.2_Silent_p.D108D P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 108 PH. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) TCTTGAGGCCGTCAGCCACAG 0.617000 1 Mis """breast, colorectal, ovarian, NSCLC""" 4 117 0 0 0.248553 0 0 ZNF211 0 broad.mit.edu 37 19 58153415 58153415 + Missense_Mutation SNP A A G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr19:58153415A>G ENST00000544273.1 + 5 1924 c.1597A>G c.(1597-1599)Agt>Ggt p.S533G ZNF211_ENST00000391703.3_Missense_Mutation_p.S460G|ZNF211_ENST00000347302.3_Missense_Mutation_p.S521G|ZNF211_ENST00000420680.1_Missense_Mutation_p.S525G|ZNF211_ENST00000254182.7_Missense_Mutation_p.S512G|ZNF211_ENST00000240731.4_Missense_Mutation_p.S534G|ZNF211_ENST00000541801.1_Missense_Mutation_p.S512G|ZNF211_ENST00000299871.5_Missense_Mutation_p.S586G Q13398 ZN211_HUMAN zinc finger protein 211 521 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTTTAGCCAAAGTTCTAGCCT 0.438000 6 156 0 0 0.248553 0 0 MID2 11043 broad.mit.edu 37 X 107167660 107167660 + Missense_Mutation SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chrX:107167660G>A ENST00000262843.6 + 8 2071 c.1523G>A c.(1522-1524)cGc>cAc p.R508H MID2_ENST00000443968.2_Missense_Mutation_p.R478H|RP6-191P20.4_ENST00000430140.1_RNA NM_012216.3|NM_052817.2 NP_036348.2|NP_438112.2 Q9UJV3 TRIM1_HUMAN midline 2 508 Fibronectin type-III. centrosome|microtubule ligase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2) 19 AGCGGGACTCGCTACATCTTC 0.458000 6 112 0 0 0.217242 0 0 CDKN1B 1027 broad.mit.edu 37 12 12874031 12874031 + Missense_Mutation SNP T T G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr12:12874031T>G ENST00000396340.1 + 2 526 c.508T>G c.(508-510)Tac>Gac p.Y170D CDKN1B_ENST00000477087.1_3'UTR|CDKN1B_ENST00000228872.4_3'UTR P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B (p27, Kip1) 0 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5) 13 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) AAGGAAGATATACATGAAAAT 0.318000 4 9 0 0 0.184627 0 0 NSD1 64324 broad.mit.edu 37 5 176636938 176636938 + Missense_Mutation SNP A A G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr5:176636938A>G ENST00000439151.2 + 5 1583 c.1538A>G c.(1537-1539)aAg>aGg p.K513R NSD1_ENST00000354179.4_Missense_Mutation_p.K244R|NSD1_ENST00000361032.4_Missense_Mutation_p.K410R|NSD1_ENST00000347982.4_Missense_Mutation_p.K244R NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 513 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AGTGTGAAAAAGGGCCACATA 0.423000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 3 87 0 0 0.115264 0 0 YME1L1 10730 broad.mit.edu 37 10 27420862 27420862 + Missense_Mutation SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr10:27420862G>A ENST00000326799.3 - 9 1103 c.955C>T c.(955-957)Cgg>Tgg p.R319W YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000375972.3_Missense_Mutation_p.R229W|YME1L1_ENST00000376016.3_Missense_Mutation_p.R262W NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 319 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 GTTGTTGTCCGGAAGCGGACT 0.368000 3 85 0 0 0.150653 0 0 HRAS 3265 broad.mit.edu 37 11 533875 533875 + Missense_Mutation SNP G G T rs28933406 TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr11:533875G>T ENST00000417302.1 - 3 368 c.181C>A c.(181-183)Cag>Aag p.Q61K HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61K(61)|p.Q61R(1)|p.Q61E(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TACTCCTCCTGGCCGGCGGTA 0.597000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 73 118 9.24773e-40 1.09513e-39 0.870114 1 0 CREB3L3 84699 broad.mit.edu 37 19 4157169 4157169 + Missense_Mutation SNP G G A rs145839480 byFrequency TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr19:4157169G>A ENST00000078445.2 + 3 481 c.334G>A c.(334-336)Ggc>Agc p.G112S CREB3L3_ENST00000602257.1_Missense_Mutation_p.G112S|CREB3L3_ENST00000602147.1_Missense_Mutation_p.G112S|CREB3L3_ENST00000595923.1_Missense_Mutation_p.G111S|CREB3L3_ENST00000252587.3_Missense_Mutation_p.G102S NM_001271995.1|NM_001271996.1|NM_032607.1 NP_001258924.1|NP_001258925.1|NP_115996.1 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 3 112 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3) 24 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCCCCGCCGGCTGCCATCC 0.657000 6 124 0 0 0.248553 0 0 KIF6 221458 broad.mit.edu 37 6 39512314 39512314 + Silent SNP C C G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr6:39512314C>G ENST00000538893.1 - 12 1467 c.1443G>C c.(1441-1443)gtG>gtC p.V481V KIF6_ENST00000373215.3_Intron|KIF6_ENST00000373216.3_Intron|KIF6_ENST00000373213.4_Intron|KIF6_ENST00000287152.7_Intron Q6ZMV9 KIF6_HUMAN kinesin family member 6 481 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 GTTTCTTCATCACTTCAGAAA 0.408000 4 49 0 0 0.184627 0 0 ZNF33B 7582 broad.mit.edu 37 10 43089114 43089114 + Silent SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr10:43089114G>A ENST00000359467.3 - 5 1398 c.1284C>T c.(1282-1284)ctC>ctT p.L428L ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 428 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 GATGTTTAGTGAGGTCAGATT 0.418000 65 96 0 0 0.870114 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212431 26212431 + Silent SNP G G T TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chrX:26212431G>T ENST00000379034.1 + 2 617 c.468G>T c.(466-468)tcG>tcT p.S156S NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 156 Ser-rich. p.S156S(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CCACTGGCTCGCCTGATGCAG 0.507000 4 76 0.150653 0.165351 0.150653 1 0 ZNF692 55657 broad.mit.edu 37 1 249151529 249151529 + Missense_Mutation SNP T T G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr1:249151529T>G ENST00000451251.1 - 4 739 c.394A>C c.(394-396)Agc>Cgc p.S132R ZNF692_ENST00000306601.4_Missense_Mutation_p.S127R|ZNF692_ENST00000366471.3_Missense_Mutation_p.S127R|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000366469.5_Missense_Mutation_p.S127R|ZNF692_ENST00000427146.1_Missense_Mutation_p.S127R NM_001136036.2 NP_001129508.1 Q9BU19 ZN692_HUMAN zinc finger protein 692 127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(6)|lung(7)|stomach(1) 17 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GGTGTAGGGCTCAAAGAGGGT 0.637000 54 81 0 0 0.870114 0 0 SPAG17 200162 broad.mit.edu 37 1 118565931 118565931 + Missense_Mutation SNP C C G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr1:118565931C>G ENST00000336338.5 - 28 4130 c.4065G>C c.(4063-4065)aaG>aaC p.K1355N NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1355 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) TGTTACCTTTCTTTGTGTTGG 0.363000 23 25 0 0 0.706142 0 0 NBPF10 100132406 broad.mit.edu 37 1 145327548 145327548 + Missense_Mutation SNP A A G TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e 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 2 10 0 0 0.115264 0 0 PDLIM7 9260 broad.mit.edu 37 5 176919616 176919616 + Silent SNP G G A TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr5:176919616G>A ENST00000355841.2 - 3 225 c.159C>T c.(157-159)atC>atT p.I53I PDLIM7_ENST00000359895.2_Silent_p.I53I|PDLIM7_ENST00000356618.4_Silent_p.I53I|PDLIM7_ENST00000355572.2_Silent_p.I53I|PDLIM7_ENST00000393551.1_Silent_p.I53I NM_005451.3 NP_005442.2 Q9NR12 PDLI7_HUMAN PDZ and LIM domain 7 (enigma) 53 PDZ. cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis cytoplasm|focal adhesion protein binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 10 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCTCGCCATCGATGCTCAGCA 0.652000 4 141 0 0 0.217242 0 0 RGPD2 729857 broad.mit.edu 37 2 88125234 88125234 + Silent SNP T T C TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr2:88125234T>C ENST00000398146.3 - 1 237 c.15A>G c.(13-15)aaA>aaG p.K5K RGPD2_ENST00000327544.6_5'UTR|RGPD2_ENST00000420840.2_Intron Q68DN6 RGPD1_HUMAN RANBP2-like and GRIP domain containing 2 0 intracellular transport binding breast(1)|pancreas(1) 2 CCCCGTAGGCTTTGCTGCGCC 0.667000 4 32 0 0 0.184627 0 0 TMEM52 339456 broad.mit.edu 37 1 1850628 1850636 + In_Frame_Del DEL AGCGGCAGG AGCGGCAGG - TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr1:1850628_1850636delAGCGGCAGG ENST00000310991.3 - 1 76_84 c.69_77delCCTGCCGCT c.(67-78)ctg>ct p.LLPL23del NM_178545.3 NP_848640.1 Q8NDY8 TMM52_HUMAN transmembrane protein 52 23 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCTgcggcagcggcaggagcggcagga 0.766 3 4 --- --- --- --- NEXN 91624 broad.mit.edu 37 1 78390884 78390887 + Frame_Shift_Del DEL AAAC AAAC - TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr1:78390884_78390887delAAAC ENST00000330010.8 + 5 564_567 c.267_270delAAAC c.(265-270)atfs p.IN89fs NEXN_ENST00000457030.1_Intron|NEXN_ENST00000334785.7_Frame_Shift_Del_p.IN153fs NM_001172309.1 NP_001165780.1 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 153 Glu-rich. regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) TTGAGGACATAAACAATACGGGAA 0.289 8 142 --- --- --- --- AC019118.2 0 broad.mit.edu 37 2 2910768 2910769 + RNA INS - - T rs142585959 by1000genomes TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr2:2910768_2910769insT ENST00000457478.1 - 0 594 tccaccccctctcccCAGCCCA 0.698 2 4 --- --- --- --- RP11-115D19.1 0 broad.mit.edu 37 4 90516654 90516655 + RNA DEL TG TG - TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr4:90516654_90516655delTG ENST00000508021.1 + 0 190 RP11-115D19.1_ENST00000506864.1_RNA|RP11-115D19.1_ENST00000512077.1_RNA|RP11-115D19.1_ENST00000509723.1_RNA cgtgtgtgtctgtgtgtgtgtg 0.361 2 4 --- --- --- --- RP11-238I10.1 0 broad.mit.edu 37 8 111630559 111630560 + RNA INS - - A rs13258806 by1000genomes TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr8:111630559_111630560insA ENST00000523264.1 + 0 66 cctcctcccccactcctctttc 0.510 2 4 --- --- --- --- PPTC7 160760 broad.mit.edu 37 12 111020740 111020742 + In_Frame_Del DEL CGC CGC - TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr12:111020740_111020742delCGC ENST00000354300.3 - 1 383_385 c.95_97delGCG c.(94-99)gac>g p.GD32del NM_139283.1 NP_644812.1 Q8NI37 PPTC7_HUMAN PTC7 protein phosphatase homolog (S. cerevisiae) 32 Gly-rich. metal ion binding|phosphoprotein phosphatase activity endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 9 AGTCCGTAGTcgccgccgccgcc 0.739 4 5 --- --- --- --- ZNF839 55778 broad.mit.edu 37 14 102807889 102807890 + Frame_Shift_Del DEL GG GG - TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr14:102807889_102807890delGG ENST00000262236.5 + 8 2170_2171 c.1815_1816delGG c.(1813-1818)catgfs p.QV605fs ZNF839_ENST00000442396.2_Frame_Shift_Del_p.QV719fs|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000559185.1_Frame_Shift_Del_p.QV603fs|ZNF839_ENST00000558850.1_Frame_Shift_Del_p.QV603fs NM_018335.4 NP_060805.3 A8K0R7 ZN839_HUMAN zinc finger protein 839 603 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 CCCAGGCACAGGTGGCAGCGTT 0.589 7 11 --- --- --- --- TMEM62 80021 broad.mit.edu 37 15 43446993 43446995 + In_Frame_Del DEL CAG CAG - TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr15:43446993_43446995delCAG ENST00000260403.2 + 9 1425_1427 c.1146_1148delCAG c.(1144-1149)tat>ta p.YS382del NM_024956.3 NP_079232.3 Q0P6H9 TMM62_HUMAN transmembrane protein 62 382 integral to membrane breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) CTAGAAACTACAGTAGTGGGACA 0.379 15 29 --- --- --- --- HERC1 8925 broad.mit.edu 37 15 63901361 63901361 + Frame_Shift_Del DEL G G - TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr15:63901361delG ENST00000443617.2 - 78 14592 c.14505delC c.(14503-14505)aafs p.N4836fs NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4836 HECT. protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 AGCGGCAGTTGTTGATGGCAT 0.602 20 24 --- --- --- --- RP11-307C19.2 0 broad.mit.edu 37 15 77868705 77868707 + RNA DEL AGG AGG - TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr15:77868705_77868707delAGG ENST00000561123.1 + 0 577 ggggaggagaaggaggaggaggg 0.601 2 4 --- --- --- --- CTD-2544M6.2 0 broad.mit.edu 37 15 98629747 98629749 + RNA DEL GAG GAG - TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr15:98629747_98629749delGAG ENST00000560195.1 - 0 478 CTD-2544M6.1_ENST00000560360.1_lincRNA ggaggaggaagaggaggaggagg 0.488 2 4 --- --- --- --- C16orf71 146562 broad.mit.edu 37 16 4787957 4787968 + In_Frame_Del DEL ACACAGAAGAGT ACACAGAAGAGT - TCGA-E3-A3DZ-01A-11D-A20C-08 TCGA-E3-A3DZ-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx b6984bfc-843f-455c-8ac6-2a07a54ec978 881caa69-f9c1-409d-aed1-2f1646c6828e g.chr16:4787957_4787968delACACAGAAGAGT ENST00000590191.1 + 3 556_567 c.286_297delACACAGAAGAGT c.(286-297)del p.TQKS96del RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000299320.5_Intron Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 92 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 GGTCTGTGGGACACAGAAGAGTATACGCCTGT 0.524 12 35 --- --- --- ---