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 GPX1 2876 broad.mit.edu 37 3 49395586 49395586 + Silent SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr3:49395586G>T ENST00000419783.1 - 1 447 c.126C>A c.(124-126)atC>atA p.I42I GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Silent_p.I42I NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 42 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CCACATTCTCGATAAGTAGTA 0.711000 2 2 0.0016 0.00168312 1 1 0 CCNE2 9134 broad.mit.edu 37 8 95893865 95893865 + Missense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr8:95893865G>A ENST00000520509.1 - 12 1462 c.1210C>T c.(1210-1212)Cac>Tac p.H404Y INTS8_ENST00000523731.1_3'UTR|CCNE2_ENST00000308108.4_Missense_Mutation_p.H404Y|CCNE2_ENST00000396133.3_3'UTR O96020 CCNE2_HUMAN cyclin E2 404 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) CTTCTTTAGTGTTTTCCTGGT 0.398000 30 102 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67031860 67031860 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr17:67031860C>T ENST00000340001.4 - 7 1094 c.883G>A c.(883-885)Gtc>Atc p.V295I ABCA9_ENST00000453985.2_Missense_Mutation_p.V295I|ABCA9_ENST00000370732.2_Missense_Mutation_p.V295I NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 295 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) GTCAGGACGACAATTTGTGCA 0.413000 3 33 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 120996311 120996311 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr11:120996311G>T ENST00000392793.1 + 8 1775 c.1504G>T c.(1504-1506)Ggc>Tgc p.G502C TECTA_ENST00000264037.2_Missense_Mutation_p.G502C O75443 TECTA_HUMAN tectorin alpha 502 VWFD 1. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GTGCGACTCCGGCTGCGTCGA 0.617000 34 57 2.81731e-10 3.72069e-10 1 1 0 SDHAP1 255812 broad.mit.edu 37 3 195711016 195711016 + RNA SNP G G A rs79282413 by1000genomes TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr3:195711016G>A ENST00000427841.1 - 0 716 NR_003264.2 TTGAGTGGCCGGTCCGATCAG 0.592000 8 35 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70841627 70841627 + Missense_Mutation SNP G G C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr16:70841627G>C ENST00000393567.2 - 86 15372 c.15222C>G c.(15220-15222)atC>atG p.I5074M NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 5074 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGATGTTGTTGATCTTCTTGG 0.522000 6 64 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1027302 1027302 + Missense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr11:1027302C>A ENST00000421673.2 - 17 2247 c.2197G>T c.(2197-2199)Gcc>Tcc p.A733S NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 733 maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GACTGCTCGGCCAGGATGAAC 0.652000 15 82 1.49906e-05 1.76831e-05 1 1 0 ZAN 7455 broad.mit.edu 37 7 100386861 100386861 + RNA SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr7:100386861G>A ENST00000542585.1 + 0 7394 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_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) GAAGATGGCCGTCCCCTACAG 0.567000 7 34 0 0 1 0 0 OR10X1 128367 broad.mit.edu 37 1 158548909 158548909 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:158548909G>T ENST00000368150.1 - 1 780 c.781C>A c.(781-783)Ctc>Atc p.L261I NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) ACCACGGTGAGGTGGGAGGCA 0.468000 54 103 3.50607e-19 4.92471e-19 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139397720 139397720 + Missense_Mutation SNP T T C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr9:139397720T>C ENST00000277541.6 - 27 5156 c.5081A>G c.(5080-5082)cAg>cGg p.Q1694R NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1694 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGTGGCACTCTGGAAGCACTG 0.642000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 6 15 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283412 152283412 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:152283412G>T ENST00000368799.1 - 3 3985 c.3950C>A c.(3949-3951)gCc>gAc p.A1317D FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1317 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCGTGACTGGCTCTGTCTTC 0.537000 Ichthyosis 38 290 9.45814e-24 1.34405e-23 1 1 0 SNAI2 6591 broad.mit.edu 37 8 49832545 49832545 + Missense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr8:49832545G>A ENST00000396822.1 - 3 892 c.535C>T c.(535-537)Cgg>Tgg p.R179W SNAI2_ENST00000020945.1_Missense_Mutation_p.R179W O43623 SNAI2_HUMAN snail family zinc finger 2 179 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1) 18 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) GTGTGGGTCCGAATATGCATC 0.478000 10 89 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3677911 3677911 + Missense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:3677911G>A ENST00000294600.2 + 5 862 c.778G>A c.(778-780)Gag>Aag p.E260K NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 260 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) GCTGCTCCAGGAGGAGAGGGA 0.597000 6 34 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149514997 149514997 + RNA SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr7:149514997C>A ENST00000378016.2 + 0 11387 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) AGCTCGTGTGCACACGGGAAG 0.672000 7 32 8.12818e-05 9.31674e-05 1 1 0 IGKV1-9 28941 broad.mit.edu 37 2 89309693 89309693 + RNA SNP C C G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:89309693C>G ENST00000493819.1 - 0 194 CTGACTGGCCCGGCAAGTGAT 0.493000 26 172 0 0 1 0 0 SYT1 6857 broad.mit.edu 37 12 79842860 79842860 + Nonsense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr12:79842860C>T ENST00000261205.4 + 11 1882 c.1225C>T c.(1225-1227)Cag>Tag p.Q409* SYT1_ENST00000552744.1_Nonsense_Mutation_p.Q409*|SYT1_ENST00000457153.2_Nonsense_Mutation_p.Q406*|SYT1_ENST00000393240.3_Nonsense_Mutation_p.Q409*|RP1-78O14.1_ENST00000550268.1_lincRNA NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 409 detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 GCACACCCTGCAGGTAGAGGA 0.542000 9 15 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24484500 24484500 + Missense_Mutation SNP T T C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:24484500T>C ENST00000355123.4 - 21 2910 c.2467A>G c.(2467-2469)Aaa>Gaa p.K823E ITSN2_ENST00000406921.3_Missense_Mutation_p.K823E|ITSN2_ENST00000361999.3_Missense_Mutation_p.K796E NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 823 KAVSPK -> FAAAST (in Ref. 6; AAD00899). endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATACAGCTTTTTCATTTTCA 0.368000 11 45 0 0 1 0 0 APEX2 27301 broad.mit.edu 37 X 55033449 55033449 + Nonsense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:55033449C>T ENST00000374987.3 + 6 1204 c.1138C>T c.(1138-1140)Cag>Tag p.Q380* NM_014481.2 NP_055296.2 Q9UBZ4 APEX2_HUMAN APEX nuclease (apurinic/apyrimidinic endonuclease) 2 380 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1) 21 AACCAGGCCTCAGCCCAGTCA 0.557000 Other BER factors 4 22 0 0 1 0 0 ZNF474 133923 broad.mit.edu 37 5 121487999 121487999 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr5:121487999G>T ENST00000296600.4 + 2 697 c.314G>T c.(313-315)gGg>gTg p.G105V ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA NM_207317.1 NP_997200.1 Q6S9Z5 ZN474_HUMAN zinc finger protein 474 105 intracellular zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1) 21 all_cancers(142;0.229)|Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415) CGAGAATTTGGGTCCCAGTCA 0.512000 11 60 9.70103e-10 1.26739e-09 1 1 0 FCRLB 127943 broad.mit.edu 37 1 161693218 161693218 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:161693218G>T ENST00000367948.2 + 5 329 c.114G>T c.(112-114)gaG>gaT p.E38D FCRLB_ENST00000392158.1_Missense_Mutation_p.E38D|FCRLB_ENST00000367944.3_Missense_Mutation_p.E31D|FCRLB_ENST00000367945.1_Missense_Mutation_p.E31D|FCRLB_ENST00000336830.5_Missense_Mutation_p.E38D|FCRLB_ENST00000367946.3_Missense_Mutation_p.E38D Q6BAA4 FCRLB_HUMAN Fc receptor-like B 38 Ig-like C2-type 1. endoplasmic reticulum central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1) 17 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) TCAAAGGGGAGCGGGTAACTT 0.557000 26 104 3.73148e-12 4.98214e-12 1 1 0 CSMD1 64478 broad.mit.edu 37 8 2820134 2820134 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr8:2820134G>T ENST00000520002.1 - 62 10040 c.9485C>A c.(9484-9486)cCc>cAc p.P3162H CSMD1_ENST00000542608.1_Missense_Mutation_p.P2984H|CSMD1_ENST00000537824.1_Missense_Mutation_p.P3161H|CSMD1_ENST00000602723.1_Missense_Mutation_p.P2985H|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2985H|CSMD1_ENST00000602557.1_Missense_Mutation_p.P3162H Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3162 Sushi 26. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCCTTCTGCGGGGATGCCAGG 0.493000 3 15 0.00024832 0.000275533 1 1 0 TDP1 55775 broad.mit.edu 37 14 90429666 90429666 + Missense_Mutation SNP T T A rs140058160 TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr14:90429666T>A ENST00000335725.4 + 3 458 c.208T>A c.(208-210)Tca>Aca p.S70T TDP1_ENST00000555880.1_Missense_Mutation_p.S70T|TDP1_ENST00000393454.2_Missense_Mutation_p.S70T|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393452.3_Missense_Mutation_p.S70T|TDP1_ENST00000555565.1_Intron NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 70 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) CAATACAGATTCAGTTTTACC 0.512000 Repair of DNA-protein crosslinks 5 88 0 0 1 0 0 RASGRP4 115727 broad.mit.edu 37 19 38901812 38901812 + Missense_Mutation SNP C C T rs142842646 by1000genomes TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr19:38901812C>T ENST00000454404.2 - 15 1906 c.1693G>A c.(1693-1695)Gat>Aat p.D565N RASGRP4_ENST00000587738.1_Missense_Mutation_p.D599N|RASGRP4_ENST00000433821.2_Missense_Mutation_p.D507N|RASGRP4_ENST00000586305.1_Missense_Mutation_p.D585N|RASGRP4_ENST00000587753.1_Missense_Mutation_p.D530N|RASGRP4_ENST00000293062.9_Missense_Mutation_p.D502N|RASGRP4_ENST00000426920.2_Missense_Mutation_p.D410N NM_001146205.1|NM_170604.2 NP_001139677.1|NP_733749.1 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 599 activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGTCCTGCATCGCCCTTGGCC 0.642000 6 17 0 0 1 0 0 SELL 6402 broad.mit.edu 37 1 169677770 169677770 + Missense_Mutation SNP T T C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:169677770T>C ENST00000236147.4 - 3 459 c.299A>G c.(298-300)tAc>tGc p.Y100C SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 87 C-type lectin. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) TCCTATCCAGTAGTAAGAACG 0.453000 9 17 0 0 1 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869182 22869182 + Missense_Mutation SNP A A G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr22:22869182A>G ENST00000302097.3 - 2 1025 c.773T>C c.(772-774)cTa>cCa p.L258P NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 258 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TTGACTTGCTAGACTTGAAAT 0.428000 22 60 0 0 1 0 0 DOCK1 1793 broad.mit.edu 37 10 128923778 128923778 + Silent SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr10:128923778C>T ENST00000280333.6 + 26 2710 c.2601C>T c.(2599-2601)ctC>ctT p.L867L NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 867 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CCGATCAGCTCAAGTACCATC 0.552000 4 13 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237620035 237620035 + Splice_Site SNP G G C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:237620035G>C ENST00000366574.2 + 16 1929 c.1612_splice c.e16+1 p.A538_splice RYR2_ENST00000360064.6_Splice_Site_p.A536_splice|RYR2_ENST00000542537.1_Splice_Site_p.A522_splice NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 538 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGAGTTGCTGGGTAAGAAGCA 0.433000 17 49 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TTGAAACAGCTGGTGTATTAA 0.373000 3 11 0 0 1 0 0 OR13C2 392376 broad.mit.edu 37 9 107367176 107367176 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr9:107367176G>T ENST00000542196.1 - 1 775 c.733C>A c.(733-735)Ctg>Atg p.L245M NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 ACCACAGTCAGATGGGCTGAA 0.418000 18 48 1.99824e-07 2.50295e-07 1 1 0 ATXN7 6314 broad.mit.edu 37 3 63981969 63981969 + Missense_Mutation SNP A A T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr3:63981969A>T ENST00000398590.3 + 12 3024 c.2471A>T c.(2470-2472)cAc>cTc p.H824L ATXN7_ENST00000538065.1_Missense_Mutation_p.H824L|ATXN7_ENST00000487717.1_Missense_Mutation_p.H824L|ATXN7_ENST00000484332.1_Missense_Mutation_p.H679L|ATXN7_ENST00000295900.6_Missense_Mutation_p.H824L NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 824 Ser-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) AGTTTTTCCCACTCACACACT 0.483000 3 29 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43484530 43484530 + Nonsense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr7:43484530G>T ENST00000395891.1 + 11 2364 c.1759G>T c.(1759-1761)Gag>Tag p.E587* HECW1_ENST00000453890.1_Nonsense_Mutation_p.E587* NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 587 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CGGCGCGGAGGAGGAGTCCAC 0.682000 9 20 0.00448238 0.00463497 1 1 0 NPR3 4883 broad.mit.edu 37 5 32780880 32780880 + Missense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr5:32780880C>A ENST00000265074.8 + 5 1591 c.1248C>A c.(1246-1248)ttC>ttA p.F416L NPR3_ENST00000434067.2_Missense_Mutation_p.F200L|NPR3_ENST00000415167.2_Missense_Mutation_p.F416L|NPR3_ENST00000415685.2_Missense_Mutation_p.F200L NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 416 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) ATGGGGATTTCTCTGTGATTG 0.542000 22 100 3.28513e-13 4.43492e-13 1 1 0 IGHV1-69 28461 broad.mit.edu 37 14 107170347 107170347 + RNA SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr14:107170347G>T ENST00000390633.2 - 0 81 CCACAAAGAGGAACCTCCAGG 0.507000 10 46 7.48243e-07 9.18298e-07 1 1 0 FAM47C 442444 broad.mit.edu 37 X 37028667 37028667 + Silent SNP G G A rs149639130 TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:37028667G>A ENST00000358047.3 + 1 2236 c.2184G>A c.(2182-2184)ccG>ccA p.P728P NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 728 p.P728P(1) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 ATCTCTGCCCGGAGCCTCCTG 0.627000 33 66 0 0 1 0 0 HNRNPA1L2 144983 broad.mit.edu 37 13 53217555 53217555 + Missense_Mutation SNP A A T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr13:53217555A>T ENST00000342657.3 + 7 2001 c.928A>T c.(928-930)Agc>Tgc p.S310C HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.S310C|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.S310C NM_001011724.1 NP_001011724.1 Q32P51 RA1L2_HUMAN heterogeneous nuclear ribonucleoprotein A1-like 2 310 Gly-rich. mRNA processing|mRNA transport|RNA splicing cytoplasm|spliceosomal complex nucleotide binding|RNA binding cervix(1)|large_intestine(1)|lung(5) 7 CGTTTCCAGCAGCAGCAGTAG 0.498000 10 30 0 0 1 0 0 ILF2 3608 broad.mit.edu 37 1 153636927 153636927 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:153636927C>T ENST00000361891.4 - 9 726 c.601G>A c.(601-603)Gcc>Acc p.A201T ILF2_ENST00000480213.1_5'UTR NM_001267809.1|NM_004515.3 NP_001254738.1|NP_004506.2 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 201 DZF. immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity cervix(1)|kidney(1)|lung(4)|skin(1) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GCTGCTAAGGCACTCTGCAAT 0.408000 8 67 0 0 1 0 0 ECE1 1889 broad.mit.edu 37 1 21585237 21585237 + Silent SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:21585237G>A ENST00000415912.2 - 6 788 c.663C>T c.(661-663)ttC>ttT p.F221F ECE1_ENST00000374893.6_Silent_p.F237F|ECE1_ENST00000357071.4_Silent_p.F225F|ECE1_ENST00000264205.6_Silent_p.F234F|ECE1_ENST00000436918.2_Silent_p.F237F NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 237 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) CATAGACAGAGAAGAAGGGTG 0.602000 11 45 0 0 1 0 0 PXT1 222659 broad.mit.edu 37 6 36368312 36368312 + Silent SNP A A G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr6:36368312A>G ENST00000454782.2 - 4 702 c.219T>C c.(217-219)caT>caC p.H73H NM_152990.3 NP_694535.2 Q8NFP0 PXT1_HUMAN peroxisomal, testis specific 1 0 peroxisome CCTCCTGGTGATGCTTCTGAA 0.423000 30 36 0 0 1 0 0 SNX11 29916 broad.mit.edu 37 17 46196133 46196133 + Nonsense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr17:46196133C>T ENST00000393405.2 + 6 652 c.298C>T c.(298-300)Cga>Tga p.R100* SNX11_ENST00000582104.1_Nonsense_Mutation_p.R92*|SNX11_ENST00000452859.2_5'UTR|SNX11_ENST00000578861.1_3'UTR|SNX11_ENST00000439357.2_Nonsense_Mutation_p.R39*|SNX11_ENST00000359238.2_Nonsense_Mutation_p.R100*|SNX11_ENST00000580219.1_Nonsense_Mutation_p.R92* NM_152244.1 NP_689450.1 Q9Y5W9 SNX11_HUMAN sorting nexin 11 100 PX. cell communication|protein transport membrane phosphatidylinositol binding breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 14 TGAGAAGCGACGACAAGGTCT 0.537000 11 50 0 0 1 0 0 PEX26 55670 broad.mit.edu 37 22 18561350 18561350 + Missense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr22:18561350G>A ENST00000329627.6 + 2 414 c.208G>A c.(208-210)Gtg>Atg p.V70M PEX26_ENST00000428061.2_Missense_Mutation_p.V70M|PEX26_ENST00000399744.3_Missense_Mutation_p.V70M NM_017929.5 NP_060399.1 Q7Z412 PEX26_HUMAN peroxisomal biogenesis factor 26 70 protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 CAACCACGCCGTGGCAGAGGA 0.667000 5 6 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89386810 89386810 + Missense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr15:89386810G>A ENST00000439576.2 + 6 1356 c.982G>A c.(982-984)Gtc>Atc p.V328I ACAN_ENST00000352105.7_Missense_Mutation_p.V328I|ACAN_ENST00000558207.1_Missense_Mutation_p.V328I|ACAN_ENST00000561243.1_Missense_Mutation_p.V328I|ACAN_ENST00000559004.1_Missense_Mutation_p.V328I NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 328 cell adhesion hyaluronic acid binding|sugar binding p.V328I(4) NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CGTGAGGACCGTCTACGTGCA 0.682000 9 31 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123268929 123268929 + Missense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr4:123268929G>A ENST00000264501.4 + 76 13497 c.13124G>A c.(13123-13125)cGa>cAa p.R4375Q KIAA1109_ENST00000388738.3_Missense_Mutation_p.R4375Q Q2LD37 K1109_HUMAN KIAA1109 4375 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus p.R4375Q(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TCAGTTCCTCGAAGAGGTAAC 0.413000 6 62 0 0 1 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243542085 243542085 + Silent SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:243542085G>A ENST00000366541.3 + 13 1654 c.1536G>A c.(1534-1536)caG>caA p.Q512Q SDCCAG8_ENST00000355875.4_Silent_p.Q469Q|SDCCAG8_ENST00000343783.6_Silent_p.Q367Q NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 512 Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) AGGAGCAGCAGAAGGCAGCCC 0.468000 4 48 0 0 1 0 0 RPIA 22934 broad.mit.edu 37 2 88991235 88991235 + Missense_Mutation SNP T T C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:88991235T>C ENST00000283646.4 + 1 74 c.19T>C c.(19-21)Ttc>Ctc p.F7L NM_144563.2 NP_653164.2 P49247 RPIA_HUMAN ribose 5-phosphate isomerase A 7 pentose-phosphate shunt, non-oxidative branch cytosol ribose-5-phosphate isomerase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287) CCCCGGGCCCTTCAGCACCCT 0.746000 3 11 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160033878 160033878 + Silent SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr5:160033878C>T ENST00000327245.5 - 19 3900 c.3054G>A c.(3052-3054)ttG>ttA p.L1018L NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1018 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AATACTGGGTCAATTCCAGAA 0.512000 16 65 0 0 1 0 0 SNX14 57231 broad.mit.edu 37 6 86239966 86239966 + Missense_Mutation SNP A A G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr6:86239966A>G ENST00000314673.3 - 19 2014 c.1838T>C c.(1837-1839)gTc>gCc p.V613A SNX14_ENST00000346348.3_Missense_Mutation_p.V560A|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000505648.1_Missense_Mutation_p.V561A|SNX14_ENST00000369627.2_Missense_Mutation_p.V604A NM_153816.3 NP_722523.1 Q9Y5W7 SNX14_HUMAN sorting nexin 14 613 PX. cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1) 22 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) TCTTCTATAGACAGACCAATG 0.303000 8 13 0 0 1 0 0 YY2 404281 broad.mit.edu 37 X 21875276 21875276 + Missense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:21875276C>A ENST00000429584.2 + 1 1172 c.674C>A c.(673-675)cCa>cAa p.P225Q MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 GGGGGGTTACCAGGCATTGAT 0.478000 44 159 5.78141e-17 8.02791e-17 1 1 0 THAP7-AS1 439931 broad.mit.edu 37 22 21363392 21363392 + RNA SNP G G A rs28522842 by1000genomes TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr22:21363392G>A ENST00000452284.1 + 0 1059 THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA NR_027051.1 GGGCCCCATCGAATCACAGGG 0.562000 5 56 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209791930 209791930 + Missense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:209791930C>A ENST00000391911.1 - 18 3165 c.2776G>T c.(2776-2778)Gct>Tct p.A926S LAMB3_ENST00000356082.4_Missense_Mutation_p.A926S|LAMB3_ENST00000367030.3_Missense_Mutation_p.A926S NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 926 Domain I. A -> D (in dbSNP:rs2076222). cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) AGAACAGTAGCTGAGTCTGTG 0.587000 10 49 1.58986e-06 1.91256e-06 1 1 0 RYR3 6263 broad.mit.edu 37 15 34078181 34078181 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr15:34078181C>T ENST00000389232.4 + 66 9657 c.9587C>T c.(9586-9588)gCa>gTa p.A3196V RYR3_ENST00000415757.3_Missense_Mutation_p.A3196V NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3196 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AAGCGCATTGCAGGTACCGAC 0.488000 19 69 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140265375 140265375 + Silent SNP A A G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr4:140265375A>G ENST00000296543.5 + 6 896 c.573A>G c.(571-573)gaA>gaG p.E191E NAA15_ENST00000398947.1_Silent_p.E191E|NAA15_ENST00000480277.2_3'UTR NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 191 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 AATATAGTGAACTACTCTTAT 0.338000 14 22 0 0 1 0 0 SLC32A1 140679 broad.mit.edu 37 20 37357055 37357055 + Missense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr20:37357055C>A ENST00000217420.1 + 2 1614 c.1351C>A c.(1351-1353)Ccg>Acg p.P451T NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 451 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CATTTATGTGCCGCACTTCGC 0.672000 10 26 1.58986e-06 1.91256e-06 1 1 0 FLNA 2316 broad.mit.edu 37 X 153589730 153589730 + Silent SNP G G C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:153589730G>C ENST00000422373.1 - 21 3401 c.3153C>G c.(3151-3153)ccC>ccG p.P1051P FLNA_ENST00000369850.3_Silent_p.P1051P|FLNA_ENST00000344736.4_Silent_p.P1051P|FLNA_ENST00000360319.4_Silent_p.P1051P NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1051 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCCAGGCACGGGCACGCCGT 0.632000 16 40 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39052023 39052023 + Missense_Mutation SNP G G A rs151119428 TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr19:39052023G>A ENST00000355481.4 + 89 12669 c.12538G>A c.(12538-12540)Gcg>Acg p.A4180T RYR1_ENST00000359596.3_Missense_Mutation_p.A4185T|RYR1_ENST00000360985.3_Missense_Mutation_p.A4180T NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4185 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GATCATGGGCGCGTCACGCCG 0.647000 4 63 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3239348 3239348 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:3239348G>T ENST00000217939.6 - 5 4532 c.4378C>A c.(4378-4380)Ctt>Att p.L1460I NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1460 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TCTTGATCAAGGGTGGTGGTT 0.493000 16 33 2.32078e-09 2.99974e-09 1 1 0 USH2A 7399 broad.mit.edu 37 1 216062281 216062281 + Silent SNP T T C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:216062281T>C ENST00000366943.2 - 41 8096 c.7710A>G c.(7708-7710)ctA>ctG p.L2570L RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Silent_p.L2570L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2570 Fibronectin type-III 12. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GACGGCCATGTAGATAAATGT 0.418000 HNSCC(13;0.011) 47 70 0 0 1 0 0 STAP1 26228 broad.mit.edu 37 4 68459006 68459006 + Missense_Mutation SNP T T C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr4:68459006T>C ENST00000265404.2 + 8 840 c.758T>C c.(757-759)aTt>aCt p.I253T STAP1_ENST00000396225.1_Missense_Mutation_p.I253T NM_012108.2 NP_036240.1 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 253 SH2. cellular membrane fusion|intracellular protein transport cytoplasm NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 TTCAGTGTCATTGATTATTTT 0.368000 14 33 0 0 1 0 0 TEX13A 56157 broad.mit.edu 37 X 104464707 104464707 + Silent SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:104464707C>T ENST00000372578.3 - 2 486 c.375G>A c.(373-375)gcG>gcA p.A125A TEX13A_ENST00000413579.1_Silent_p.A125A|IL1RAPL2_ENST00000372582.1_Intron|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Silent_p.A125A NM_031274.3 NP_112564.1 Q9BXU3 TX13A_HUMAN testis expressed 13A 125 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 GCCGGGAGGCCGCCTCCTTGC 0.592000 13 31 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10358986 10358986 + Missense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr17:10358986G>A ENST00000255381.2 - 19 2229 c.2119C>T c.(2119-2121)Cgc>Tgc p.R707C CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 707 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CTGCAGATGCGGATGCCTTCC 0.468000 4 27 0 0 1 0 0 RAG1 5896 broad.mit.edu 37 11 36595843 36595843 + Missense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr11:36595843C>A ENST00000299440.5 + 2 1101 c.989C>A c.(988-990)tCt>tAt p.S330Y NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 330 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) TATTGTCCCTCTTGCCGATAT 0.502000 Familial Hemophagocytic Lymphohistiocytosis 9 35 7.48243e-07 9.18298e-07 1 1 0 SPEG 10290 broad.mit.edu 37 2 220354242 220354242 + Silent SNP G G T rs148685205 by1000genomes TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:220354242G>T ENST00000312358.7 + 36 8634 c.8502G>T c.(8500-8502)tcG>tcT p.S2834S SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2834 Pro-rich. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CCTTGTCCTCGCTCAAGGCTG 0.682000 26 59 2.44723e-14 3.34088e-14 1 1 0 ARHGAP6 395 broad.mit.edu 37 X 11157246 11157246 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:11157246C>T ENST00000337414.4 - 13 3534 c.2662G>A c.(2662-2664)Ggg>Agg p.G888R ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.G685R|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.G685R NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 888 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GCGGGCTTCCCTGGGCCCGGG 0.716000 6 7 0 0 1 0 0 ACE2 59272 broad.mit.edu 37 X 15613018 15613018 + Missense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:15613018C>A ENST00000427411.1 - 3 511 c.295G>T c.(295-297)Gct>Tct p.A99S ACE2_ENST00000252519.3_Missense_Mutation_p.A99S NM_021804.2 NP_068576.1 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 99 angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 32 Hepatocellular(33;0.183) Moexipril(DB00691) TGCTGAAGAGCCTGCAGCTGA 0.433000 42 146 7.63091e-17 1.05359e-16 1 1 0 VPS13C 54832 broad.mit.edu 37 15 62146658 62146658 + Nonstop_Mutation SNP A A C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr15:62146658A>C ENST00000261517.5 - 85 11333 c.11260T>G c.(11260-11262)Taa>Gaa p.*3754E VPS13C_ENST00000249837.3_Nonstop_Mutation_p.*3711E NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 0 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 GTCTGTGATTAAGATGGCAAT 0.428000 15 90 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995296 140995296 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:140995296G>T ENST00000285879.4 + 4 2392 c.2106G>T c.(2104-2106)gaG>gaT p.E702D MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 702 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTGAGGGAGAGGACTCCCTGT 0.562000 HNSCC(15;0.026) 14 102 9.31168e-06 1.10919e-05 1 1 0 VNN3 55350 broad.mit.edu 37 6 133048145 133048145 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr6:133048145G>T ENST00000367927.5 - 4 616 c.544C>A c.(544-546)Ctt>Att p.L182I VNN3_ENST00000509351.1_Intron|VNN3_ENST00000519686.2_Intron|VNN3_ENST00000414302.2_Silent_p.I117I|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000450865.2_Intron|VNN3_ENST00000392393.3_Intron|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000275223.3_Intron|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000207771.3_Missense_Mutation_p.L182I vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) GGTGCAAAAAGATTGTACTGT 0.343000 5 8 0.014758 0.0151957 1 1 0 KIAA1024 23251 broad.mit.edu 37 15 79760631 79760631 + Missense_Mutation SNP C C G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr15:79760631C>G ENST00000305428.3 + 4 2731 c.2656C>G c.(2656-2658)Cga>Gga p.R886G NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 886 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 CGAATTCAGACGAGCCAAGGT 0.433000 7 26 0 0 1 0 0 LCE1E 353135 broad.mit.edu 37 1 152759953 152759953 + Missense_Mutation SNP T T A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:152759953T>A ENST00000368770.3 + 2 231 c.178T>A c.(178-180)Tgt>Agt p.C60S LCE1E_ENST00000368771.1_Missense_Mutation_p.C60S NM_178353.1 NP_848130.1 Q5T753 LCE1E_HUMAN late cornified envelope 1E 60 Cys-rich. keratinization lung(5)|stomach(1) 6 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGGGGGCAGCTGTGGCTCCAG 0.662000 35 57 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34003675 34003675 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr6:34003675G>T ENST00000374181.3 - 8 2381 c.2212C>A c.(2212-2214)Cgc>Agc p.R738S GRM4_ENST00000538487.1_Missense_Mutation_p.R738S|GRM4_ENST00000374177.3_Missense_Mutation_p.R622S|GRM4_ENST00000535756.1_Missense_Mutation_p.R605S|GRM4_ENST00000545715.1_Missense_Mutation_p.R430S|GRM4_ENST00000455714.2_Missense_Mutation_p.R598S|GRM4_ENST00000544773.1_Missense_Mutation_p.R569S NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 738 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.R738C(2)|p.R622C(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CTGGCGAAGCGGGGGTCGAGT 0.622000 14 29 1.5842e-08 2.0155e-08 1 1 0 FGD5 152273 broad.mit.edu 37 3 14863095 14863095 + Missense_Mutation SNP C C G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr3:14863095C>G ENST00000285046.5 + 1 2627 c.2517C>G c.(2515-2517)gaC>gaG p.D839E FGD5_ENST00000543601.1_Missense_Mutation_p.D598E NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 839 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CAGACCAGGACGCAGAAAGGT 0.527000 9 13 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36207798 36207798 + Missense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr14:36207798G>A ENST00000258840.6 - 12 1898 c.1508C>T c.(1507-1509)tCc>tTc p.S503F RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S503F|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S503F|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S503F Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 503 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ACCTTGGTAGGAGCCGTTTTT 0.408000 15 35 0 0 1 0 0 DDX52 11056 broad.mit.edu 37 17 36002305 36002305 + Silent SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr17:36002305C>T ENST00000349699.2 - 2 163 c.120G>A c.(118-120)tcG>tcA p.S40S DDX52_ENST00000394367.3_5'UTR NM_007010.3 NP_008941.2 Q9Y2R4 DDX52_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 40 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) GAAGCACCTCCGAAGAATCAA 0.398000 7 51 0 0 1 0 0 GPBP1 65056 broad.mit.edu 37 5 56542959 56542959 + Nonsense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr5:56542959G>T ENST00000424459.3 + 9 2055 c.781G>T c.(781-783)Gag>Tag p.E261* GPBP1_ENST00000454432.2_Nonsense_Mutation_p.E261*|GPBP1_ENST00000264779.6_Nonsense_Mutation_p.E248*|GPBP1_ENST00000514387.2_Nonsense_Mutation_p.E70*|GPBP1_ENST00000506184.2_Nonsense_Mutation_p.E241*|GPBP1_ENST00000511209.1_Nonsense_Mutation_p.E248*|GPBP1_ENST00000538707.1_Nonsense_Mutation_p.E248* NM_022913.3 NP_075064.1 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 241 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 19 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) TTTCCCTCATGAGTCCACATT 0.343000 7 16 0.000157383 0.000177056 1 1 0 OLFML2B 25903 broad.mit.edu 37 1 161953954 161953954 + Silent SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:161953954G>A ENST00000294794.3 - 8 2187 c.1764C>T c.(1762-1764)taC>taT p.Y588Y OLFML2B_ENST00000367938.1_Silent_p.Y71Y|OLFML2B_ENST00000367940.2_Silent_p.Y589Y NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 588 Olfactomedin-like. breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) GCTTCAGGTCGTACTTGATGA 0.602000 9 39 0 0 1 0 0 EYS 346007 broad.mit.edu 37 6 66205123 66205123 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr6:66205123C>T ENST00000503581.1 - 4 718 c.181G>A c.(181-183)Ggt>Agt p.G61S EYS_ENST00000342421.5_Missense_Mutation_p.G61S|EYS_ENST00000370618.3_Missense_Mutation_p.G61S|EYS_ENST00000393380.2_Missense_Mutation_p.G61S|EYS_ENST00000370621.3_Missense_Mutation_p.G61S|EYS_ENST00000370616.2_Missense_Mutation_p.G61S NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 61 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 GTGTTTACACCCAAAAACCAG 0.393000 28 52 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152192733 152192733 + Missense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:152192733C>A ENST00000368801.2 - 3 1447 c.1372G>T c.(1372-1374)Ggt>Tgt p.G458C FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 458 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TAGCCTGAACCAGACACATAT 0.592000 8 221 0.000157383 0.000177056 1 1 0 GRAMD1B 57476 broad.mit.edu 37 11 123465463 123465463 + Missense_Mutation SNP A A G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr11:123465463A>G ENST00000529750.1 + 5 688 c.361A>G c.(361-363)Aga>Gga p.R121G GRAMD1B_ENST00000322282.7_Missense_Mutation_p.R121G|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.R128G NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 121 GRAM. integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) TGCACTCCAAAGAGACATTCT 0.517000 7 28 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16907286 16907286 + Missense_Mutation SNP T T A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:16907286T>A ENST00000430580.2 - 16 2432 c.1545A>T c.(1543-1545)agA>agT p.R515S NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 515 NBPF 2. 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) GAGAGGATTCTCTGTCTACAA 0.453000 40 1377 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756217 94756217 + Missense_Mutation SNP G G C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr14:94756217G>C ENST00000554723.1 - 2 1252 c.834C>G c.(832-834)ttC>ttG p.F278L SERPINA10_ENST00000393096.1_Missense_Mutation_p.F238L|SERPINA10_ENST00000554173.1_Missense_Mutation_p.F238L|SERPINA10_ENST00000261994.4_Missense_Mutation_p.F238L Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 238 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) AAGTACCTTTGAACAAGATGT 0.408000 17 32 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27998161 27998161 + Missense_Mutation SNP A A T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:27998161A>T ENST00000441525.1 - 1 1405 c.1291T>A c.(1291-1293)Tat>Aat p.Y431N NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 431 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 TGCCCCTTATATCTCTTAACA 0.453000 17 37 0 0 1 0 0 DFNB59 494513 broad.mit.edu 37 2 179325123 179325123 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:179325123C>T ENST00000409117.3 + 6 1072 c.716C>T c.(715-717)aCg>aTg p.T239M DFNB59_ENST00000375129.4_Missense_Mutation_p.T239M NM_001042702.3 NP_001036167.1 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 239 sensory perception of sound breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) AGGGAAGAAACGGCAACATTT 0.318000 5 30 0 0 1 0 0 CA14 23632 broad.mit.edu 37 1 150233898 150233898 + Silent SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:150233898G>A ENST00000369111.4 + 3 1087 c.117G>A c.(115-117)gaG>gaA p.E39E NM_012113.1 NP_036245.1 Q9ULX7 CAH14_HUMAN carbonic anhydrase XIV 39 integral to membrane carbonate dehydratase activity|metal ion binding central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 18 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CTTACCCTGAGTGTGGAAACA 0.552000 7 47 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40730835 40730835 + Missense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr20:40730835C>A ENST00000373198.3 - 27 3944 c.3709G>T c.(3709-3711)Gac>Tac p.D1237Y PTPRT_ENST00000373187.1_Missense_Mutation_p.D1215Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.D1214Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.D1218Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.D1224Y|PTPRT_ENST00000373184.1_Missense_Mutation_p.D1225Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.D1205Y NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1215 Tyrosine-protein phosphatase 2. M -> L (in a colorectal cancer). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGGCAGCGGTCCAGAGGCAGC 0.572000 9 50 0.00448238 0.00463497 1 1 0 PLXNA1 5361 broad.mit.edu 37 3 126751305 126751305 + Silent SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr3:126751305G>T ENST00000393409.2 + 29 5307 c.5307G>T c.(5305-5307)acG>acT p.T1769T PLXNA1_ENST00000505278.1_3'UTR|PLXNA1_ENST00000251772.4_Silent_p.T1746T NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 1769 axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) ACAGCATCACGGACGCCTGCT 0.592000 9 40 0.00010058 0.000114746 1 1 0 NDUFA1 4694 broad.mit.edu 37 X 119007322 119007322 + Missense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:119007322G>A ENST00000371437.4 + 2 583 c.158G>A c.(157-159)cGc>cAc p.R53H NM_004541.3 NP_004532.1 O15239 NDUA1_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa 53 R -> C (in a colorectal cancer sample; somatic mutation). mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(1)|kidney(1)|large_intestine(2)|stomach(1) 5 NADH(DB00157) AGAGATAGGCGCATCTCTGGA 0.433000 6 71 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73068361 73068361 + Missense_Mutation SNP A A G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr11:73068361A>G ENST00000263674.3 + 9 4426 c.4076A>G c.(4075-4077)gAc>gGc p.D1359G NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1359 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 GAAGACGCAGACATCATCAAA 0.587000 8 7 0 0 1 0 0 KMT2E 55904 broad.mit.edu 37 7 104717615 104717615 + Missense_Mutation SNP A A G rs148942943 TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr7:104717615A>G ENST00000334877.4 + 10 1508 c.974A>G c.(973-975)aAt>aGt p.N325S KMT2E_ENST00000257745.4_Missense_Mutation_p.N325S|KMT2E_ENST00000311117.3_Missense_Mutation_p.N325S|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000476671.1_Missense_Mutation_p.N325S lysine (K)-specific methyltransferase 2E AATACCAACAATTTGCTCTTC 0.338000 12 19 0 0 1 0 0 LDOC1L 84247 broad.mit.edu 37 22 44893105 44893105 + Missense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr22:44893105C>A ENST00000341255.3 - 2 841 c.332G>T c.(331-333)cGg>cTg p.R111L NM_032287.2 NP_115663.2 Q6ICC9 LDOCL_HUMAN leucine zipper, down-regulated in cancer 1-like 111 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2) 11 Ovarian(80;0.024)|all_neural(38;0.0416) LUAD - Lung adenocarcinoma(64;0.0161) CCCCGCCAACCGGCCTGGGTC 0.612000 3 18 6.4e-05 7.37062e-05 1 1 0 WNK3 65267 broad.mit.edu 37 X 54319700 54319700 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:54319700G>T ENST00000354646.2 - 9 2192 c.1754C>A c.(1753-1755)cCc>cAc p.P585H WNK3_ENST00000375169.3_Missense_Mutation_p.P585H|WNK3_ENST00000375159.2_Missense_Mutation_p.P585H NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 585 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GGCTACACTGGGCTGACTTGA 0.398000 7 27 0.0477658 0.0483628 1 1 0 FLG 2312 broad.mit.edu 37 1 152280686 152280686 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:152280686C>T ENST00000368799.1 - 3 6711 c.6676G>A c.(6676-6678)Ggc>Agc p.G2226S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2226 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCCCTGGCCCACCAGTGAG 0.557000 Ichthyosis 118 217 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274341 39274341 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr17:39274341C>T ENST00000391413.2 - 1 265 c.227G>A c.(226-228)cGc>cAc p.R76H NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 76 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament 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) GCAGCTGGGGCGACAGCAGCT 0.657000 11 68 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70856056 70856056 + Silent SNP A A G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr5:70856056A>G ENST00000358731.4 + 37 7751 c.7488A>G c.(7486-7488)tcA>tcG p.S2496S BDP1_ENST00000380675.2_3'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 2496 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) CTAAAGCCTCACTATCCAGGT 0.368000 7 28 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578257 7578257 + Nonsense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr17:7578257C>A ENST00000420246.2 - 6 724 c.592G>T c.(592-594)Gaa>Taa p.E198* TP53_ENST00000269305.4_Nonsense_Mutation_p.E198*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E198*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E198*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E198*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E198* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 198 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. E -> D (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E198*(27)|p.0?(8)|p.E198K(5)|p.?(5)|p.P191_E198>Q(3)|p.E105*(3)|p.E66*(3)|p.E198fs*11(2)|p.E198Q(2)|p.E198fs*7(1)|p.E198fs*49(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.P59_E66>Q(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AAATTTCCTTCCACTCGGATA 0.547000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 9 21 0.000442599 0.000482294 1 1 0 TNN 63923 broad.mit.edu 37 1 175067491 175067491 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:175067491G>T ENST00000239462.4 + 9 1992 c.1879G>T c.(1879-1881)Gtg>Ttg p.V627L NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 627 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CAAAAACCTGGTGACTGACCG 0.512000 29 107 2.65835e-16 3.64959e-16 1 1 0 MAPKAPK2 9261 broad.mit.edu 37 1 206905049 206905049 + Silent SNP T T C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:206905049T>C ENST00000367103.3 + 8 1150 c.957T>C c.(955-957)ttT>ttC p.F319F MAPKAPK2_ENST00000294981.4_Silent_p.F319F|MAPKAPK2_ENST00000479009.1_3'UTR NM_004759.4|NM_032960.3 NP_004750.1|NP_116584.2 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated protein kinase 2 319 Protein kinase. activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 19 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) TCACCGAGTTTATGAACCACC 0.567000 38 93 0 0 1 0 0 LAS1L 81887 broad.mit.edu 37 X 64749665 64749665 + Missense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:64749665C>A ENST00000374811.3 - 5 648 c.608G>T c.(607-609)aGg>aTg p.R203M LAS1L_ENST00000374804.5_Missense_Mutation_p.R161M|LAS1L_ENST00000312391.8_Missense_Mutation_p.R203M|LAS1L_ENST00000374807.5_Missense_Mutation_p.R203M NM_031206.4 NP_112483.1 Q9Y4W2 LAS1L_HUMAN LAS1-like (S. cerevisiae) 203 MLL1 complex|nucleolus protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 33 TATCCCTTCCCTGAACTCCTC 0.498000 15 92 0.0202918 0.0208055 1 1 0 BPGM 669 broad.mit.edu 37 7 134346378 134346378 + Missense_Mutation SNP A A T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr7:134346378A>T ENST00000393132.2 + 3 608 c.119A>T c.(118-120)aAc>aTc p.N40I BPGM_ENST00000418040.1_Missense_Mutation_p.N40I|BPGM_ENST00000344924.3_Missense_Mutation_p.N40I NM_199186.2 NP_954655.1 P07738 PMGE_HUMAN 2,3-bisphosphoglycerate mutase 40 glycolysis|respiratory gaseous exchange 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity breast(1)|endometrium(1)|lung(2)|stomach(1) 5 GAAGCTCGGAACTGTGGGAAG 0.453000 18 46 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89498519 89498519 + Missense_Mutation SNP C C G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr3:89498519C>G ENST00000336596.2 + 14 2716 c.2491C>G c.(2491-2493)Cag>Gag p.Q831E EPHA3_ENST00000494014.1_Missense_Mutation_p.Q831E NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 831 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GATGTCCAATCAGGATGTAAG 0.448000 TSP Lung(6;0.00050) 28 43 0 0 1 0 0 OR51I1 390063 broad.mit.edu 37 11 5462537 5462537 + Missense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr11:5462537G>A ENST00000380211.1 - 1 207 c.208C>T c.(208-210)Ctc>Ttc p.L70F HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGATCATTGAGAGCGAGCATA 0.463000 11 41 0 0 1 0 0 FAM161B 145483 broad.mit.edu 37 14 74413187 74413187 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr14:74413187G>T ENST00000286544.3 - 2 563 c.365C>A c.(364-366)tCt>tAt p.S122Y FAM161B_ENST00000534936.1_Missense_Mutation_p.S59Y NM_152445.2 NP_689658.2 family with sequence similarity 161, member B breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2) 21 GTCAGAAGTAGAATCTATCTC 0.532000 20 90 5.35267e-07 6.63621e-07 1 1 0 KCNQ2 3785 broad.mit.edu 37 20 62071009 62071009 + Missense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr20:62071009C>A ENST00000354587.3 - 6 1045 c.869G>T c.(868-870)gGc>gTc p.G290V KCNQ2_ENST00000370224.1_Missense_Mutation_p.G290V|KCNQ2_ENST00000430658.1_Missense_Mutation_p.G290V|KCNQ2_ENST00000370226.1_Missense_Mutation_p.G290V|KCNQ2_ENST00000344425.5_Missense_Mutation_p.G290V|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G290V|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G290V|KCNQ2_ENST00000359125.2_Missense_Mutation_p.G290V|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G290V|KCNQ2_ENST00000370222.3_Missense_Mutation_p.G290V|KCNQ2_ENST00000370221.1_Missense_Mutation_p.G290V|KCNQ2_ENST00000344462.3_Missense_Mutation_p.G290V O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 290 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) AAGGAGCCTGCCGTTCCAGGT 0.632000 11 40 2.27111e-07 2.83015e-07 1 1 0 PRKX 5613 broad.mit.edu 37 X 3573368 3573368 + Silent SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:3573368G>T ENST00000262848.5 - 3 775 c.421C>A c.(421-423)Cgg>Agg p.R141R PRKX_ENST00000425240.1_5'UTR NM_005044.4 NP_005035.1 P51817 PRKX_HUMAN protein kinase, X-linked 141 Protein kinase. ATP binding|cAMP-dependent protein kinase activity kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2) 12 all_lung(23;0.000396)|Lung NSC(23;0.00123) AAGCGCCCCCGGTTGCGCAGG 0.592000 10 49 0.000442599 0.000482294 1 1 0 CAPN6 827 broad.mit.edu 37 X 110495656 110495656 + Nonsense_Mutation SNP A A T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:110495656A>T ENST00000324068.1 - 5 745 c.578T>A c.(577-579)tTg>tAg p.L193* CAPN6_ENST00000541758.1_Intron NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 193 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 AGTTTCAGCCAATGTGCCCGT 0.448000 22 50 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96769469 96769469 + Missense_Mutation SNP T T C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr14:96769469T>C ENST00000359933.4 - 33 5859 c.4966A>G c.(4966-4968)Aca>Gca p.T1656A ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1656 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) ATTTGTGATGTTGCCAAACGA 0.433000 7 41 0 0 1 0 0 APLF 200558 broad.mit.edu 37 2 68765023 68765023 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:68765023C>T ENST00000303795.4 + 7 995 c.824C>T c.(823-825)tCt>tTt p.S275F APLF_ENST00000471727.1_3'UTR NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 275 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 CAATCATTTTCTGCAATCACA 0.284000 3 19 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 154996949 154996949 + Missense_Mutation SNP A A T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:154996949A>T ENST00000392825.3 + 4 809 c.242A>T c.(241-243)aAt>aTt p.N81I GALNT13_ENST00000409237.1_Missense_Mutation_p.N81I NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 81 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 TTTAAAATCAATCAGTTTAAC 0.358000 8 32 0 0 1 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724658 38724658 + Missense_Mutation SNP C C G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr14:38724658C>G ENST00000342213.2 - 1 916 c.570G>C c.(568-570)ttG>ttC p.L190F NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 190 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) CGCGATAGCTCAAGTTAGAgg 0.657000 4 70 0 0 1 0 0 TCERG1 10915 broad.mit.edu 37 5 145849210 145849210 + Silent SNP A A G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr5:145849210A>G ENST00000296702.5 + 7 1340 c.1302A>G c.(1300-1302)gaA>gaG p.E434E TCERG1_ENST00000394421.2_Silent_p.E413E NM_006706.3 NP_006697.2 O14776 TCRG1_HUMAN transcription elongation regulator 1 434 WW 2. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1) 46 Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGTTTCTGAATGGACTGAAT 0.413000 26 114 0 0 1 0 0 AACS 65985 broad.mit.edu 37 12 125621346 125621346 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr12:125621346C>T ENST00000316519.6 + 17 2023 c.1817C>T c.(1816-1818)gCc>gTc p.A606V AACS_ENST00000261686.6_Intron|AACS_ENST00000316543.10_Missense_Mutation_p.A204V|AACS_ENST00000545511.1_Intron|AACS_ENST00000543665.1_Intron NM_023928.3 NP_076417.2 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 606 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) ATCCGTGACGCCATCCGCATG 0.617000 4 50 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121411177 121411177 + Missense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr3:121411177C>A ENST00000393667.3 - 14 7144 c.7034G>T c.(7033-7035)gGg>gTg p.G2345V GOLGB1_ENST00000340645.5_Missense_Mutation_p.G2340V NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 2340 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) CCTTATGATCCCTTCCAAGTT 0.388000 10 36 0.000442599 0.000482294 1 1 0 RSBN1 54665 broad.mit.edu 37 1 114308935 114308935 + Silent SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:114308935C>A ENST00000261441.5 - 7 2139 c.2076G>T c.(2074-2076)gtG>gtT p.V692V RSBN1_ENST00000369581.2_5'UTR NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 692 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTAAGCTGCACACCGCCGAAA 0.438000 13 80 0.00185496 0.00194291 1 1 0 TTN 7273 broad.mit.edu 37 2 179439793 179439793 + Missense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:179439793G>A ENST00000589042.1 - 326 71290 c.71066C>T c.(71065-71067)aCc>aTc p.T23689I TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T22048I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T14749I|TTN_ENST00000342175.6_Missense_Mutation_p.T14816I|TTN_ENST00000460472.2_Missense_Mutation_p.T14624I|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T21121I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22048 Fibronectin type-III 72. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTTAAAATGGTTGAAGTCGC 0.428000 6 21 0 0 1 0 0 C9orf135 138255 broad.mit.edu 37 9 72435815 72435815 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr9:72435815C>T ENST00000377197.3 + 1 107 c.20C>T c.(19-21)tCc>tTc p.S7F C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_Missense_Mutation_p.S7F NM_001010940.1 NP_001010940.1 Q5VTT2 CI135_HUMAN chromosome 9 open reading frame 135 7 integral to membrane endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 CTTGACAGATCCTGCCAGGAC 0.597000 4 21 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52252240 52252240 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr8:52252240C>T ENST00000356297.4 - 21 4190 c.4090G>A c.(4090-4092)Gat>Aat p.D1364N PXDNL_ENST00000543296.1_Intron NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1364 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GTGCTGAAATCTTGGGAGAAC 0.373000 12 85 0 0 1 0 0 OR6X1 390260 broad.mit.edu 37 11 123624882 123624882 + Silent SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr11:123624882G>A ENST00000327930.2 - 1 371 c.345C>T c.(343-345)atC>atT p.I115I NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CAAAAGACATGATAGTGAGGA 0.552000 7 32 0 0 1 0 0 TRBV7-4 28594 broad.mit.edu 37 7 142176779 142176779 + RNA SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr7:142176779C>A ENST00000390369.2 - 0 11 AGCAGAGGAGCCTGGTGCCCA 0.542000 29 38 1.06801e-11 1.41818e-11 1 1 0 GPATCH2 55105 broad.mit.edu 37 1 217793428 217793428 + Missense_Mutation SNP G G C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:217793428G>C ENST00000366935.3 - 2 580 c.470C>G c.(469-471)aCt>aGt p.T157S GPATCH2_ENST00000366934.3_Missense_Mutation_p.T157S NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 157 intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) CCTGCGCAGAGTTCTATTCCC 0.468000 22 73 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220504370 220504370 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:220504370C>T ENST00000358055.3 + 20 3702 c.3190C>T c.(3190-3192)Cgt>Tgt p.R1064C SLC4A3_ENST00000373762.3_Missense_Mutation_p.R1091C|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R1064C|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R1064C|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R1091C P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 1064 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GACAGTGATGCGTACTGCCAT 0.662000 7 30 0 0 1 0 0 DMKN 93099 broad.mit.edu 37 19 36004049 36004049 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr19:36004049C>T ENST00000339686.3 - 1 505 c.329G>A c.(328-330)gGg>gAg p.G110E DMKN_ENST00000419602.1_Missense_Mutation_p.G110E|DMKN_ENST00000424570.2_Missense_Mutation_p.G110E|DMKN_ENST00000418261.1_Missense_Mutation_p.G110E|DMKN_ENST00000440396.1_Missense_Mutation_p.G110E|DMKN_ENST00000429837.1_Missense_Mutation_p.G110E|DMKN_ENST00000451297.2_Missense_Mutation_p.G110E|DMKN_ENST00000447113.2_Missense_Mutation_p.G110E NM_033317.4 NP_201574.3 Q6E0U4 DMKN_HUMAN dermokine 110 Gly-rich. extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) AATCTCGTGCCCAGTGTTTCC 0.607000 4 46 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42574567 42574567 + Silent SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr20:42574567C>A ENST00000358131.5 + 1 223 c.15C>A c.(13-15)cgC>cgA p.R5R TOX2_ENST00000341197.3_Intron|TOX2_ENST00000423191.1_Intron|TOX2_ENST00000372999.1_Intron NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) AGCAGACTCGCACAGAGGCTG 0.527000 11 30 0.000673444 0.000720911 1 1 0 DBX1 120237 broad.mit.edu 37 11 20178124 20178124 + Missense_Mutation SNP A A T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr11:20178124A>T ENST00000227256.3 - 4 784 c.785T>A c.(784-786)tTc>tAc p.F262Y DBX1_ENST00000524983.2_Intron NM_001029865.2 NP_001025036.2 A6NMT0 DBX1_HUMAN developing brain homeobox 1 223 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 TTTCACCTGGAATGTCCCGGC 0.647000 9 39 0 0 1 0 0 GABRA3 2556 broad.mit.edu 37 X 151358391 151358391 + Missense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:151358391C>A ENST00000370314.4 - 9 1192 c.954G>T c.(952-954)atG>atT p.M318I GABRA3_ENST00000535043.1_Missense_Mutation_p.M318I|GABRA3_ENST00000370311.1_Missense_Mutation_p.M318I|GABRA3_ENST00000497894.1_5'UTR NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 318 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCAAGGTGGTCATGGTAAGCA 0.443000 9 44 1.12685e-05 1.33573e-05 1 1 0 WDR70 55100 broad.mit.edu 37 5 37392209 37392209 + Missense_Mutation SNP A A G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr5:37392209A>G ENST00000265107.4 + 4 439 c.283A>G c.(283-285)Aaa>Gaa p.K95E WDR70_ENST00000504564.1_Missense_Mutation_p.K95E NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 95 Ser-rich. central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGATTGCTCCAAATCATCTTC 0.308000 7 76 0 0 1 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18637203 18637203 + Missense_Mutation SNP T T G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr11:18637203T>G ENST00000336349.5 - 3 853 c.618A>C c.(616-618)gaA>gaC p.E206D NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 206 breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 GTTCAAGGAATTCTCGCTCCC 0.448000 34 72 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128630055 128630055 + Silent SNP T T A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr7:128630055T>A ENST00000393245.1 - 11 1933 c.1560A>T c.(1558-1560)ggA>ggT p.G520G TNPO3_ENST00000471234.1_Silent_p.G486G|TNPO3_ENST00000471166.1_Silent_p.G520G|TNPO3_ENST00000482320.1_Silent_p.G420G|TNPO3_ENST00000265388.5_Silent_p.G486G NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 486 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 CACTCATCTCTCCAACCAATT 0.458000 11 61 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21036509 21036509 + Missense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr12:21036509G>A ENST00000381545.3 + 13 1874 c.1655G>A c.(1654-1656)gGt>gAt p.G552D LST3_ENST00000540229.1_Missense_Mutation_p.G552D|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G552D|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G552D|LST3_ENST00000381541.3_Intron NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 552 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GCAACAGGAGGTACCACATTT 0.348000 21 30 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70470312 70470312 + Nonsense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:70470312G>T ENST00000373998.1 - 5 1740 c.1043C>A c.(1042-1044)tCg>tAg p.S348* ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.S350*|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Nonsense_Mutation_p.S348*|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.S350*|ZMYM3_ENST00000373981.1_Nonsense_Mutation_p.S348*|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.S348*|ZMYM3_ENST00000373982.1_Nonsense_Mutation_p.S350* NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 348 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) CTTTTTGCCCGAGGGCTTCTT 0.577000 4 12 0.150653 0.151904 1 1 0 YY2 404281 broad.mit.edu 37 X 21874983 21874983 + Silent SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:21874983G>A ENST00000429584.2 + 1 879 c.381G>A c.(379-381)gcG>gcA p.A127A MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 CGGCCTCGGCGGCATCAACAT 0.597000 4 40 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176759078 176759078 + Nonsense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:176759078C>T ENST00000367662.3 + 18 6013 c.4849C>T c.(4849-4851)Cag>Tag p.Q1617* NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1617 Sushi 4. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCTGGACAGCCAGTGTGTGCT 0.473000 5 110 0 0 1 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102508922 102508922 + Silent SNP A A C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr5:102508922A>C ENST00000321521.9 + 20 2923 c.2350A>C c.(2350-2352)Aga>Cga p.R784R PPIP5K2_ENST00000414217.1_Silent_p.R784R|PPIP5K2_ENST00000358359.3_Silent_p.R784R|PPIP5K2_ENST00000513500.1_3'UTR O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 784 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TCCTCTGGTTAGAAAAATTCG 0.358000 3 26 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150828286 150828286 + Silent SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:150828286G>A ENST00000370357.4 + 10 1064 c.819G>A c.(817-819)ctG>ctA p.L273L NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 273 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CAGTTTTCCTGGATACTATGC 0.388000 11 47 0 0 1 0 0 OR4D10 390197 broad.mit.edu 37 11 59244924 59244924 + Missense_Mutation SNP A A T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr11:59244924A>T ENST00000530162.1 + 1 79 c.22A>T c.(22-24)Agg>Tgg p.R8W NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AAACTGCACCAGGGTAAAAGA 0.388000 17 39 0 0 1 0 0 TPTEP1 387590 broad.mit.edu 37 22 17119629 17119629 + RNA SNP G G T rs138266670 by1000genomes TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr22:17119629G>T ENST00000426585.1 + 0 441 ATTTGTAGAAGGGTAAGTTTG 0.373000 5 20 0.000602214 0.000647514 1 1 0 KCNV1 27012 broad.mit.edu 37 8 110984758 110984758 + Missense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr8:110984758C>A ENST00000524391.1 - 3 1752 c.720G>T c.(718-720)caG>caT p.Q240H KCNV1_ENST00000297404.1_Missense_Mutation_p.Q240H Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 240 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TTTCCAGCAGCTGCAGGTCCA 0.537000 15 40 0.000219431 0.000245723 1 1 0 PLEKHM3 389072 broad.mit.edu 37 2 208795816 208795816 + Nonsense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:208795816C>A ENST00000457206.1 - 5 2147 c.1720G>T c.(1720-1722)Gag>Tag p.E574* PLEKHM3_ENST00000427836.2_Nonsense_Mutation_p.E574*|PLEKHM3_ENST00000389247.4_Nonsense_Mutation_p.E574* Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 574 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TACACGTACTCCAGAAACTCC 0.597000 16 52 3.45872e-05 4.06023e-05 1 1 0 ZNF521 25925 broad.mit.edu 37 18 22804706 22804706 + Missense_Mutation SNP T T A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr18:22804706T>A ENST00000361524.3 - 4 3324 c.3176A>T c.(3175-3177)cAg>cTg p.Q1059L ZNF521_ENST00000538137.2_Missense_Mutation_p.Q1059L|ZNF521_ENST00000584787.1_Missense_Mutation_p.Q839L NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1059 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTGGACGTGCTGGCCCCGCCC 0.498000 T PAX5 ALL 7 26 0 0 1 0 0 C21orf91 54149 broad.mit.edu 37 21 19168902 19168902 + Nonsense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr21:19168902C>A ENST00000284881.4 - 3 751 c.661G>T c.(661-663)Gaa>Taa p.E221* AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400559.3_Nonsense_Mutation_p.E221*|C21orf91_ENST00000400558.3_Nonsense_Mutation_p.E221* NM_001100420.1|NM_017447.3 NP_001093890.1|NP_059143.3 Q9NYK6 EURL_HUMAN chromosome 21 open reading frame 91 221 endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929) TACTTACATTCCTCTCTGCTG 0.408000 21 79 6.44725e-10 8.46855e-10 1 1 0 LYZL2 119180 broad.mit.edu 37 10 30915036 30915036 + Missense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr10:30915036G>A ENST00000375318.2 - 3 490 c.434C>T c.(433-435)tCa>tTa p.S145L NM_183058.2 NP_898881.2 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 99 cell wall macromolecule catabolic process extracellular region lysozyme activity NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1) 19 Prostate(175;0.151) AGCCTCACCTGAGCAGGCGAC 0.532000 7 65 0 0 1 0 0 CXorf48 54967 broad.mit.edu 37 X 134303518 134303518 + Splice_Site SNP C C G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:134303518C>G ENST00000344129.2 - 2 505 c.279_splice c.e2+1 p.K93_splice CXorf48_ENST00000276241.6_Splice_Site_p.K93_splice NM_017863.2 NP_060333.1 Q8WUE5 CX048_HUMAN chromosome X open reading frame 48 93 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Acute lymphoblastic leukemia(192;0.000127) CACATCTCACCTTGATTGCTC 0.418000 4 27 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 33031389 33031389 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr12:33031389C>T ENST00000340811.4 - 3 533 c.425G>A c.(424-426)aGg>aAg p.R142K PKP2_ENST00000070846.6_Missense_Mutation_p.R142K NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 142 cell-cell adhesion desmosome|integral to membrane|nucleus binding p.R142I(1) NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CAGAGGATGCCTCAAGGACCT 0.567000 39 147 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382348 152382348 + Missense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:152382348C>A ENST00000271835.3 - 3 1272 c.1210G>T c.(1210-1212)Gcc>Tcc p.A404S RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 404 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGTCTGGGCCTGTCCTCCC 0.607000 37 73 9.17885e-22 1.29678e-21 1 1 0 ZNF76 7629 broad.mit.edu 37 6 35260463 35260463 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr6:35260463G>T ENST00000373953.3 + 10 1330 c.1064G>T c.(1063-1065)cGg>cTg p.R355L ZNF76_ENST00000440666.2_Missense_Mutation_p.R329L|ZNF76_ENST00000339411.5_Missense_Mutation_p.R355L NM_003427.3 NP_003418.2 P36508 ZNF76_HUMAN zinc finger protein 76 355 regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1) 16 AAGACCTACCGGCAGACCTCC 0.617000 9 16 0.000274275 0.000302949 1 1 0 ZNF804B 219578 broad.mit.edu 37 7 88847516 88847516 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr7:88847516G>T ENST00000333190.4 + 2 765 c.156G>T c.(154-156)aaG>aaT p.K52N NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 52 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AAGATGTAAAGGCAAACTTTT 0.363000 HNSCC(36;0.09) 6 49 0.00116845 0.00123449 1 1 0 IGHV1-69 28461 broad.mit.edu 37 14 107170138 107170138 + RNA SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr14:107170138G>A ENST00000390633.2 - 0 204 CATAGCTGCTGAAGGTGCCTC 0.587000 21 74 0 0 1 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307420 140307420 + Missense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr5:140307420G>A ENST00000253807.2 + 1 943 c.943G>A c.(943-945)Gaa>Aaa p.E315K PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E315K|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGAGGGACGAAGGTGTCTT 0.547000 17 61 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1539142 1539142 + Missense_Mutation SNP C C G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr7:1539142C>G ENST00000389470.4 - 7 1194 c.1195G>C c.(1195-1197)Gag>Cag p.E399Q INTS1_ENST00000404767.3_Missense_Mutation_p.E271Q Q8N201 INT1_HUMAN integrator complex subunit 1 271 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CGGCCCGCCTCCCCCTGCAGC 0.672000 5 19 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129901397 129901397 + Nonsense_Mutation SNP T T A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr10:129901397T>A ENST00000368654.3 - 13 9082 c.8707A>T c.(8707-8709)Aga>Tga p.R2903* MKI67_ENST00000368653.3_Nonsense_Mutation_p.R2543* NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2903 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTTGGCTGTCTCCTGCTGCCA 0.542000 21 104 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21234663 21234663 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:21234663G>T ENST00000233242.1 - 26 5204 c.5077C>A c.(5077-5079)Cac>Aac p.H1693N NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1693 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTTGCATTGTGTTCCCTGAAG 0.488000 14 100 0.000151284 0.000171786 1 1 0 FLG 2312 broad.mit.edu 37 1 152282447 152282447 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:152282447C>T ENST00000368799.1 - 3 4950 c.4915G>A c.(4915-4917)Gat>Aat p.D1639N FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1639 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTCTATCTTCTTGATGG 0.552000 Ichthyosis 27 295 0 0 1 0 0 MCUR1 63933 broad.mit.edu 37 6 13799070 13799070 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr6:13799070C>T ENST00000379170.4 - 6 988 c.850G>A c.(850-852)Gaa>Aaa p.E284K NM_001031713.3 NP_001026883.1 mitochondrial calcium uniporter regulator 1 CGTACCAATTCTTTTACTCTG 0.333000 15 10 0 0 1 0 0 URGCP 55665 broad.mit.edu 37 7 43917546 43917546 + Nonsense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr7:43917546G>A ENST00000336086.6 - 4 3623 c.1387C>T c.(1387-1389)Caa>Taa p.Q463* URGCP_ENST00000443736.1_Nonsense_Mutation_p.Q463*|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Nonsense_Mutation_p.Q506*|URGCP_ENST00000402306.3_Nonsense_Mutation_p.Q497*|URGCP_ENST00000223341.7_Nonsense_Mutation_p.Q463*|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Nonsense_Mutation_p.Q463* Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 506 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TTCTCCACTTGGGCTGCCTTT 0.597000 34 62 0 0 1 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43481398 43481398 + Missense_Mutation SNP A A T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr17:43481398A>T ENST00000532038.1 - 6 1013 c.878T>A c.(877-879)cTc>cAc p.L293H ARHGAP27_ENST00000455881.1_Missense_Mutation_p.L174H|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.L493H|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.L174H|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.L515H|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.L488H|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.L147H Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 515 positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) CTCTCACCGGAGCCGCTTTCC 0.572000 4 27 0 0 1 0 0 THAP7-AS1 439931 broad.mit.edu 37 22 21363505 21363505 + RNA SNP C C T rs2516542 by1000genomes TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr22:21363505C>T ENST00000452284.1 + 0 1172 THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA NR_027051.1 GCTTTGCTGTCGACTATGAAG 0.567000 4 58 0 0 1 0 0 CHRNG 1146 broad.mit.edu 37 2 233409177 233409177 + Nonsense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:233409177C>A ENST00000389494.3 + 10 1157 c.1136C>A c.(1135-1137)tCg>tAg p.S379* CHRNG_ENST00000389492.3_Nonsense_Mutation_p.S327* NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 379 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) AATGGCTCCTCGGGATGGTCG 0.667000 23 67 1.64293e-13 2.23035e-13 1 1 0 PCDHGA11 56105 broad.mit.edu 37 5 140802551 140802551 + Missense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr5:140802551G>A ENST00000398587.2 + 1 1790 c.1757G>A c.(1756-1758)gGc>gAc p.G586D PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.G586D|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron NM_018914.2|NM_032092.1 NP_061737.1|NP_114481.1 breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGAACCTGGCTACCTGGTG 0.647000 6 96 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49450351 49450351 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr10:49450351C>T ENST00000374201.3 - 5 722 c.420G>A c.(418-420)atG>atA p.M140I FRMPD2_ENST00000407470.4_Missense_Mutation_p.M109I|FRMPD2_ENST00000305531.3_Missense_Mutation_p.M116I NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 140 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) GGTCTTCACACATGGTCAGCA 0.617000 4 68 0 0 1 0 0 LRFN4 78999 broad.mit.edu 37 11 66625659 66625659 + Silent SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr11:66625659G>A ENST00000309602.4 + 1 687 c.444G>A c.(442-444)gaG>gaA p.E148E PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Silent_p.E148E|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 148 integral to membrane breast(1)|lung(1)|prostate(1) 3 AGAGCCTGGAGGACCTGGACC 0.657000 18 29 0 0 1 0 0 DOK6 220164 broad.mit.edu 37 18 67508510 67508510 + Missense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr18:67508510G>A ENST00000382713.5 + 8 1077 c.887G>A c.(886-888)cGt>cAt p.R296H NM_152721.5 NP_689934.2 Q6PKX4 DOK6_HUMAN docking protein 6 296 insulin receptor binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(73;0.083)|Esophageal squamous(42;0.131) AAGATGTCTCGTGCACAGACA 0.502000 10 45 0 0 1 0 0 ARL4A 10124 broad.mit.edu 37 7 12728429 12728429 + Missense_Mutation SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr7:12728429G>A ENST00000396663.1 + 2 1032 c.550G>A c.(550-552)Gat>Aat p.D184N ARL4A_ENST00000356797.3_Missense_Mutation_p.D184N|ARL4A_ENST00000396662.1_Missense_Mutation_p.D184N|ARL4A_ENST00000404894.1_Missense_Mutation_p.D184N|ARL4A_ENST00000396664.2_Missense_Mutation_p.D184N NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3 NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1 P40617 ARL4A_HUMAN ADP-ribosylation factor-like 4A 184 small GTPase mediated signal transduction cytoplasm|nucleolus|plasma membrane GTP binding|protein binding NS(2)|lung(3)|ovary(1) 6 UCEC - Uterine corpus endometrioid carcinoma (126;0.176) GAAACTACATGATATGATCAT 0.393000 10 52 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234669197 234669197 + Silent SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:234669197G>T ENST00000360418.3 + 1 264 c.264G>T c.(262-264)gtG>gtT p.V88V UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000305208.5_Silent_p.V88V|UGT1A5_ENST00000373414.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron P22309 UD11_HUMAN 88 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GGGAGGATGTGAAAGAGTCTT 0.418000 26 127 7.41945e-09 9.48909e-09 1 1 0 HNF1A 6927 broad.mit.edu 37 12 121437354 121437354 + Silent SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr12:121437354C>T ENST00000257555.6 + 9 1918 c.1692C>T c.(1690-1692)acC>acT p.T564T HNF1A_ENST00000544413.1_Silent_p.T571T|HNF1A_ENST00000541395.1_Silent_p.T595T P20823 HNF1A_HUMAN HNF1 homeobox A 564 glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption cytoplasm|nucleus|protein complex DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 221 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) AGGCCACCACCCTCCACGTCC 0.706000 Hepatic Adenoma, Familial Clustering of 3 22 0 0 1 0 0 C9orf96 169436 broad.mit.edu 37 9 136249642 136249642 + Silent SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr9:136249642G>A ENST00000371957.3 + 3 284 c.177G>A c.(175-177)gtG>gtA p.V59V C9orf96_ENST00000468046.1_3'UTR|C9orf96_ENST00000426926.2_Silent_p.V59V|C9orf96_ENST00000371955.1_5'UTR NM_153710.3 NP_714921.3 Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 59 Protein kinase. ATP binding|protein kinase activity autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CCTTGCAGGTGGAATGCATGG 0.493000 29 49 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56090809 56090809 + Silent SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr12:56090809C>T ENST00000257880.7 - 13 1962 c.1743G>A c.(1741-1743)cgG>cgA p.R581R ITGA7_ENST00000553804.1_Silent_p.R541R|ITGA7_ENST00000555728.1_Silent_p.R581R|ITGA7_ENST00000257879.6_Silent_p.R537R|ITGA7_ENST00000394229.2_Silent_p.R537R|ITGA7_ENST00000394230.2_Silent_p.R541R|ITGA7_ENST00000452168.2_Silent_p.R444R|ITGA7_ENST00000347027.6_Silent_p.R531R Q13683 ITA7_HUMAN integrin, alpha 7 581 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GAACCTGGCCCCGGAGCCTCC 0.622000 5 8 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153215763 153215763 + Missense_Mutation SNP T T C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:153215763T>C ENST00000310441.7 - 24 6901 c.5935A>G c.(5935-5937)Atc>Gtc p.I1979V HCFC1_ENST00000369984.4_Missense_Mutation_p.I2024V|HCFC1_ENST00000354233.3_Missense_Mutation_p.I1910V NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1979 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGGAAGATGATGGCGGGCTTG 0.642000 10 48 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167262851 167262851 + Missense_Mutation SNP C C G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:167262851C>G ENST00000409855.1 - 25 4414 c.4288G>C c.(4288-4290)Gtt>Ctt p.V1430L NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1430 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 AATATTGCAACTTGAAAAAGA 0.353000 35 68 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr12:25398284C>G ENST00000311936.3 - 2 226 c.35G>C c.(34-36)gGt>gCt p.G12A KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 11 0 0 1 0 0 GYPC 2995 broad.mit.edu 37 2 127453521 127453521 + Splice_Site SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:127453521G>T ENST00000259254.4 + 4 521 c.e4-1 GYPC_ENST00000356887.7_Splice_Site|GYPC_ENST00000409836.3_Splice_Site|GYPC_ENST00000464053.1_Splice_Site NM_002101.4 NP_002092.1 P04921 GLPC_HUMAN glycophorin C (Gerbich blood group) cortical cytoskeleton|integral to plasma membrane protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1) 13 Colorectal(110;0.0533) BRCA - Breast invasive adenocarcinoma(221;0.075) CCCACCTGCAGGTGTGATTGC 0.587000 26 73 3.08376e-08 3.90289e-08 1 1 0 STK33 65975 broad.mit.edu 37 11 8486361 8486361 + Silent SNP A A G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr11:8486361A>G ENST00000447869.1 - 3 1266 c.348T>C c.(346-348)taT>taC p.Y116Y STK33_ENST00000396672.1_Silent_p.Y116Y|STK33_ENST00000315204.1_Silent_p.Y116Y|STK33_ENST00000396673.1_Silent_p.Y116Y|STK33_ENST00000358872.3_5'UTR|STK33_ENST00000534493.1_Silent_p.Y75Y Q9BYT3 STK33_HUMAN serine/threonine kinase 33 116 Protein kinase. Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TTCCAAAGGTATAGATTTCCT 0.358000 4 30 0 0 1 0 0 MCTS1 28985 broad.mit.edu 37 X 119746108 119746108 + Missense_Mutation SNP A A C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:119746108A>C ENST00000371315.3 + 6 1071 c.538A>C c.(538-540)Aca>Cca p.T180P RP4-655L22.2_ENST00000424799.1_RNA|MCTS1_ENST00000487133.1_3'UTR|MCTS1_ENST00000371317.5_Missense_Mutation_p.T179P NM_001137554.1 NP_001131026.1 Q9ULC4 MCTS1_HUMAN malignant T cell amplified sequence 1 179 cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1) 10 GCATATGAAGACATATAAATG 0.363000 15 76 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15319131 15319131 + Missense_Mutation SNP T T C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:15319131T>C ENST00000281513.5 - 51 6846 c.6821A>G c.(6820-6822)cAa>cGa p.Q2274R NBAS_ENST00000441750.1_Missense_Mutation_p.Q2154R NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 2274 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TGCCGTGATTTGCTCCAGTGC 0.433000 14 30 0 0 1 0 0 HOMEZ 57594 broad.mit.edu 37 14 23745007 23745007 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr14:23745007C>T ENST00000357460.5 - 2 1594 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q HOMEZ_ENST00000561013.1_Missense_Mutation_p.R479Q|HOMEZ_ENST00000431326.2_Missense_Mutation_p.R479Q NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 477 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) ATCAGTTTCCCGTAGCTGTTG 0.552000 3 28 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45826563 45826563 + Missense_Mutation SNP C C G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr21:45826563C>G ENST00000397928.1 + 19 3322 c.2877C>G c.(2875-2877)aaC>aaG p.N959K TRPM2_ENST00000397932.2_Missense_Mutation_p.N959K|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.N959K|TRPM2_ENST00000300481.9_Missense_Mutation_p.N939K NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 959 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TCATCCACAACGAGCGCCGGG 0.627000 4 12 0 0 1 0 0 SLC18A2 6571 broad.mit.edu 37 10 119026322 119026322 + Splice_Site SNP G G C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr10:119026322G>C ENST00000298472.5 + 11 1213 c.1070_splice c.e11+1 p.R357_splice SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 357 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) AAAATGGGGAGGTAAGATGAT 0.338000 10 76 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26960635 26960635 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr17:26960635G>T ENST00000528896.2 - 18 3471 c.3397C>A c.(3397-3399)Cgt>Agt p.R1133S RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R990S|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R990S NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1133 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) AACAGAAGACGGCTCTTGTCC 0.557000 5 23 0.000602214 0.000647514 1 1 0 TSIX 9383 broad.mit.edu 37 X 73049017 73049017 + RNA SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:73049017G>A ENST00000604411.1 + 0 36978 XIST_ENST00000429829.1_lincRNA NR_003255.2 TCAGCTCTCTGCACTGCTTGT 0.408000 9 20 0 0 1 0 0 WDTC1 23038 broad.mit.edu 37 1 27624465 27624465 + Silent SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:27624465G>A ENST00000319394.3 + 12 1630 c.1095G>A c.(1093-1095)gtG>gtA p.V365V WDTC1_ENST00000361771.3_Silent_p.V364V NM_001276252.1|NM_015023.3 NP_001263181.1|NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 365 protein binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1) 21 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) TGGAGCGTGTGAAACAGCAAG 0.552000 10 34 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153589731 153589731 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:153589731G>T ENST00000422373.1 - 21 3400 c.3152C>A c.(3151-3153)cCc>cAc p.P1051H FLNA_ENST00000369850.3_Missense_Mutation_p.P1051H|FLNA_ENST00000344736.4_Missense_Mutation_p.P1051H|FLNA_ENST00000360319.4_Missense_Mutation_p.P1051H NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1051 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCAGGCACGGGCACGCCGTC 0.632000 16 40 2.32078e-09 2.99974e-09 1 1 0 PRKAG2 51422 broad.mit.edu 37 7 151478345 151478345 + Missense_Mutation SNP C C G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr7:151478345C>G ENST00000287878.4 - 3 863 c.359G>C c.(358-360)cGc>cCc p.R120P PRKAG2_ENST00000392801.2_Missense_Mutation_p.R76P|PRKAG2_ENST00000461529.1_5'UTR NM_016203.3 NP_057287.2 Q9UGJ0 AAKG2_HUMAN protein kinase, AMP-activated, gamma 2 non-catalytic subunit 120 ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1) 26 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) GAAGCTCATGCGTCGAGGGGA 0.632000 21 48 0 0 1 0 0 AIM2 9447 broad.mit.edu 37 1 159038400 159038400 + Silent SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:159038400G>A ENST00000368130.4 - 3 642 c.354C>T c.(352-354)gtC>gtT p.V118V AIM2_ENST00000481829.1_5'UTR NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 118 cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) GTTGCTTTGCGACATCATTTC 0.433000 9 73 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20699568 20699568 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr11:20699568C>T ENST00000298925.5 + 3 383 c.230C>T c.(229-231)tCt>tTt p.S77F NELL1_ENST00000532434.1_Missense_Mutation_p.S49F|NELL1_ENST00000357134.5_Missense_Mutation_p.S49F|NELL1_ENST00000325319.5_Missense_Mutation_p.S49F Q92832 NELL1_HUMAN NEL-like 1 (chicken) 49 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 GCTCAGGTGTCTGGAATGCAC 0.522000 19 52 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482310 140482310 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr5:140482310G>T ENST00000231130.2 + 1 2077 c.2077G>T c.(2077-2079)Gca>Tca p.A693S NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 693 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGGTGGTGGCATTGGCCTC 0.682000 6 118 0.00198382 0.00206896 1 1 0 MXRA5 25878 broad.mit.edu 37 X 3241885 3241885 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:3241885G>T ENST00000217939.6 - 5 1995 c.1841C>A c.(1840-1842)cCa>cAa p.P614Q NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 614 Ig-like C2-type 2. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCTTCTGTTTGGAAGAATCCA 0.448000 4 27 0.00024832 0.000275533 1 1 0 GUCY1A2 2977 broad.mit.edu 37 11 106810513 106810513 + Silent SNP G G A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr11:106810513G>A ENST00000526355.1 - 4 1347 c.879C>T c.(877-879)atC>atT p.I293I GUCY1A2_ENST00000347596.2_Silent_p.I293I|GUCY1A2_ENST00000282249.2_Silent_p.I293I NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 293 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CACATTCTTTGATAAGGAAAG 0.433000 11 44 0 0 1 0 0 TNPO3 23534 broad.mit.edu 37 7 128630045 128630045 + Nonsense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr7:128630045C>A ENST00000393245.1 - 11 1943 c.1570G>T c.(1570-1572)Gaa>Taa p.E524* TNPO3_ENST00000471234.1_Nonsense_Mutation_p.E490*|TNPO3_ENST00000471166.1_Nonsense_Mutation_p.E524*|TNPO3_ENST00000482320.1_Nonsense_Mutation_p.E424*|TNPO3_ENST00000265388.5_Nonsense_Mutation_p.E490* NM_012470.3 NP_036602.1 Q9Y5L0 TNPO3_HUMAN transportin 3 490 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3) 22 TCAACGACTTCACTCATCTCT 0.453000 10 56 0.000978159 0.00104251 1 1 0 RYR2 6262 broad.mit.edu 37 1 237947751 237947751 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:237947751G>T ENST00000366574.2 + 90 13056 c.12739G>T c.(12739-12741)Gcg>Tcg p.A4247S RYR2_ENST00000360064.6_Missense_Mutation_p.A4253S|RYR2_ENST00000542537.1_Missense_Mutation_p.A4231S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4247 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGCCCTGTTTGCGCTCAGGTA 0.502000 6 18 0.0215528 0.0220056 1 1 0 ABCG1 9619 broad.mit.edu 37 21 43645931 43645931 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr21:43645931C>T ENST00000398457.2 + 3 459 c.199C>T c.(199-201)Cgc>Tgc p.R67C ABCG1_ENST00000343687.3_Missense_Mutation_p.R76C|ABCG1_ENST00000347800.2_Missense_Mutation_p.R62C|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Missense_Mutation_p.R65C|ABCG1_ENST00000361802.2_Missense_Mutation_p.R65C NM_207627.1|NM_207628.1 NP_997510.1|NP_997511.1 P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 65 amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) GGAAGCCCAGCGCTTCTCCTC 0.532000 14 65 0 0 1 0 0 REEP1 65055 broad.mit.edu 37 2 86479160 86479160 + Nonsense_Mutation SNP G G A rs121918263 TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:86479160G>A ENST00000165698.5 - 5 480 c.337C>T c.(337-339)Cga>Tga p.R113* REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000535845.1_Nonsense_Mutation_p.R86*|REEP1_ENST00000541910.1_Intron|REEP1_ENST00000540790.1_Nonsense_Mutation_p.R92*|REEP1_ENST00000538924.1_Nonsense_Mutation_p.R120* NM_022912.2 NP_075063.1 Q9H902 REEP1_HUMAN receptor accessory protein 1 113 cell death|protein insertion into membrane integral to membrane|mitochondrial membrane olfactory receptor binding breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 13 TCGTAACTTCGGTCTTTTGCT 0.507000 8 118 0 0 1 0 0 MAGEB4 4115 broad.mit.edu 37 X 30260934 30260934 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:30260934G>T ENST00000378982.2 + 1 878 c.682G>T c.(682-684)Ggg>Tgg p.G228W NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 228 MAGE. breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 GAATATGCTGGGGATCTATGA 0.478000 11 54 1.58986e-06 1.91256e-06 1 1 0 EIF5A2 56648 broad.mit.edu 37 3 170624864 170624864 + Missense_Mutation SNP C C G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr3:170624864C>G ENST00000295822.2 - 3 369 c.184G>C c.(184-186)Gat>Cat p.D62H EIF5A2_ENST00000460117.1_Intron|EIF5A2_ENST00000474096.1_Missense_Mutation_p.D62H|EIF5A2_ENST00000487522.1_Missense_Mutation_p.D62H NM_020390.5 NP_065123.1 Q9GZV4 IF5A2_HUMAN eukaryotic translation initiation factor 5A2 62 mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport cytosol|endoplasmic reticulum membrane|nuclear pore protein binding|ribosome binding|translation elongation factor activity large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 3 all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15) GTGAAAATATCAATTCCAACA 0.353000 3 20 0 0 1 0 0 SLC25A37 51312 broad.mit.edu 37 8 23429144 23429144 + Missense_Mutation SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr8:23429144C>A ENST00000519973.1 + 4 991 c.793C>A c.(793-795)Cag>Aag p.Q265K NM_016612.2 NP_057696.2 Q9NYZ2 MFRN1_HUMAN solute carrier family 25 (mitochondrial iron transporter), member 37 265 ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) TCTGAACACTCAGGAGAACGT 0.672000 4 21 2.56e-06 3.06443e-06 1 1 0 MYO3B 140469 broad.mit.edu 37 2 171399460 171399460 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:171399460C>T ENST00000334231.6 + 31 3647 c.3647C>T c.(3646-3648)gCa>gTa p.A1216V MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.A1207V|MYO3B_ENST00000409044.3_Missense_Mutation_p.A1180V Q8WXR4 MYO3B_HUMAN myosin IIIB 1207 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GATATCTTCGCAGGACATGCA 0.368000 21 51 0 0 1 0 0 ZNF616 90317 broad.mit.edu 37 19 52618660 52618660 + Missense_Mutation SNP T T C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr19:52618660T>C ENST00000600228.1 - 4 2018 c.1757A>G c.(1756-1758)tAc>tGc p.Y586C ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 586 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) ATACTGACTGTAGACCTTGCC 0.433000 14 32 0 0 1 0 0 TRBV5-7 28608 broad.mit.edu 37 7 142111599 142111599 + RNA SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr7:142111599G>T ENST00000390378.1 - 0 136 GGTGTGCCCAGAGATAGGAGA 0.532000 34 65 6.00712e-18 8.38926e-18 1 1 0 MTA1 9112 broad.mit.edu 37 14 105927155 105927155 + Silent SNP C C A TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr14:105927155C>A ENST00000331320.7 + 10 1021 c.807C>A c.(805-807)atC>atA p.I269I MTA1_ENST00000406191.1_Silent_p.I269I|MTA1_ENST00000405646.1_Silent_p.I252I NM_001203258.1|NM_004689.3 NP_001190187.1|NP_004680.2 Q13330 MTA1_HUMAN metastasis associated 1 269 ELM2. signal transduction cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1) 14 all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026) Epithelial(152;0.19) CCAAGGCCATCTCGGCGCTGG 0.602000 3 27 1 1 1 1 0 WDR70 55100 broad.mit.edu 37 5 37392197 37392197 + Missense_Mutation SNP A A G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr5:37392197A>G ENST00000265107.4 + 4 427 c.271A>G c.(271-273)Aga>Gga p.R91G WDR70_ENST00000504564.1_Missense_Mutation_p.R91G NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 91 Ser-rich. central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAATGTGGTCAGAGATTGCTC 0.323000 7 71 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186114580 186114580 + Missense_Mutation SNP G G T rs141397809 TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:186114580G>T ENST00000271588.4 + 92 14541 c.14312G>T c.(14311-14313)cGg>cTg p.R4771L HMCN1_ENST00000367492.2_Missense_Mutation_p.R4771L NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4771 TSP type-1 5. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ACATGCAGCCGGACGTGTAAC 0.552000 23 53 0.00047179 0.000511808 1 1 0 CSMD1 64478 broad.mit.edu 37 8 3081337 3081337 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr8:3081337G>T ENST00000520002.1 - 29 4956 c.4401C>A c.(4399-4401)aaC>aaA p.N1467K CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.N1466K|CSMD1_ENST00000539096.1_Missense_Mutation_p.N1466K|CSMD1_ENST00000537824.1_Missense_Mutation_p.N1466K|CSMD1_ENST00000602723.1_Missense_Mutation_p.N1467K|CSMD1_ENST00000400186.3_Missense_Mutation_p.N1467K|CSMD1_ENST00000602557.1_Missense_Mutation_p.N1467K Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1467 CUB 9. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCTGTGGGTAGTTGGGTGACA 0.483000 7 25 5.4927e-09 7.06205e-09 1 1 0 CACNA1F 778 broad.mit.edu 37 X 49083420 49083420 + Missense_Mutation SNP C C T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:49083420C>T ENST00000376265.2 - 9 1349 c.1288G>A c.(1288-1290)Gaa>Aaa p.E430K CACNA1F_ENST00000323022.5_Intron|CACNA1F_ENST00000376251.1_Missense_Mutation_p.E365K NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 430 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) CGGCCCTCTTCAGCCATAGAA 0.607000 4 22 0 0 1 0 0 SPARC 6678 broad.mit.edu 37 5 151051184 151051184 + Missense_Mutation SNP C C T rs142207246 TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr5:151051184C>T ENST00000231061.4 - 5 593 c.280G>A c.(280-282)Gtg>Atg p.V94M NM_003118.3 NP_003109.1 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich (osteonectin) 94 Kazal-like. ossification|platelet activation|platelet degranulation|signal transduction basement membrane|extracellular space|platelet alpha granule lumen calcium ion binding|collagen binding central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) Becaplermin(DB00102) TCCTGGCACACGCACATGGGG 0.597000 23 74 0 0 1 0 0 CD1A 909 broad.mit.edu 37 1 158226574 158226574 + Splice_Site SNP A A T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:158226574A>T ENST00000289429.5 + 4 1137 c.e4-1 NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TGTCCTTTGCAGTGAAGCCCG 0.483000 14 65 0 0 1 0 0 SF3B1 23451 broad.mit.edu 37 2 198265540 198265540 + Missense_Mutation SNP C C G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:198265540C>G ENST00000335508.5 - 18 2708 c.2617G>C c.(2617-2619)Gag>Cag p.E873Q NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 873 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATAATTTTCTCAATTGTCTCC 0.373000 Mis myelodysplastic syndrome 8 43 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28304321 28304321 + Splice_Site SNP A A T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr21:28304321A>T ENST00000284987.5 - 6 2171 c.e6+1 AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 GTGTGTAGTTACCTTTGGAGA 0.493000 18 22 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57170052 57170052 + Missense_Mutation SNP A A T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:57170052A>T ENST00000371244.4 + 7 1263 c.1197A>T c.(1195-1197)aaA>aaT p.K399N NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 399 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 CTGTGAAAAAAGCCAAGTGGC 0.448000 29 32 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546631 11546631 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr12:11546631G>T ENST00000389362.4 - 3 416 c.381C>A c.(379-381)aaC>aaA p.N127K PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) CTTGAGGCTGGTTGCCTCCTT 0.602000 14 331 1.15088e-07 1.44903e-07 1 1 0 PTPRD 5789 broad.mit.edu 37 9 8436684 8436684 + Missense_Mutation SNP C C G TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr9:8436684C>G ENST00000381196.4 - 32 4537 c.3994G>C c.(3994-3996)Gct>Cct p.A1332P PTPRD_ENST00000355233.5_Missense_Mutation_p.A926P|PTPRD_ENST00000397606.3_Missense_Mutation_p.A925P|PTPRD_ENST00000397611.3_Missense_Mutation_p.A922P|PTPRD_ENST00000397617.3_Missense_Mutation_p.A925P|PTPRD_ENST00000540109.1_Missense_Mutation_p.A1332P|PTPRD_ENST00000360074.4_Missense_Mutation_p.A1319P|PTPRD_ENST00000537002.1_Missense_Mutation_p.A922P|PTPRD_ENST00000358503.5_Missense_Mutation_p.A1310P|PTPRD_ENST00000486161.1_Missense_Mutation_p.A925P|PTPRD_ENST00000356435.5_Missense_Mutation_p.A1332P NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1332 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGATGGCTAGCCATACCTATT 0.343000 TSP Lung(15;0.13) 13 27 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518313 113518313 + Missense_Mutation SNP G G T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr7:113518313G>T ENST00000284601.3 - 4 2902 c.2834C>A c.(2833-2835)cCt>cAt p.P945H NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 945 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 CGTAGAAATAGGTTGGCTAGC 0.378000 22 50 1.10513e-12 1.48369e-12 1 1 0 PAQR6 79957 broad.mit.edu 37 1 156213983 156213983 + Frame_Shift_Del DEL G G - TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr1:156213983delG ENST00000335852.1 - 7 1340 c.725delC c.(724-726)cafs p.P242fs PAQR6_ENST00000356983.2_Frame_Shift_Del_p.P242fs|PAQR6_ENST00000368270.1_Frame_Shift_Del_p.P300fs|PAQR6_ENST00000292291.5_Frame_Shift_Del_p.P324fs|PAQR6_ENST00000540423.1_Frame_Shift_Del_p.P321fs|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000360733.2_Frame_Shift_Del_p.P242fs NM_024897.2 NP_079173.2 Q6TCH4 PAQR6_HUMAN progestin and adipoQ receptor family member VI 95 HLP -> QTD (in Ref. 1; AAP97703). integral to membrane receptor activity lung(4)|ovary(1) 5 Hepatocellular(266;0.158) GGCATGTACTGGGGGCCCGAA 0.647 7 66 --- --- --- --- EXOC6B 23233 broad.mit.edu 37 2 72960228 72960228 + Frame_Shift_Del DEL T T - TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr2:72960228delT ENST00000272427.6 - 3 429 c.299delA c.(298-300)atfs p.N100fs EXOC6B_ENST00000410104.1_Frame_Shift_Del_p.N100fs NM_015189.1 NP_056004.1 Q9Y2D4 EXC6B_HUMAN exocyst complex component 6B 100 protein transport|vesicle docking involved in exocytosis exocyst breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 10 TAGTTTTCTATTAGTATCCGT 0.294 2 4 --- --- --- --- BCHE 590 broad.mit.edu 37 3 165547504 165547505 + Frame_Shift_Ins INS - - T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr3:165547504_165547505insT ENST00000264381.3 - 2 1483_1484 c.1317_1318insA c.(1315-1320)gaggggfs p.EG439fs BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 439 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TTATTTCCCCATTCTGAGAACT 0.431 19 53 --- --- --- --- SMAD1 4086 broad.mit.edu 37 4 146461025 146461026 + Frame_Shift_Ins INS - - T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr4:146461025_146461026insT ENST00000515385.1 + 3 1012_1013 c.470_471insT c.(469-471)caafs p.Q157fs SMAD1_ENST00000394092.2_Frame_Shift_Ins_p.Q157fs|SMAD1_ENST00000302085.4_Frame_Shift_Ins_p.Q157fs Q15797 SMAD1_HUMAN SMAD family member 1 157 BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|nuclear inner membrane co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 17 all_hematologic(180;0.151) GCTCAGTTCCGTAACTTAGGAC 0.475 29 33 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65150814 65150815 + RNA INS - - C TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr7:65150814_65150815insC ENST00000430126.2 + 0 757 TCTTCATCCCTCACCCCCCCCC 0.460 4 3 --- --- --- --- FAM131B 9715 broad.mit.edu 37 7 143053924 143053925 + Frame_Shift_Ins INS - - T TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr7:143053924_143053925insT ENST00000409408.1 - 6 2425_2426 c.717_718insA c.(715-720)cacagcfs p.HS239fs FAM131B_ENST00000409222.3_Frame_Shift_Ins_p.HS239fs|FAM131B_ENST00000443739.2_Frame_Shift_Ins_p.HS267fs|FAM131B_ENST00000409346.1_Frame_Shift_Ins_p.HS239fs|FAM131B_ENST00000409578.1_Frame_Shift_Ins_p.HS255fs Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 239 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) CCTGAAGCTGGTTGGGAAGGTC 0.604 37 74 --- --- --- --- ACADS 35 broad.mit.edu 37 12 121164945 121164945 + Frame_Shift_Del DEL C C - TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr12:121164945delC ENST00000242592.4 + 2 314 c.163delC c.(163-165)ccfs p.P55fs ACADS_ENST00000411593.2_Frame_Shift_Del_p.P55fs NM_000017.2 NP_000008.1 P16219 ACADS_HUMAN acyl-CoA dehydrogenase, C-2 to C-3 short chain 55 mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) GGAGTTGTTTCCCATTGCAGC 0.567 24 121 --- --- --- --- PCDH17 27253 broad.mit.edu 37 13 58298986 58298986 + Frame_Shift_Del DEL C C - TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr13:58298986delC ENST00000377918.3 + 4 3064 c.3038delC c.(3037-3039)gcfs p.A1013fs NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 1013 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ATTCTCATTGCCAACGTTAAA 0.473 19 40 --- --- --- --- DCAF7 10238 broad.mit.edu 37 17 61660979 61660980 + Frame_Shift_Del DEL TT TT - TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr17:61660979_61660980delTT ENST00000310827.4 + 6 861_862 c.644_645delTT c.(643-645)afs p.I215fs DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Intron NM_005828.3 NP_005819.3 P61962 DCAF7_HUMAN DDB1 and CUL4 associated factor 7 215 multicellular organismal development CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus protein binding endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 18 AGCACCATCATTTACGAAGACC 0.584 18 42 --- --- --- --- LIF 3976 broad.mit.edu 37 22 30639793 30639793 + Frame_Shift_Del DEL C C - TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chr22:30639793delC ENST00000249075.3 - 3 611 c.456delG c.(454-456)ctfs p.L152fs LIF_ENST00000403987.3_3'UTR NM_002309.4 NP_002300.1 P15018 LIF_HUMAN leukemia inhibitory factor 152 immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding breast(1)|lung(3)|skin(3) 7 Epithelial(10;0.171) ACAGGCGGCACAGCACGTTGC 0.617 7 51 --- --- --- --- FOXP3 50943 broad.mit.edu 37 X 49113260 49113260 + Frame_Shift_Del DEL A A - TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:49113260delA ENST00000376207.4 - 6 782 c.595delT c.(595-597)gcfs p.C199fs FOXP3_ENST00000376197.1_Frame_Shift_Del_p.C149fs|FOXP3_ENST00000518685.1_Frame_Shift_Del_p.C164fs|FOXP3_ENST00000557224.1_Frame_Shift_Del_p.C164fs|FOXP3_ENST00000455775.2_Frame_Shift_Del_p.C199fs|FOXP3_ENST00000376199.2_Frame_Shift_Del_p.C164fs NM_014009.3 NP_054728.2 Q9BZS1 FOXP3_HUMAN forkhead box P3 199 B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen cytoplasm|nucleus|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1) 10 Ovarian(276;0.236) GGCCACTTGCAGACACCATTT 0.632 8 53 --- --- --- --- ENOX2 10495 broad.mit.edu 37 X 129765463 129765463 + Frame_Shift_Del DEL C C - TCGA-62-A46R-01A-11D-A24D-08 TCGA-62-A46R-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9d5881b8-f387-4659-95ea-44f752878f39 6f44a3d0-7e71-4879-b098-2eb3cb44d189 g.chrX:129765463delC ENST00000338144.3 - 14 2011 c.1594delG c.(1594-1596)aafs p.E532fs ENOX2_ENST00000394363.1_Frame_Shift_Del_p.E503fs|ENOX2_ENST00000370935.1_Frame_Shift_Del_p.E503fs|ENOX2_ENST00000370927.1_Frame_Shift_Del_p.E532fs NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 532 cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 GCTTCACGTTCAGATTTGATA 0.478 19 86 --- --- --- ---