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 HIVEP2 3097 broad.mit.edu 37 6 143081724 143081724 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:143081724C>T ENST00000367603.2 - 9 6443 c.5701G>A c.(5701-5703)Gag>Aag p.E1901K HIVEP2_ENST00000367604.1_Missense_Mutation_p.E1901K|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E1901K NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1901 Asp/Glu-rich (acidic). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) tcTGATTCCTCAGCATCGGAG 0.388000 14 44 0 0 1 0 0 IGHV3OR16-8 388255 broad.mit.edu 37 16 33020795 33020795 + RNA SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr16:33020795C>T ENST00000565407.2 + 0 203 RP11-19N8.2_ENST00000567619.1_RNA GAGTGGGTTTCATACATTAGT 0.532000 119 269 0 0 1 0 0 CLDN8 9073 broad.mit.edu 37 21 31588054 31588054 + Missense_Mutation SNP A A G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr21:31588054A>G ENST00000399899.1 - 1 337 c.190T>C c.(190-192)Tgc>Cgc p.C64R CLDN8_ENST00000286809.1_Missense_Mutation_p.C64R NM_199328.2 NP_955360.1 P56748 CLD8_HUMAN claudin 8 64 calcium-independent cell-cell adhesion endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity NS(1)|endometrium(2)|large_intestine(6)|lung(6) 15 TAGATTTTGCACTGCATCCTG 0.488000 19 83 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108205823 108205823 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:108205823G>A ENST00000278616.4 + 55 8523 c.8138G>A c.(8137-8139)aGa>aAa p.R2713K ATM_ENST00000452508.2_Missense_Mutation_p.R2713K|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2713 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.R2713K(1) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AAGGAGAGGAGACAGCTTGTT 0.378000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 37 28 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119923722 119923722 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:119923722G>C ENST00000361035.4 + 3 336 c.53G>C c.(52-54)tGt>tCt p.C18S HAO2_ENST00000325945.3_Missense_Mutation_p.C5S Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 5 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) TCCTTGGTGTGTTTGACAGAC 0.483000 38 168 0 0 1 0 0 TEK 7010 broad.mit.edu 37 9 27190538 27190538 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr9:27190538C>A ENST00000380036.4 + 10 1781 c.1339C>A c.(1339-1341)Ccc>Acc p.P447T TEK_ENST00000519097.1_Missense_Mutation_p.P300T|TEK_ENST00000406359.4_Missense_Mutation_p.P404T NM_000459.3 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 447 Fibronectin type-III 1. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) TCTTCCAAAGCCCCTGAATGC 0.413000 48 149 4.78724e-31 5.68895e-31 1 1 0 KRT5 3852 broad.mit.edu 37 12 52910921 52910921 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr12:52910921C>T ENST00000252242.4 - 6 1578 c.1188G>A c.(1186-1188)ctG>ctA p.L396L NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 396 Coil 2.|Rod. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) TCTCGGCTCTCAGCCTCTGGA 0.493000 28 89 0 0 1 0 0 STX7 8417 broad.mit.edu 37 6 132789599 132789599 + Missense_Mutation SNP T T C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:132789599T>C ENST00000367941.2 - 8 666 c.553A>G c.(553-555)Att>Gtt p.I185V STX7_ENST00000367937.4_Missense_Mutation_p.I185V NM_003569.2 NP_003560.2 O15400 STX7_HUMAN syntaxin 7 185 t-SNARE coiled-coil homology. intracellular protein transport|post-Golgi vesicle-mediated transport early endosome membrane|integral to membrane SNAP receptor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5) 19 Breast(56;0.0615) OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114) ATTTCATTAATATCCATAATA 0.323000 9 58 0 0 1 0 0 PRKRIP1 79706 broad.mit.edu 37 7 102038121 102038121 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr7:102038121C>G ENST00000496391.1 + 6 1491 c.181C>G c.(181-183)Cca>Gca p.P61A PRKRIP1_ENST00000397912.3_Missense_Mutation_p.P61A|PRKRIP1_ENST00000462601.1_Intron|PRKRIP1_ENST00000354783.4_Missense_Mutation_p.P23A|PRKRIP1_ENST00000482465.1_3'UTR Q9H875 PKRI1_HUMAN PRKR interacting protein 1 (IL11 inducible) 61 Required for RNA-binding (By similarity). nucleolus endometrium(1)|lung(4)|ovary(1) 6 TCGACCTCCCCCAGAATTTGT 0.423000 34 22 0 0 1 0 0 OR5D16 390144 broad.mit.edu 37 11 55606795 55606795 + Missense_Mutation SNP T T C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:55606795T>C ENST00000378396.1 + 1 568 c.568T>C c.(568-570)Tct>Cct p.S190P NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) GATATCACTCTCTTACCCTGA 0.393000 28 94 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152330002 152330002 + Missense_Mutation SNP T T A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:152330002T>A ENST00000388718.5 - 3 332 c.260A>T c.(259-261)aAg>aTg p.K87M FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 87 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGAGGACCTTGTTGCAGGC 0.438000 12 83 0 0 1 0 0 RNF144A 9781 broad.mit.edu 37 2 7154882 7154882 + Missense_Mutation SNP A A G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:7154882A>G ENST00000320892.6 + 5 722 c.280A>G c.(280-282)Aaa>Gaa p.K94E RNF144A_ENST00000467276.1_Intron NM_014746.3 NP_055561.2 P50876 R144A_HUMAN ring finger protein 144A 94 Golgi apparatus|integral to membrane ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1) 25 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) all_cancers(51;0.226) OV - Ovarian serous cystadenocarcinoma(76;0.195) GCAAAGATATAAAAAGCTACA 0.368000 16 51 0 0 1 0 0 KDM1B 221656 broad.mit.edu 37 6 18171689 18171689 + Missense_Mutation SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:18171689G>T ENST00000388870.2 + 7 754 c.513G>T c.(511-513)atG>atT p.M171I KDM1B_ENST00000397244.1_Missense_Mutation_p.M171I|KDM1B_ENST00000297792.5_Missense_Mutation_p.M171I|KDM1B_ENST00000546309.2_Intron Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 171 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 GATGCGGTATGAAACCAAATA 0.353000 8 96 1.12685e-05 1.18132e-05 1 1 0 ANKRD30BP3 338579 broad.mit.edu 37 10 45652235 45652235 + RNA SNP C C G rs149362183 TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr10:45652235C>G ENST00000427229.2 + 0 1749 GAAGGAACATCTGAAGGAACA 0.478000 7 19 0 0 1 0 0 FUT6 2528 broad.mit.edu 37 19 5832467 5832467 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:5832467G>C ENST00000318336.4 - 3 1306 c.112C>G c.(112-114)Caa>Gaa p.Q38E FUT6_ENST00000527106.1_Missense_Mutation_p.Q38E|FUT6_ENST00000286955.5_Missense_Mutation_p.Q38E|FUT6_ENST00000592563.1_Missense_Mutation_p.Q38E|FUT6_ENST00000524754.1_Missense_Mutation_p.Q38E NM_000150.2 NP_000141.1 P51993 FUT6_HUMAN fucosyltransferase 6 (alpha (1,3) fucosyltransferase) 38 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(2) 6 GGATCGTCTTGAGACACACGC 0.612000 6 14 0 0 1 0 0 C11orf35 256329 broad.mit.edu 37 11 555093 555093 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:555093C>T ENST00000329451.3 - 14 1854 c.1792G>A c.(1792-1794)Gac>Aac p.D598N NM_173573.2 NP_775844.2 Q8IXW0 CK035_HUMAN chromosome 11 open reading frame 35 598 NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CAGCTACGGTCCACGCTCTTC 0.751000 10 15 0 0 1 0 0 SLC29A4 222962 broad.mit.edu 37 7 5338675 5338675 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr7:5338675C>T ENST00000396872.3 + 8 1100 c.939C>T c.(937-939)caC>caT p.H313H SLC29A4_ENST00000406453.3_Silent_p.H299H|SLC29A4_ENST00000297195.4_Silent_p.H313H Q7RTT9 S29A4_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 4 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity p.H313H(1) breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) GCCCAGCCCACGAGGTGACCG 0.692000 4 35 0 0 1 0 0 EXOC2 55770 broad.mit.edu 37 6 488986 488986 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:488986C>A ENST00000230449.4 - 27 2809 c.2674G>T c.(2674-2676)Gat>Tat p.D892Y EXOC2_ENST00000448181.3_Missense_Mutation_p.D487Y NM_018303.5 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 892 exocytosis|protein transport breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) TACTTTTTATCTGCTCCACTG 0.423000 138 71 9.55336e-64 1.13918e-63 1 1 0 ESAM 90952 broad.mit.edu 37 11 124623702 124623702 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:124623702G>C ENST00000278927.5 - 7 1142 c.1013C>G c.(1012-1014)tCc>tGc p.S338C ESAM_ENST00000442070.2_Intron NM_138961.2 NP_620411.2 Q96AP7 ESAM_HUMAN endothelial cell adhesion molecule 338 blood coagulation|leukocyte migration adherens junction|integral to membrane|tight junction endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022) GGCCTGGCTGGAGAGACTGGG 0.647000 24 8 0 0 1 0 0 LRRC8B 23507 broad.mit.edu 37 1 90048487 90048487 + Missense_Mutation SNP T T A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:90048487T>A ENST00000330947.2 + 5 638 c.278T>A c.(277-279)aTt>aAt p.I93N LRRC8B_ENST00000439853.1_Missense_Mutation_p.I93N|LRRC8B_ENST00000358200.4_Missense_Mutation_p.I93N NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 93 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) CCCCTCCGAATTCAGAATGAC 0.507000 16 91 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143614663 143614663 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr8:143614663C>T ENST00000517894.1 + 25 4300 c.3406C>T c.(3406-3408)Ctg>Ttg p.L1136L BAI1_ENST00000323289.5_Silent_p.L1136L O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1136 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGGGCCTCCCTGTGGAGCTC 0.716000 5 0 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35512649 35512649 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:35512649G>A ENST00000353139.5 - 43 5884 c.5403C>T c.(5401-5403)ctC>ctT p.L1801L ACACA_ENST00000394406.2_Silent_p.L1764L|ACACA_ENST00000361253.5_5'UTR|ACACA_ENST00000335166.5_Silent_p.L1686L|ACACA_ENST00000360679.3_Silent_p.L1706L NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1764 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding p.L1801L(1)|p.L1706L(1) NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GGACAGAGTTGAGAGCACTGA 0.358000 63 116 0 0 1 0 0 ATAD1 84896 broad.mit.edu 37 10 89544297 89544297 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr10:89544297C>T ENST00000308448.7 - 5 891 c.513G>A c.(511-513)caG>caA p.Q171Q ATAD1_ENST00000328142.3_Silent_p.Q171Q|ATAD1_ENST00000541004.1_Silent_p.Q171Q|ATAD1_ENST00000400215.3_Silent_p.Q113Q NM_032810.2 NP_116199.2 Q8NBU5 ATAD1_HUMAN ATPase family, AAA domain containing 1 171 peroxisome ATP binding|nucleoside-triphosphatase activity kidney(1)|large_intestine(4)|lung(4)|ovary(1) 10 all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224) UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235) CAGCCAATTTCTGAGATTCTC 0.408000 74 61 0 0 1 0 0 AKR1C3 8644 broad.mit.edu 37 10 5138757 5138757 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr10:5138757C>G ENST00000380554.3 + 2 892 c.240C>G c.(238-240)ttC>ttG p.F80L AKR1C3_ENST00000605149.1_Missense_Mutation_p.F57L|AKR1C3_ENST00000470862.2_3'UTR|AKR1C3_ENST00000439082.2_5'UTR NM_001253908.1|NM_003739.5 NP_001240837.1|NP_003730.4 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 80 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) AAGACATATTCTACACTTCAA 0.413000 44 71 0 0 1 0 0 SCAMP3 10067 broad.mit.edu 37 1 155226076 155226076 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:155226076G>A ENST00000355379.3 - 8 1232 c.954C>T c.(952-954)ttC>ttT p.F318F SCAMP3_ENST00000302631.3_Silent_p.F344F|SCAMP3_ENST00000472397.1_5'UTR NM_052837.2 NP_443069.1 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 344 post-Golgi vesicle-mediated transport|protein transport integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1) 19 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ACGGGGCCCGGAAGGCATTTT 0.607000 36 96 0 0 1 0 0 ZNF382 84911 broad.mit.edu 37 19 37118246 37118246 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:37118246C>T ENST00000435416.1 + 3 2939 c.1444C>T c.(1444-1446)Cac>Tac p.H482Y ZNF382_ENST00000423582.1_Missense_Mutation_p.H434Y|ZNF382_ENST00000292928.2_Missense_Mutation_p.H483Y|ZNF382_ENST00000439428.1_Missense_Mutation_p.H482Y Q96SR6 ZN382_HUMAN zinc finger protein 382 483 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 34 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CACTGTTCATCACAGAATACA 0.458000 25 38 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418771 105418771 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr14:105418771G>A ENST00000333244.5 - 7 3136 c.3017C>T c.(3016-3018)cCg>cTg p.P1006L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1006 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCCGAACGACGGCATCTTGAA 0.612000 135 269 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237711775 237711775 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:237711775G>C ENST00000366574.2 + 26 3268 c.2951G>C c.(2950-2952)aGc>aCc p.S984T RYR2_ENST00000542537.1_Missense_Mutation_p.S968T|RYR2_ENST00000360064.6_Missense_Mutation_p.S982T NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 984 4 X approximate repeats. 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) ATGGACCTGAGCTTTATCAAA 0.453000 3 35 0 0 1 0 0 HSD3B1 3283 broad.mit.edu 37 1 120056868 120056868 + Missense_Mutation SNP A A T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:120056868A>T ENST00000235547.6 + 4 867 c.728A>T c.(727-729)cAg>cTg p.Q243L HSD3B1_ENST00000369413.3_Missense_Mutation_p.Q241L|HSD3B1_ENST00000528909.1_Missense_Mutation_p.Q241L NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 241 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) AGGGCCCTGCAGGACCCCAAG 0.502000 15 104 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176525994 176525994 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:176525994C>A ENST00000367662.3 + 2 1700 c.536C>A c.(535-537)aCc>aAc p.T179N PAPPA2_ENST00000367661.3_Missense_Mutation_p.T179N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 179 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 ATTTTCACAACCCTGAACGAA 0.582000 8 88 2.74318e-10 3.07059e-10 1 1 0 COL22A1 169044 broad.mit.edu 37 8 139609162 139609162 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr8:139609162C>A ENST00000303045.6 - 62 4863 c.4417G>T c.(4417-4419)Ggg>Tgg p.G1473W COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1453W NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1473 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) AGCTGCTTCCCCAGCTCTTCT 0.517000 HNSCC(7;0.00092) 33 149 2.42023e-17 2.7901e-17 1 1 0 CLSTN1 22883 broad.mit.edu 37 1 9794120 9794120 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:9794120G>A ENST00000377298.4 - 15 2983 c.2191C>T c.(2191-2193)Cac>Tac p.H731Y CLSTN1_ENST00000377288.3_Missense_Mutation_p.H712Y|CLSTN1_ENST00000361311.4_Missense_Mutation_p.H721Y NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 731 homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) TCCTGCTCGTGGTTCAGCTCC 0.582000 15 49 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18499583 18499583 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr12:18499583G>C ENST00000433979.1 + 11 1554 c.1438G>C c.(1438-1440)Gag>Cag p.E480Q PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E480Q|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.E480Q|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E480Q NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 480 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) AGGCTTGATAGAGAAGGTAAC 0.363000 12 91 0 0 1 0 0 NKTR 4820 broad.mit.edu 37 3 42680096 42680096 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr3:42680096C>T ENST00000232978.8 + 13 3088 c.2900C>T c.(2899-2901)tCg>tTg p.S967L RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 967 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity p.S967L(1) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) TGTTCCAATTCGGAAAACAAT 0.408000 17 72 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166848640 166848640 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:166848640G>C ENST00000423058.2 - 26 5162 c.5145C>G c.(5143-5145)atC>atG p.I1715M AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.I1715M|SCN1A_ENST00000409050.1_Missense_Mutation_p.I1687M|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.I1704M NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1715 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGAATAGGCAGATCATGCTGT 0.463000 78 85 0 0 1 0 0 ZNF569 148266 broad.mit.edu 37 19 37904259 37904259 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:37904259C>G ENST00000316950.6 - 6 1858 c.1301G>C c.(1300-1302)aGa>aCa p.R434T ZNF569_ENST00000392150.2_Missense_Mutation_p.R275T|ZNF569_ENST00000392149.2_Missense_Mutation_p.R434T NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGGTTTCTCTCTAGTATGAAT 0.368000 6 90 0 0 1 0 0 HNRNPM 4670 broad.mit.edu 37 19 8551106 8551106 + Silent SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:8551106G>T ENST00000348943.3 + 15 1909 c.1677G>T c.(1675-1677)ccG>ccT p.P559P HNRNPM_ENST00000325495.4_Silent_p.P598P NM_031203.3 NP_112480.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 598 27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV]. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 CCATGGGCCCGGCCCTGGGCG 0.701000 17 48 6.94344e-10 7.74719e-10 1 1 0 SLC4A8 9498 broad.mit.edu 37 12 51882559 51882559 + Missense_Mutation SNP T T C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr12:51882559T>C ENST00000453097.2 + 18 2580 c.2363T>C c.(2362-2364)aTc>aCc p.I788T SLC4A8_ENST00000358657.3_Missense_Mutation_p.I815T NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 788 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) GCTGCAATTATCCCAGCTCTT 0.418000 33 60 0 0 1 0 0 TBC1D19 55296 broad.mit.edu 37 4 26741578 26741578 + Missense_Mutation SNP A A G rs144542050 byFrequency TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr4:26741578A>G ENST00000264866.4 + 17 1488 c.1210A>G c.(1210-1212)Atc>Gtc p.I404V TBC1D19_ENST00000511789.1_Missense_Mutation_p.I339V NM_018317.2 NP_060787.2 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 404 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 17 Breast(46;0.0503) ACTCCATTCCATCTCTTCTCA 0.338000 25 50 0 0 1 0 0 CLRN2 645104 broad.mit.edu 37 4 17528627 17528627 + Silent SNP G G C rs142972921 by1000genomes TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr4:17528627G>C ENST00000511148.2 + 3 723 c.621G>C c.(619-621)gcG>gcC p.A207A NM_001079827.2 NP_001073296.1 A0PK11 CLRN2_HUMAN clarin 2 207 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1) 15 TCGTGGTGGCGATCAGTCAAA 0.507000 18 51 0 0 1 0 0 PKN3 29941 broad.mit.edu 37 9 131482233 131482233 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr9:131482233C>T ENST00000291906.4 + 20 2706 c.2313C>T c.(2311-2313)atC>atT p.I771I PKN3_ENST00000485301.1_3'UTR NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 771 Protein kinase. signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 TTGACTGCATCGTCAACATGG 0.637000 49 44 0 0 1 0 0 SERPINC1 462 broad.mit.edu 37 1 173878936 173878936 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:173878936C>G ENST00000367698.3 - 5 1025 c.907G>C c.(907-909)Gag>Cag p.E303Q NM_000488.3 NP_000479.1 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C (antithrombin), member 1 303 Missing (in AT3D; type-I). blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1) 25 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) AAGGGCAACTCAAGCACCTGG 0.537000 45 49 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 170003619 170003619 + Silent SNP T T C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:170003619T>C ENST00000367765.1 - 7 2017 c.516A>G c.(514-516)ggA>ggG p.G172G KIFAP3_ENST00000367767.1_Silent_p.G168G|KIFAP3_ENST00000538366.1_Silent_p.G134G|KIFAP3_ENST00000361580.2_Silent_p.G212G NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 212 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GAGTAATAAGTCCATGAAATT 0.294000 14 53 0 0 1 0 0 ARHGAP12 94134 broad.mit.edu 37 10 32197273 32197273 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr10:32197273G>A ENST00000375250.5 - 3 752 c.511C>T c.(511-513)Cag>Tag p.Q171* ARHGAP12_ENST00000311380.4_Nonsense_Mutation_p.Q171*|ARHGAP12_ENST00000396144.4_Nonsense_Mutation_p.Q171*|ARHGAP12_ENST00000344936.2_Nonsense_Mutation_p.Q171*|ARHGAP12_ENST00000375245.4_Nonsense_Mutation_p.Q171* NM_001270696.1|NM_001270698.1 NP_001257625.1|NP_001257627.1 Q8IWW6 RHG12_HUMAN Rho GTPase activating protein 12 171 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2) 31 Prostate(175;0.0199) GTCCTATTCTGGCTGGAAACT 0.443000 4 123 0 0 1 0 0 GCFC2 6936 broad.mit.edu 37 2 75900572 75900572 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:75900572C>G ENST00000321027.3 - 13 2020 c.1887G>C c.(1885-1887)aaG>aaC p.K629N MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000541687.1_3'UTR|GCFC2_ENST00000409857.3_Missense_Mutation_p.K591N NM_001201334.1|NM_003203.4 NP_001188263.1|NP_003194.3 P16383 GCF_HUMAN GC-rich sequence DNA-binding factor 2 629 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity GCGCTTACCTCTTTGGATACA 0.294000 13 64 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34054808 34054808 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr20:34054808G>A ENST00000397527.1 + 8 1230 c.510G>A c.(508-510)ctG>ctA p.L170L CEP250_ENST00000397524.1_Silent_p.L170L|CEP250_ENST00000342580.4_Silent_p.L170L NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 170 centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) AGGGCTACCTGAAAGGGGAGC 0.522000 25 65 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41149424 41149424 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr5:41149424C>G ENST00000263413.3 - 17 2806 c.2542G>C c.(2542-2544)Gaa>Caa p.E848Q C6_ENST00000337836.5_Missense_Mutation_p.E848Q NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 848 C5b-binding domain. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTTGTCCTTTCAAGACCCCAT 0.428000 59 143 0 0 1 0 0 MAPK15 225689 broad.mit.edu 37 8 144804292 144804292 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr8:144804292C>T ENST00000338033.4 + 14 1625 c.1506C>T c.(1504-1506)ttC>ttT p.F502F NM_139021.2 NP_620590.2 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 502 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GGAGGATGTTCAGCACCTCTG 0.667000 6 62 0 0 1 0 0 MADD 8567 broad.mit.edu 37 11 47304093 47304093 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:47304093G>A ENST00000342922.4 + 9 1988 c.1631G>A c.(1630-1632)aGg>aAg p.R544K MADD_ENST00000395336.3_Missense_Mutation_p.R544K|MADD_ENST00000406482.1_Missense_Mutation_p.R544K|MADD_ENST00000402192.2_Missense_Mutation_p.R544K|MADD_ENST00000402799.1_Missense_Mutation_p.R544K|MADD_ENST00000407859.3_Missense_Mutation_p.R544K|MADD_ENST00000349238.3_Missense_Mutation_p.R544K|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000311027.5_Missense_Mutation_p.R544K|MADD_ENST00000395344.3_Missense_Mutation_p.R544K NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 544 dDENN. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) AAATTGGCCAGGACTCAGGCT 0.557000 9 37 0 0 1 0 0 TTC5 91875 broad.mit.edu 37 14 20768970 20768970 + Silent SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr14:20768970G>C ENST00000258821.3 - 3 248 c.192C>G c.(190-192)gtC>gtG p.V64V NM_138376.2 NP_612385.2 Q8N0Z6 TTC5_HUMAN tetratricopeptide repeat domain 5 64 DNA repair cytoplasm|nucleus binding endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_cancers(95;0.00092) Epithelial(56;1.1e-06)|all cancers(55;8.07e-06) GBM - Glioblastoma multiforme(265;0.0106) CCTTGCCCTGGACAGAACCTA 0.418000 25 100 0 0 1 0 0 SLC38A3 10991 broad.mit.edu 37 3 50252876 50252876 + RNA SNP T T A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr3:50252876T>A ENST00000420502.1 + 0 511 Q99624 S38A3_HUMAN solute carrier family 38, member 3 cellular nitrogen compound metabolic process|sodium ion transport integral to plasma membrane antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity breast(1)|cervix(1)|endometrium(1)|lung(3) 6 BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615) L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117) GCTACTCAAGTCCTCAGGGGT 0.587000 7 38 0 0 1 0 0 CASC4 113201 broad.mit.edu 37 15 44615185 44615185 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr15:44615185C>T ENST00000299957.6 + 2 649 c.350C>T c.(349-351)tCg>tTg p.S117L CASC4_ENST00000360824.3_Missense_Mutation_p.S117L|CASC4_ENST00000345795.2_Missense_Mutation_p.S117L NM_138423.3 NP_612432.2 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 117 integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) AACAACATATCGTATCAGATG 0.284000 12 66 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19721463 19721463 + Silent SNP A A G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr5:19721463A>G ENST00000507958.1 - 7 1626 c.636T>C c.(634-636)ccT>ccC p.P212P CDH18_ENST00000274170.4_Silent_p.P212P|CDH18_ENST00000506372.1_Silent_p.P212P|CDH18_ENST00000502796.1_Silent_p.P212P|CDH18_ENST00000511273.1_Silent_p.P212P|CDH18_ENST00000382275.1_Silent_p.P212P Q13634 CAD18_HUMAN cadherin 18, type 2 212 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) AACCTGTTTTAGGGTCGACGG 0.443000 23 154 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51516024 51516024 + Missense_Mutation SNP T T C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:51516024T>C ENST00000328188.1 + 1 743 c.743T>C c.(742-744)tTc>tCc p.F248S NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 248 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 GTCATCTTATTCTTTGTGCCC 0.438000 28 106 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25470548 25470548 + Missense_Mutation SNP C C G rs143979354 TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:25470548C>G ENST00000264709.3 - 8 1263 c.926G>C c.(925-927)cGc>cCc p.R309P DNMT3A_ENST00000321117.5_Missense_Mutation_p.R309P|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R120P|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R86P NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 309 Interaction with DNMT1 and DNMT3B.|PWWP. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGACACAATGCGGCCTGGCCA 0.617000 """Mis, F, N, S""" AML 10 37 0 0 1 0 0 WDR52 55779 broad.mit.edu 37 3 113098266 113098266 + Nonsense_Mutation SNP T T A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr3:113098266T>A ENST00000393845.2 - 17 2251 c.2185A>T c.(2185-2187)Aaa>Taa p.K729* WDR52_ENST00000295868.2_Nonsense_Mutation_p.K729* NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 729 Glu-rich. breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 tcctcctctttctcctcttcc 0.463000 9 53 0 0 1 0 0 CD1A 909 broad.mit.edu 37 1 158225084 158225084 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:158225084G>A ENST00000289429.5 + 2 802 c.269G>A c.(268-270)cGc>cAc p.R90H NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 90 Glycolipid binding. 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) TTCCGTATACGCACCATTCGG 0.488000 9 80 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32717339 32717339 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chrX:32717339G>A ENST00000357033.4 - 8 927 c.721C>T c.(721-723)Caa>Taa p.Q241* DMD_ENST00000378677.2_Nonsense_Mutation_p.Q237*|DMD_ENST00000288447.4_Nonsense_Mutation_p.Q233* NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 241 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTCACTTGTTGAGGCAAAACT 0.388000 32 20 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140735312 140735312 + Missense_Mutation SNP T T G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr5:140735312T>G ENST00000571252.1 + 1 545 c.545T>G c.(544-546)gTg>gGg p.V182G PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018917.2 NP_061740 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCTGGACGTGCAAAGTGGG 0.547000 3 26 0 0 1 0 0 WDR52 55779 broad.mit.edu 37 3 113098267 113098267 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr3:113098267C>T ENST00000393845.2 - 17 2250 c.2184G>A c.(2182-2184)gaG>gaA p.E728E WDR52_ENST00000295868.2_Silent_p.E728E NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 728 Glu-rich. breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 cctcctctttctcctcttcct 0.463000 9 55 0 0 1 0 0 UNC13D 201294 broad.mit.edu 37 17 73830165 73830165 + Silent SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:73830165C>G ENST00000207549.4 - 24 2737 c.2358G>C c.(2356-2358)ctG>ctC p.L786L UNC13D_ENST00000412096.2_Silent_p.L786L NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 786 positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) CATCCTCAGGCAGGACAGACT 0.572000 Familial Hemophagocytic Lymphohistiocytosis 6 34 0 0 1 0 0 CIRH1A 84916 broad.mit.edu 37 16 69184546 69184546 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr16:69184546C>T ENST00000563094.1 + 7 879 c.845C>T c.(844-846)cCg>cTg p.P282L CIRH1A_ENST00000569615.2_3'UTR|CIRH1A_ENST00000352319.4_Missense_Mutation_p.P282L|CIRH1A_ENST00000314423.7_Missense_Mutation_p.P282L Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) 282 nucleolus protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) CGGACAAAACCGTTCCAGCAT 0.572000 OREG0023906 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 31 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107979220 107979220 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chrX:107979220G>A ENST00000372129.2 - 1 431 c.355C>T c.(355-357)Cgg>Tgg p.R119W NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 119 PH. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 ACACTGTGCCGGAACTTCCTG 0.657000 3 30 0 0 1 0 0 ZNF785 146540 broad.mit.edu 37 16 30594313 30594313 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr16:30594313C>A ENST00000395216.2 - 3 945 c.786G>T c.(784-786)aaG>aaT p.K262N AC002310.7_ENST00000492040.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.K247N NM_152458.6 NP_689671.2 A8K8V0 ZN785_HUMAN zinc finger protein 785 262 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 TGAAGCGACTCTTGCAGTCTG 0.657000 12 29 3.07112e-06 3.22933e-06 1 1 0 INADL 10207 broad.mit.edu 37 1 62327290 62327290 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:62327290C>T ENST00000371158.2 + 19 2504 c.2390C>T c.(2389-2391)tCa>tTa p.S797L INADL_ENST00000316485.6_Missense_Mutation_p.S797L NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 797 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 ACTGAATTTTCAGGAACAATT 0.254000 63 120 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216462698 216462698 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:216462698G>A ENST00000366943.2 - 11 2281 c.1895C>T c.(1894-1896)cCt>cTt p.P632L USH2A_ENST00000307340.3_Missense_Mutation_p.P632L|USH2A_ENST00000366942.3_Missense_Mutation_p.P632L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 632 Laminin EGF-like 2. 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) TATGGCCGAAGGATCTGCACC 0.408000 HNSCC(13;0.011) 27 40 0 0 1 0 0 MYB 4602 broad.mit.edu 37 6 135515530 135515530 + Nonsense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:135515530C>T ENST00000341911.5 + 8 1079 c.880C>T c.(880-882)Cga>Tga p.R294* MYB_ENST00000367814.4_Nonsense_Mutation_p.R294*|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000528774.1_Nonsense_Mutation_p.R294*|MYB_ENST00000420123.2_Nonsense_Mutation_p.R270*|MYB_ENST00000534044.1_Nonsense_Mutation_p.R294*|MYB_ENST00000527615.1_Nonsense_Mutation_p.R294*|MYB_ENST00000442647.2_Nonsense_Mutation_p.R294*|MYB_ENST00000525369.1_Nonsense_Mutation_p.R294*|MYB_ENST00000533624.1_Intron|MYB_ENST00000534121.1_Nonsense_Mutation_p.R294*|MYB_ENST00000316528.8_Nonsense_Mutation_p.R294* NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 294 Transcriptional activation domain. blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) GAAGGAAAAGCGAATAAAGGA 0.403000 T NFIB adenoid cystic carcinoma 16 46 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33575451 33575451 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr20:33575451C>T ENST00000262873.7 + 15 1457 c.1365C>T c.(1363-1365)taC>taT p.Y455Y NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 413 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GGAACGAGTACGTGACCAAGG 0.662000 18 79 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34501151 34501151 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr9:34501151G>A ENST00000242317.4 + 12 1206 c.1035G>A c.(1033-1035)agG>agA p.R345R NM_001281428.1|NM_012144.2 NP_001268357.1|NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 345 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) CAAAGTACAGGGATCTGTTTG 0.433000 Kartagener syndrome 38 122 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 4 123 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57646888 57646888 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:57646888G>C ENST00000269834.1 - 5 1202 c.817C>G c.(817-819)Cat>Gat p.H273D NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 273 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTGGCATTATGAATTTTCTCA 0.363000 57 55 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18650645 18650645 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr12:18650645G>A ENST00000433979.1 + 21 2972 c.2856G>A c.(2854-2856)atG>atA p.M952I PIK3C2G_ENST00000266497.5_Missense_Mutation_p.M952I|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.M993I NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 952 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) ATATGCAAATGATCATTTATA 0.388000 4 26 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47426694 47426694 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr14:47426694C>T ENST00000426342.1 - 9 1824 c.1078G>A c.(1078-1080)Gac>Aac p.D360N MDGA2_ENST00000357362.3_Missense_Mutation_p.D360N|MDGA2_ENST00000439988.3_Missense_Mutation_p.D658N|MDGA2_ENST00000399232.2_Missense_Mutation_p.D589N NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 589 Ig-like 4. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TCCTGAGAGTCAAATTGACCC 0.443000 45 59 0 0 1 0 0 VPS26B 112936 broad.mit.edu 37 11 134114896 134114896 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:134114896C>T ENST00000281187.5 + 5 1264 c.786C>T c.(784-786)atC>atT p.I262I VPS26B_ENST00000525095.2_Silent_p.I262I NM_052875.3 NP_443107.1 Q4G0F5 VP26B_HUMAN vacuolar protein sorting 26 homolog B (S. pombe) 262 protein transport|vacuolar transport cytosol|retromer complex breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7) 14 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216) TGCGGGACATCAACAAGAAGT 0.612000 OREG0021548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 14 0 0 1 0 0 LMNA 4000 broad.mit.edu 37 1 156084881 156084881 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:156084881G>A ENST00000368300.4 + 1 384 c.172G>A c.(172-174)Ggg>Agg p.G58R LMNA_ENST00000347559.2_Missense_Mutation_p.G58R|LMNA_ENST00000368301.2_Missense_Mutation_p.G58R|LMNA_ENST00000361308.4_Missense_Mutation_p.G58R|LMNA_ENST00000368299.3_Missense_Mutation_p.G58R NM_170707.3 NP_733821.1 P02545 LMNA_HUMAN lamin A/C 58 Coil 1A.|Interaction with MLIP.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) GGAGAACGCAGGGCTGCGCCT 0.652000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 7 7 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17552802 17552802 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:17552802C>A ENST00000005226.7 - 4 285 c.286G>T c.(286-288)Gaa>Taa p.E96* USH1C_ENST00000527720.1_Nonsense_Mutation_p.E65*|USH1C_ENST00000527020.1_Nonsense_Mutation_p.E96*|USH1C_ENST00000318024.4_Nonsense_Mutation_p.E96* NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 96 PDZ 1. equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 CCGAGGCCTTCGGGGTGCAGA 0.652000 10 24 0.00136819 0.00140463 1 1 0 PTX4 390667 broad.mit.edu 37 16 1535941 1535941 + Nonstop_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr16:1535941C>G ENST00000447419.2 - 3 1461 c.1436G>C c.(1435-1437)tGa>tCa p.*479S PTX4_ENST00000293922.1_Nonstop_Mutation_p.*474S|PTX4_ENST00000440447.2_3'UTR Q96A99 PTX4_HUMAN pentraxin 4, long 0 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GGCTCGGCCTCAGGGACAGCG 0.657000 6 6 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62299454 62299454 + Missense_Mutation SNP T T A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:62299454T>A ENST00000378024.4 - 5 2709 c.2435A>T c.(2434-2436)aAc>aTc p.N812I AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 812 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GACTTTGATGTTCATCTCAGG 0.453000 58 149 0 0 1 0 0 S100A14 57402 broad.mit.edu 37 1 153587462 153587462 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:153587462C>G ENST00000368702.1 - 5 486 c.214G>C c.(214-216)Ggc>Cgc p.G72R S100A14_ENST00000476873.1_Missense_Mutation_p.G72R|S100A14_ENST00000368700.3_5'UTR|S100A14_ENST00000368701.1_Missense_Mutation_p.G72R|S100A14_ENST00000344616.2_Missense_Mutation_p.G72R Q9HCY8 S10AE_HUMAN S100 calcium binding protein A14 72 calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm calcium ion binding|chemokine receptor binding kidney(2)|large_intestine(1)|lung(1) 4 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) TTGCAGCTGCCCAGGTTGGCA 0.562000 63 69 0 0 1 0 0 IPO9 55705 broad.mit.edu 37 1 201844303 201844303 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:201844303G>A ENST00000361565.4 + 23 3031 c.2962G>A c.(2962-2964)Gag>Aag p.E988K NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 988 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 CGAGGATGATGAGGAAGATGA 0.502000 16 59 0 0 1 0 0 PLCH2 9651 broad.mit.edu 37 1 2422768 2422768 + Silent SNP A A T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:2422768A>T ENST00000449969.1 + 11 1733 c.1572A>T c.(1570-1572)ggA>ggT p.G524G PLCH2_ENST00000378486.3_Silent_p.G551G|PLCH2_ENST00000419816.2_Silent_p.G551G|PLCH2_ENST00000378488.3_Silent_p.G551G|PLCH2_ENST00000288766.5_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 551 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GAAAGCTCGGACGCAAGGTAG 0.597000 9 36 0 0 1 0 0 EP400NL 347918 broad.mit.edu 37 12 132589621 132589621 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr12:132589621G>C ENST00000376625.4 + 1 1082 c.1056G>C c.(1054-1056)caG>caC p.Q352H EP400NL_ENST00000392352.1_Missense_Mutation_p.Q220H|EP400NL_ENST00000389560.2_Missense_Mutation_p.Q283H|EP400NL_ENST00000443539.2_Missense_Mutation_p.Q220H|EP400NL_ENST00000361109.5_Missense_Mutation_p.Q199H EP400 N-terminal like endometrium(1)|lung(1)|prostate(2)|urinary_tract(1) 5 AGATGGCACAGATGAGGAAGC 0.512000 8 20 0 0 1 0 0 ZFAND5 7763 broad.mit.edu 37 9 74971863 74971863 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr9:74971863C>A ENST00000237937.3 - 5 1034 c.477G>T c.(475-477)aaG>aaT p.K159N ZFAND5_ENST00000376960.4_Missense_Mutation_p.K159N|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Missense_Mutation_p.K159N|ZFAND5_ENST00000376962.5_Missense_Mutation_p.K159N NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2 NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1 O76080 ZFAN5_HUMAN zinc finger, AN1-type domain 5 159 DNA binding|zinc ion binding cervix(1)|kidney(2)|lung(2)|prostate(1) 6 GACCAACTTTCTTTCTGCACA 0.408000 9 77 4.68919e-08 5.069e-08 1 1 0 OR13C2 392376 broad.mit.edu 37 9 107367090 107367090 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr9:107367090C>T ENST00000542196.1 - 1 861 c.819G>A c.(817-819)ttG>ttA p.L273L NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 273 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 CGGTAGCATCCAAGTCATCCG 0.418000 25 80 0 0 1 0 0 U2AF1 7307 broad.mit.edu 37 21 44524453 44524453 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr21:44524453C>T ENST00000291552.4 - 2 196 c.104G>A c.(103-105)cGg>cAg p.R35Q U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.R35Q|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR NM_006758.2 NP_006749.1 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxiliary factor 1 35 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding p.R35L(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 126 ATTGTGCAACCGAGAGCACCT 0.353000 Mis """CLL, MDS""" 19 22 0 0 1 0 0 CDC14B 8555 broad.mit.edu 37 9 99284829 99284829 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr9:99284829C>A ENST00000375241.1 - 12 1753 c.1302G>T c.(1300-1302)ttG>ttT p.L434F CDC14B_ENST00000375240.3_Missense_Mutation_p.L434F|CDC14B_ENST00000265659.2_Missense_Mutation_p.L434F|CDC14B_ENST00000481149.1_5'UTR|CDC14B_ENST00000375242.3_Missense_Mutation_p.L397F|CDC14B_ENST00000463569.1_Missense_Mutation_p.L434F|CDC14B_ENST00000375236.1_Missense_Mutation_p.L434F NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 434 activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) TTCTGCTTTTCAAGGCCCGAA 0.418000 20 28 1.9806e-07 2.12776e-07 1 1 0 MED23 9439 broad.mit.edu 37 6 131927674 131927674 + Missense_Mutation SNP T T C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:131927674T>C ENST00000403834.3 - 13 1503 c.1330A>G c.(1330-1332)Aat>Gat p.N444D MED23_ENST00000539158.1_Missense_Mutation_p.N438D|MED23_ENST00000540546.1_Missense_Mutation_p.N444D|MED23_ENST00000368060.3_Missense_Mutation_p.N438D|MED23_ENST00000354577.4_Missense_Mutation_p.N444D|MED23_ENST00000545957.1_Missense_Mutation_p.N79D|MED23_ENST00000368058.1_Missense_Mutation_p.N444D|MED23_ENST00000368053.4_Missense_Mutation_p.N444D|MED23_ENST00000368068.3_Missense_Mutation_p.N438D Q9ULK4 MED23_HUMAN mediator complex subunit 23 438 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) GAGTTGTCATTTTGAGCTTTT 0.343000 25 37 0 0 1 0 0 CELF4 56853 broad.mit.edu 37 18 34854295 34854295 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr18:34854295G>A ENST00000420428.2 - 6 1175 c.780C>T c.(778-780)gcC>gcT p.A260A RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000588597.1_Silent_p.A249A|CELF4_ENST00000601019.1_Silent_p.A259A|CELF4_ENST00000603232.1_Silent_p.A260A|CELF4_ENST00000591287.1_Silent_p.A259A|CELF4_ENST00000361795.5_Silent_p.A259A|CELF4_ENST00000591282.1_Silent_p.A260A|CELF4_ENST00000412753.1_Silent_p.A260A|CELF4_ENST00000334919.5_Silent_p.A250A NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 260 Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 AGGCGCCGTAGGCCCCGAAAG 0.627000 17 79 0 0 1 0 0 KIAA0556 23247 broad.mit.edu 37 16 27784442 27784442 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr16:27784442C>T ENST00000261588.4 + 23 4240 c.4221C>T c.(4219-4221)ctC>ctT p.L1407L NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1407 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 TTCAGCTTCTCACCAGCTGGG 0.433000 6 22 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133402872 133402872 + Missense_Mutation SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:133402872G>T ENST00000329321.3 + 2 1524 c.1055G>T c.(1054-1056)cGg>cTg p.R352L GPR39_ENST00000470071.1_3'UTR|LYPD1_ENST00000397463.2_3'UTR NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 352 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CAGCAGTTTCGGCGGGTGTTC 0.632000 32 29 4.3181e-19 5.01131e-19 1 1 0 OR10J5 127385 broad.mit.edu 37 1 159505442 159505442 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:159505442C>A ENST00000334857.2 - 1 400 c.356G>T c.(355-357)gGg>gTg p.G119V NM_001004469.1 NP_001004469.1 Q8NHC4 O10J5_HUMAN olfactory receptor, family 10, subfamily J, member 5 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(112;0.0429) GCGGTCATACCCCATTGCAGT 0.468000 66 68 1.7104e-27 2.01874e-27 1 1 0 ALDH16A1 126133 broad.mit.edu 37 19 49972189 49972189 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:49972189C>T ENST00000293350.4 + 16 2356 c.2193C>T c.(2191-2193)cgC>cgT p.R731R ALDH16A1_ENST00000455361.2_Silent_p.R680R|ALDH16A1_ENST00000433981.2_Silent_p.R566R|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Silent_p.R568R NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 731 oxidoreductase activity|protein binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) ATCTGACCCGCTGCCTGGCCT 0.562000 46 58 0 0 1 0 0 LENEP 55891 broad.mit.edu 37 1 154966178 154966178 + Missense_Mutation SNP T T C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:154966178T>C ENST00000392487.1 + 1 115 c.95T>C c.(94-96)aTg>aCg p.M32T Q9Y5L5 LENEP_HUMAN lens epithelial protein 32 multicellular organismal development DNA binding lung(2) 2 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GTCATTAAGATGGGCACAGGG 0.612000 8 75 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101938723 101938723 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr15:101938723G>A ENST00000348070.1 - 8 878 c.879C>T c.(877-879)atC>atT p.I293I PCSK6_ENST00000398181.2_Silent_p.I293I|PCSK6_ENST00000358417.3_Silent_p.I293I|PCSK6_ENST00000344273.2_Silent_p.I293I|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Silent_p.I128I NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 294 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGTTGGGTCTGATGCCCAGCG 0.637000 22 41 0 0 1 0 0 C14orf39 317761 broad.mit.edu 37 14 60950464 60950464 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr14:60950464C>T ENST00000321731.3 - 4 337 c.178G>A c.(178-180)Gag>Aag p.E60K NM_174978.2 NP_777638 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 60 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) TCAATTTCCTCATCTGTTGCA 0.279000 5 37 0 0 1 0 0 BTN2A2 10385 broad.mit.edu 37 6 26384103 26384103 + Silent SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:26384103C>G ENST00000356709.4 + 2 165 c.54C>G c.(52-54)ctC>ctG p.L18L BTN2A2_ENST00000352867.2_Silent_p.L18L|BTN2A2_ENST00000469230.1_Silent_p.L18L|BTN2A2_ENST00000432533.2_Silent_p.L18L|BTN2A2_ENST00000416795.2_Silent_p.L18L|BTN2A2_ENST00000482536.1_Silent_p.L18L NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 18 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 tcctcctcctcctgctcctcc 0.587000 3 61 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15756633 15756633 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:15756633C>G ENST00000221307.8 + 3 350 c.303C>G c.(301-303)atC>atG p.I101M CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000586182.2_Intron NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TCGTCCGCATCTTCCACCCCA 0.592000 22 31 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27102186 27102186 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:27102186C>G ENST00000324856.7 + 19 5483 c.5112C>G c.(5110-5112)ttC>ttG p.F1704L ARID1A_ENST00000374152.2_Missense_Mutation_p.F1321L|ARID1A_ENST00000457599.2_Missense_Mutation_p.F1487L|ARID1A_ENST00000540690.1_Missense_Mutation_p.F32L NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1704 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TCATGACCTTCAACCTCAGTC 0.478000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 8 33 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25887025 25887025 + Missense_Mutation SNP G G T rs12218134 TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr10:25887025G>T ENST00000376351.3 + 11 2829 c.2470G>T c.(2470-2472)Gtg>Ttg p.V824L GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 824 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TTATGACCACGTGAGAGACCA 0.498000 32 95 5.91797e-21 6.89106e-21 1 1 0 CENPI 2491 broad.mit.edu 37 X 100402773 100402773 + Silent SNP C C T rs143412234 byFrequency TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chrX:100402773C>T ENST00000372927.1 + 18 2125 c.1848C>T c.(1846-1848)gcC>gcT p.A616A CENPI_ENST00000423383.1_Silent_p.A616A|CENPI_ENST00000218507.5_Silent_p.A616A NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 616 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 ATTTGACTGCCGCAAAGAAAA 0.289000 20 21 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74287416 74287416 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:74287416G>C ENST00000262765.5 - 4 3073 c.2894C>G c.(2893-2895)cCa>cGa p.P965R NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 965 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 TGTTCTATTTGGATCCAAACC 0.517000 25 24 0 0 1 0 0 ARNT 405 broad.mit.edu 37 1 150811981 150811981 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:150811981G>A ENST00000358595.5 - 6 622 c.422C>T c.(421-423)tCc>tTc p.S141F ARNT_ENST00000515192.1_Missense_Mutation_p.S132F|ARNT_ENST00000354396.2_Missense_Mutation_p.S141F|ARNT_ENST00000505755.1_Missense_Mutation_p.S126F NM_001197325.1|NM_001668.3|NM_178427.2 NP_001184254.1|NP_001659.1|NP_848514.1 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 141 Helix-loop-helix motif. positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1) 34 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) TCCCCGCAAGGACTTCATGTG 0.488000 T ETV6 AML 36 105 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5172982 5172982 + Silent SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:5172982G>T ENST00000380367.1 - 2 1035 c.618C>A c.(616-618)gcC>gcA p.A206A OR52A1_ENST00000328942.1_Silent_p.A206A Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 206 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTACAGTGAAGGCCACAAACA 0.423000 12 85 0.00185496 0.00189315 1 1 0 FBXL7 23194 broad.mit.edu 37 5 15936606 15936606 + Missense_Mutation SNP A A G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr5:15936606A>G ENST00000504595.1 + 4 1268 c.787A>G c.(787-789)Aaa>Gaa p.K263E FBXL7_ENST00000510662.1_Missense_Mutation_p.K216E|FBXL7_ENST00000329673.7_Missense_Mutation_p.K251E NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 263 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GGCCTCCATTAAACTGTCACC 0.577000 19 36 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 210970914 210970914 + Missense_Mutation SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:210970914G>T ENST00000367007.4 - 9 1939 c.1770C>A c.(1768-1770)agC>agA p.S590R KCNH1_ENST00000271751.4_Missense_Mutation_p.S617R NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 617 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CAAAGCAGAGGCTGTCAACGC 0.577000 11 55 1.58986e-06 1.67685e-06 1 1 0 PLEKHG6 55200 broad.mit.edu 37 12 6422938 6422938 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr12:6422938C>T ENST00000449001.2 + 2 680 c.186C>T c.(184-186)tcC>tcT p.S62S PLEKHG6_ENST00000011684.7_Silent_p.S94S|PLEKHG6_ENST00000396988.3_Silent_p.S94S|PLEKHG6_ENST00000536531.1_Silent_p.S94S NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 94 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 TGCTTCACTCCCCCAAACTCA 0.642000 4 25 0 0 1 0 0 SRPK2 6733 broad.mit.edu 37 7 104844169 104844169 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr7:104844169C>T ENST00000357311.3 - 2 273 c.102G>A c.(100-102)ccG>ccA p.P34P SRPK2_ENST00000393651.3_Silent_p.P45P|SRPK2_ENST00000489828.1_Silent_p.P34P NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 34 angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 GCAAAggtggcggtggtggtg 0.557000 11 6 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24509217 24509217 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:24509217G>A ENST00000355123.4 - 16 2170 c.1727C>T c.(1726-1728)tCa>tTa p.S576L ITSN2_ENST00000361999.3_Missense_Mutation_p.S576L|ITSN2_ENST00000406921.3_Missense_Mutation_p.S576L NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 576 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) ACTGACCCCTGAATCTGAAAA 0.338000 15 55 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140373325 140373325 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr7:140373325G>A ENST00000072869.4 + 1 373 c.195G>A c.(193-195)ctG>ctA p.L65L ADCK2_ENST00000476491.1_Silent_p.L65L NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 65 integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) CTGACGTTCTGAGTCGGCGAA 0.726000 5 13 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37331810 37331810 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr5:37331810C>T ENST00000231498.3 - 14 1809 c.1606G>A c.(1606-1608)Gaa>Aaa p.E536K NUP155_ENST00000513532.1_Missense_Mutation_p.E536K|NUP155_ENST00000381843.2_Missense_Mutation_p.E477K NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 536 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AAGAATCTTTCAATCTCTTCT 0.328000 23 61 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140907667 140907667 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr9:140907667C>T ENST00000371372.1 + 18 2392 c.2247C>T c.(2245-2247)gcC>gcT p.A749A CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371363.1_Silent_p.A749A|CACNA1B_ENST00000277551.2_Silent_p.A749A|CACNA1B_ENST00000371357.1_Silent_p.A750A|CACNA1B_ENST00000277550.3_Silent_p.A40A|CACNA1B_ENST00000371355.4_Silent_p.A750A NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 749 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CCATGTCTGCCGCGAACATCT 0.592000 11 17 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32634533 32634533 + Missense_Mutation SNP T T C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr9:32634533T>C ENST00000242310.4 - 1 1134 c.1045A>G c.(1045-1047)Aaa>Gaa p.K349E RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 349 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCTGTCACTTTATCTACATCT 0.507000 44 103 0 0 1 0 0 ATP1A1 476 broad.mit.edu 37 1 116932261 116932261 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:116932261G>C ENST00000537345.1 + 8 1318 c.955G>C c.(955-957)Gag>Cag p.E319Q ATP1A1_ENST00000369496.4_Missense_Mutation_p.E288Q|ATP1A1_ENST00000295598.5_Missense_Mutation_p.E319Q|ATP1A1_ENST00000491156.1_3'UTR NM_001160233.1 NP_001153705.1 P05023 AT1A1_HUMAN ATPase, Na+/K+ transporting, alpha 1 polypeptide 319 ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) CACCTGGCTTGAGGCTGTCAT 0.502000 25 32 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179448549 179448549 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:179448549C>G ENST00000589042.1 - 312 65584 c.65360G>C c.(65359-65361)aGt>aCt p.S21787T TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S12914T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S12847T|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S12722T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S20146T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S19219T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20146 Ig-like 114. 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) AATAATTTTACTGCCTCCATC 0.448000 6 12 0 0 1 0 0 CDC14B 8555 broad.mit.edu 37 9 99284821 99284821 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr9:99284821C>T ENST00000375241.1 - 12 1761 c.1310G>A c.(1309-1311)aGa>aAa p.R437K CDC14B_ENST00000375240.3_Missense_Mutation_p.R437K|CDC14B_ENST00000265659.2_Missense_Mutation_p.R437K|CDC14B_ENST00000481149.1_5'UTR|CDC14B_ENST00000375242.3_Missense_Mutation_p.R400K|CDC14B_ENST00000463569.1_Missense_Mutation_p.R437K|CDC14B_ENST00000375236.1_Missense_Mutation_p.R437K NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 437 activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) GGATTGTCTTCTGCTTTTCAA 0.418000 20 28 0 0 1 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725566 140725566 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr5:140725566G>A ENST00000253812.6 + 1 1966 c.1966G>A c.(1966-1968)Gcc>Acc p.A656T PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTCTCTCCGCCACTGTCAC 0.706000 46 44 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10436640 10436640 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:10436640G>C ENST00000245503.5 - 21 2787 c.2403C>G c.(2401-2403)ttC>ttG p.F801L RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.F801L NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 801 IQ. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTCTTGCCAAGAACCCTCTGC 0.458000 23 101 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27800791 27800791 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:27800791C>G ENST00000408964.2 + 1 1403 c.1352C>G c.(1351-1353)aCa>aGa p.T451R NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 451 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) ATGGGGCTAACAAAGTCAAAG 0.468000 23 35 0 0 1 0 0 PCDH12 51294 broad.mit.edu 37 5 141336216 141336216 + Missense_Mutation SNP T T C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr5:141336216T>C ENST00000231484.3 - 1 2411 c.1201A>G c.(1201-1203)Agg>Ggg p.R401G NM_016580.2 NP_057664.1 Q9NPG4 PCD12_HUMAN protocadherin 12 401 Cadherin 4. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTTTCAGCCTGAAGTGGCCC 0.488000 28 60 0 0 1 0 0 HLA-DMB 3109 broad.mit.edu 37 6 32906533 32906533 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:32906533G>A ENST00000416244.2 - 2 459 c.265C>T c.(265-267)Cgc>Tgc p.R89C HLA-DMB_ENST00000418107.2_Missense_Mutation_p.R89C|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.R121C P28068 DMB_HUMAN major histocompatibility complex, class II, DM beta 89 Beta-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 TTGCGCAAGCGCTGCATCAGG 0.552000 18 77 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159650940 159650940 + Missense_Mutation SNP T T C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:159650940T>C ENST00000297267.9 + 10 1474 c.1274T>C c.(1273-1275)cTg>cCg p.L425P FNDC1_ENST00000340366.6_Intron NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 425 Fibronectin type-III 4. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GTGGATGGTCTGCAGCCTGGG 0.507000 138 182 0 0 1 0 0 OR11H12 440153 broad.mit.edu 37 14 19377775 19377775 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr14:19377775C>T ENST00000550708.1 + 1 254 c.182C>T c.(181-183)gCt>gTt p.A61V NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 61 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGAGCCATTGCTTTTGTCCTG 0.428000 6 90 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77431673 77431673 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr9:77431673G>A ENST00000451710.3 - 11 1457 c.1220C>T c.(1219-1221)tCa>tTa p.S407L TRPM6_ENST00000360774.1_Missense_Mutation_p.S407L|TRPM6_ENST00000376872.3_Missense_Mutation_p.S407L|TRPM6_ENST00000449912.2_Missense_Mutation_p.S402L|TRPM6_ENST00000361255.3_Missense_Mutation_p.S402L|TRPM6_ENST00000376864.4_Missense_Mutation_p.S407L|TRPM6_ENST00000376871.3_Missense_Mutation_p.S407L Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 407 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CTCTGACGCTGATAAATTTGT 0.378000 21 64 0 0 1 0 0 TRMT12 55039 broad.mit.edu 37 8 125464390 125464390 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr8:125464390C>G ENST00000328599.3 + 1 1343 c.1222C>G c.(1222-1224)Cag>Gag p.Q408E TRMT12_ENST00000521443.1_Intron NM_017956.3 NP_060426.2 Q53H54 TYW2_HUMAN tRNA methyltransferase 12 homolog (S. cerevisiae) 408 tRNA processing methyltransferase activity breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CACTCTTCTTCAGCAGGTGCA 0.502000 31 22 0 0 1 0 0 CDC123 8872 broad.mit.edu 37 10 12252321 12252321 + Splice_Site SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr10:12252321G>A ENST00000281141.4 + 4 517 c.237G>A c.(235-237)acG>acA p.T79T CDC123_ENST00000378900.2_Splice_Site_p.T79T|CDC123_ENST00000455773.3_3'UTR NM_006023.2 NP_006014.2 O75794 CD123_HUMAN cell division cycle 123 79 cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle cytoplasm central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 CCACGCTTACGGTAAGAGCAC 0.433000 19 30 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113189946 113189946 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr9:113189946G>A ENST00000401783.2 - 36 6236 c.5900C>T c.(5899-5901)cCt>cTt p.P1967L SVEP1_ENST00000297826.5_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1944L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1967 Sushi 10. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TTTGATGGCAGGTGGTTCTCC 0.527000 OREG0019389 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 43 0 0 1 0 0 MAGEB18 286514 broad.mit.edu 37 X 26158093 26158093 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chrX:26158093C>T ENST00000325250.1 + 2 1178 c.991C>T c.(991-993)Cgt>Tgt p.R331C NM_173699.3 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 331 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 GGCAAATGCACGTTCCAGAAC 0.498000 7 4 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17108128 17108128 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:17108128G>A ENST00000443236.1 - 11 1060 c.1029C>T c.(1027-1029)ttC>ttT p.F343F CPAMD8_ENST00000388925.4_Silent_p.F296F NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 296 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CGCAGATGTCGAAGTCCCGGG 0.612000 3 4 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78553004 78553004 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr12:78553004G>A ENST00000397909.2 + 23 4980 c.4807G>A c.(4807-4809)Gaa>Aaa p.E1603K NAV3_ENST00000228327.6_Missense_Mutation_p.E1603K|NAV3_ENST00000536525.2_Missense_Mutation_p.E1603K|NAV3_ENST00000266692.7_Missense_Mutation_p.E1426K Q8IVL0 NAV3_HUMAN neuron navigator 3 1603 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.E1603K(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AGCAGCTTTTGAAAAGAGCTT 0.388000 HNSCC(70;0.22) 12 41 0 0 1 0 0 DNAJC22 79962 broad.mit.edu 37 12 49743194 49743194 + Missense_Mutation SNP T T A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr12:49743194T>A ENST00000549441.2 + 3 1743 c.539T>A c.(538-540)gTg>gAg p.V180E DNAJC22_ENST00000395069.3_Missense_Mutation_p.V180E Q8N4W6 DJC22_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 22 180 protein folding integral to membrane heat shock protein binding|unfolded protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1) 10 CCGCTCAGTGTGCGGCTCTAT 0.592000 26 56 0 0 1 0 0 POC5 134359 broad.mit.edu 37 5 74981251 74981251 + Silent SNP T T C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr5:74981251T>C ENST00000428202.2 - 10 1377 c.1188A>G c.(1186-1188)gaA>gaG p.E396E POC5_ENST00000510798.1_Silent_p.E279E|POC5_ENST00000380475.2_Silent_p.E279E|POC5_ENST00000446329.2_Silent_p.E371E|POC5_ENST00000514838.2_Silent_p.E368E NM_001099271.1 NP_001092741.1 Q8NA72 POC5_HUMAN POC5 centriolar protein 396 cell cycle centriole breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GAGCAGAATGTTCTTTTCCTT 0.463000 25 108 0 0 1 0 0 TMEM246 84302 broad.mit.edu 37 9 104238565 104238565 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr9:104238565C>T ENST00000374851.1 - 4 1957 c.810G>A c.(808-810)atG>atA p.M270I RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374848.3_Missense_Mutation_p.M270I|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.M270I Q9BRR3 CI125_HUMAN transmembrane protein 246 270 integral to membrane GCCCCAGCAACATGCCTACAC 0.532000 4 75 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131878850 131878850 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr7:131878850C>A ENST00000359827.3 - 14 3789 c.2827G>T c.(2827-2829)Gcc>Tcc p.A943S PLXNA4_ENST00000321063.4_Missense_Mutation_p.A943S Q9HCM2 PLXA4_HUMAN plexin A4 943 IPT/TIG 1. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GAGGACCGGGCCATGAATTCA 0.592000 15 48 1.5739e-10 1.76745e-10 1 1 0 PHF11 51131 broad.mit.edu 37 13 50087250 50087250 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr13:50087250G>C ENST00000357596.3 + 4 431 c.155G>C c.(154-156)aGa>aCa p.R52T PHF11_ENST00000488958.1_Missense_Mutation_p.R52T|PHF11_ENST00000378319.3_Missense_Mutation_p.R91T NM_001040444.1 NP_001035534.1 Q9UIL8 PHF11_HUMAN PHD finger protein 11 91 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding large_intestine(3)|lung(1) 4 Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.38e-09) AATCCTGATAGAAGTTTTGAT 0.363000 5 9 0 0 1 0 0 SEC22B 9554 broad.mit.edu 37 1 145112384 145112384 + RNA SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:145112384C>T ENST00000453618.1 + 0 685 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding TACTTTCATTCAGAAAACCAA 0.418000 6 70 0 0 1 0 0 GNB1L 54584 broad.mit.edu 37 22 19808202 19808202 + Missense_Mutation SNP C C T rs35357220 TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr22:19808202C>T ENST00000329517.6 - 4 409 c.173G>A c.(172-174)aGa>aAa p.R58K GNB1L_ENST00000405009.1_Missense_Mutation_p.R58K|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Missense_Mutation_p.R58K NM_053004.2 NP_443730.1 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 1-like 58 G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1) 12 Colorectal(54;0.0993) GGTAACCGCTCTCCGCGTCTG 0.647000 18 27 0 0 1 0 0 SPON2 10417 broad.mit.edu 37 4 1164298 1164298 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr4:1164298G>A ENST00000290902.5 - 5 1035 c.703C>T c.(703-705)Ccc>Tcc p.P235S SPON2_ENST00000431380.1_Missense_Mutation_p.P235S NM_012445.3 NP_036577 Q9BUD6 SPON2_HUMAN spondin 2, extracellular matrix protein 235 axon guidance|cell adhesion|innate immune response proteinaceous extracellular matrix metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(23;0.00805) UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19) CTGGCGATGGGAGGCAGGGCC 0.647000 10 53 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11288788 11288788 + Missense_Mutation SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:11288788G>T ENST00000361445.4 - 19 3043 c.2967C>A c.(2965-2967)ttC>ttA p.F989L NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 989 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 CCTGGGGCAGGAACTGCACAC 0.527000 14 24 9.05144e-12 1.02642e-11 1 1 0 NCAPD3 23310 broad.mit.edu 37 11 134048611 134048611 + Missense_Mutation SNP C C A rs142260444 TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:134048611C>A ENST00000534548.2 - 22 2764 c.2700G>T c.(2698-2700)gaG>gaT p.E900D NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 900 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) ACGCTGGGGCCTCACTGCTGC 0.507000 55 34 2.22609e-26 2.61848e-26 1 1 0 EIF4A2 1974 broad.mit.edu 37 3 186505012 186505012 + Missense_Mutation SNP A A G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr3:186505012A>G ENST00000323963.5 + 8 932 c.868A>G c.(868-870)Act>Gct p.T290A EIF4A2_ENST00000356531.5_Missense_Mutation_p.T195A|EIF4A2_ENST00000440191.2_Missense_Mutation_p.T291A Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 290 Helicase C-terminal. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1) 28 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) GGACTGGCTGACTGAGAAGAT 0.433000 T BCL6 NHL 90 70 0 0 1 0 0 HSPA12A 259217 broad.mit.edu 37 10 118434436 118434436 + Silent SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr10:118434436G>C ENST00000369209.3 - 12 1988 c.1884C>G c.(1882-1884)ctC>ctG p.L628L NM_025015.2 NP_079291.2 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 628 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) TGGTCCCTGTGAGATCCAGGC 0.572000 21 23 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577097 7577097 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:7577097C>G ENST00000420246.2 - 8 973 c.841G>C c.(841-843)Gac>Cac p.D281H TP53_ENST00000359597.4_Missense_Mutation_p.D281H|TP53_ENST00000269305.4_Missense_Mutation_p.D281H|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.D281H|TP53_ENST00000455263.2_Missense_Mutation_p.D281H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 281 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) GTGCGCCGGTCTCTCCCAGGA 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) 6 19 0 0 1 0 0 RNMTL1 55178 broad.mit.edu 37 17 685630 685630 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:685630G>A ENST00000304478.4 + 1 118 c.12G>A c.(10-12)ctG>ctA p.L4L NM_018146.2 NP_060616.1 Q9HC36 RMTL1_HUMAN RNA methyltransferase like 1 4 RNA processing protein binding|RNA binding|RNA methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 UCEC - Uterine corpus endometrioid carcinoma (25;0.0219) TGGCGGCGCTGGTGAGACCCG 0.711000 3 4 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118376908 118376908 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:118376908C>G ENST00000534358.1 + 27 10324 c.10301C>G c.(10300-10302)tCc>tGc p.S3434C KMT2A_ENST00000354520.4_Missense_Mutation_p.S3393C|KMT2A_ENST00000389506.5_Missense_Mutation_p.S3431C NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GTGCTCCCCTCCACTCAGACT 0.537000 55 36 0 0 1 0 0 CRTC1 23373 broad.mit.edu 37 19 18885765 18885765 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:18885765C>T ENST00000338797.6 + 13 1554 c.1529C>T c.(1528-1530)gCg>gTg p.A510V CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000594658.1_Missense_Mutation_p.A453V|CRTC1_ENST00000321949.8_Missense_Mutation_p.A494V NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 494 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 CAGCAGATGGCGGCCAGGCAG 0.672000 12 42 0 0 1 0 0 RALY 22913 broad.mit.edu 37 20 32664892 32664892 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr20:32664892C>T ENST00000375114.3 + 7 1247 c.669C>T c.(667-669)agC>agT p.S223S RALY_ENST00000246194.3_Silent_p.S239S NM_007367.3 NP_031393.2 Q9UKM9 RALY_HUMAN RALY heterogeneous nuclear ribonucleoprotein 239 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex nucleotide binding|RNA binding kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 gtggtggcagcggtggcggtg 0.682000 4 7 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7218076 7218076 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr10:7218076G>A ENST00000361972.4 - 17 1950 c.1860C>T c.(1858-1860)gaC>gaT p.D620D SFMBT2_ENST00000397167.1_Silent_p.D620D NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 620 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 TTGCGACTTGGTCAGATGTCC 0.463000 45 84 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73213434 73213434 + Silent SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr9:73213434G>T ENST00000377110.3 - 20 3156 c.2913C>A c.(2911-2913)gtC>gtA p.V971V TRPM3_ENST00000396285.1_Silent_p.V818V|TRPM3_ENST00000377106.1_Silent_p.V843V|TRPM3_ENST00000423814.3_Silent_p.V998V|TRPM3_ENST00000360823.2_Silent_p.V833V|TRPM3_ENST00000396292.4_Silent_p.V843V|TRPM3_ENST00000377105.1_Silent_p.V830V|TRPM3_ENST00000396280.5_Silent_p.V820V|TRPM3_ENST00000377111.2_Silent_p.V971V|TRPM3_ENST00000358082.3_Silent_p.V833V|TRPM3_ENST00000408909.2_Silent_p.V830V|TRPM3_ENST00000357533.2_Silent_p.V975V Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CGCAGTAGATGACCCTCCCGT 0.483000 28 104 7.41945e-09 8.12161e-09 1 1 0 NARG2 79664 broad.mit.edu 37 15 60760412 60760412 + Missense_Mutation SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr15:60760412G>T ENST00000261520.4 - 4 490 c.256C>A c.(256-258)Ctt>Att p.L86I NARG2_ENST00000561114.1_Missense_Mutation_p.L86I|NARG2_ENST00000439632.1_Intron|NARG2_ENST00000558654.1_Intron NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 86 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 TTTGGAAGAAGAACCATTCCA 0.403000 14 60 0.000151284 0.000157173 1 1 0 UNC13D 201294 broad.mit.edu 37 17 73836641 73836641 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:73836641G>A ENST00000207549.4 - 9 1079 c.700C>T c.(700-702)Cgg>Tgg p.R234W UNC13D_ENST00000412096.2_Missense_Mutation_p.R234W|UNC13D_ENST00000587504.1_5'UTR NM_199242.2 NP_954712.1 Q70J99 UN13D_HUMAN unc-13 homolog D (C. elegans) 234 positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) TTGTCCTTCCGGGCCTCTTTA 0.632000 Familial Hemophagocytic Lymphohistiocytosis 13 44 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153133364 153133364 + Splice_Site SNP C C T rs145241190 TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chrX:153133364C>T ENST00000370060.1 - 16 2019 c.1830G>A c.(1828-1830)ggG>ggA p.G610G L1CAM_ENST00000370055.1_Splice_Site_p.G605G|L1CAM_ENST00000361981.3_Splice_Site_p.G605G|L1CAM_ENST00000361699.4_Splice_Site_p.G610G|L1CAM_ENST00000370057.3_Splice_Site_p.G610G|L1CAM_ENST00000538883.1_Splice_Site_p.G612G|L1CAM_ENST00000543994.1_Splice_Site_p.G612G NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 610 axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCCAGGGCTCCCTGAGGGTG 0.662000 24 19 0 0 1 0 0 C9orf139 401563 broad.mit.edu 37 9 139929186 139929186 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr9:139929186C>T ENST00000314330.2 + 3 1767 c.253C>T c.(253-255)Ctt>Ttt p.L85F NM_207511.1 NP_997394.1 Q6ZV77 CI139_HUMAN chromosome 9 open reading frame 139 85 cervix(1)|lung(2) 3 all_cancers(76;0.0893) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493) GCCTGCCATCCTTCCTGTTTG 0.662000 18 35 0 0 1 0 0 LIN54 132660 broad.mit.edu 37 4 83891582 83891582 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr4:83891582C>G ENST00000340417.3 - 4 1226 c.849G>C c.(847-849)aaG>aaC p.K283N LIN54_ENST00000442461.2_Missense_Mutation_p.K62N|LIN54_ENST00000510557.1_Missense_Mutation_p.K62N|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000395283.2_Intron|LIN54_ENST00000446851.2_Missense_Mutation_p.K62N|LIN54_ENST00000505397.1_Missense_Mutation_p.K283N|LIN54_ENST00000395282.2_Missense_Mutation_p.R242T NM_194282.2 NP_919258.2 Q6MZP7 LIN54_HUMAN lin-54 homolog (C. elegans) 283 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5) 14 Hepatocellular(203;0.114) TTGTTATGGTCTTTGATGGAG 0.353000 35 52 0 0 1 0 0 ACAA1 30 broad.mit.edu 37 3 38167058 38167058 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr3:38167058C>G ENST00000333167.8 - 11 1369 c.1197G>C c.(1195-1197)aaG>aaC p.K399N ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000450296.1_Missense_Mutation_p.K358N|ACAA1_ENST00000301810.7_Missense_Mutation_p.K306N NM_001607.3 NP_001598.1 P09110 THIK_HUMAN acetyl-CoA acyltransferase 1 399 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) AGCCTTACCTCTTCCCACGGC 0.602000 10 59 0 0 1 0 0 ADA 100 broad.mit.edu 37 20 43251677 43251677 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr20:43251677C>T ENST00000372874.4 - 7 783 c.649G>A c.(649-651)Gag>Aag p.E217K PKIG_ENST00000372887.1_Intron|ADA_ENST00000537820.1_Intron|PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR NM_000022.2 NP_000013.2 P00813 ADA_HUMAN adenosine deaminase 217 adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1) 18 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) GAGCCCACCTCCCCGGCGTGG 0.652000 Adenosine Deaminase Deficiency 10 63 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179582046 179582046 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:179582046C>A ENST00000589042.1 - 88 25639 c.25415G>T c.(25414-25416)aGt>aTt p.S8472I TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S8155I|TTN_ENST00000342992.6_Missense_Mutation_p.S7228I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8155 Ig-like 67. 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) AAAAGTACCACTTTCTCCAAG 0.408000 8 25 1.76689e-08 1.92198e-08 1 1 0 ARFGEF2 10564 broad.mit.edu 37 20 47591343 47591343 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr20:47591343C>G ENST00000371917.4 + 13 1706 c.1706C>G c.(1705-1707)tCc>tGc p.S569C NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 569 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TGCCTCGTGTCCATTCTCAAG 0.517000 5 23 0 0 1 0 0 DDX27 55661 broad.mit.edu 37 20 47859158 47859158 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr20:47859158C>T ENST00000371764.4 + 19 2246 c.2237C>T c.(2236-2238)tCt>tTt p.S746F DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000469991.1_Intron NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 746 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAAGAAATCTGTATTTGAT 0.438000 48 62 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56203494 56203494 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr18:56203494C>T ENST00000361673.3 - 5 4138 c.3925G>A c.(3925-3927)Gat>Aat p.D1309N RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 1309 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TCTCTGCTATCAGCAAGGGCT 0.517000 35 61 0 0 1 0 0 SMCR8 140775 broad.mit.edu 37 17 18219783 18219783 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:18219783C>G ENST00000406438.3 + 1 1160 c.680C>G c.(679-681)tCt>tGt p.S227C NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 227 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 TTTTACTCATCTCAGGCAATT 0.458000 13 31 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088469 86088469 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr14:86088469C>A ENST00000330753.4 + 2 1378 c.611C>A c.(610-612)aCg>aAg p.T204K FLRT2_ENST00000554746.1_Missense_Mutation_p.T204K NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 204 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CAGAATCTCACGAGCTTGGAG 0.512000 10 58 4.68919e-08 5.069e-08 1 1 0 TENM3 55714 broad.mit.edu 37 4 183245371 183245371 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr4:183245371G>A ENST00000511685.1 + 2 321 c.198G>A c.(196-198)ttG>ttA p.L66L TENM3_ENST00000406950.2_Silent_p.L66L teneurin transmembrane protein 3 TGAAGGATTTGGTTCACAGAG 0.468000 22 40 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117710844 117710844 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:117710844G>A ENST00000368508.3 - 12 1626 c.1428C>T c.(1426-1428)gtC>gtT p.V476V ROS1_ENST00000368507.3_Silent_p.V485V|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 476 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TTGACATGAAGACTTGGGCAG 0.448000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 30 31 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5969067 5969067 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:5969067C>G ENST00000329564.6 + 1 498 c.491C>G c.(490-492)cCc>cGc p.P164R NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGCCCATCCCCATCCTTTCA 0.448000 4 101 0 0 1 0 0 STAC 6769 broad.mit.edu 37 3 36587764 36587764 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr3:36587764G>A ENST00000273183.3 + 11 1492 c.1192G>A c.(1192-1194)Gta>Ata p.V398I STAC_ENST00000457375.2_Missense_Mutation_p.V337I NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 398 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 CCCCCTTGATGTACTAGAAAA 0.483000 16 98 0 0 1 0 0 MYO6 4646 broad.mit.edu 37 6 76564872 76564872 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:76564872G>C ENST00000369981.3 + 12 1374 c.1095G>C c.(1093-1095)aaG>aaC p.K365N MYO6_ENST00000369977.3_Missense_Mutation_p.K365N|MYO6_ENST00000369975.1_Missense_Mutation_p.K365N|MYO6_ENST00000369985.4_Missense_Mutation_p.K365N Q9UM54 MYO6_HUMAN myosin VI 365 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GTAATCTGAAGAATAAATCTG 0.318000 12 38 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48055291 48055291 + Missense_Mutation SNP A A G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr15:48055291A>G ENST00000316364.5 + 9 1176 c.737A>G c.(736-738)aAt>aGt p.N246S SEMA6D_ENST00000536845.2_Missense_Mutation_p.N246S|SEMA6D_ENST00000558816.1_Missense_Mutation_p.N246S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.N246S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.N246S|SEMA6D_ENST00000355997.3_Missense_Mutation_p.N246S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.N246S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.N246S|SEMA6D_ENST00000389425.3_Missense_Mutation_p.N246S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.N246S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.N246S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.N246S NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 246 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity p.N246I(2) biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GAACATAATAATTTAGGCAAG 0.363000 5 14 0 0 1 0 0 LAP3 51056 broad.mit.edu 37 4 17609135 17609135 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr4:17609135C>G ENST00000226299.4 + 13 1757 c.1483C>G c.(1483-1485)Cta>Gta p.L495V LAP3_ENST00000503467.1_3'UTR|LAP3_ENST00000606142.1_Missense_Mutation_p.L464V|AC006160.5_ENST00000511010.1_RNA NM_015907.2 NP_056991.2 P28838 AMPL_HUMAN leucine aminopeptidase 3 495 proteolysis nucleus aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1) 20 AGTTCCCTATCTACGGAAAGG 0.433000 27 50 0 0 1 0 0 DHRS1 115817 broad.mit.edu 37 14 24766076 24766076 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr14:24766076G>A ENST00000288111.7 - 3 438 c.162C>T c.(160-162)ctC>ctT p.L54L DHRS1_ENST00000396813.1_Silent_p.L54L NM_001136050.2 NP_001129522.1 Q96LJ7 DHRS1_HUMAN dehydrogenase/reductase (SDR family) member 1 54 endoplasmic reticulum binding|oxidoreductase activity cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442) ATTGGCCCCCGAGGGATTGTG 0.537000 OREG0022622 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 36 0 0 1 0 0 AADAT 51166 broad.mit.edu 37 4 171009587 171009587 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr4:171009587C>G ENST00000337664.4 - 2 472 c.196G>C c.(196-198)Gag>Cag p.E66Q AADAT_ENST00000515480.1_Missense_Mutation_p.E66Q|AADAT_ENST00000509167.1_Missense_Mutation_p.E70Q|AADAT_ENST00000353187.2_Missense_Mutation_p.E66Q NM_016228.3 NP_057312.1 Q8N5Z0 AADAT_HUMAN aminoadipate aminotransferase 66 2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process mitochondrial matrix 2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1) 11 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TTCATCATCTCTTCTCCAAAT 0.373000 27 59 0 0 1 0 0 TMEM140 55281 broad.mit.edu 37 7 134849212 134849212 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr7:134849212C>T ENST00000275767.3 + 2 242 c.19C>T c.(19-21)Cgg>Tgg p.R7W C7orf49_ENST00000459937.1_Intron NM_018295.3 NP_060765.4 Q9NV12 TM140_HUMAN transmembrane protein 140 R -> Q (in dbSNP:rs3800592). integral to membrane kidney(1)|large_intestine(2)|lung(2) 5 CCCAAGGCCTCGGTGGCGCGA 0.592000 30 14 0 0 1 0 0 CEP19 84984 broad.mit.edu 37 3 196434703 196434703 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr3:196434703C>G ENST00000409690.3 - 3 645 c.223G>C c.(223-225)Gag>Cag p.E75Q CEP19_ENST00000399942.4_Missense_Mutation_p.E36Q NM_032898.3 NP_116287.2 Q96LK0 CEP19_HUMAN centrosomal protein 19kDa 71 centriole|spindle pole p.E71Q(1) NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 10 AATAGCTTCTCTAGCTGCCTC 0.438000 69 45 0 0 1 0 0 HSD17B6 8630 broad.mit.edu 37 12 57175797 57175797 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr12:57175797C>T ENST00000554643.1 + 4 702 c.353C>T c.(352-354)cCa>cTa p.P118L HSD17B6_ENST00000555159.1_Missense_Mutation_p.P118L|HSD17B6_ENST00000554150.1_Missense_Mutation_p.P118L|HSD17B6_ENST00000322165.1_Missense_Mutation_p.P118L|HSD17B6_ENST00000555805.1_Missense_Mutation_p.P118L O14756 H17B6_HUMAN hydroxysteroid (17-beta) dehydrogenase 6 118 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Succinic acid(DB00139) ATTCTTACACCAATTACCTTA 0.413000 18 69 0 0 1 0 0 ZSWIM1 90204 broad.mit.edu 37 20 44511689 44511689 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr20:44511689C>T ENST00000372523.1 + 2 553 c.458C>T c.(457-459)cCa>cTa p.P153L ZSWIM1_ENST00000372520.1_Missense_Mutation_p.P153L NM_080603.4 NP_542170.3 Q9BR11 ZSWM1_HUMAN zinc finger, SWIM-type containing 1 153 zinc ion binding breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 Myeloproliferative disorder(115;0.028) CATTTCCTTCCACTGCCTATC 0.502000 27 29 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86088480 86088480 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr14:86088480C>A ENST00000330753.4 + 2 1389 c.622C>A c.(622-624)Cgt>Agt p.R208S FLRT2_ENST00000554746.1_Missense_Mutation_p.R208S NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 208 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) GAGCTTGGAGCGTCTTATTGT 0.502000 12 60 9.05144e-12 1.02642e-11 1 1 0 RCSD1 92241 broad.mit.edu 37 1 167666545 167666545 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:167666545G>A ENST00000367854.3 + 6 1015 c.684G>A c.(682-684)gtG>gtA p.V228V RCSD1_ENST00000537350.1_Silent_p.V198V NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 228 RCSD. NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) GAGAGGGAGTGAGAACCCTGG 0.592000 7 50 0 0 1 0 0 NMI 9111 broad.mit.edu 37 2 152132274 152132274 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:152132274G>A ENST00000243346.5 - 5 915 c.445C>T c.(445-447)Cag>Tag p.Q149* NM_004688.2 NP_004679.2 Q13287 NMI_HUMAN N-myc (and STAT) interactor 149 inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter cytoplasm|nucleus nucleotide binding|protein binding|transcription cofactor activity p.Q149*(1) endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 BRCA - Breast invasive adenocarcinoma(221;0.0571) CCTGTTACCTGGAATCTGACT 0.353000 11 25 0 0 1 0 0 OR52I1 390037 broad.mit.edu 37 11 4615679 4615679 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:4615679G>C ENST00000450052.2 + 2 483 c.483G>C c.(481-483)aaG>aaC p.K161N OR52I1_ENST00000530443.2_Missense_Mutation_p.K137N Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 137 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TACACTACAAGAGAATTCTCA 0.493000 7 42 0 0 1 0 0 AGGF1 55109 broad.mit.edu 37 5 76355520 76355520 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr5:76355520G>A ENST00000312916.7 + 12 2178 c.1796G>A c.(1795-1797)gGa>gAa p.G599E NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 599 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) GAGCAGGTTGGAAGTGAAGGA 0.348000 13 43 0 0 1 0 0 SLC2A4 6517 broad.mit.edu 37 17 7189033 7189033 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:7189033C>T ENST00000317370.8 + 10 1400 c.1132C>T c.(1132-1134)Cca>Tca p.P378S SLC2A4_ENST00000571308.1_Missense_Mutation_p.P378S|SLC2A4_ENST00000424875.2_Missense_Mutation_p.P368S NM_001042.2 NP_001033.1 P14672 GTR4_HUMAN solute carrier family 2 (facilitated glucose transporter), member 4 378 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 GGAGCGAGTTCCAGCCATGAG 0.547000 31 37 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118375563 118375563 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:118375563C>T ENST00000534358.1 + 27 8979 c.8956C>T c.(8956-8958)Cca>Tca p.P2986S KMT2A_ENST00000354520.4_Missense_Mutation_p.P2945S|KMT2A_ENST00000389506.5_Missense_Mutation_p.P2983S NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A AGGAGTAGATCCAACTCCTGA 0.493000 29 26 0 0 1 0 0 PLCG2 5336 broad.mit.edu 37 16 81944312 81944312 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr16:81944312C>G ENST00000359376.3 + 18 2135 c.1921C>G c.(1921-1923)Cac>Gac p.H641D NM_002661.3 NP_002652.2 P16885 PLCG2_HUMAN phospholipase C, gamma 2 (phosphatidylinositol-specific) 641 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 58 CCCCAACCCCCACGAGTCCAA 0.667000 19 75 0 0 1 0 0 MSH2 4436 broad.mit.edu 37 2 47672783 47672783 + Missense_Mutation SNP T T C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:47672783T>C ENST00000406134.1 + 8 1435 c.1373T>C c.(1372-1374)tTa>tCa p.L458S MSH2_ENST00000233146.2_Missense_Mutation_p.L458S|MSH2_ENST00000543555.1_Missense_Mutation_p.L392S P43246 MSH2_HUMAN mutS homolog 2 458 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GAAACAACTTTAGATATGGAT 0.308000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 20 28 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8633388 8633388 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr9:8633388G>A ENST00000381196.4 - 11 824 c.281C>T c.(280-282)gCc>gTc p.A94V PTPRD_ENST00000537002.1_Missense_Mutation_p.A94V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A94V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A94V|PTPRD_ENST00000355233.5_Missense_Mutation_p.A94V|PTPRD_ENST00000397617.3_Missense_Mutation_p.A94V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A94V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A94V|PTPRD_ENST00000463477.1_Missense_Mutation_p.A94V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A94V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A94V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A94V NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 94 Ig-like C2-type 1. 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) TTCATAAATGGCCTCATCCCT 0.448000 TSP Lung(15;0.13) 39 110 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644386 53644386 + Silent SNP T T A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:53644386T>A ENST00000452676.2 - 5 2124 c.1698A>T c.(1696-1698)ggA>ggT p.G566G ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCAGTATGGA 0.408000 5 165 0 0 1 0 0 MAP3K14 9020 broad.mit.edu 37 17 43364359 43364359 + RNA SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:43364359G>T ENST00000344686.2 - 0 698 Q99558 M3K14_HUMAN mitogen-activated protein kinase kinase kinase 14 cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation cytosol ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 CAGAGGCTTGGTGAACTGCGG 0.587000 14 17 6.72482e-11 7.57634e-11 1 1 0 SLC6A11 6538 broad.mit.edu 37 3 10980081 10980081 + Missense_Mutation SNP A A G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr3:10980081A>G ENST00000254488.2 + 14 1958 c.1892A>G c.(1891-1893)cAc>cGc p.H631R NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 631 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) AAGGAGACGCACTTCTGAGCG 0.542000 26 39 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50114444 50114444 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr3:50114444G>A ENST00000443081.1 + 21 3773 c.2854G>A c.(2854-2856)Gaa>Aaa p.E952K RBM6_ENST00000266022.4_Missense_Mutation_p.E1084K|RBM6_ENST00000442092.1_Missense_Mutation_p.E562K|RBM6_ENST00000539992.1_Missense_Mutation_p.E426K|RBM6_ENST00000422955.1_Missense_Mutation_p.E562K|RBM6_ENST00000421682.1_Missense_Mutation_p.E80K P78332 RBM6_HUMAN RNA binding motif protein 6 1084 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) TTTACAGGCTGAAGGCCGGAT 0.493000 8 21 0 0 1 0 0 SNORD113-2 767562 broad.mit.edu 37 14 101393713 101393713 + RNA SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr14:101393713C>G ENST00000391082.1 + 0 35 NR_003230.1 CTGTAGGAATCAAAGATTTTG 0.294000 17 52 0 0 1 0 0 ZNF648 127665 broad.mit.edu 37 1 182026765 182026765 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:182026765G>A ENST00000339948.3 - 2 588 c.381C>T c.(379-381)ccC>ccT p.P127P NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 CGAGACCACTGGGAAGGGAAC 0.557000 10 65 0 0 1 0 0 ZNF492 57615 broad.mit.edu 37 19 22836730 22836730 + Missense_Mutation SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:22836730G>T ENST00000456783.2 + 3 287 c.43G>T c.(43-45)Gcc>Tcc p.A15S NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 15 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) AGGTATTGCTGCCTCTAAGCC 0.398000 5 127 1.23904e-05 1.29502e-05 1 1 0 NELL2 4753 broad.mit.edu 37 12 45173474 45173474 + Missense_Mutation SNP T T C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr12:45173474T>C ENST00000429094.2 - 5 1082 c.578A>G c.(577-579)cAg>cGg p.Q193R NELL2_ENST00000551601.1_Missense_Mutation_p.Q192R|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000437801.2_Missense_Mutation_p.Q243R|NELL2_ENST00000549027.1_Missense_Mutation_p.Q192R|NELL2_ENST00000452445.2_Missense_Mutation_p.Q193R|NELL2_ENST00000395487.2_Missense_Mutation_p.Q192R|NELL2_ENST00000333837.4_Missense_Mutation_p.Q216R NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 193 TSP N-terminal. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) ATTATTTCTCTGTCCTAGCCA 0.353000 23 34 0 0 1 0 0 PI4KB 5298 broad.mit.edu 37 1 151288430 151288430 + Silent SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:151288430C>A ENST00000368875.2 - 3 1144 c.564G>T c.(562-564)ctG>ctT p.L188L PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368873.1_Silent_p.L176L|PI4KB_ENST00000368872.1_Silent_p.L176L|PI4KB_ENST00000368874.4_Silent_p.L176L|PI4KB_ENST00000271657.5_Silent_p.L188L NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 176 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GCAACTGGGGCAGATAGAAGT 0.502000 69 85 3.89499e-28 4.61283e-28 1 1 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5653496 5653496 + Missense_Mutation SNP T T C rs142777756 TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:5653496T>C ENST00000354852.5 + 8 1170 c.997T>C c.(997-999)Tct>Cct p.S333P HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000514226.1_5'UTR|TRIM34_ENST00000429814.2_5'UTR NM_001003819.3 NP_001003819.1 B2RNG4 B2RNG4_HUMAN 333 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) CATCCAGGGGTCTTTAACCAG 0.443000 OREG0003725 type=REGULATORY REGION|Gene=TRIM34|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 44 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63057640 63057640 + Translation_Start_Site SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:63057640G>A ENST00000332793.6 + 1 5 c.3G>A c.(1-3)atG>atA p.M1I SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_Intron|SLC22A10_ENST00000535888.1_Intron NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 1 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CACAATCAATGGCCTTTGAGG 0.403000 18 23 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113351678 113351678 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr4:113351678G>A ENST00000458497.1 + 11 1254 c.975G>A c.(973-975)ctG>ctA p.L325L ALPK1_ENST00000177648.9_Silent_p.L325L|ALPK1_ENST00000504176.2_Silent_p.L247L NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 325 ATP binding|protein serine/threonine kinase activity p.L325L(1) NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) ACTTACATCTGTGTGAAGCCA 0.428000 96 23 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21350369 21350369 + Nonsense_Mutation SNP C C A rs117346988 byFrequency TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr22:21350369C>A ENST00000215739.8 + 18 2546 c.2187C>A c.(2185-2187)taC>taA p.Y729* LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Nonsense_Mutation_p.Y710* NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 729 BTB 2. anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) ACATCTACTACGGCGAGGTCA 0.627000 18 47 1.33834e-09 1.48847e-09 1 1 0 NF1 4763 broad.mit.edu 37 17 29576048 29576048 + Nonsense_Mutation SNP C C T rs137854559 TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:29576048C>T ENST00000358273.4 + 30 4404 c.4021C>T c.(4021-4023)Cag>Tag p.Q1341* NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1341* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1341 Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4)|p.Q1341*(1) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GAACCTCCTTCAGATGACTGA 0.388000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 36 116 0 0 1 0 0 BTD 686 broad.mit.edu 37 3 15683562 15683562 + Nonsense_Mutation SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr3:15683562G>T ENST00000383778.4 + 3 755 c.397G>T c.(397-399)Gag>Tag p.E133* BTD_ENST00000482824.1_3'UTR|BTD_ENST00000303498.5_Nonsense_Mutation_p.E153*|BTD_ENST00000437172.1_Nonsense_Mutation_p.E155*|BTD_ENST00000449107.1_Nonsense_Mutation_p.E155* NM_001281725.1 NP_001268654.1 P43251 BTD_HUMAN biotinidase 153 CN hydrolase. central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 18 CAATGACACAGAGGTGATTCC 0.483000 17 18 1.02788e-11 1.16181e-11 1 1 0 GPATCH2 55105 broad.mit.edu 37 1 217622605 217622605 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:217622605C>G ENST00000366935.3 - 9 1462 c.1352G>C c.(1351-1353)gGa>gCa p.G451A NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 451 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) AGTAGTAGGTCCAGGCAAAGG 0.373000 17 48 0 0 1 0 0 IPO5 3843 broad.mit.edu 37 13 98642391 98642391 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr13:98642391G>C ENST00000261574.5 + 8 713 c.533G>C c.(532-534)gGa>gCa p.G178A IPO5_ENST00000539640.1_Intron|IPO5_ENST00000490680.1_Missense_Mutation_p.G160A NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 160 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 AACTTTCCTGGAATTTTTGGG 0.318000 9 33 0 0 1 0 0 NFIC 4782 broad.mit.edu 37 19 3382241 3382241 + Splice_Site SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:3382241G>A ENST00000589123.1 + 2 655 c.535G>A c.(535-537)Gat>Aat p.D179N NFIC_ENST00000346156.5_Splice_Site_p.D179N|NFIC_ENST00000395111.3_Splice_Site_p.D179N|NFIC_ENST00000590282.1_Splice_Site_p.D188N|NFIC_ENST00000443272.2_Splice_Site_p.D188N|NFIC_ENST00000341919.3_Splice_Site_p.D188N|NFIC_ENST00000586919.1_Splice_Site_p.D179N NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 188 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) GCGTGAGCGAGGTGAGGTGTG 0.687000 9 27 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196876134 196876134 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:196876134G>A ENST00000367416.2 + 4 717 c.580G>A c.(580-582)Gaa>Aaa p.E194K CFHR4_ENST00000251424.4_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367418.2_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 AGTGTGTGGTGAAGATGGCTG 0.343000 10 19 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 74019729 74019729 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr4:74019729G>A ENST00000358602.4 - 6 1218 c.1102C>T c.(1102-1104)Cat>Tat p.H368Y ANKRD17_ENST00000330838.6_Missense_Mutation_p.H368Y|ANKRD17_ENST00000509867.2_Missense_Mutation_p.H255Y NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 368 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGAGGGGTATGACCATTTTCA 0.428000 49 94 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11144518 11144518 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:11144518G>A ENST00000358026.2 + 27 4134 c.3850G>A c.(3850-3852)Gac>Aac p.D1284N SMARCA4_ENST00000541122.2_Intron|SMARCA4_ENST00000429416.3_Missense_Mutation_p.D1284N|SMARCA4_ENST00000538456.3_Intron|SMARCA4_ENST00000590574.1_Intron|SMARCA4_ENST00000444061.3_Intron|SMARCA4_ENST00000413806.3_Intron|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1284N|SMARCA4_ENST00000589677.1_Intron|SMARCA4_ENST00000450717.3_Intron NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1284 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.D1284N(1)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) cgtcaaccccgacttggagga 0.617000 """F, N, Mis""" NSCLC 5 22 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86087861 86087861 + Translation_Start_Site SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr14:86087861G>A ENST00000330753.4 + 2 770 c.3G>A c.(1-3)atG>atA p.M1I FLRT2_ENST00000554746.1_Start_Codon_SNP_p.M1I NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 1 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CTTCAGAAATGGGCCTACAGA 0.423000 22 48 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37866671 37866671 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:37866671G>C ENST00000406381.2 + 9 1258 c.748G>C c.(748-750)Gag>Cag p.E250Q ERBB2_ENST00000540042.1_Missense_Mutation_p.E250Q|ERBB2_ENST00000578199.1_Missense_Mutation_p.E250Q|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540147.1_Missense_Mutation_p.E250Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.E280Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.E250Q|ERBB2_ENST00000584450.1_Missense_Mutation_p.E280Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.E265Q NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 280 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) AGACACGTTTGAGTCCATGCC 0.587000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 16 22 0 0 1 0 0 CHN2 1124 broad.mit.edu 37 7 29535631 29535631 + Missense_Mutation SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr7:29535631G>T ENST00000222792.6 + 8 1248 c.718G>T c.(718-720)Gcc>Tcc p.A240S CHN2_ENST00000539406.1_Missense_Mutation_p.A315S|CHN2_ENST00000421775.2_Missense_Mutation_p.A104S|CHN2_ENST00000409041.4_Missense_Mutation_p.A104S|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000495789.2_Missense_Mutation_p.A253S|CHN2_ENST00000539389.1_Missense_Mutation_p.A96S|CHN2_ENST00000546235.1_Missense_Mutation_p.A225S|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000439711.2_Missense_Mutation_p.A104S|CHN2_ENST00000424025.2_Missense_Mutation_p.A59S NM_004067.2 NP_004058.1 P52757 CHIO_HUMAN chimerin 2 240 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2) 23 GGGGCTCATCGCCCAAGGGGT 0.493000 12 43 6.31663e-08 6.80705e-08 1 1 0 SLC4A3 6508 broad.mit.edu 37 2 220493975 220493975 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:220493975G>C ENST00000358055.3 + 4 839 c.327G>C c.(325-327)aaG>aaC p.K109N SLC4A3_ENST00000317151.3_Missense_Mutation_p.K109N|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Missense_Mutation_p.K109N|SLC4A3_ENST00000273063.6_Missense_Mutation_p.K109N|SLC4A3_ENST00000373762.3_Missense_Mutation_p.K109N P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 109 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) CCAGGAGAAAGAGGAAGAAGG 0.662000 10 9 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137735648 137735648 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr5:137735648G>A ENST00000314358.5 + 11 3346 c.3146G>A c.(3145-3147)gGa>gAa p.G1049E KDM3B_ENST00000394866.1_Missense_Mutation_p.G705E|KDM3B_ENST00000542866.1_Missense_Mutation_p.G81E NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1049 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 CGCAAATGTGGATTTGGGGTC 0.507000 14 62 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C T rs121912660 TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:7577099C>T ENST00000420246.2 - 8 971 c.839G>A c.(838-840)aGa>aAa p.R280K TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000269305.4_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000455263.2_Missense_Mutation_p.R280K NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 280 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) GCGCCGGTCTCTCCCAGGACA 0.542000 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) 6 18 0 0 1 0 0 MYSM1 114803 broad.mit.edu 37 1 59147751 59147751 + Missense_Mutation SNP T T A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:59147751T>A ENST00000472487.1 - 8 1004 c.965A>T c.(964-966)aAc>aTc p.N322I MYSM1_ENST00000493821.1_5'UTR NM_001085487.2 NP_001078956.1 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 322 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) CTTGTTGCAGTTTTTAATCAA 0.348000 4 117 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74010548 74010548 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:74010548C>A ENST00000301607.3 - 18 2585 c.2332G>T c.(2332-2334)Gac>Tac p.D778Y EVPL_ENST00000586740.1_Missense_Mutation_p.D800Y NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 778 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CTGGGGCCGTCGCTGGGCCGC 0.662000 15 29 1.3612e-06 1.44005e-06 1 1 0 ZNF98 148198 broad.mit.edu 37 19 22585678 22585678 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:22585678C>A ENST00000357774.5 - 3 287 c.166G>T c.(166-168)Gcc>Tcc p.A56S ZNF98_ENST00000601553.1_Missense_Mutation_p.A56S NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 56 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) GGCTTAGAGGCAGCAATACCT 0.393000 18 77 9.16793e-09 1.0004e-08 1 1 0 SLC6A11 6538 broad.mit.edu 37 3 10979948 10979948 + Missense_Mutation SNP T T A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr3:10979948T>A ENST00000254488.2 + 14 1825 c.1759T>A c.(1759-1761)Ttg>Atg p.L587M NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 587 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) ACTCCAGAAGTTGACGACCCC 0.572000 9 59 0 0 1 0 0 DDHD1 80821 broad.mit.edu 37 14 53619666 53619666 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr14:53619666C>T ENST00000357758.3 - 1 334 c.151G>A c.(151-153)Gac>Aac p.D51N DDHD1_ENST00000323669.5_Missense_Mutation_p.D51N|DDHD1_ENST00000395606.1_Missense_Mutation_p.D51N NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 51 lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) ACGTCGCCGTCGTCCGGGTCC 0.766000 3 5 0 0 1 0 0 FBXL16 146330 broad.mit.edu 37 16 746932 746932 + Silent SNP C C T rs150039881 TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr16:746932C>T ENST00000397621.1 - 2 805 c.474G>A c.(472-474)gtG>gtA p.V158V FBXL16_ENST00000324361.5_Silent_p.V158V NM_153350.3 NP_699181.2 Q8N461 FXL16_HUMAN F-box and leucine-rich repeat protein 16 158 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1) 10 Hepatocellular(780;0.0218) CCTGCAGGTTCACGAACTCCT 0.607000 16 16 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23906504 23906504 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr13:23906504C>T ENST00000382298.3 - 10 12099 c.11511G>A c.(11509-11511)caG>caA p.Q3837Q SACS_ENST00000382292.3_Silent_p.Q3837Q|SACS_ENST00000402364.1_Silent_p.Q3087Q NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 3837 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GTTTGAACAACTGGTGAAATG 0.343000 10 53 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20790054 20790054 + Silent SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr12:20790054C>A ENST00000359062.3 + 9 2062 c.2022C>A c.(2020-2022)ccC>ccA p.P674P PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 674 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TTCTTGCTCCCGAACCTCTTG 0.338000 18 40 1.2644e-06 1.34174e-06 1 1 0 PSG4 5672 broad.mit.edu 37 19 43708147 43708147 + Silent SNP C C A rs150830749 byFrequency TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:43708147C>A ENST00000405312.3 - 2 558 c.321G>T c.(319-321)ctG>ctT p.L107L PSG4_ENST00000433626.2_Silent_p.L107L|PSG4_ENST00000244295.9_Silent_p.L107L NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 107 Ig-like V-type. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TCTGGATCAGCAGGGATGCAT 0.443000 48 173 1.54886e-18 1.79152e-18 1 1 0 OXR1 55074 broad.mit.edu 37 8 107719292 107719292 + Missense_Mutation SNP A A G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr8:107719292A>G ENST00000445937.1 + 9 1804 c.1543A>G c.(1543-1545)Aaa>Gaa p.K515E OXR1_ENST00000452423.2_Missense_Mutation_p.K5E|OXR1_ENST00000517566.2_Missense_Mutation_p.K515E|OXR1_ENST00000497705.1_Missense_Mutation_p.K448E|OXR1_ENST00000312046.6_Missense_Mutation_p.K508E|OXR1_ENST00000442977.2_Missense_Mutation_p.K516E|OXR1_ENST00000531443.1_Missense_Mutation_p.K515E NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 516 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) GCAACAAACTAAACAGCAAAG 0.363000 3 55 0 0 1 0 0 ITGB7 3695 broad.mit.edu 37 12 53586139 53586139 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr12:53586139G>A ENST00000267082.5 - 14 2361 c.2130C>T c.(2128-2130)gtC>gtT p.V710V ITGB7_ENST00000422257.3_Silent_p.V710V|ITGB7_ENST00000550743.2_Silent_p.V562V|ITGB7_ENST00000338737.4_Silent_p.V562V NM_000889.1 NP_000880.1 P26010 ITB7_HUMAN integrin, beta 7 710 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTCTGAGCACGACCGTGCCTC 0.562000 11 32 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27409451 27409451 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr10:27409451C>G ENST00000326799.3 - 14 1643 c.1495G>C c.(1495-1497)Gac>Cac p.D499H YME1L1_ENST00000376016.3_Missense_Mutation_p.D442H|YME1L1_ENST00000375972.3_Missense_Mutation_p.D409H NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 499 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 ACTTGCATGTCAAAACGACCA 0.328000 28 57 0 0 1 0 0 TMEM106C 79022 broad.mit.edu 37 12 48359105 48359105 + Missense_Mutation SNP T T A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr12:48359105T>A ENST00000429772.2 + 3 341 c.228T>A c.(226-228)gaT>gaA p.D76E TMEM106C_ENST00000552561.1_Missense_Mutation_p.D76E|TMEM106C_ENST00000552546.1_Intron|TMEM106C_ENST00000256686.6_Missense_Mutation_p.D76E|TMEM106C_ENST00000550552.1_Missense_Mutation_p.D76E|TMEM106C_ENST00000449758.2_Missense_Mutation_p.D76E|TMEM106C_ENST00000549288.1_Intron NM_001143842.1 NP_001137314.1 Q9BVX2 T106C_HUMAN transmembrane protein 106C 76 endoplasmic reticulum membrane|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) CACACAGTGATCAGAGATTGC 0.423000 4 78 0 0 1 0 0 IFI35 3430 broad.mit.edu 37 17 41165209 41165209 + Missense_Mutation SNP A A G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:41165209A>G ENST00000415816.2 + 3 489 c.266A>G c.(265-267)aAa>aGa p.K89R IFI35_ENST00000438323.2_Missense_Mutation_p.K89R NM_005533.4 NP_005524.2 P80217 IN35_HUMAN interferon-induced protein 35 89 response to virus|type I interferon-mediated signaling pathway nucleus protein binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1) 8 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.157) GATGACCCCAAAGGTAAGCTC 0.572000 27 68 0 0 1 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45508984 45508984 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:45508984G>A ENST00000359600.5 - 6 1721 c.1516C>T c.(1516-1518)Cga>Tga p.R506* NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 506 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) CTGATTATTCGCTGTAGGTGG 0.478000 21 101 0 0 1 0 0 CLEC4F 165530 broad.mit.edu 37 2 71043923 71043923 + Missense_Mutation SNP G G A rs149379407 TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:71043923G>A ENST00000272367.2 - 4 666 c.590C>T c.(589-591)aCg>aTg p.T197M CLEC4F_ENST00000426626.1_Missense_Mutation_p.T197M NM_001258027.1|NM_173535.2 NP_001244956.1|NP_775806.2 Q8N1N0 CLC4F_HUMAN C-type lectin domain family 4, member F 197 endocytosis integral to membrane receptor activity|sugar binding endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 37 GAAATTCAGCGTCTGGAAAGT 0.428000 16 62 0 0 1 0 0 RBM44 375316 broad.mit.edu 37 2 238726013 238726013 + Nonsense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:238726013C>T ENST00000316997.4 + 3 586 c.454C>T c.(454-456)Caa>Taa p.Q152* RBM44_ENST00000409864.1_Nonsense_Mutation_p.Q152*|RBM44_ENST00000444524.2_Intron NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 151 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) TTTGGAACATCAAGATAAGAC 0.328000 9 4 0 0 1 0 0 FBN1 2200 broad.mit.edu 37 15 48736840 48736840 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr15:48736840G>C ENST00000316623.5 - 49 6390 c.5935C>G c.(5935-5937)Cta>Gta p.L1979V NM_000138.4 NP_000129 P35555 FBN1_HUMAN fibrillin 1 1979 EGF-like 34; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CTGGGTTCTAGAAGACATTCA 0.388000 11 45 0 0 1 0 0 ADAM2 2515 broad.mit.edu 37 8 39644567 39644567 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr8:39644567C>A ENST00000265708.4 - 10 920 c.817G>T c.(817-819)Gaa>Taa p.E273* ADAM2_ENST00000347580.4_Nonsense_Mutation_p.E254*|ADAM2_ENST00000521880.1_Nonsense_Mutation_p.E273*|ADAM2_ENST00000379853.2_Intron NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 273 Peptidase M12B. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TTTGACTTTTCTCTGTAACTT 0.274000 13 30 0.00185496 0.00189315 1 1 0 PCDHA13 56136 broad.mit.edu 37 5 140263626 140263626 + Silent SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr5:140263626G>T ENST00000289272.2 + 1 1773 c.1773G>T c.(1771-1773)gtG>gtT p.V591V PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.V591V|PCDHA2_ENST00000526136.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCACGTGGTGGCGAAGGTGC 0.701000 14 76 0.0202918 0.0204094 1 1 0 FBXW12 285231 broad.mit.edu 37 3 48422240 48422240 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr3:48422240C>A ENST00000296438.5 + 8 1009 c.823C>A c.(823-825)Ctg>Atg p.L275M FBXW12_ENST00000415155.1_Missense_Mutation_p.L205M|FBXW12_ENST00000445170.1_Missense_Mutation_p.L256M|FBXW12_ENST00000436231.1_Missense_Mutation_p.L118M|FBXW12_ENST00000468158.1_3'UTR NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 275 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAGTGTTCCTCTGTCTACCTT 0.478000 47 44 1.19451e-25 1.40032e-25 1 1 0 VTI1B 10490 broad.mit.edu 37 14 68118199 68118199 + Splice_Site SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr14:68118199C>G ENST00000554659.1 - 6 944 c.e6-1 ARG2_ENST00000261783.3_3'UTR NM_006370.2 NP_006361.1 Q9UEU0 VTI1B_HUMAN vesicle transport through interaction with t-SNAREs 1B cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis endomembrane system|integral to membrane endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1) 5 all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941) GGTTGTCACTCTACAAAGAGA 0.473000 15 19 0 0 1 0 0 DUSP5 1847 broad.mit.edu 37 10 112269920 112269920 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr10:112269920G>A ENST00000369583.3 + 4 1175 c.891G>A c.(889-891)agG>agA p.R297R DUSP5_ENST00000468749.1_3'UTR NM_004419.3 NP_004410.3 Q16690 DUS5_HUMAN dual specificity phosphatase 5 297 Tyrosine-protein phosphatase. endoderm formation|inactivation of MAPK activity nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 13 Breast(234;0.0848) Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12) AGCAGAGGAGGAGCATGGTCT 0.582000 22 22 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198950569 198950569 + Silent SNP T T C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:198950569T>C ENST00000428675.1 + 2 2726 c.2328T>C c.(2326-2328)ccT>ccC p.P776P PLCL1_ENST00000437704.2_Silent_p.P678P NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 776 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) GTGATAATCCTATTTTTGATG 0.393000 46 44 0 0 1 0 0 GCOM1 145781 broad.mit.edu 37 15 57913883 57913883 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr15:57913883C>T ENST00000574161.1 + 4 515 c.396C>T c.(394-396)ctC>ctT p.L132L GCOM1_ENST00000380561.2_Intron|GCOM1_ENST00000380569.2_Silent_p.L132L|GCOM1_ENST00000572390.1_Silent_p.L132L|GCOM1_ENST00000380568.3_Silent_p.L132L|GCOM1_ENST00000396180.1_Intron|GCOM1_ENST00000380560.2_Intron|MYZAP_ENST00000267853.5_Silent_p.L132L|POLR2M_ENST00000380563.2_Intron|MYZAP_ENST00000380565.4_Silent_p.L132L|GCOM1_ENST00000587652.1_Silent_p.L132L NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 132 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 TTCGACAGCTCACCCAGGAAC 0.463000 27 44 0 0 1 0 0 CADM4 199731 broad.mit.edu 37 19 44131011 44131011 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:44131011C>G ENST00000222374.2 - 4 472 c.424G>C c.(424-426)Gag>Cag p.E142Q NM_145296.1 NP_660339.1 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 142 Ig-like C2-type 1. cell adhesion integral to membrane endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) CAGCTGAGCTCCACCTCGCCG 0.662000 15 23 0 0 1 0 0 HHLA2 11148 broad.mit.edu 37 3 108076794 108076794 + Missense_Mutation SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr3:108076794G>T ENST00000357759.5 + 6 1203 c.789G>T c.(787-789)atG>atT p.M263I HHLA2_ENST00000491820.1_Missense_Mutation_p.M263I|HHLA2_ENST00000467562.1_Missense_Mutation_p.M199I|HHLA2_ENST00000467761.1_Missense_Mutation_p.M263I|HHLA2_ENST00000489514.2_Missense_Mutation_p.M263I NM_007072.2 NP_009003.1 Q9UM44 HHLA2_HUMAN HERV-H LTR-associating 2 263 Ig-like V-type 2. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 GGTCCAGAATGAAAAGTGGGA 0.383000 25 100 4.4004e-07 4.68386e-07 1 1 0 USO1 8615 broad.mit.edu 37 4 76703933 76703933 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr4:76703933G>A ENST00000538159.1 + 9 783 c.783G>A c.(781-783)atG>atA p.M261I USO1_ENST00000514213.2_Missense_Mutation_p.M244I O60763 USO1_HUMAN USO1 vesicle transport factor 259 Globular head. intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity p.M261I(1)|p.M187I(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTCAACGTATGAAACCTTGGT 0.323000 7 9 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134048613 134048613 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:134048613C>A ENST00000534548.2 - 22 2762 c.2698G>T c.(2698-2700)Gag>Tag p.E900* NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 900 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GCTGGGGCCTCACTGCTGCCT 0.507000 54 37 1.4709e-25 1.71853e-25 1 1 0 GNAO1 2775 broad.mit.edu 37 16 56377688 56377688 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr16:56377688C>A ENST00000262494.7 + 8 1151 c.891C>A c.(889-891)ttC>ttA p.F297L GNAO1_ENST00000262493.6_Intron NM_138736.2 NP_620073.2 P09471 GNAO_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O 297 dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1) 17 all_neural(199;0.159) CCAGCGCCTTCACAGAAGCCG 0.612000 6 9 0.217242 0.217242 1 1 0 C3P1 388503 broad.mit.edu 37 19 10163262 10163262 + RNA SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:10163262C>T ENST00000495140.1 + 0 1521 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 GTACCCGACACGGAGGCGGAA 0.562000 12 48 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50534524 50534524 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr15:50534524C>T ENST00000267845.3 - 12 2324 c.1922G>A c.(1921-1923)aGc>aAc p.S641N HDC_ENST00000543581.1_Missense_Mutation_p.S608N NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 641 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) TTCAGGAAAGCTGGGGACGCT 0.498000 17 63 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23913994 23913994 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr13:23913994G>A ENST00000382298.3 - 10 4609 c.4021C>T c.(4021-4023)Ctc>Ttc p.L1341F SACS_ENST00000382292.3_Missense_Mutation_p.L1341F|SACS_ENST00000402364.1_Missense_Mutation_p.L591F NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1341 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TCACTTTTGAGATATATCTTC 0.353000 21 28 0 0 1 0 0 STK25 10494 broad.mit.edu 37 2 242441050 242441050 + Missense_Mutation SNP T T C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:242441050T>C ENST00000316586.4 - 3 453 c.104A>G c.(103-105)tAc>tGc p.Y35C STK25_ENST00000405585.1_Intron|STK25_ENST00000405883.3_Intron|STK25_ENST00000401869.1_Missense_Mutation_p.Y35C|STK25_ENST00000535007.1_5'UTR|STK25_ENST00000543554.1_5'UTR|STK25_ENST00000403346.3_Missense_Mutation_p.Y35C NM_001271977.1|NM_001271978.1|NM_001282308.1 NP_001258906.1|NP_001258907.1|NP_001269237.1 O00506 STK25_HUMAN serine/threonine kinase 25 35 Protein kinase. response to oxidative stress|signal transduction Golgi apparatus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 10 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839) GATGCCCTTGTAGACCTCCCC 0.597000 18 52 0 0 1 0 0 EPCAM 4072 broad.mit.edu 37 2 47606937 47606937 + Missense_Mutation SNP G G C rs13398742 TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:47606937G>C ENST00000263735.4 + 7 1045 c.687G>C c.(685-687)aaG>aaC p.K229N EPCAM_ENST00000405271.1_Missense_Mutation_p.K257N NM_002354.2 NP_002345.2 P16422 EPCAM_HUMAN epithelial cell adhesion molecule 229 positive regulation of cell proliferation apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction protein binding p.0?(2)|p.?(1) endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1) 15 TTCATTCTAAGAAAATGGACC 0.343000 16 67 0 0 1 0 0 RPP25L 138716 broad.mit.edu 37 9 34611039 34611039 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr9:34611039G>A ENST00000297613.4 - 2 535 c.255C>T c.(253-255)acC>acT p.T85T RPP25L_ENST00000378959.4_Silent_p.T85T NM_148179.2 NP_680545.1 Q8N5L8 CI023_HUMAN ribonuclease P/MRP 25kDa subunit-like 85 nucleic acid binding AACGTAGCTTGGTGAGCTGGT 0.622000 15 32 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176664989 176664989 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:176664989G>A ENST00000367662.3 + 7 3904 c.2740G>A c.(2740-2742)Gct>Act p.A914T NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 914 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 CCCAGAGGAGGCTGTGGGTAA 0.522000 9 75 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13605472 13605472 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr4:13605472C>G ENST00000040738.5 - 10 3187 c.3052G>C c.(3052-3054)Gat>Cat p.D1018H NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1018 Lys-rich. DNA binding TTGTGGCCATCTGACAACTTT 0.378000 86 145 0 0 1 0 0 ZHX1 11244 broad.mit.edu 37 8 124267727 124267727 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr8:124267727C>G ENST00000395571.3 - 3 1077 c.460G>C c.(460-462)Gat>Cat p.D154H ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.D154H|ZHX1_ENST00000297857.2_Missense_Mutation_p.D154H NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 154 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) AAACTACCATCAAAAGTCAGA 0.333000 22 147 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27100139 27100139 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:27100139C>A ENST00000324856.7 + 16 4306 c.3935C>A c.(3934-3936)tCc>tAc p.S1312Y ARID1A_ENST00000374152.2_Missense_Mutation_p.S929Y|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1312Y|ARID1A_ENST00000540690.1_5'UTR NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1312 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CTCATGCCTTCCAACCCAGAC 0.582000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 12 54 0.000219431 0.000226615 1 1 0 CUZD1 50624 broad.mit.edu 37 10 124594541 124594541 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr10:124594541G>C ENST00000368904.1 - 9 2012 c.1063C>G c.(1063-1065)Cgt>Ggt p.R355G CUZD1_ENST00000392790.1_Missense_Mutation_p.R355G|CUZD1_ENST00000545804.1_Missense_Mutation_p.R355G Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 355 ZP. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) TGTTTCTGACGGGTGATCACT 0.343000 14 44 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688590 26688590 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr22:26688590G>A ENST00000529632.2 + 2 509 c.313G>A c.(313-315)Gag>Aag p.E105K SEZ6L_ENST00000404234.3_Missense_Mutation_p.E105K|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000343706.4_Missense_Mutation_p.E105K|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E105K|SEZ6L_ENST00000360929.3_Missense_Mutation_p.E105K NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 105 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GCTGCTTCCAGAGGAGGCCCG 0.642000 17 8 0 0 1 0 0 WFS1 7466 broad.mit.edu 37 4 6303043 6303043 + Silent SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr4:6303043C>G ENST00000226760.1 + 8 1691 c.1521C>G c.(1519-1521)ctC>ctG p.L507L WFS1_ENST00000503569.1_Silent_p.L507L NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 507 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) CGTGCCTGCTCTATGTCTACC 0.567000 19 58 0 0 1 0 0 SSX7 280658 broad.mit.edu 37 X 52682477 52682477 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chrX:52682477G>C ENST00000298181.5 - 2 204 c.46C>G c.(46-48)Caa>Gaa p.Q16E NM_173358.2 NP_775494.1 Q7RTT5 SSX7_HUMAN synovial sarcoma, X breakpoint 7 16 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding p.Q16E(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1) 16 Ovarian(276;0.236) TCTGGTATTTGAGCACCAGCC 0.567000 118 60 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42171676 42171676 + Silent SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr15:42171676C>G ENST00000320955.6 - 16 3191 c.2964G>C c.(2962-2964)ctG>ctC p.L988L NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 988 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TCTCCCTCTTCAGGGCCTCCA 0.627000 4 3 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112667636 112667636 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr12:112667636C>G ENST00000550722.1 - 41 6342 c.5947G>C c.(5947-5949)Gaa>Caa p.E1983Q HECTD4_ENST00000377560.5_Missense_Mutation_p.E1957Q|HECTD4_ENST00000430131.2_Missense_Mutation_p.E1707Q NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 AGAATGCTTTCTGCGTATTTC 0.478000 13 33 0 0 1 0 0 KRT16P1 729252 broad.mit.edu 37 17 18343801 18343801 + RNA SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:18343801C>A ENST00000581027.1 + 0 406 ATAGTCCCTACTTCAAGACCA 0.552000 17 21 3.51602e-12 4.02659e-12 1 1 0 CUZD1 50624 broad.mit.edu 37 10 124594532 124594532 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr10:124594532G>A ENST00000368904.1 - 9 2021 c.1072C>T c.(1072-1074)Caa>Taa p.Q358* CUZD1_ENST00000392790.1_Nonsense_Mutation_p.Q358*|CUZD1_ENST00000545804.1_Nonsense_Mutation_p.Q358* Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 358 ZP. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) ATCTGGAGTTGTTTCTGACGG 0.368000 16 53 0 0 1 0 0 WWTR1 25937 broad.mit.edu 37 3 149238715 149238715 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr3:149238715G>C ENST00000465804.1 - 8 1336 c.1080C>G c.(1078-1080)ttC>ttG p.F360L WWTR1_ENST00000360632.3_Missense_Mutation_p.F360L|WWTR1_ENST00000467467.1_Missense_Mutation_p.F360L NM_001168278.1 NP_001161750.1 Q9GZV5 WWTR1_HUMAN WW domain containing transcription regulator 1 360 hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) GACAGTCAAGGAAATCAGGGA 0.413000 T CAMTA1 epitheliod hemangioendothelioma 28 140 0 0 1 0 0 PTPN20B 26095 broad.mit.edu 37 10 48771356 48771356 + Missense_Mutation SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr10:48771356G>T ENST00000395668.1 - 6 571 c.299C>A c.(298-300)cCa>cAa p.P100Q PTPN20B_ENST00000514592.1_Intron|PTPN20B_ENST00000512924.1_Intron|PTPN20B_ENST00000514491.1_Missense_Mutation_p.P172Q|PTPN20B_ENST00000374240.3_Missense_Mutation_p.P181Q|PTPN20B_ENST00000374235.2_Intron|PTPN20B_ENST00000502266.1_Missense_Mutation_p.P100Q|PTPN20B_ENST00000512321.1_Intron|PTPN20B_ENST00000395662.3_Missense_Mutation_p.P100Q|PTPN20B_ENST00000511387.1_Intron|PTPN20B_ENST00000374233.3_Missense_Mutation_p.P181Q|PTPN20B_ENST00000395660.2_Missense_Mutation_p.P153Q|PTPN20B_ENST00000509753.1_Missense_Mutation_p.P153Q|PTPN20B_ENST00000395661.3_Intron|PTPN20B_ENST00000509631.1_Missense_Mutation_p.P100Q|PTPN20B_ENST00000510840.1_Intron|PTPN20B_ENST00000331650.4_Missense_Mutation_p.P100Q|PTPN20B_ENST00000509230.1_Missense_Mutation_p.P172Q|PTPN20B_ENST00000515532.1_Missense_Mutation_p.P181Q|PTPN20B_ENST00000507417.1_Missense_Mutation_p.P153Q|PTPN20B_ENST00000395674.2_Intron|PTPN20B_ENST00000509544.1_Intron NM_001042363.3 NP_001035822.1 protein tyrosine phosphatase, non-receptor type 20B large_intestine(1)|lung(1) 2 Kidney(211;0.201) TCTGTTGCTTGGTTGATTCCC 0.289000 16 33 4.26978e-12 4.87373e-12 1 1 0 OR4E2 26686 broad.mit.edu 37 14 22133302 22133302 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr14:22133302C>T ENST00000408935.1 + 1 6 c.6C>T c.(4-6)gaC>gaT p.D2D NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) ATTGAATGGACAGTCTAAACC 0.343000 4 86 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18075496 18075496 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:18075496C>G ENST00000205890.5 + 64 10580 c.10242C>G c.(10240-10242)ttC>ttG p.F3414L MYO15A_ENST00000418233.3_Missense_Mutation_p.F678L|MYO15A_ENST00000451725.2_Missense_Mutation_p.S208W NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 3414 FERM.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TACCTATGTTCGGCTCCTCCT 0.577000 14 21 0 0 1 0 0 IGKV1-17 28937 broad.mit.edu 37 2 89417047 89417047 + RNA SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:89417047C>T ENST00000490686.1 - 0 163 CTGACTTGCCCGGCAAGTGAT 0.507000 33 149 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56472872 56472872 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:56472872C>G ENST00000370754.5 - 39 6454 c.6455G>C c.(6454-6456)gGa>gCa p.G2152A DST_ENST00000361203.3_Missense_Mutation_p.G1974A|DST_ENST00000446842.2_Missense_Mutation_p.G1648A|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.G1974A|DST_ENST00000370769.4_Missense_Mutation_p.G1974A|DST_ENST00000244364.6_Intron Q03001 DYST_HUMAN dystonin 1974 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGGTTCTTCTCCATCAAAAAC 0.348000 13 49 0 0 1 0 0 GPHB5 122876 broad.mit.edu 37 14 63779780 63779780 + RNA SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr14:63779780G>A ENST00000539258.1 - 0 310 Q86YW7 GPHB5_HUMAN glycoprotein hormone beta 5 extracellular region hormone activity breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) TCTCGTTGTAGGTACAGACTC 0.507000 6 7 0 0 1 0 0 SUSD5 26032 broad.mit.edu 37 3 33194476 33194476 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr3:33194476C>A ENST00000309558.3 - 5 2065 c.1648G>T c.(1648-1650)Ggt>Tgt p.G550C NM_015551.1 NP_056366.1 O60279 SUSD5_HUMAN sushi domain containing 5 550 cell adhesion integral to membrane hyaluronic acid binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TCACTTGCACCTGGCCCGGGG 0.582000 5 28 0.014758 0.0148867 1 1 0 COPS2 9318 broad.mit.edu 37 15 49426283 49426283 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr15:49426283C>G ENST00000388901.5 - 8 811 c.738G>C c.(736-738)ttG>ttC p.L246F COPS2_ENST00000299259.6_Missense_Mutation_p.L253F|COPS2_ENST00000542928.1_Missense_Mutation_p.L182F NM_001143887.1|NM_004236.3 NP_001137359.1|NP_004227.1 P61201 CSN2_HUMAN COP9 signalosome subunit 2 246 cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2) 18 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) CACCTTCCCTCAAGTGCATTT 0.353000 4 49 0 0 1 0 0 ZFYVE16 9765 broad.mit.edu 37 5 79768642 79768642 + Nonsense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr5:79768642C>T ENST00000338008.5 + 15 4267 c.4087C>T c.(4087-4089)Cag>Tag p.Q1363* ZFYVE16_ENST00000505560.1_Nonsense_Mutation_p.Q1363*|ZFYVE16_ENST00000510158.1_Nonsense_Mutation_p.Q1363* NM_001284236.1|NM_014733.3 NP_001271165.1|NP_055548 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 1363 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) TTTACGAGAACAGAAAGACTT 0.393000 9 51 0 0 1 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94342807 94342807 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:94342807C>G ENST00000436063.2 - 2 741 c.684G>C c.(682-684)caG>caC p.Q228H DNTTIP2_ENST00000460191.1_5'UTR NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 228 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) TACCCACGATCTGTTTCTCAT 0.373000 27 108 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143570758 143570758 + Silent SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr8:143570758C>T ENST00000517894.1 + 16 3484 c.2590C>T c.(2590-2592)Ctg>Ttg p.L864L BAI1_ENST00000323289.5_Silent_p.L864L O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 864 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GCCTCGCTCCCTGCGCACACC 0.587000 51 54 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 652789 652789 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr4:652789G>A ENST00000255622.6 + 11 1493 c.1450G>A c.(1450-1452)Gag>Aag p.E484K PDE6B_ENST00000496514.1_Missense_Mutation_p.E484K|PDE6B_ENST00000429163.2_Missense_Mutation_p.E205K NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 484 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CGATGAGGACGAGCTGGGCGA 0.607000 6 27 0 0 1 0 0 GALNTL5 168391 broad.mit.edu 37 7 151711863 151711863 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr7:151711863G>A ENST00000392800.2 + 8 1415 c.1161G>A c.(1159-1161)tgG>tgA p.W387* GALNTL5_ENST00000431418.2_Nonsense_Mutation_p.W387* NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 387 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) TGCACGTTTGGCTGGATGAAT 0.468000 7 35 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161016488 161016488 + Missense_Mutation SNP A A T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:161016488A>T ENST00000447678.1 - 22 3487 c.3367T>A c.(3367-3369)Tgg>Agg p.W1123R LPA_ENST00000316300.5_Missense_Mutation_p.W1123R NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3631 Kringle 10. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CAGTACTCCCACCTGACACTG 0.507000 30 152 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27101089 27101089 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:27101089C>G ENST00000324856.7 + 18 4742 c.4371C>G c.(4369-4371)ttC>ttG p.F1457L ARID1A_ENST00000374152.2_Missense_Mutation_p.F1074L|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1457 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AATTTCCATTCCAGTTTGGCC 0.577000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 11 55 0 0 1 0 0 SS18 6760 broad.mit.edu 37 18 23619308 23619308 + Missense_Mutation SNP T T A rs61731053 TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr18:23619308T>A ENST00000415083.2 - 6 775 c.720A>T c.(718-720)caA>caT p.Q240H SS18_ENST00000539849.1_Missense_Mutation_p.Q158H|SS18_ENST00000545952.1_Missense_Mutation_p.Q188H|SS18_ENST00000269137.7_Missense_Mutation_p.Q240H|SS18_ENST00000542743.1_Missense_Mutation_p.Q188H|SS18_ENST00000542420.2_Missense_Mutation_p.Q217H NM_001007559.1|NM_005637.2 NP_001007560.1|NP_005628.2 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 240 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12) endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1) 19 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) TATGATTGCCTTGGTTAACTT 0.453000 T """SSX1, SSX2""" synovial sarcoma 18 150 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 3 47 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196883793 196883793 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:196883793C>A ENST00000367416.2 + 8 1483 c.1346C>A c.(1345-1347)aCa>aAa p.T449K CFHR4_ENST00000251424.4_Missense_Mutation_p.T203K|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367418.2_Missense_Mutation_p.T203K NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 CATTTCCCAACATGTTATAGT 0.328000 12 27 7.03913e-09 7.75421e-09 1 1 0 TNXB 7148 broad.mit.edu 37 6 32064745 32064745 + Nonsense_Mutation SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:32064745G>T ENST00000375244.3 - 3 1086 c.885C>A c.(883-885)tgC>tgA p.C295* TNXB_ENST00000375247.2_Nonsense_Mutation_p.C295*|TNXB_ENST00000479795.1_Nonsense_Mutation_p.C295* P22105 TENX_HUMAN tenascin XB 295 EGF-like 5. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGTTACACACGCAGCGCCCAT 0.682000 13 23 4.3838e-07 4.68055e-07 1 1 0 ASCL1 429 broad.mit.edu 37 12 103352695 103352695 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr12:103352695G>A ENST00000266744.3 + 1 1232 c.673G>A c.(673-675)Gag>Aag p.E225K NM_004316.3 NP_004307.2 P50553 ASCL1_HUMAN achaete-scute family bHLH transcription factor 1 225 cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity NS(3)|large_intestine(1)|lung(1) 5 GCTCAGCCCCGAGGAGCAGGA 0.602000 5 18 0 0 1 0 0 DNMT3L 29947 broad.mit.edu 37 21 45668950 45668950 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr21:45668950C>G ENST00000270172.3 - 11 1437 c.954G>C c.(952-954)caG>caC p.Q318H DNMT3L_ENST00000418993.1_Missense_Mutation_p.Q318H NM_013369.3 NP_037501.2 Q9UJW3 DNM3L_HUMAN DNA (cytosine-5-)-methyltransferase 3-like 318 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) GGACAGCATTCTGCAAGGATC 0.632000 5 8 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47886634 47886634 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr20:47886634C>G ENST00000396105.1 - 3 1961 c.1715G>C c.(1714-1716)aGa>aCa p.R572T ZNFX1_ENST00000371752.1_Missense_Mutation_p.R572T|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R572T NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 572 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTCGACATTTCTTAGAAATTC 0.483000 38 72 0 0 1 0 0 EIF6 3692 broad.mit.edu 37 20 33872139 33872139 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr20:33872139G>A ENST00000374443.3 - 2 201 c.152C>T c.(151-153)gCa>gTa p.A51V EIF6_ENST00000374436.3_Intron|EIF6_ENST00000462894.1_Intron|EIF6_ENST00000374450.3_Intron NM_181466.2 NP_852131.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 54 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(18;0.00252) CTTGACTCCTGCGCACGCCTC 0.657000 46 89 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52514222 52514222 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr3:52514222C>T ENST00000345716.4 + 13 1573 c.1439C>T c.(1438-1440)tCa>tTa p.S480L NISCH_ENST00000479054.1_Missense_Mutation_p.S480L|NISCH_ENST00000488380.1_Missense_Mutation_p.S480L|NISCH_ENST00000420808.2_Missense_Mutation_p.S480L NM_007184.3 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 480 Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes. apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) TCCCGGCTCTCAGCTGCCCCC 0.632000 4 34 0 0 1 0 0 ASPG 374569 broad.mit.edu 37 14 104571731 104571731 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr14:104571731C>A ENST00000551177.1 + 10 1209 c.1117C>A c.(1117-1119)Cag>Aag p.Q373K ASPG_ENST00000455920.2_Missense_Mutation_p.Q373K|ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000546892.2_Missense_Mutation_p.Q373K NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 373 lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 GCCCTCACTGCAGGGCAACAC 0.667000 5 14 0.000602214 0.000620084 1 1 0 SLC27A3 11000 broad.mit.edu 37 1 153748376 153748376 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:153748376C>T ENST00000271857.2 + 1 1547 c.787C>T c.(787-789)Ccg>Tcg p.P263S SLC27A3_ENST00000368661.3_Missense_Mutation_p.P182S|SLC27A3_ENST00000484014.1_Intron Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 182 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCGGGCAGCGCCGGGAGCCGG 0.751000 19 10 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16895715 16895715 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:16895715C>T ENST00000430580.2 - 23 3354 c.2467G>A c.(2467-2469)Gaa>Aaa p.E823K NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 823 NBPF 4.|Poly-Glu. 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) TCCTCCTCTTCAGACTCCTGC 0.483000 38 287 0 0 1 0 0 PDE11A 50940 broad.mit.edu 37 2 178769908 178769908 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:178769908G>A ENST00000286063.6 - 3 1395 c.1078C>T c.(1078-1080)Cag>Tag p.Q360* PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000358450.4_Nonsense_Mutation_p.Q110*|PDE11A_ENST00000449286.2_Nonsense_Mutation_p.Q2*|PDE11A_ENST00000409504.1_Nonsense_Mutation_p.Q2* NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.Q360K(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) AGATACATCTGCATAACCTGG 0.368000 Primary Pigmented Nodular Adrenocortical Disease, Familial 3 34 0 0 1 0 0 HSPA12B 116835 broad.mit.edu 37 20 3723036 3723036 + Nonsense_Mutation SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr20:3723036G>T ENST00000254963.2 + 4 392 c.247G>T c.(247-249)Gag>Tag p.E83* HSPA12B_ENST00000542646.1_Intron NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 83 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 CAGTGACCCTGAGGCCATCCA 0.592000 9 16 2.17888e-05 2.27048e-05 1 1 0 POU4F3 5459 broad.mit.edu 37 5 145719367 145719367 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr5:145719367C>A ENST00000230732.4 + 2 466 c.377C>A c.(376-378)aCg>aAg p.T126K CTC-359M8.1_ENST00000515598.1_RNA NM_002700.2 NP_002691.1 Q15319 PO4F3_HUMAN POU class 4 homeobox 3 126 sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATCTCGCCCACGCTGAGTGTG 0.682000 4 20 0.150653 0.151089 1 1 0 UBR2 23304 broad.mit.edu 37 6 42658809 42658809 + Silent SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:42658809G>A ENST00000372899.1 + 47 5424 c.5166G>A c.(5164-5166)aaG>aaA p.K1722K UBR2_ENST00000372901.1_Silent_p.K1722K|UBR2_ENST00000372883.3_3'UTR NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 1722 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) AGCGATTCAAGAAGATTCAGA 0.418000 27 43 0 0 1 0 0 MATN1 4146 broad.mit.edu 37 1 31189069 31189069 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:31189069G>C ENST00000373765.4 - 5 929 c.894C>G c.(892-894)atC>atG p.I298M MATN1_ENST00000477320.1_5'UTR NM_002379.3 NP_002370.1 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein 298 VWFA 2. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) CGATCTGACTGATGAACTTCT 0.587000 16 58 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10647851 10647851 + Missense_Mutation SNP G G C TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr11:10647851G>C ENST00000547195.1 - 8 1257 c.757C>G c.(757-759)Ctg>Gtg p.L253V MRVI1_ENST00000531107.1_Missense_Mutation_p.L336V|MRVI1_ENST00000534266.2_Missense_Mutation_p.L29V|MRVI1_ENST00000552103.1_Missense_Mutation_p.L253V|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000545852.1_Missense_Mutation_p.L29V|MRVI1_ENST00000527509.2_Missense_Mutation_p.L253V|MRVI1_ENST00000558540.1_Missense_Mutation_p.L29V|MRVI1_ENST00000423302.2_Missense_Mutation_p.L344V|MRVI1_ENST00000421747.1_Missense_Mutation_p.L335V|MRVI1_ENST00000424001.1_Missense_Mutation_p.L29V|MRVI1_ENST00000436272.1_Missense_Mutation_p.L317V NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 317 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) CTTCTCGGCAGAGGGCTGCCC 0.667000 3 8 0 0 1 0 0 FXYD5 53827 broad.mit.edu 37 19 35657156 35657156 + Missense_Mutation SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:35657156G>A ENST00000342879.3 + 7 1193 c.415G>A c.(415-417)Gaa>Aaa p.E139K FXYD5_ENST00000591716.2_3'UTR|FXYD5_ENST00000588699.1_Missense_Mutation_p.E139K|FXYD5_ENST00000392217.3_Missense_Mutation_p.E68K|FXYD5_ENST00000541435.2_Missense_Mutation_p.E139K|FXYD5_ENST00000392219.2_Missense_Mutation_p.E139K|FXYD5_ENST00000423817.3_Missense_Mutation_p.E139K|FXYD5_ENST00000590686.1_Missense_Mutation_p.E139K|FXYD5_ENST00000543307.1_Missense_Mutation_p.E139K Q96DB9 FXYD5_HUMAN FXYD domain containing ion transport regulator 5 139 microvillus assembly|negative regulation of calcium-dependent cell-cell adhesion integral to membrane actin binding|cadherin binding|ion channel activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3) 9 all_lung(56;9.4e-09)|Lung NSC(56;1.4e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.75e-22)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;7.07e-19)|LUSC - Lung squamous cell carcinoma(66;0.0221) CTCTGCAGATGAACACACCCT 0.532000 67 173 0 0 1 0 0 NDUFAB1 4706 broad.mit.edu 37 16 23598533 23598533 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr16:23598533C>G ENST00000570319.1 - 2 276 c.276G>C c.(274-276)aaG>aaC p.K92N NDUFAB1_ENST00000007516.3_Missense_Mutation_p.K92N O14561 ACPM_HUMAN NADH dehydrogenase (ubiquinone) 1, alpha/beta subcomplex, 1, 8kDa 92 fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone mitochondrial matrix|mitochondrial respiratory chain complex I acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|NADH dehydrogenase (ubiquinone) activity|phosphopantetheine binding endometrium(1)|large_intestine(1)|lung(1) 3 GBM - Glioblastoma multiforme(48;0.0339) NADH(DB00157) CTGGGTCAATCTTGTCATAGA 0.393000 37 38 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 49027244 49027244 + Missense_Mutation SNP A A G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr13:49027244A>G ENST00000267163.4 + 18 1949 c.1811A>G c.(1810-1812)gAt>gGt p.D604G NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 604 Pocket; binds T and E1A.|Spacer. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(10) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ACTGCAGCAGATATGTAAGCA 0.348000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 14 30 0 0 1 0 0 RANBP3L 202151 broad.mit.edu 37 5 36269539 36269539 + Missense_Mutation SNP C C T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr5:36269539C>T ENST00000296604.3 - 4 706 c.221G>A c.(220-222)cGg>cAg p.R74Q RANBP3L_ENST00000515759.1_Missense_Mutation_p.R74Q|RANBP3L_ENST00000502994.1_Missense_Mutation_p.R74Q NM_145000.3 NP_659437.3 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like 74 intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) AGATGAAGACCGTACACGCTT 0.353000 18 96 0 0 1 0 0 RBM45 129831 broad.mit.edu 37 2 178990897 178990897 + Silent SNP T T G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:178990897T>G ENST00000286070.5 + 9 1511 c.1419T>G c.(1417-1419)acT>acG p.T473T RBM45_ENST00000464647.1_3'UTR NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 475 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) GGCAAAGAACTTACTGATTCT 0.338000 4 47 0 0 1 0 0 ZNF454 285676 broad.mit.edu 37 5 178392947 178392947 + Missense_Mutation SNP T T A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr5:178392947T>A ENST00000320129.3 + 5 1845 c.1542T>A c.(1540-1542)caT>caA p.H514Q ZNF454_ENST00000519564.1_Missense_Mutation_p.H514Q NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) TCATTCAGCATCAGAGACATC 0.383000 12 45 0 0 1 0 0 KDM1B 221656 broad.mit.edu 37 6 18171674 18171674 + Silent SNP T T G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:18171674T>G ENST00000388870.2 + 7 739 c.498T>G c.(496-498)acT>acG p.T166T KDM1B_ENST00000397244.1_Silent_p.T166T|KDM1B_ENST00000297792.5_Silent_p.T166T|KDM1B_ENST00000546309.2_Intron Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 166 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 TAGCCAAGACTTATCGATGCG 0.368000 8 98 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63991080 63991080 + Missense_Mutation SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:63991080C>A ENST00000370658.5 - 4 409 c.376G>T c.(376-378)Gtg>Ttg p.V126L LGSN_ENST00000370657.4_Missense_Mutation_p.V126L NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 126 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TTTGGTATCACTTCAAGATAA 0.368000 25 89 7.41945e-09 8.12161e-09 1 1 0 DPH1 1801 broad.mit.edu 37 17 1944476 1944476 + Splice_Site SNP G G A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:1944476G>A ENST00000263083.6 + 10 1146 c.e10+1 DPH1_ENST00000570477.1_Splice_Site NM_001383.3 NP_001374.3 Q9BZG8 DPH1_HUMAN diphthamide biosynthesis 1 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 ACCCTATGAGGTAACACCAAG 0.587000 6 7 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80409739 80409739 + Splice_Site SNP G G T TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr5:80409739G>T ENST00000265080.4 + 15 2537 c.2470G>T c.(2470-2472)Gca>Tca p.A824S CTD-2193P3.2_ENST00000508993.1_RNA NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 824 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TATTCAAAAAGGTATTATCTA 0.468000 9 53 3.09899e-07 3.31897e-07 1 1 0 ADA 100 broad.mit.edu 37 20 43251678 43251678 + Silent SNP C C A TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr20:43251678C>A ENST00000372874.4 - 7 782 c.648G>T c.(646-648)ggG>ggT p.G216G PKIG_ENST00000372887.1_Intron|ADA_ENST00000537820.1_Intron|PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR NM_000022.2 NP_000013.2 P00813 ADA_HUMAN adenosine deaminase 216 G -> R (in ADASCID; severe; dbSNP:rs121908723). adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1) 18 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) AGCCCACCTCCCCGGCGTGGA 0.652000 Adenosine Deaminase Deficiency 10 61 2.80697e-09 3.11189e-09 1 1 0 ZNF687 57592 broad.mit.edu 37 1 151260185 151260192 + Frame_Shift_Del DEL TGCAACCT TGCAACCT - TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:151260185_151260192delTGCAACCT ENST00000368879.2 + 2 1516_1523 c.1418_1425delTGCAACCT c.(1417-1425)gtgcaacctfs p.VQP473fs NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GTGGTGATGGTGCAACCTTCAAAGACAG 0.611 7 99 --- --- --- --- ARHGEF11 9826 broad.mit.edu 37 1 156911666 156911666 + Frame_Shift_Del DEL T T - TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr1:156911666delT ENST00000368194.3 - 34 4481 c.3442delA c.(3442-3444)acafs p.T1148fs ARHGEF11_ENST00000315174.8_Frame_Shift_Del_p.T524fs|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Frame_Shift_Del_p.T1108fs NM_198236.2 NP_937879.1 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 1108 actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGCTGGGTGTGGGGCCCTGC 0.662 7 71 --- --- --- --- SLC8A1 6546 broad.mit.edu 37 2 40392064 40392078 + In_Frame_Del DEL TCTGCAATGCGCCTC TCTGCAATGCGCCTC - TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr2:40392064_40392078delTCTGCAATGCGCCTC ENST00000406785.2 - 5 2166_2180 c.1977_1991delGAGGCGCATTGCAGA c.(1975-1992)gagaggcgcattgcagaa>gaa p.659_664ERRIAE>E SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000403092.1_In_Frame_Del_p.695_700ERRIAE>E|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_In_Frame_Del_p.690_695ERRIAE>E|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000402441.1_In_Frame_Del_p.659_664ERRIAE>E|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000542024.1_In_Frame_Del_p.659_664ERRIAE>E|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000405901.3_In_Frame_Del_p.690_695ERRIAE>E|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_In_Frame_Del_p.659_664ERRIAE>E|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000408028.2_In_Frame_Del_p.687_692ERRIAE>E|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000332839.4_In_Frame_Del_p.695_700ERRIAE>E|SLC8A1_ENST00000406391.2_In_Frame_Del_p.659_664ERRIAE>E P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.E700fs*15(1) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GCGCCCCATTTCTGCAATGCGCCTCTCCTCTTCCT 0.484 8 110 --- --- --- --- CWC27 10283 broad.mit.edu 37 5 64070590 64070611 + Frame_Shift_Del DEL AATTTTATCCAACTTTGTTTGG AATTTTATCCAACTTTGTTTGG - rs150844528 TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr5:64070590_64070611delAATTTTATCCAACTTTGTTTGG ENST00000508024.1 + 2 316_337 c.115_136delAATTTTATCCAACTTTGTTTGG c.(115-138)aattttatccaactttgtttggaafs p.NFIQLCLE39fs CWC27_ENST00000381070.3_Frame_Shift_Del_p.NFIQLCLE39fs Q6UX04 CWC27_HUMAN CWC27 spliceosome-associated protein homolog (S. cerevisiae) 39 PPIase cyclophilin-type. protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1) 21 AGCTTGCAGAAATTTTATCCAACTTTGTTTGGAAGGTATGTT 0.315 7 166 --- --- --- --- EIF4EBP2P3 100190924 broad.mit.edu 37 6 98627404 98627404 + RNA DEL C C - TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:98627404delC ENST00000607823.1 + 0 352 TGAGCATCATCCCCAACTGCG 0.443 4 7 --- --- --- --- SYNE1 23345 broad.mit.edu 37 6 152653022 152653041 + Splice_Site DEL AGATCTGAAAATACATGGAA AGATCTGAAAATACATGGAA - rs9478314 by1000genomes TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr6:152653022_152653041delAGATCTGAAAATACATGGAA ENST00000367255.5 - 78 13396_13399 c.12795_12798delTTCCATGTATTTTCAGATCT c.(12793-12798)agttcc>ag p.SS4265fs SYNE1_ENST00000423061.1_Splice_Site_p.SS4194fs|SYNE1_ENST00000341594.5_Splice_Site_p.SS4130fs|SYNE1_ENST00000265368.4_Splice_Site_p.SS4265fs|SYNE1_ENST00000448038.1_Splice_Site_p.SS4194fs NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4265 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCTCTGCATCAGATCTGAAAATACATGGAAAGGTATAAGA 0.368 HNSCC(10;0.0054) 10 111 --- --- --- --- SLC25A13 10165 broad.mit.edu 37 7 95820548 95820549 + Frame_Shift_Ins INS - - CC TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr7:95820548_95820549insCC ENST00000416240.2 - 7 816_817 c.626_627insGG c.(625-627)ggtfs p.G209fs SLC25A13_ENST00000542654.1_Frame_Shift_Ins_p.G101fs|SLC25A13_ENST00000265631.5_Frame_Shift_Ins_p.G209fs NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 209 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) GGGATGTGGTACCTCCAGCAGC 0.337 10 59 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101721698 101721712 + In_Frame_Del DEL CTGCCATGAAGTAAC CTGCCATGAAGTAAC - rs146200489 byFrequency TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr8:101721698_101721712delCTGCCATGAAGTAAC ENST00000318607.5 - 8 2348_2362 c.1220_1234delGTTACTTCATGGCAG c.(1219-1236)ggttacttcatggcagct>gct p.GYFMA407del PABPC1_ENST00000522387.1_In_Frame_Del_p.GYFMA375del|PABPC1_ENST00000519004.1_In_Frame_Del_p.GYFMA362del|PABPC1_ENST00000519596.1_5'UTR NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 407 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) TGTGGGATAGCTGCCATGAAGTAACCTGAAGGAGG 0.493 11 103 --- --- --- --- IL15RA 3601 broad.mit.edu 37 10 5995066 5995066 + Frame_Shift_Del DEL G G - TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr10:5995066delG ENST00000525219.2 - 7 982 c.688delC c.(688-690)cacfs p.H230fs IL15RA_ENST00000379977.3_Frame_Shift_Del_p.H266fs|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000528354.1_Frame_Shift_Del_p.H233fs|IL15RA_ENST00000397248.2_Frame_Shift_Del_p.H230fs|IL15RA_ENST00000397251.3_Frame_Shift_Del_p.H201fs|IL15RA_ENST00000397250.2_Frame_Shift_Del_p.H168fs NM_001243539.1 NP_001230468.1 Q13261 I15RA_HUMAN interleukin 15 receptor, alpha 266 cell proliferation cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane cytokine receptor activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 TTTCATAGGTGGTGAGAGCAG 0.562 31 81 --- --- --- --- BRCA2 675 broad.mit.edu 37 13 32913648 32913649 + Frame_Shift_Ins INS - - T rs80359488 TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr13:32913648_32913649insT ENST00000544455.1 + 11 5383_5384 c.5156_5157insT c.(5155-5160)aattcafs p.S1720fs BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.S1720fs NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1720 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TATGAAAATAATTCAAACAGTA 0.297 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 27 40 --- --- --- --- DNAAF1 123872 broad.mit.edu 37 16 84193300 84193300 + Frame_Shift_Del DEL A A - TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr16:84193300delA ENST00000378553.5 + 6 886 c.762delA c.(760-762)ggafs p.G254fs DNAAF1_ENST00000334315.5_Frame_Shift_Del_p.G254fs|DNAAF1_ENST00000563818.1_3'UTR NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 254 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 ATTTGATGGGAAACCCGGTTA 0.388 6 8 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29653188 29653188 + Frame_Shift_Del DEL C C - TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr17:29653188delC ENST00000358273.4 + 37 5569 c.5186delC c.(5185-5187)gccfs p.A1729fs NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Del_p.A1708fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1729 CRAL-TRIO. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CTACCTGCTGCCACCTTGGCT 0.453 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 31 58 --- --- --- --- PRR12 57479 broad.mit.edu 37 19 50102836 50102836 + Frame_Shift_Del DEL C C - TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr19:50102836delC ENST00000418929.2 + 5 3998 c.3986delC c.(3985-3987)accfs p.T1329fs NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 508 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCCCCTGCCACCCCTGCTGTG 0.706 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085940 11085942 + RNA DEL CAC CAC - TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a242bd46-7a96-4495-9ccb-9f7340bc047e 65373707-5247-4eff-a355-d69d11526052 g.chr21:11085940_11085942delCAC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccaccaccatcaccaccaccacc 0.532 2 4 --- --- --- ---