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 AHNAK 79026 broad.mit.edu 37 11 62295869 62295869 + Missense_Mutation SNP A A T TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr11:62295869A>T ENST00000378024.4 - 5 6294 c.6020T>A c.(6019-6021)aTg>aAg p.M2007K AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2007 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AGACACATCCATATCCCCTTT 0.483000 5 353 0 0 1 0 0 COX15 1355 broad.mit.edu 37 10 101473220 101473220 + Missense_Mutation SNP T T C TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr10:101473220T>C ENST00000370483.5 - 9 1168 c.1118A>G c.(1117-1119)aAc>aGc p.N373S CUTC_ENST00000493385.1_Intron NM_004376.5|NM_078470.4 NP_004367.2|NP_510870.1 Q7KZN9 COX15_HUMAN cytochrome c oxidase assembly homolog 15 (yeast) 0 heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 13 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) aaaagtaaagttgaataagac 0.358000 10 37 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141092044 141092044 + Silent SNP T T C TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr2:141092044T>C ENST00000389484.3 - 79 13172 c.12201A>G c.(12199-12201)caA>caG p.Q4067Q NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4067 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTAAGTTCTTTTGTACTAAAA 0.398000 TSP Lung(27;0.18) 22 33 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14031583 14031583 + Missense_Mutation SNP C C A TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr19:14031583C>A ENST00000318003.7 + 14 1730 c.1489C>A c.(1489-1491)Cta>Ata p.L497I CC2D1A_ENST00000589606.1_Missense_Mutation_p.L497I NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 497 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GCTGGCCTTCCTAGAGGGCCG 0.647000 12 11 6.40141e-05 6.61479e-05 1 1 0 ZAN 7455 broad.mit.edu 37 7 100363053 100363053 + RNA SNP G G A TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr7:100363053G>A ENST00000542585.1 + 0 4494 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGATTCTCCGGCATGTTCTGC 0.617000 3 31 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140236490 140236490 + Missense_Mutation SNP C C T TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr5:140236490C>T ENST00000307360.5 + 1 857 c.857C>T c.(856-858)cCc>cTc p.P286L PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.P286L|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGGTCCCACCCACGATAAGA 0.358000 25 4 0 0 1 0 0 SMC6 79677 broad.mit.edu 37 2 17883154 17883154 + Missense_Mutation SNP G G A TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr2:17883154G>A ENST00000448223.2 - 20 2434 c.2165C>T c.(2164-2166)tCt>tTt p.S722F SMC6_ENST00000402989.1_Missense_Mutation_p.S722F|SMC6_ENST00000381272.4_Missense_Mutation_p.S748F|SMC6_ENST00000351948.4_Missense_Mutation_p.S722F NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 722 DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CCGAATTTCAGAAATATTTTT 0.249000 12 26 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55401054 55401054 + Missense_Mutation SNP G G A TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr19:55401054G>A ENST00000355524.3 + 5 699 c.689G>A c.(688-690)cGc>cAc p.R230H FCAR_ENST00000345937.4_Missense_Mutation_p.R134H|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000359272.4_Missense_Mutation_p.R218H|FCAR_ENST00000391724.3_Missense_Mutation_p.R196H|FCAR_ENST00000391723.3_Silent_p.P193P|FCAR_ENST00000353758.4_Missense_Mutation_p.R121H|FCAR_ENST00000391725.3_Missense_Mutation_p.R208H|FCAR_ENST00000391726.3_Missense_Mutation_p.R122H NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 230 immune response extracellular region|integral to plasma membrane IgA binding|receptor activity p.R230H(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) AACTTGATCCGCATGGCCGTG 0.532000 5 355 0 0 1 0 0 RFC5 5985 broad.mit.edu 37 12 118463630 118463630 + Missense_Mutation SNP G G T TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr12:118463630G>T ENST00000392542.2 + 8 1130 c.597G>T c.(595-597)ttG>ttT p.L199F RFC5_ENST00000229043.3_Missense_Mutation_p.L135F|RFC5_ENST00000454402.2_Missense_Mutation_p.L220F NM_181578.3 NP_853556.2 P40937 RFC5_HUMAN replication factor C (activator 1) 5, 36.5kDa 220 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGAACATTTTGCAGGTATGGT 0.418000 4 60 2.56e-06 2.73655e-06 1 1 0 XDH 7498 broad.mit.edu 37 2 31628832 31628832 + Splice_Site SNP T T C TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr2:31628832T>C ENST00000379416.3 - 2 91 c.e2-2 NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CTCCACCACCTATTAAAATAA 0.383000 17 40 0 0 1 0 0 PCED1A 64773 broad.mit.edu 37 20 2819277 2819277 + Missense_Mutation SNP C C T TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr20:2819277C>T ENST00000360652.2 - 5 1061 c.559G>A c.(559-561)Ggg>Agg p.G187R PCED1A_ENST00000356872.3_Missense_Mutation_p.G136R NM_022760.3 NP_073597.2 PC-esterase domain containing 1A ATACGTTCCCCGAGGGGCATC 0.577000 27 45 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109688235 109688235 + Missense_Mutation SNP A A G TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr9:109688235A>G ENST00000277225.5 + 3 2331 c.2042A>G c.(2041-2043)aAt>aGt p.N681S ZNF462_ENST00000457913.1_Missense_Mutation_p.N681S Q96JM2 ZN462_HUMAN zinc finger protein 462 681 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 AAGCTCGCCAATGACTTTCCT 0.448000 18 145 0 0 1 0 0 C1GALT1 56913 broad.mit.edu 37 7 7283232 7283232 + Silent SNP C C T TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr7:7283232C>T ENST00000436587.2 + 4 1189 c.966C>T c.(964-966)ctC>ctT p.L322L C1GALT1_ENST00000223122.2_Silent_p.L322L NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 322 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) TAGAATACCTCGTTTATCATC 0.353000 4 152 0 0 1 0 0 KRT14 3861 broad.mit.edu 37 17 39740077 39740077 + Missense_Mutation SNP G G A TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr17:39740077G>A ENST00000167586.6 - 4 948 c.862C>T c.(862-864)Cgt>Tgt p.R288C NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 288 Coil 2.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) TACTGGTCACGCATCTCGTTC 0.557000 4 123 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A A G rs112443847 TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr16:72821618A>G ENST00000268489.5 - 10 11229 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3519 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G3519G(3) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccaccgccgccgc 0.716000 3 27 0 0 1 0 0 PLP1 5354 broad.mit.edu 37 X 103040511 103040511 + Splice_Site SNP G G A TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chrX:103040511G>A ENST00000418604.1 + 3 285 c.4_splice c.e3-1 p.G2_splice PLP1_ENST00000303958.2_Splice_Site_p.G2_splice|PLP1_ENST00000361621.2_Splice_Site_p.G2_splice NM_001128834.1 NP_001122306.1 P60201 MYPR_HUMAN proteolipid protein 1 2 cell death|synaptic transmission integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 17 TCTTCCCCAGGCTTGTTAGAG 0.562000 65 19 0 0 1 0 0 COG2 22796 broad.mit.edu 37 1 230825896 230825896 + Missense_Mutation SNP A A G TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr1:230825896A>G ENST00000534989.1 + 16 2089 c.1754A>G c.(1753-1755)cAt>cGt p.H585R COG2_ENST00000546013.1_Missense_Mutation_p.H333R|COG2_ENST00000535166.1_Missense_Mutation_p.H528R|COG2_ENST00000366669.4_Missense_Mutation_p.H644R|COG2_ENST00000366668.3_Missense_Mutation_p.H643R Q14746 COG2_HUMAN component of oligomeric golgi complex 2 644 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GAAAGCACTCATAAGTAAGTA 0.473000 34 47 0 0 1 0 0 EVC 2121 broad.mit.edu 37 4 5720980 5720980 + Silent SNP C C T TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr4:5720980C>T ENST00000382674.2 + 2 364 c.180C>T c.(178-180)gaC>gaT p.D60D EVC_ENST00000509451.1_Silent_p.D60D|EVC_ENST00000264956.6_Silent_p.D60D P57679 EVC_HUMAN Ellis van Creveld syndrome 60 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) TTTAGAAAGACGACACTCAAA 0.522000 44 70 0 0 1 0 0 IPPK 64768 broad.mit.edu 37 9 95414857 95414857 + Missense_Mutation SNP G G C TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr9:95414857G>C ENST00000287996.3 - 4 566 c.290C>G c.(289-291)cCa>cGa p.P97R NM_022755.5 NP_073592.1 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 97 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1) 15 ACCCTTACCTGGTCTTTCAGA 0.313000 40 61 0 0 1 0 0 NCKAP1 10787 broad.mit.edu 37 2 183832016 183832016 + Missense_Mutation SNP A A G TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr2:183832016A>G ENST00000360982.2 - 17 2332 c.1574T>C c.(1573-1575)aTa>aCa p.I525T NCKAP1_ENST00000361354.3_Missense_Mutation_p.I519T NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 519 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) ATGAAAAATTATTGTATTCAT 0.333000 41 53 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907458 12907458 + Missense_Mutation SNP T T C TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr1:12907458T>C ENST00000317869.6 - 2 910 c.685A>G c.(685-687)Atg>Gtg p.M229V NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 TCTTTCTTCATGGAGCTACTG 0.458000 5 68 0 0 1 0 0 IGHV1OR15-9 390531 broad.mit.edu 37 15 20170029 20170029 + RNA SNP C C T rs144252881 by1000genomes TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr15:20170029C>T ENST00000338912.5 - 0 242 CCTGGAACTTCTGTGCATAGC 0.547000 4 162 0 0 1 0 0 ZNF629 23361 broad.mit.edu 37 16 30793592 30793592 + Missense_Mutation SNP T T C TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr16:30793592T>C ENST00000262525.4 - 3 2264 c.2057A>G c.(2056-2058)aAc>aGc p.N686S NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 686 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) GGGCTTTTCGTTGCCGTGGGT 0.572000 3 14 0 0 1 0 0 RSU1P2 100133308 broad.mit.edu 37 10 45602582 45602582 + RNA SNP T T C TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr10:45602582T>C ENST00000423875.1 - 0 854 ACCCAACCATTTGAGGTCTGA 0.443000 24 6 0 0 1 0 0 SOX13 9580 broad.mit.edu 37 1 204083473 204083473 + Frame_Shift_Del DEL G G - TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr1:204083473delG ENST00000367204.1 + 3 353 c.244delG c.(244-246)ggfs p.G82fs SOX13_ENST00000367203.4_3'UTR NM_005686.2 NP_005677.2 Q9UN79 SOX13_HUMAN SRY (sex determining region Y)-box 13 82 anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) AGAGGGTAATGGGTCCCCAGA 0.552 2 4 --- --- --- --- ANO10 55129 broad.mit.edu 37 3 43647213 43647213 + Frame_Shift_Del DEL T T - TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr3:43647213delT ENST00000292246.3 - 2 302 c.132delA c.(130-132)aafs p.K44fs ANO10_ENST00000350459.4_Frame_Shift_Del_p.K44fs|ANO10_ENST00000414522.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000396091.3_Frame_Shift_Del_p.K44fs NM_018075.3 NP_060545.3 Q9NW15 ANO10_HUMAN anoctamin 10 44 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 CACCTCCATCTTTTTTTTTAG 0.408 7 89 --- --- --- --- P4HTM 54681 broad.mit.edu 37 3 49027893 49027894 + Frame_Shift_Ins INS - - CA TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr3:49027893_49027894insCA ENST00000343546.4 + 1 572_573 c.204_205insCA c.(202-207)gtacctfs p.P69fs P4HTM_ENST00000383729.4_Frame_Shift_Ins_p.P69fs NM_177938.2 NP_808807.2 Q9NXG6 P4HTM_HUMAN prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 69 endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 Vitamin C(DB00126) TGGTGTTCGTGCACCTGTACCT 0.693 7 34 --- --- --- --- ZNF367 195828 broad.mit.edu 37 9 99180259 99180261 + In_Frame_Del DEL GGC GGC - TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr9:99180259_99180261delGGC ENST00000375256.4 - 1 350_352 c.54_56delGCC c.(52-57)ccc>cc p.PP18del NM_153695.3 NP_710162.1 Q7RTV3 ZN367_HUMAN zinc finger protein 367 18 Pro-rich. regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1) 12 Acute lymphoblastic leukemia(62;0.0167) GAAGATGACGggcggcggcggcg 0.749 2 4 --- --- --- --- HNRNPKP3 399881 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr11:43283606delA ENST00000511537.1 - 0 1329 NR_033868.1 AAGCAAATGTAAAAAAAAAAA 0.388 4 9 --- --- --- --- ADAMTS7 11173 broad.mit.edu 37 15 79058183 79058184 + Frame_Shift_Ins INS - - TGGGTCC TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr15:79058183_79058184insTGGGTCC ENST00000388820.4 - 19 4279_4280 c.4069_4070insGGACCCA c.(4069-4071)gggfs p.-1357fs NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 AGGCTGACCCTTGGGTCCTGGG 0.653 3 4 --- --- --- --- GRIN3B 116444 broad.mit.edu 37 19 1009186 1009188 + In_Frame_Del DEL AGC AGC - TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr19:1009186_1009188delAGC ENST00000234389.3 + 9 2736_2738 c.2717_2719delAGC c.(2716-2721)gag>g p.EQ906del NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 906 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) 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) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CCCGAGGTGGagcagcagcagca 0.744 2 4 --- --- --- --- MAN2B1 4125 broad.mit.edu 37 19 12758270 12758271 + Frame_Shift_Ins INS - - T TCGA-QR-A6H1-01A-11D-A35D-08 TCGA-QR-A6H1-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 48af468f-3639-463b-ac97-9ce3032a965e a3f547ad-3e04-4448-93c7-458be8e87b22 g.chr19:12758270_12758271insT ENST00000456935.2 - 22 2846_2847 c.2806_2807insA c.(2806-2808)cttfs p.L936fs MAN2B1_ENST00000221363.4_Frame_Shift_Ins_p.L935fs|CTD-2192J16.22_ENST00000597692.1_Frame_Shift_Ins_p.S122fs NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 936 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CAAGTTCAAGGTAACGGGGGCG 0.579 52 80 --- --- --- ---