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 ACMSD 130013 broad.mit.edu 37 2 135616917 135616917 + Nonsense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:135616917G>A ENST00000392928.1 + 4 361 c.65G>A c.(64-66)tGg>tAg p.W22* ACMSD_ENST00000356140.5_Missense_Mutation_p.M63I|AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_Nonsense_Mutation_p.W22* Q8TDX5 ACMSD_HUMAN aminocarboxymuconate semialdehyde decarboxylase 0 quinolinate metabolic process|tryptophan catabolic process cytosol aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding endometrium(3)|large_intestine(4)|lung(6)|skin(1) 14 BRCA - Breast invasive adenocarcinoma(221;0.115) TTAGAGAAATGGACCAAAAAG 0.423000 7 44 0 0 0.335167 0 0 ACVR1 90 broad.mit.edu 37 2 158634711 158634711 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:158634711G>A ENST00000263640.3 - 5 904 c.475C>T c.(475-477)Ccc>Tcc p.P159S ACVR1_ENST00000487456.1_5'UTR|ACVR1_ENST00000409283.2_Missense_Mutation_p.P159S|ACVR1_ENST00000434821.1_Missense_Mutation_p.P159S|ACVR1_ENST00000410057.2_Missense_Mutation_p.P159S NM_001105.4 NP_001096.1 Q04771 ACVR1_HUMAN activin A receptor, type I 159 BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 19 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) ACGTCTCGGGGATTGAGGCGT 0.493000 20 29 0 0 0.654019 0 0 TMEM230 29058 broad.mit.edu 37 20 5086941 5086941 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr20:5086941G>A ENST00000379286.2 - 4 535 c.115C>T c.(115-117)Cct>Tct p.P39S TMEM230_ENST00000379277.2_Missense_Mutation_p.P39S|TMEM230_ENST00000379283.2_Missense_Mutation_p.P39S|TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000342308.5_Missense_Mutation_p.P102S|TMEM230_ENST00000202834.7_Missense_Mutation_p.P39S|TMEM230_ENST00000379279.2_Missense_Mutation_p.P39S NM_001009924.1 NP_001009924.1 Q96A57 CT030_HUMAN transmembrane protein 230 39 integral to membrane GGGATCTTAGGAGGGGTTTTC 0.388000 18 15 0 0 0.575678 0 0 LAMA2 3908 broad.mit.edu 37 6 129634041 129634041 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:129634041C>T ENST00000421865.2 + 23 3259 c.3210C>T c.(3208-3210)ttC>ttT p.F1070F NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1070 Laminin EGF-like 12. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CCTTGGATTTCCAATGCAATG 0.403000 18 10 0 0 0.557998 0 0 MYEOV2 150678 broad.mit.edu 37 2 241075674 241075674 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:241075674G>A ENST00000307266.3 - 1 90 c.91C>T c.(91-93)Ccc>Tcc p.P31S MYEOV2_ENST00000607357.1_Missense_Mutation_p.P10S NM_138336.1 NP_612209.1 Q8WXC6 MYOV2_HUMAN myeloma overexpressed 2 10 breast(1)|lung(5)|pancreas(1) 7 all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143) GCGCCCTCGGGGAACATCTCG 0.736000 4 8 0 0 0.150653 0 0 POLR2D 5433 broad.mit.edu 37 2 128608250 128608250 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:128608250G>A ENST00000272645.4 - 3 320 c.264C>T c.(262-264)ctC>ctT p.L88L POLR2D_ENST00000409955.1_Intron|POLR2D_ENST00000409698.1_Silent_p.L50L|POLR2D_ENST00000487079.1_Intron NM_004805.3 NP_004796.1 O15514 RPB4_HUMAN polymerase (RNA) II (DNA directed) polypeptide D 88 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase activity|nucleotide binding large_intestine(1)|lung(4)|urinary_tract(1) 6 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0675) GCTTTTTCTGGAGtagcaagc 0.363000 27 31 0 0 0.681144 0 0 PSG6 5675 broad.mit.edu 37 19 43414732 43414732 + Splice_Site SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:43414732G>A ENST00000187910.2 - 3 771 c.706_splice c.e3+1 p.P236_splice PSG6_ENST00000402603.4_Splice_Site_p.H236_splice|PSG6_ENST00000292125.2_Splice_Site_p.P236_splice NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) AGATACTCACGGAGGAGATTC 0.527000 103 84 0 0 0.870114 0 0 COL4A6 1288 broad.mit.edu 37 X 107431170 107431170 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chrX:107431170G>A ENST00000334504.7 - 22 1908 c.1675C>T c.(1675-1677)Cgg>Tgg p.R559W COL4A6_ENST00000545689.1_Missense_Mutation_p.R559W|COL4A6_ENST00000394872.2_Missense_Mutation_p.R560W|COL4A6_ENST00000538570.1_Missense_Mutation_p.R559W|COL4A6_ENST00000372216.4_Missense_Mutation_p.R560W NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 560 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding p.R559W(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 GAATCACCCCGATCTCCTGGC 0.537000 Alport syndrome with Diffuse Leiomyomatosis 99 12 0 0 0.870114 0 0 INPPL1 3636 broad.mit.edu 37 11 71939791 71939791 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:71939791C>T ENST00000298229.2 + 4 622 c.418C>T c.(418-420)Ccg>Tcg p.P140S INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 140 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 TGAGAAGCCCCCGCTGCCCCC 0.652000 19 8 0 0 0.592651 0 0 PRKG1 5592 broad.mit.edu 37 10 54053573 54053573 + Silent SNP C C A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr10:54053573C>A ENST00000373980.4 + 18 2391 c.1974C>A c.(1972-1974)ccC>ccA p.P658P PRKG1_ENST00000373985.1_Silent_p.P631P|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Silent_p.P643P|PRKG1_ENST00000373975.2_Silent_p.P361P NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 643 AGC-kinase C-terminal. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TTGCATCACCCACAGACACAA 0.368000 11 25 9.31168e-06 9.60729e-06 0.435327 1 0 TRANK1 9881 broad.mit.edu 37 3 36874965 36874965 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:36874965C>T ENST00000301807.6 - 21 6224 c.4327G>A c.(4327-4329)Ggg>Agg p.G1443R TRANK1_ENST00000428977.2_Missense_Mutation_p.G1443R|TRANK1_ENST00000429976.2_Missense_Mutation_p.G1993R NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1993 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AGGATTACCCCTTGCAGGAAG 0.507000 3 16 0 0 0.115264 0 0 ARPP21 10777 broad.mit.edu 37 3 35758848 35758848 + Splice_Site SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:35758848C>T ENST00000187397.4 + 13 1450 c.995_splice c.e13+1 p.R332_splice ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000417925.1_Splice_Site_p.R298_splice|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000458225.1_Splice_Site_p.R298_splice NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 332 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 ACAGCTCTTTCGGTTGGTATG 0.303000 14 22 0 0 0.457914 0 0 CD163L1 283316 broad.mit.edu 37 12 7559289 7559289 + Missense_Mutation SNP A A C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:7559289A>C ENST00000313599.3 - 5 983 c.926T>G c.(925-927)cTt>cGt p.L309R CD163L1_ENST00000416109.2_Missense_Mutation_p.L319R|CD163L1_ENST00000396630.1_Missense_Mutation_p.L309R Q9NR16 C163B_HUMAN CD163 molecule-like 1 309 SRCR 3. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 AGCGAAGTGAAGTGCGGTTCC 0.507000 44 28 0 0 0.870114 0 0 STOML3 161003 broad.mit.edu 37 13 39542604 39542604 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr13:39542604C>T ENST00000379631.4 - 6 928 c.584G>A c.(583-585)cGg>cAg p.R195Q STOML3_ENST00000423210.1_Missense_Mutation_p.R186Q NM_145286.2 NP_660329.1 Q8TAV4 STML3_HUMAN stomatin (EPB72)-like 3 195 integral to membrane|plasma membrane breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 11 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) CACGGGAATCCGAACATCTTT 0.522000 28 39 0 0 0.729181 0 0 HTT 3064 broad.mit.edu 37 4 3210518 3210518 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr4:3210518C>T ENST00000355072.5 + 46 6316 c.6171C>T c.(6169-6171)tcC>tcT p.S2057S NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2057 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GGCTCTATTCCCTGCTGGACA 0.433000 9 11 0 0 0.335167 0 0 INSL4 3641 broad.mit.edu 37 9 5231701 5231701 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr9:5231701G>A ENST00000239316.4 + 1 283 c.178G>A c.(178-180)Gaa>Aaa p.E60K NM_002195.1 NP_002186.1 Q14641 INSL4_HUMAN insulin-like 4 (placenta) 60 cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction extracellular space|soluble fraction hormone activity|insulin-like growth factor receptor binding endometrium(2)|lung(2)|skin(1)|urinary_tract(1) 6 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14) GTGGCTGCTGGAATCTGGACG 0.522000 9 3 0 0 0.361761 0 0 SPEF2 79925 broad.mit.edu 37 5 35793359 35793359 + Missense_Mutation SNP G G T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:35793359G>T ENST00000440995.2 + 32 4638 c.4638G>T c.(4636-4638)gaG>gaT p.E1546D SPEF2_ENST00000356031.3_Missense_Mutation_p.E1551D|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.E348D Q9C093 SPEF2_HUMAN sperm flagellar 2 1551 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTCCCTTGGAGGAGGAGCTCC 0.478000 16 65 1.15088e-07 1.20011e-07 0.500413 1 0 MYH6 4624 broad.mit.edu 37 14 23862255 23862255 + Silent SNP G G A rs140314752 TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr14:23862255G>A ENST00000405093.3 - 24 3187 c.3117C>T c.(3115-3117)tcC>tcT p.S1039S MYH6_ENST00000356287.3_Silent_p.S1039S NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1039 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CTTGCTCTAGGGATCCCTCCA 0.498000 20 40 0 0 0.608945 0 0 RAD51D 5892 broad.mit.edu 37 17 33428002 33428002 + Silent SNP C C T rs147669627 TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr17:33428002C>T ENST00000345365.6 - 10 1212 c.957G>A c.(955-957)caG>caA p.Q319Q RAD51D_ENST00000590016.1_Silent_p.Q339Q|RAD51D_ENST00000460118.2_Silent_p.Q200Q|RAD51D_ENST00000335858.7_Silent_p.Q207Q|RAD51L3-RFFL_ENST00000593039.1_Intron|RAD51D_ENST00000360276.3_Silent_p.Q274Q|RAD51D_ENST00000394589.4_Silent_p.Q319Q|RAD51D_ENST00000590380.1_5'UTR NM_002878.3 NP_002869.3 O75771 RA51D_HUMAN RAD51 paralog D 319 DNA repair|reciprocal meiotic recombination nucleus ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding p.Q319H(1)|p.Q207H(1)|p.Q339H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 ATGTGGCACTCTGCTCTGAGG 0.527000 Direct reversal of damage 47 39 0 0 0.870114 0 0 LNX2 222484 broad.mit.edu 37 13 28130496 28130496 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr13:28130496G>A ENST00000316334.3 - 7 1552 c.1423C>T c.(1423-1425)Cca>Tca p.P475S NM_153371.3 NP_699202.1 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 475 PDZ 3. zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) GATTCATGTGGTTCCTTCTTT 0.438000 10 13 0 0 0.335167 0 0 HTT 3064 broad.mit.edu 37 4 3210517 3210517 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr4:3210517C>T ENST00000355072.5 + 46 6315 c.6170C>T c.(6169-6171)tCc>tTc p.S2057F NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 2057 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) AGGCTCTATTCCCTGCTGGAC 0.428000 9 11 0 0 0.335167 0 0 FIG4 9896 broad.mit.edu 37 6 110088053 110088053 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:110088053G>A ENST00000230124.3 + 15 1829 c.1705G>A c.(1705-1707)Gac>Aac p.D569N FIG4_ENST00000441478.2_Missense_Mutation_p.D292N NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 569 cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) GCACTCCAAAGACATCATGCA 0.388000 14 51 0 0 0.479597 0 0 KIAA2018 205717 broad.mit.edu 37 3 113373885 113373885 + Missense_Mutation SNP T T C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:113373885T>C ENST00000316407.4 - 7 7054 c.6644A>G c.(6643-6645)aAt>aGt p.N2215S KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.N2215S NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 2215 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 GGCAGAGGAATTTGCTATTGT 0.408000 7 30 0 0 0.278610 0 0 ANK3 288 broad.mit.edu 37 10 61831219 61831219 + Silent SNP T T C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr10:61831219T>C ENST00000280772.1 - 37 9611 c.9420A>G c.(9418-9420)caA>caG p.Q3140Q ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3140 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GAGAAGGAGGTTGCTTTTGCT 0.428000 25 39 0 0 0.654019 0 0 UBE3C 9690 broad.mit.edu 37 7 157060408 157060408 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:157060408C>T ENST00000348165.5 + 23 3571 c.3211C>T c.(3211-3213)Ctc>Ttc p.L1071F NM_014671.2 NP_055486.2 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 1071 HECT. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) AAGTAAACTTCTCTATGCGAT 0.567000 79 65 0 0 0.870114 0 0 NWD1 284434 broad.mit.edu 37 19 16908608 16908608 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:16908608G>A ENST00000524140.2 + 16 3788 c.3370G>A c.(3370-3372)Gat>Aat p.D1124N NWD1_ENST00000523826.1_Missense_Mutation_p.D918N|NWD1_ENST00000379808.3_Missense_Mutation_p.D1124N|NWD1_ENST00000339803.6_Missense_Mutation_p.D989N|NWD1_ENST00000552788.1_Missense_Mutation_p.D1124N|NWD1_ENST00000549814.1_Missense_Mutation_p.D1124N NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1124 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CATGGCCATGGATCTGGAACA 0.537000 88 81 0 0 0.870114 0 0 NT5C1B 93034 broad.mit.edu 37 2 18766202 18766202 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:18766202G>A ENST00000304081.4 - 4 401 c.301C>T c.(301-303)Cca>Tca p.P101S NT5C1B_ENST00000600945.1_Missense_Mutation_p.P161S|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.P161S|NT5C1B_ENST00000359846.2_Missense_Mutation_p.P161S NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) TGCAGGCTTGGGGAGGTGGAT 0.706000 4 6 0 0 0.184627 0 0 RAB2B 84932 broad.mit.edu 37 14 21931881 21931881 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr14:21931881G>A ENST00000397762.1 - 6 508 c.408C>T c.(406-408)gcC>gcT p.A136A RAB2B_ENST00000461909.1_5'UTR NM_001163380.1|NM_032846.3 NP_001156852.1|NP_116235.2 Q8WUD1 RAB2B_HUMAN RAB2B, member RAS oncogene family 136 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane|plasma membrane GTP binding NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 all_cancers(95;0.000858) Epithelial(56;1.53e-06)|all cancers(55;1.44e-05) GBM - Glioblastoma multiforme(265;0.00391) CCCTAGCAAAGGCCTCTCCTT 0.413000 22 51 0 0 0.667858 0 0 CDH18 1016 broad.mit.edu 37 5 19473754 19473754 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:19473754G>A ENST00000507958.1 - 15 2944 c.1954C>T c.(1954-1956)Cgg>Tgg p.R652W CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.R652W|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.R652W|CDH18_ENST00000506372.1_3'UTR Q13634 CAD18_HUMAN cadherin 18, type 2 652 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) ACGTTCTCCCGTACATCCTCT 0.478000 40 145 0 0 0.840704 0 0 CUX2 23316 broad.mit.edu 37 12 111776230 111776230 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:111776230C>T ENST00000261726.6 + 20 3491 c.3337C>T c.(3337-3339)Ccc>Tcc p.P1113S NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1113 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCTCAATGACCCCCATAACGT 0.587000 25 25 0 0 0.693898 0 0 ACAN 176 broad.mit.edu 37 15 89401973 89401973 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:89401973G>A ENST00000439576.2 + 12 6531 c.6157G>A c.(6157-6159)Gaa>Aaa p.E2053K ACAN_ENST00000559004.1_Missense_Mutation_p.E2053K|ACAN_ENST00000352105.7_Missense_Mutation_p.E2053K|ACAN_ENST00000561243.1_Missense_Mutation_p.E2053K NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2053 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TATTTCTCAGGAACTAGGCCA 0.517000 16 14 0 0 0.500413 0 0 MAGEH1 28986 broad.mit.edu 37 X 55479006 55479006 + Missense_Mutation SNP G G C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chrX:55479006G>C ENST00000342972.1 + 1 469 c.199G>C c.(199-201)Gaa>Caa p.E67Q NM_014061.3 NP_054780.2 Q9H213 MAGH1_HUMAN melanoma antigen family H, 1 67 MAGE. apoptosis central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2) 15 CACCCCTGAAGAAGCCTCGAG 0.587000 3 31 0 0 0.115264 0 0 STX17 55014 broad.mit.edu 37 9 102677597 102677597 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr9:102677597C>T ENST00000259400.6 + 2 212 c.76C>T c.(76-78)Cca>Tca p.P26S STX17_ENST00000534052.1_Missense_Mutation_p.P26S|STX17_ENST00000525640.1_Missense_Mutation_p.P26S|RP11-60I3.4_ENST00000524512.1_RNA NM_017919.2 NP_060389.2 P56962 STX17_HUMAN syntaxin 17 26 intracellular protein transport|vesicle-mediated transport endoplasmic reticulum|integral to membrane|nucleolus SNAP receptor activity endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) GATAGTAATCCCAACAGACCT 0.343000 20 5 0 0 0.557998 0 0 TIMELESS 8914 broad.mit.edu 37 12 56814624 56814624 + Nonsense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:56814624G>A ENST00000229201.4 - 25 3233 c.3079C>T c.(3079-3081)Cga>Tga p.R1027* TIMELESS_ENST00000554616.1_Nonsense_Mutation_p.R525*|TIMELESS_ENST00000553532.1_Nonsense_Mutation_p.R1028* NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 1028 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 TCAGCTGCTCGGATCAGGCAG 0.522000 14 44 0 0 0.520397 0 0 FIG4 9896 broad.mit.edu 37 6 110088051 110088051 + Missense_Mutation SNP A A G TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:110088051A>G ENST00000230124.3 + 15 1827 c.1703A>G c.(1702-1704)aAa>aGa p.K568R FIG4_ENST00000441478.2_Missense_Mutation_p.K291R NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 568 cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) CAGCACTCCAAAGACATCATG 0.393000 14 53 0 0 0.457914 0 0 DNAH1 25981 broad.mit.edu 37 3 52422547 52422547 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:52422547C>T ENST00000420323.2 + 58 9546 c.9285C>T c.(9283-9285)taC>taT p.Y3095Y NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 3095 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGGCTAAGTACCGGGAATGCA 0.607000 6 3 0 0 0.217242 0 0 MYO3B 140469 broad.mit.edu 37 2 171055894 171055894 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:171055894C>T ENST00000334231.6 + 2 206 c.206C>T c.(205-207)cCa>cTa p.P69L MYO3B_ENST00000409044.3_Missense_Mutation_p.P60L|MYO3B_ENST00000408978.4_Missense_Mutation_p.P60L|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 60 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 ATTCTGGATCCAGTCAGTGTA 0.368000 7 4 0 0 0.248553 0 0 LPPR2 64748 broad.mit.edu 37 19 11470537 11470537 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:11470537C>T ENST00000251473.5 + 5 672 c.296C>T c.(295-297)cCa>cTa p.P99L DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.P74L NM_001170635.1|NM_022737.2 NP_001164106.1|NP_073574.2 TTCCCTGCACCACCTTCAGCC 0.647000 11 21 0 0 0.387290 0 0 GPR116 221395 broad.mit.edu 37 6 46849211 46849211 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:46849211G>A ENST00000283296.7 - 8 1083 c.795C>T c.(793-795)tcC>tcT p.S265S GPR116_ENST00000456426.2_Silent_p.S265S|GPR116_ENST00000362015.4_Silent_p.S265S|GPR116_ENST00000265417.7_Silent_p.S265S NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 265 SEA. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) CTGCTTGAAAGGAGTTGTAGT 0.353000 29 45 0 0 0.750413 0 0 PTCD3 55037 broad.mit.edu 37 2 86344203 86344203 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:86344203C>T ENST00000254630.7 + 6 401 c.335C>T c.(334-336)tCc>tTc p.S112F PTCD3_ENST00000409277.3_Missense_Mutation_p.S112F|PTCD3_ENST00000465560.1_3'UTR NM_017952.5 NP_060422.4 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 112 mitochondrion protein binding NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 22 GCAAAGAAATCCGGGGAGAAT 0.328000 4 12 0 0 0.150653 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50660946 50660946 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr22:50660946G>A ENST00000439308.2 - 14 2838 c.2346C>T c.(2344-2346)atC>atT p.I782I TUBGCP6_ENST00000248846.5_Silent_p.I782I|TUBGCP6_ENST00000491449.1_5'UTR NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 782 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GGTGCCTCTGGATTCTCCACA 0.562000 13 23 0 0 0.411799 0 0 ATP8B4 79895 broad.mit.edu 37 15 50152518 50152518 + Missense_Mutation SNP T T A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:50152518T>A ENST00000284509.6 - 28 3593 c.3452A>T c.(3451-3453)aAa>aTa p.K1151I ATP8B4_ENST00000559829.1_Missense_Mutation_p.K1151I NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 1151 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) GGGTGGATTTTTAGCTCGCAT 0.448000 19 59 0 0 0.539581 0 0 CHRNG 1146 broad.mit.edu 37 2 233409127 233409127 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:233409127G>A ENST00000389494.3 + 10 1107 c.1086G>A c.(1084-1086)ctG>ctA p.L362L CHRNG_ENST00000389492.3_Silent_p.L310L NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 362 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) TTCGCCCGCTGGCCCCGGCAG 0.652000 32 81 0 0 0.769981 0 0 ZNF564 163050 broad.mit.edu 37 19 12638475 12638475 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:12638475G>A ENST00000339282.7 - 4 643 c.447C>T c.(445-447)gcC>gcT p.A149A ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR NM_144976.3 NP_659413.1 zinc finger protein 564 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 AAGAACTGAAGGCTTTCCCAC 0.433000 18 22 0 0 0.539581 0 0 LRGUK 136332 broad.mit.edu 37 7 133943150 133943150 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:133943150C>T ENST00000285928.2 + 19 2409 c.2340C>T c.(2338-2340)acC>acT p.T780T NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 780 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 CCGAAGAGACCCGGAAAGGTA 0.562000 20 22 0 0 0.557998 0 0 KRT3 3850 broad.mit.edu 37 12 53189266 53189266 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:53189266G>A ENST00000417996.2 - 1 635 c.561C>T c.(559-561)atC>atT p.I187I KRT3_ENST00000309505.3_Silent_p.I187I NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 187 Head. I -> T (in Ref. 1; CAA28991). epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 TCTGGGGGTCGATCTCCACAT 0.542000 22 26 0 0 0.624587 0 0 DNAH17 8632 broad.mit.edu 37 17 76533472 76533472 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr17:76533472C>T ENST00000389840.5 - 19 2892 c.2768G>A c.(2767-2769)gGc>gAc p.G923D DNAH17_ENST00000585328.1_Missense_Mutation_p.G920D dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGCCAGGAAGCCGCGATCTGA 0.587000 4 4 0 0 0.217242 0 0 IARS2 55699 broad.mit.edu 37 1 220275523 220275523 + Silent SNP T T C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:220275523T>C ENST00000366922.1 + 4 718 c.387T>C c.(385-387)cgT>cgC p.R129R IARS2_ENST00000302637.5_Silent_p.R201R Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 201 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) CATTTATTCGTTGGGGAATAA 0.313000 16 40 0 0 0.557998 0 0 PTPRB 5787 broad.mit.edu 37 12 71016398 71016398 + Missense_Mutation SNP C C A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:71016398C>A ENST00000334414.6 - 3 524 c.480G>T c.(478-480)agG>agT p.R160S PTPRB_ENST00000551525.1_Missense_Mutation_p.R159S|PTPRB_ENST00000550358.1_Missense_Mutation_p.R160S|PTPRB_ENST00000538174.2_5'UTR NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 2. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TTCTAGTGCTCCTCACCGAAA 0.413000 6 4 0.00198382 0.00203602 0.248553 1 0 ZC3H14 79882 broad.mit.edu 37 14 89061145 89061145 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr14:89061145C>T ENST00000555900.1 + 1 387 c.75C>T c.(73-75)tcC>tcT p.S25S ZC3H14_ENST00000406216.3_Silent_p.S25S|ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000318308.6_Silent_p.S25S|ZC3H14_ENST00000251038.5_Intron Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 0 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 ACTTAGGTTCCATAACAAGCT 0.393000 34 43 0 0 0.796494 0 0 NEK1 4750 broad.mit.edu 37 4 170327855 170327855 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr4:170327855C>T ENST00000439128.2 - 30 3822 c.3182G>A c.(3181-3183)aGa>aAa p.R1061K NEK1_ENST00000512193.1_Missense_Mutation_p.R992K|NEK1_ENST00000511633.1_Missense_Mutation_p.R1045K|NEK1_ENST00000507142.1_Missense_Mutation_p.R1089K|NEK1_ENST00000510533.1_Missense_Mutation_p.R1017K NM_012224.2 NP_036356.1 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 1061 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) CATAAGGGTTCTGAACAGCTT 0.318000 23 29 0 0 0.717897 0 0 SHF 90525 broad.mit.edu 37 15 45464403 45464403 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:45464403C>T ENST00000290894.8 - 6 1401 c.907G>A c.(907-909)Gag>Aag p.E303K SHF_ENST00000560540.1_Missense_Mutation_p.E321K|SHF_ENST00000560734.1_Intron|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000560471.1_Missense_Mutation_p.E368K|SHF_ENST00000458022.2_Missense_Mutation_p.E119K|SHF_ENST00000318390.6_Missense_Mutation_p.E313K NM_138356.2 NP_612365.2 B3KTY1 B3KTY1_HUMAN Src homology 2 domain containing F 303 endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2) 12 all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06) CTGCTGGGCTCCATGCTTAGG 0.642000 23 40 0 0 0.667858 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110376846 110376846 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr8:110376846G>A ENST00000378402.5 + 2 248 c.144G>A c.(142-144)agG>agA p.R48R NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 48 IPT/TIG 1. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GAGCAACAAGGCTGACTATAA 0.328000 HNSCC(38;0.096) 5 6 0 0 0.184627 0 0 OR2B11 127623 broad.mit.edu 37 1 247615087 247615087 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:247615087G>A ENST00000318749.6 - 1 221 c.198C>T c.(196-198)ttC>ttT p.F66F NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GGTGACTGAGGAAGATGTACA 0.572000 18 73 0 0 0.608945 0 0 SIM1 6492 broad.mit.edu 37 6 100897319 100897319 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:100897319C>T ENST00000369208.3 - 6 1245 c.463G>A c.(463-465)Gag>Aag p.E155K SIM1_ENST00000262901.4_Missense_Mutation_p.E155K P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 155 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CGCTCGATCTCATACTCTGGG 0.592000 15 16 0 0 0.500413 0 0 CYP46A1 10858 broad.mit.edu 37 14 100157478 100157478 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr14:100157478C>T ENST00000261835.3 + 2 284 c.180C>T c.(178-180)ctC>ctT p.L60L CYP46A1_ENST00000423126.2_5'UTR NM_006668.1 NP_006659.1 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46, subfamily A, polypeptide 1 60 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) GCCGTGTGCTCCAAGATGTGT 0.502000 28 51 0 0 0.750413 0 0 TET1 80312 broad.mit.edu 37 10 70406332 70406332 + Silent SNP T T C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr10:70406332T>C ENST00000373644.4 + 4 4055 c.3846T>C c.(3844-3846)taT>taC p.Y1282Y NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1282 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 ATAAAGCTTATAATTCTCAGG 0.458000 6 39 0 0 0.248553 0 0 SLC52A3 113278 broad.mit.edu 37 20 744419 744419 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr20:744419G>A ENST00000381944.3 - 3 1037 c.796C>T c.(796-798)Cgg>Tgg p.R266W SLC52A3_ENST00000217254.7_Missense_Mutation_p.R266W|SLC52A3_ENST00000473664.1_Intron Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 266 sensory perception of sound integral to plasma membrane riboflavin transporter activity TCCCGCGGCCGGATGGAGTGG 0.647000 22 29 0 0 0.624587 0 0 USP40 55230 broad.mit.edu 37 2 234434202 234434202 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:234434202C>T ENST00000251722.6 - 14 1846 c.1729G>A c.(1729-1731)Gaa>Aaa p.E577K USP40_ENST00000427112.2_Missense_Mutation_p.E577K|USP40_ENST00000450966.1_Missense_Mutation_p.E589K Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 577 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) TCCCAAAATTCTAACAGCTGA 0.368000 28 18 0 0 0.717897 0 0 HLCS 3141 broad.mit.edu 37 21 38269242 38269242 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr21:38269242G>A ENST00000399120.1 - 7 2599 c.1369C>T c.(1369-1371)Cgc>Tgc p.R457C HLCS_ENST00000336648.3_Missense_Mutation_p.R457C|HLCS_ENST00000482273.1_5'UTR NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 457 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) AGATTTTGGCGATAGATCTCT 0.468000 10 35 0 0 0.335167 0 0 GPR112 139378 broad.mit.edu 37 X 135494509 135494509 + Silent SNP A A C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chrX:135494509A>C ENST00000394143.1 + 24 9312 c.9021A>C c.(9019-9021)cgA>cgC p.R3007R GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Silent_p.R2802R|GPR112_ENST00000370652.1_Silent_p.R3007R|GPR112_ENST00000412101.1_Silent_p.R2802R NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 3007 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GGTGGTTGCGATTGGATAACT 0.403000 36 2 0 0 0.788014 0 0 TIMELESS 8914 broad.mit.edu 37 12 56814625 56814625 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:56814625G>A ENST00000229201.4 - 25 3232 c.3078C>T c.(3076-3078)atC>atT p.I1026I TIMELESS_ENST00000554616.1_Silent_p.I524I|TIMELESS_ENST00000553532.1_Silent_p.I1027I NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 1027 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 CAGCTGCTCGGATCAGGCAGT 0.527000 14 44 0 0 0.520397 0 0 CPAMD8 27151 broad.mit.edu 37 19 17025308 17025308 + Splice_Site SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:17025308C>T ENST00000443236.1 - 29 3959 c.3927_splice c.e29-1 p.G1310_splice NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1263 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 TGGATCCCACCCTGCAAGGGG 0.612000 18 18 0 0 0.539581 0 0 SLC34A2 10568 broad.mit.edu 37 4 25676182 25676182 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr4:25676182C>T ENST00000382051.3 + 12 1439 c.1389C>T c.(1387-1389)atC>atT p.I463I SLC34A2_ENST00000503434.1_Silent_p.I462I|SLC34A2_ENST00000504570.1_Silent_p.I462I NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 463 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) GCTCCAACATCGGCACCACCA 0.592000 T ROS1 NSCLC 19 64 0 0 0.557998 0 0 CPD 1362 broad.mit.edu 37 17 28789002 28789002 + Silent SNP T T G TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr17:28789002T>G ENST00000225719.4 + 19 3814 c.3738T>G c.(3736-3738)ggT>ggG p.G1246G CPD_ENST00000543464.2_Silent_p.G999G NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 1246 Carboxypeptidase-like 3. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 AAGAGGGAGGTTATTTCCATG 0.393000 20 10 0 0 0.557998 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147027949 147027949 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:147027949C>T ENST00000265272.5 - 5 1393 c.926G>A c.(925-927)cGa>cAa p.R309Q JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R309Q|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R267Q NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 309 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGTTCATTTCGTTCATCTCC 0.303000 17 46 0 0 0.520397 0 0 PWP1 11137 broad.mit.edu 37 12 108090340 108090340 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:108090340C>T ENST00000412830.3 + 6 760 c.592C>T c.(592-594)Cct>Tct p.P198S PWP1_ENST00000541166.1_Missense_Mutation_p.P136S NM_007062.1 NP_008993.1 Q13610 PWP1_HUMAN PWP1 homolog (S. cerevisiae) 198 transcription, DNA-dependent nucleus breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1) 23 GAATTTTGATCCTAGCCCAGA 0.333000 19 31 0 0 0.575678 0 0 MIS18BP1 55320 broad.mit.edu 37 14 45687484 45687484 + Splice_Site SNP C C A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr14:45687484C>A ENST00000310806.4 - 12 3301 c.e12+1 NM_018353.4 NP_060823.3 Q6P0N0 M18BP_HUMAN MIS18 binding protein 1 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 39 ACGAAGGTTACCATTTTGGCC 0.353000 38 65 1.32136e-16 1.38529e-16 0.840704 1 0 HERC2P3 283755 broad.mit.edu 37 15 20588496 20588496 + RNA SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:20588496C>T ENST00000428453.1 - 0 4254 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ATCAACACTTCCCTAGGGAAA 0.493000 8 6 0 0 0.278610 0 0 RHAG 6005 broad.mit.edu 37 6 49604381 49604381 + Missense_Mutation SNP C C T rs141969178 TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:49604381C>T ENST00000371175.4 - 1 171 c.145G>A c.(145-147)Gag>Aag p.E49K RHAG_ENST00000229810.7_Missense_Mutation_p.E49K NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 49 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) GGATATAACTCAAAGAATATG 0.368000 38 53 0 0 0.840704 0 0 EFCAB11 90141 broad.mit.edu 37 14 90263603 90263603 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr14:90263603C>T ENST00000316738.7 - 6 504 c.476G>A c.(475-477)gGa>gAa p.G159E EFCAB11_ENST00000556609.1_Missense_Mutation_p.G111E|RP11-33N16.3_ENST00000555070.1_RNA|EFCAB11_ENST00000555872.1_Missense_Mutation_p.G135E NM_145231.2 NP_660274.1 Q9BUY7 EFC11_HUMAN EF-hand calcium binding domain 11 159 EF-hand 3. calcium ion binding large_intestine(1)|lung(1) 2 TTCCTTCTGTCCATAGTTCAG 0.388000 8 38 0 0 0.278610 0 0 OR9K2 441639 broad.mit.edu 37 12 55524316 55524316 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:55524316C>T ENST00000305377.5 + 1 852 c.764C>T c.(763-765)tCt>tTt p.S255F NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 AAGATACATTCTACTGAGGGA 0.383000 8 47 0 0 0.278610 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86548562 86548562 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:86548562G>A ENST00000450689.2 - 11 1649 c.1464C>T c.(1462-1464)atC>atT p.I488I KIAA1324L_ENST00000444627.1_Silent_p.I488I|KIAA1324L_ENST00000297222.6_Silent_p.I248I|KIAA1324L_ENST00000490995.1_5'UTR|KIAA1324L_ENST00000416314.1_Silent_p.I321I NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 488 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) GCAAGTTTAAGATCAGGTAAT 0.363000 16 26 0 0 0.624587 0 0 PARD3 56288 broad.mit.edu 37 10 34663808 34663808 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr10:34663808C>T ENST00000374789.3 - 11 1987 c.1662G>A c.(1660-1662)agG>agA p.R554R PARD3_ENST00000340077.5_Silent_p.R554R|PARD3_ENST00000544292.1_Silent_p.R284R|PARD3_ENST00000374773.1_Silent_p.R554R|PARD3_ENST00000374776.1_Silent_p.R554R|PARD3_ENST00000346874.4_Silent_p.R554R|PARD3_ENST00000545693.1_Silent_p.R554R|PARD3_ENST00000545260.1_Silent_p.R510R|PARD3_ENST00000350537.4_Silent_p.R554R|PARD3_ENST00000374794.3_Silent_p.R510R|PARD3_ENST00000374788.3_Silent_p.R554R|PARD3_ENST00000374790.3_Silent_p.R510R NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 554 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) ACACCAGTTCCCTTGGGTGGA 0.463000 37 78 0 0 0.812448 0 0 RPAP1 26015 broad.mit.edu 37 15 41819403 41819403 + Missense_Mutation SNP T T C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:41819403T>C ENST00000304330.4 - 13 1824 c.1708A>G c.(1708-1710)Atc>Gtc p.I570V RPAP1_ENST00000561603.1_Missense_Mutation_p.I570V NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 570 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCCAGGCGGATGAGCACAGCC 0.617000 17 13 0 0 0.557998 0 0 NUTM1 256646 broad.mit.edu 37 15 34649344 34649344 + Silent SNP C C T rs7163178 TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:34649344C>T ENST00000537011.1 + 8 3517 c.3135C>T c.(3133-3135)ctC>ctT p.L1045L NUTM1_ENST00000333756.4_Silent_p.L1017L|NUTM1_ENST00000438749.3_Silent_p.L1035L NUT midline carcinoma, family member 1 ATGAGGAACTCTCCAACTTTG 0.502000 10 26 0 0 0.361761 0 0 FAM86HP 729375 broad.mit.edu 37 3 129821661 129821661 + RNA SNP T T C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:129821661T>C ENST00000500074.2 - 0 484 GTAAAGGCCATGTAGACCTCA 0.667000 8 46 0 0 0.411799 0 0 NKAIN3 286183 broad.mit.edu 37 8 63659653 63659653 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr8:63659653G>A ENST00000523211.1 + 4 568 c.436G>A c.(436-438)Gag>Aag p.E146K NKAIN3_ENST00000328472.5_Missense_Mutation_p.E146K|NKAIN3_ENST00000519049.1_3'UTR NM_173688.2 NP_775959.1 Q8N8D7 NKAI3_HUMAN Na+/K+ transporting ATPase interacting 3 146 integral to membrane|plasma membrane kidney(3)|large_intestine(2)|lung(8) 13 Breast(64;0.127) Lung NSC(129;0.187) CCAGTACCTGGAGGTCATCCA 0.468000 22 16 0 0 0.624587 0 0 NPSR1 387129 broad.mit.edu 37 7 34698043 34698043 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:34698043G>A ENST00000360581.1 + 1 147 c.19G>A c.(19-21)Gag>Aag p.E7K NPSR1_ENST00000359791.1_Missense_Mutation_p.E7K|AC005493.1_ENST00000399077.1_Intron|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000531252.1_Missense_Mutation_p.E7K|NPSR1_ENST00000381539.3_Missense_Mutation_p.E7K|NPSR1_ENST00000381542.1_Missense_Mutation_p.E7K|NPSR1_ENST00000465305.1_Missense_Mutation_p.E7K|NPSR1_ENST00000381553.3_Missense_Mutation_p.E7K NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 7 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CAACTTCACAGAGGGCAGCTT 0.582000 27 34 0 0 0.706142 0 0 KCNT2 343450 broad.mit.edu 37 1 196309582 196309582 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:196309582C>T ENST00000367433.5 - 16 1773 c.1672G>A c.(1672-1674)Gaa>Aaa p.E558K KCNT2_ENST00000294725.8_Missense_Mutation_p.E558K|KCNT2_ENST00000451324.2_Missense_Mutation_p.E169K|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.E508K Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 558 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GAATTCTCTTCTTTGGTAATA 0.353000 8 31 0 0 0.307466 0 0 DCLK3 85443 broad.mit.edu 37 3 36759615 36759615 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:36759615G>A ENST00000416516.2 - 4 2129 c.1639C>T c.(1639-1641)Ctg>Ttg p.L547L DCLK3_ENST00000498047.1_5'UTR NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 547 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 AAGCCACACAGCAGGATATAG 0.577000 39 52 0 0 0.853193 0 0 TGM6 343641 broad.mit.edu 37 20 2411160 2411160 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr20:2411160C>T ENST00000202625.2 + 11 1808 c.1747C>T c.(1747-1749)Ctg>Ttg p.L583L TGM6_ENST00000381423.1_Silent_p.L583L NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 583 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) CAAGAAGATCCTGTTGGCTGC 0.473000 23 23 0 0 0.608945 0 0 ANKH 56172 broad.mit.edu 37 5 14758614 14758614 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:14758614G>A ENST00000284268.6 - 3 737 c.407C>T c.(406-408)gCc>gTc p.A136V NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 136 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 AGGAAAGGCGGCGAGGTACAG 0.418000 9 21 0 0 0.335167 0 0 GPR123 84435 broad.mit.edu 37 10 134909255 134909255 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr10:134909255G>A ENST00000607359.1 + 11 2134 c.2134G>A c.(2134-2136)Ggc>Agc p.G712S GPR123_ENST00000392607.3_Intron Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GGAGCTCTCGGGCCCGCTGGC 0.657000 4 11 0 0 0.150653 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 33 38 0 0 0.769981 0 0 MAGI2 9863 broad.mit.edu 37 7 77708388 77708388 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:77708388G>A ENST00000354212.4 - 21 3835 c.3582C>T c.(3580-3582)atC>atT p.I1194I MAGI2_ENST00000522391.1_Silent_p.I1194I|MAGI2_ENST00000419488.1_Silent_p.I1180I NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1194 PDZ 6. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TGATTTCAATGATTTGATCTC 0.393000 76 115 0 0 0.870114 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962141 73962141 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chrX:73962141C>T ENST00000373468.1 - 3 2902 c.2251G>A c.(2251-2253)Gaa>Aaa p.E751K KIAA2022_ENST00000055682.5_Missense_Mutation_p.E751K Q5QGS0 K2022_HUMAN KIAA2022 751 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GATTGGTTTTCCAAGAGAGGG 0.378000 45 5 0 0 0.847076 0 0 BAD 572 broad.mit.edu 37 11 64037604 64037604 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:64037604G>A ENST00000544785.1 - 2 393 c.393C>T c.(391-393)ttC>ttT p.F131F BAD_ENST00000394532.3_3'UTR|BAD_ENST00000309032.3_3'UTR Q92934 BAD_HUMAN BCL2-associated agonist of cell death 0 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 AGGCCTGAGGGAAGTACTTCC 0.602000 5 20 0 0 0.184627 0 0 CHRDL2 25884 broad.mit.edu 37 11 74415556 74415556 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:74415556G>A ENST00000376332.3 - 7 1222 c.726C>T c.(724-726)atC>atT p.I242I CHRDL2_ENST00000263671.5_Silent_p.I242I|CHRDL2_ENST00000534159.1_5'UTR NM_001278473.1 NP_001265402.1 Q6WN34 CRDL2_HUMAN chordin-like 2 242 cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) CCTTCAGGACGATCTTGACAG 0.637000 14 37 0 0 0.457914 0 0 SYT10 341359 broad.mit.edu 37 12 33579303 33579303 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:33579303G>A ENST00000228567.3 - 2 575 c.279C>T c.(277-279)atC>atT p.I93I SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 93 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GAAGCGTAGTGATGTTGGAAG 0.423000 13 18 0 0 0.435327 0 0 PLXNA4 91584 broad.mit.edu 37 7 131866242 131866242 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:131866242G>A ENST00000359827.3 - 18 4352 c.3390C>T c.(3388-3390)atC>atT p.I1130I PLXNA4_ENST00000321063.4_Silent_p.I1130I Q9HCM2 PLXA4_HUMAN plexin A4 1130 IPT/TIG 3. 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 TCTTGTTGAGGATGAGCAGGG 0.592000 51 87 0 0 0.870114 0 0 BRF1 2972 broad.mit.edu 37 14 105677571 105677571 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr14:105677571C>T ENST00000546474.1 - 17 16843 c.1884G>A c.(1882-1884)ctG>ctA p.L628L BRF1_ENST00000379932.4_Intron|BRF1_ENST00000379937.2_Silent_p.L601L|BRF1_ENST00000327359.3_Silent_p.L513L|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000547530.1_Silent_p.L154L|BRF1_ENST00000446501.2_Silent_p.L390L|BRF1_ENST00000440513.3_Silent_p.L535L|BRF1_ENST00000392557.4_Silent_p.L424L NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 628 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) CGCTCTCCACCAGCACCGCCT 0.672000 42 40 0 0 0.840704 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559978 140559978 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:140559978C>T ENST00000239444.2 + 1 2608 c.2363C>T c.(2362-2364)tCt>tTt p.S788F NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 788 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAACAAAACTCTAACTTTAGG 0.368000 14 37 0 0 0.457914 0 0 FAM66D 100132923 broad.mit.edu 37 8 11985905 11985905 + RNA SNP C C G TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr8:11985905C>G ENST00000434078.2 + 0 608 NR_027425.1 TGCATGTCAACGCACTCAGGA 0.483000 3 33 0 0 0.115264 0 0 FARSA 2193 broad.mit.edu 37 19 13041108 13041108 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:13041108C>T ENST00000588025.1 - 5 692 c.552G>A c.(550-552)cgG>cgA p.R184R FARSA_ENST00000314606.4_Silent_p.R144R|FARSA_ENST00000423140.2_Silent_p.R144R Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 144 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 20 L-Phenylalanine(DB00120) CCTGTCCCCCCCGGACCAGCT 0.652000 36 13 0 0 0.769981 0 0 GRIK1 2897 broad.mit.edu 37 21 30927444 30927444 + Missense_Mutation SNP G G T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr21:30927444G>T ENST00000399914.1 - 15 3012 c.2491C>A c.(2491-2493)Ctg>Atg p.L831M GRIK1_ENST00000399909.1_Missense_Mutation_p.L831M|GRIK1_ENST00000389124.2_Missense_Mutation_p.L846M|GRIK1_ENST00000309434.7_Missense_Mutation_p.L848M|GRIK1_ENST00000327783.4_Missense_Mutation_p.L846M|GRIK1_ENST00000399907.1_Missense_Mutation_p.L846M|GRIK1_ENST00000535441.1_Missense_Mutation_p.L848M|GRIK1_ENST00000399913.1_Missense_Mutation_p.L846M|GRIK1_ENST00000389125.3_Missense_Mutation_p.L831M P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 846 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GAAAGGACCAGTCCGGCAGCC 0.463000 10 71 7.48243e-07 7.76103e-07 0.335167 1 0 C15orf54 400360 broad.mit.edu 37 15 39544719 39544719 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:39544719G>A ENST00000318578.3 + 2 751 c.383G>A c.(382-384)gGg>gAg p.G128E RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.G128E|RP11-624L4.1_ENST00000561058.1_RNA NM_207445.2 NP_997328.1 Q8N8G6 CO054_HUMAN chromosome 15 open reading frame 54 128 NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2) 5 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) CAGTCTCCTGGGTGGAAGAAC 0.468000 27 71 0 0 0.706142 0 0 TUBA4B 80086 broad.mit.edu 37 2 220136823 220136823 + RNA SNP A A T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:220136823A>T ENST00000490341.1 + 0 1293 NR_003063.1 GTGGGCATGGATAGTGTGGAG 0.517000 3 7 0 0 0.115264 0 0 GPRC5C 55890 broad.mit.edu 37 17 72436813 72436813 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr17:72436813G>A ENST00000392627.1 + 2 2159 c.1033G>A c.(1033-1035)Gtc>Atc p.V345I GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000392629.2_Missense_Mutation_p.V312I|GPRC5C_ENST00000342648.5_Intron NM_022036.2 NP_071319.2 Q9NQ84 GPC5C_HUMAN G protein-coupled receptor, family C, group 5, member C 300 cytoplasmic vesicle membrane|integral to plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 17 CATCCCCGAGGTCTCCCAGGT 0.627000 36 35 0 0 0.788014 0 0 SLC25A53 401612 broad.mit.edu 37 X 103349514 103349514 + Nonsense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chrX:103349514G>A ENST00000357421.4 - 2 607 c.427C>T c.(427-429)Cag>Tag p.Q143* NM_001012755.3 NP_001012773.2 Q5H9E4 MCAR6_HUMAN solute carrier family 25, member 53 143 transport integral to membrane|mitochondrial inner membrane CGACCATCCTGGAGCACATTT 0.597000 105 10 0 0 0.870114 0 0 RLTPR 146206 broad.mit.edu 37 16 67685655 67685655 + Nonsense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr16:67685655G>A ENST00000334583.6 + 25 2823 c.2495G>A c.(2494-2496)tGg>tAg p.W832* RLTPR_ENST00000545661.1_Nonsense_Mutation_p.W796* NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 832 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GGATCCAGCTGGAGGGAGCAG 0.612000 7 2 0 0 0.248553 0 0 CR1 1378 broad.mit.edu 37 1 207803916 207803916 + Silent SNP A A C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:207803916A>C ENST00000367049.4 + 46 7407 c.7407A>C c.(7405-7407)ggA>ggC p.G2469G CR1_ENST00000367053.1_Silent_p.G2019G|CR1_ENST00000367051.1_Silent_p.G2019G|CR1_ENST00000367052.1_Silent_p.G2019G|CR1_ENST00000400960.2_Silent_p.G2019G NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 2019 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 ATTCTCAAGGAGGCAGCAGCG 0.343000 4 16 0 0 0.248553 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130275831 130275831 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:130275831C>T ENST00000257359.6 - 9 2998 c.2292G>A c.(2290-2292)ctG>ctA p.L764L NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 764 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CGCTGTACTTCAGGATGGTCC 0.617000 43 29 0 0 0.840704 0 0 LIMCH1 22998 broad.mit.edu 37 4 41648871 41648871 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr4:41648871C>T ENST00000313860.7 + 12 1680 c.1626C>T c.(1624-1626)tcC>tcT p.S542S LIMCH1_ENST00000509277.1_Silent_p.S376S|LIMCH1_ENST00000512946.1_Silent_p.S542S|LIMCH1_ENST00000381753.4_Silent_p.S376S|LIMCH1_ENST00000513024.1_Silent_p.S371S|LIMCH1_ENST00000396595.3_Silent_p.S388S|LIMCH1_ENST00000512632.1_Silent_p.S542S|LIMCH1_ENST00000508501.1_Silent_p.S542S|LIMCH1_ENST00000503057.1_Silent_p.S927S|LIMCH1_ENST00000511496.1_Silent_p.S383S|LIMCH1_ENST00000514096.1_Silent_p.S383S|LIMCH1_ENST00000512820.1_Silent_p.S530S NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 542 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 AGCCTTACTCCCAGCCCAAAA 0.488000 37 45 0 0 0.819951 0 0 SHF 90525 broad.mit.edu 37 15 45470424 45470424 + Silent SNP T T G TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:45470424T>G ENST00000290894.8 - 3 878 c.384A>C c.(382-384)ccA>ccC p.P128P SHF_ENST00000560540.1_Silent_p.P193P|SHF_ENST00000561091.1_5'UTR|SHF_ENST00000560734.1_Silent_p.P193P|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000560471.1_Silent_p.P193P|SHF_ENST00000458022.2_5'UTR|SHF_ENST00000318390.6_Silent_p.P185P NM_138356.2 NP_612365.2 B3KTY1 B3KTY1_HUMAN Src homology 2 domain containing F 128 endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2) 12 all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06) GGACCTTCTCTGGGGCTCCTG 0.567000 9 36 0 0 0.361761 0 0 NLN 57486 broad.mit.edu 37 5 65058797 65058797 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:65058797C>T ENST00000380985.5 + 3 490 c.312C>T c.(310-312)acC>acT p.T104T NLN_ENST00000502464.1_5'UTR NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 104 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) TGGAAAGGACCATGCTAGACT 0.413000 16 35 0 0 0.500413 0 0 MKI67 4288 broad.mit.edu 37 10 129907335 129907335 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr10:129907335C>T ENST00000368654.3 - 13 3144 c.2769G>A c.(2767-2769)aaG>aaA p.K923K MKI67_ENST00000368653.3_Silent_p.K563K NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 923 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TTTCTATTTCCTTCATCTCTC 0.348000 24 31 0 0 0.654019 0 0 CDH10 1008 broad.mit.edu 37 5 24491860 24491860 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:24491860C>T ENST00000264463.4 - 11 2208 c.1701G>A c.(1699-1701)gtG>gtA p.V567V CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 567 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TGTCTGATATCACCACAGGCA 0.398000 HNSCC(23;0.051) 23 17 0 0 0.639603 0 0 CD300A 11314 broad.mit.edu 37 17 72469802 72469802 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr17:72469802C>T ENST00000360141.3 + 2 456 c.168C>T c.(166-168)ttC>ttT p.F56F CD300A_ENST00000310828.5_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 56 Ig-like V-type. cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 CACAGATTTTCCTATGTGACA 0.557000 14 64 0 0 0.435327 0 0 GALNT8 26290 broad.mit.edu 37 12 4848450 4848450 + Nonsense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:4848450C>T ENST00000252318.2 + 3 968 c.631C>T c.(631-633)Cga>Tga p.R211* RP11-234B24.6_ENST00000544741.2_3'UTR NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 211 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 GACGCCCTCTCGATTGTTGAA 0.428000 23 31 0 0 0.654019 0 0 COL5A3 50509 broad.mit.edu 37 19 10100153 10100153 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:10100153C>T ENST00000264828.3 - 25 2123 c.2038G>A c.(2038-2040)Ggc>Agc p.G680S NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 680 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) ACCAGAGGGCCATCGGATCCT 0.547000 9 14 0 0 0.335167 0 0 SH3TC1 54436 broad.mit.edu 37 4 8228944 8228944 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr4:8228944C>T ENST00000539824.1 + 12 1669 c.1295C>T c.(1294-1296)gCc>gTc p.A432V SH3TC1_ENST00000245105.3_Missense_Mutation_p.A508V|SH3TC1_ENST00000514274.1_3'UTR Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 508 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 TTCCTGAACGCCCCTGGGTAC 0.647000 5 6 0 0 0.184627 0 0 FAM86FP 653113 broad.mit.edu 37 12 8386973 8386973 + RNA SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:8386973C>T ENST00000427893.2 - 0 793 AGCCAGCCTCCGCAGGACCCC 0.592000 4 42 0 0 0.150653 0 0 SCAF4 57466 broad.mit.edu 37 21 33064136 33064136 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr21:33064136G>A ENST00000286835.7 - 14 2104 c.1722C>T c.(1720-1722)tcC>tcT p.S574S SCAF4_ENST00000434667.3_Silent_p.S559S|SCAF4_ENST00000399804.1_Silent_p.S574S NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 574 RRM. nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GTACCTTTATGGATTTCTGGT 0.373000 14 38 0 0 0.479597 0 0 GBP6 163351 broad.mit.edu 37 1 89849796 89849796 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:89849796G>A ENST00000370456.4 + 10 1706 c.1613G>A c.(1612-1614)aGa>aAa p.R538K GBP6_ENST00000535065.1_Missense_Mutation_p.R408K NM_198460.2 NP_940862.2 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 538 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) CAGATGGAGAGAGAACACCTA 0.502000 11 1 0 0 0.361761 0 0 MGAM 8972 broad.mit.edu 37 7 141740561 141740561 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:141740561G>A ENST00000475668.2 + 21 2467 c.2413G>A c.(2413-2415)Gaa>Aaa p.E805K MGAM_ENST00000549489.2_Missense_Mutation_p.E805K O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 805 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGTCGAGATGGAACTTCCTGG 0.478000 10 23 0 0 0.335167 0 0 LIMCH1 22998 broad.mit.edu 37 4 41648870 41648870 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr4:41648870C>T ENST00000313860.7 + 12 1679 c.1625C>T c.(1624-1626)tCc>tTc p.S542F LIMCH1_ENST00000509277.1_Missense_Mutation_p.S376F|LIMCH1_ENST00000512946.1_Missense_Mutation_p.S542F|LIMCH1_ENST00000381753.4_Missense_Mutation_p.S376F|LIMCH1_ENST00000513024.1_Missense_Mutation_p.S371F|LIMCH1_ENST00000396595.3_Missense_Mutation_p.S388F|LIMCH1_ENST00000512632.1_Missense_Mutation_p.S542F|LIMCH1_ENST00000508501.1_Missense_Mutation_p.S542F|LIMCH1_ENST00000503057.1_Missense_Mutation_p.S927F|LIMCH1_ENST00000511496.1_Missense_Mutation_p.S383F|LIMCH1_ENST00000514096.1_Missense_Mutation_p.S383F|LIMCH1_ENST00000512820.1_Missense_Mutation_p.S530F NM_014988.2 NP_055803.2 Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 542 actomyosin structure organization actin binding|zinc ion binding central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5) 41 AAGCCTTACTCCCAGCCCAAA 0.488000 37 45 0 0 0.819951 0 0 DMXL1 1657 broad.mit.edu 37 5 118503322 118503322 + Missense_Mutation SNP A A G TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:118503322A>G ENST00000311085.8 + 23 5241 c.5161A>G c.(5161-5163)Att>Gtt p.I1721V DMXL1_ENST00000539542.1_Missense_Mutation_p.I1721V NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1721 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) ATTGAATGACATTCAGTTGGC 0.294000 8 8 0 0 0.278610 0 0 GPR39 2863 broad.mit.edu 37 2 133175121 133175121 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:133175121C>T ENST00000329321.3 + 1 975 c.506C>T c.(505-507)cCc>cTc p.P169L NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 169 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 GTGGCACTGCCCTTGCTGTTT 0.637000 14 20 0 0 0.435327 0 0 GRIK2 2898 broad.mit.edu 37 6 102483315 102483315 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:102483315C>T ENST00000369138.1 + 14 2675 c.2185C>T c.(2185-2187)Ctc>Ttc p.L729F GRIK2_ENST00000421544.1_Missense_Mutation_p.L729F|GRIK2_ENST00000413795.1_Missense_Mutation_p.L729F|GRIK2_ENST00000369134.4_Missense_Mutation_p.L680F|GRIK2_ENST00000318991.6_Missense_Mutation_p.L729F|GRIK2_ENST00000369137.3_Missense_Mutation_p.L653F NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 729 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CCAGCGAGTCCTCACCTCTGA 0.443000 31 93 0 0 0.750413 0 0 TAP2 6891 broad.mit.edu 37 6 32781551 32781551 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:32781551C>T ENST00000452392.2 - 15 2697 c.2524G>A c.(2524-2526)Ggg>Agg p.G842R HLA-DOB_ENST00000438763.2_Missense_Mutation_p.G235R Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 0 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding AAGATTAGCCCAAGTAGGAAG 0.478000 3 3 0 0 0.115264 0 0 RAB2B 84932 broad.mit.edu 37 14 21931882 21931882 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr14:21931882G>A ENST00000397762.1 - 6 507 c.407C>T c.(406-408)gCc>gTc p.A136V RAB2B_ENST00000461909.1_5'UTR NM_001163380.1|NM_032846.3 NP_001156852.1|NP_116235.2 Q8WUD1 RAB2B_HUMAN RAB2B, member RAS oncogene family 136 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane|plasma membrane GTP binding NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 all_cancers(95;0.000858) Epithelial(56;1.53e-06)|all cancers(55;1.44e-05) GBM - Glioblastoma multiforme(265;0.00391) CCTAGCAAAGGCCTCTCCTTC 0.413000 22 51 0 0 0.667858 0 0 ACCS 84680 broad.mit.edu 37 11 44100295 44100295 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:44100295C>T ENST00000263776.8 + 9 1228 c.794C>T c.(793-795)tCc>tTc p.S265F NM_001127219.1|NM_032592.3 NP_001120691.1|NP_115981.1 Q96QU6 1A1L1_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) 265 1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1) 35 GATGTATACTCCCCTGAAGAG 0.587000 10 11 0 0 0.411799 0 0 TBX15 6913 broad.mit.edu 37 1 119469210 119469210 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:119469210C>T ENST00000369429.3 - 3 453 c.444G>A c.(442-444)gtG>gtA p.V148V TBX15_ENST00000207157.3_Silent_p.V42V Q96SF7 TBX15_HUMAN T-box 15 148 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) CAGTGATTTTCACTCTCATGG 0.423000 7 22 0 0 0.335167 0 0 POLR2D 5433 broad.mit.edu 37 2 128608249 128608249 + Nonsense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:128608249G>A ENST00000272645.4 - 3 321 c.265C>T c.(265-267)Cag>Tag p.Q89* POLR2D_ENST00000409955.1_Intron|POLR2D_ENST00000409698.1_Nonsense_Mutation_p.Q51*|POLR2D_ENST00000487079.1_Intron NM_004805.3 NP_004796.1 O15514 RPB4_HUMAN polymerase (RNA) II (DNA directed) polypeptide D 89 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase activity|nucleotide binding large_intestine(1)|lung(4)|urinary_tract(1) 6 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0675) AGCTTTTTCTGGAGtagcaag 0.363000 27 29 0 0 0.681144 0 0 FOLH1 2346 broad.mit.edu 37 11 49175820 49175820 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:49175820C>T ENST00000340334.7 - 17 2171 c.1803G>A c.(1801-1803)atG>atA p.M601I FOLH1_ENST00000356696.3_Missense_Mutation_p.M616I|FOLH1_ENST00000533034.1_Missense_Mutation_p.M601I|FOLH1_ENST00000343844.4_Missense_Mutation_p.M308I|FOLH1_ENST00000256999.2_Missense_Mutation_p.M616I NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 616 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) GTGGATGTTTCATAGAAATAC 0.348000 22 29 0 0 0.639603 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127589 117127589 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:117127589G>A ENST00000310357.3 - 3 1300 c.1279C>T c.(1279-1281)Cgg>Tgg p.R427W GPRC6A_ENST00000368549.3_Missense_Mutation_p.R427W|GPRC6A_ENST00000530250.1_Intron NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 427 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CACAGATCCCGAATGGCATAA 0.458000 9 16 0 0 0.335167 0 0 C15orf54 400360 broad.mit.edu 37 15 39544718 39544718 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:39544718G>A ENST00000318578.3 + 2 750 c.382G>A c.(382-384)Ggg>Agg p.G128R RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.G128R|RP11-624L4.1_ENST00000561058.1_RNA NM_207445.2 NP_997328.1 Q8N8G6 CO054_HUMAN chromosome 15 open reading frame 54 128 NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2) 5 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) TCAGTCTCCTGGGTGGAAGAA 0.473000 28 69 0 0 0.717897 0 0 ATG4B 23192 broad.mit.edu 37 2 242598521 242598521 + Splice_Site SNP A A T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:242598521A>T ENST00000405546.3 + 7 960 c.e7-1 ATG4B_ENST00000404914.3_Splice_Site|ATG4B_ENST00000474739.2_Splice_Site|ATG4B_ENST00000402096.1_Splice_Site|ATG4B_ENST00000396411.3_Splice_Site Q9Y4P1 ATG4B_HUMAN autophagy related 4B, cysteine peptidase autophagic vacuole assembly|protein transport|proteolysis cytoplasm cysteine-type peptidase activity|protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848) TACTCTCTGTAGGAAGCTTGC 0.478000 4 17 0 0 0.150653 0 0 NLRP3 114548 broad.mit.edu 37 1 247587726 247587726 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:247587726G>A ENST00000366497.2 + 4 1761 c.981G>A c.(979-981)cgG>cgA p.R327R NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.R327R|NLRP3_ENST00000336119.3_Silent_p.R327R|NLRP3_ENST00000391827.2_Silent_p.R327R|NLRP3_ENST00000391828.3_Silent_p.R327R|NLRP3_ENST00000348069.2_Silent_p.R327R NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 327 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AGGCCGAGCGGGGAGACATTC 0.582000 18 40 0 0 0.539581 0 0 ZNF823 55552 broad.mit.edu 37 19 11832550 11832550 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:11832550C>T ENST00000341191.6 - 4 1952 c.1799G>A c.(1798-1800)aGa>aAa p.R600K ZNF823_ENST00000545749.1_Missense_Mutation_p.R418K NM_001080493.2 NP_001073962.1 P16415 ZN823_HUMAN zinc finger protein 823 600 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4) 26 CCTTTTATGTCTATGCAAGGA 0.393000 HNSCC(68;0.2) 7 30 0 0 0.307466 0 0 GIMAP8 155038 broad.mit.edu 37 7 150163958 150163958 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:150163958G>A ENST00000307271.3 + 2 746 c.172G>A c.(172-174)Gaa>Aaa p.E58K NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 58 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) GGTCCTGAGAGAAAGGAAGGT 0.478000 82 64 0 0 0.870114 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101795412 101795412 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:101795412G>A ENST00000506729.1 - 5 1140 c.969C>T c.(967-969)gtC>gtT p.V323V SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Silent_p.V323V|SLCO6A1_ENST00000389019.3_Silent_p.V261V|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 323 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) ACCATGCAACGACAGCGGCAA 0.338000 21 57 0 0 0.608945 0 0 NDST4 64579 broad.mit.edu 37 4 115767040 115767040 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr4:115767040G>A ENST00000264363.2 - 10 2732 c.2054C>T c.(2053-2055)cCc>cTc p.P685L NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 685 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CTTGGCTTTGGGGACAAGAGA 0.438000 30 39 0 0 0.740014 0 0 IKBKAP 8518 broad.mit.edu 37 9 111663953 111663953 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr9:111663953G>A ENST00000374647.5 - 17 2170 c.1863C>T c.(1861-1863)gtC>gtT p.V621V IKBKAP_ENST00000537196.1_Silent_p.V272V NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 621 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TCAGACCAAGGACACATTCCT 0.388000 8 22 0 0 0.335167 0 0 SDSL 113675 broad.mit.edu 37 12 113873225 113873225 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:113873225C>T ENST00000403593.4 + 6 797 c.535C>T c.(535-537)Ctg>Ttg p.L179L SDSL_ENST00000345635.4_Silent_p.L179L Q96GA7 SDSL_HUMAN serine dehydratase-like 179 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 15 Pyridoxal Phosphate(DB00114) TGGGGGTCTCCTGGCCGGGGT 0.662000 12 9 0 0 0.387290 0 0 PHLDB2 90102 broad.mit.edu 37 3 111659439 111659439 + Missense_Mutation SNP G G C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:111659439G>C ENST00000431670.2 + 8 2755 c.2344G>C c.(2344-2346)Gag>Cag p.E782Q PHLDB2_ENST00000481953.1_Missense_Mutation_p.E739Q|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E782Q|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E739Q|PHLDB2_ENST00000495180.1_Missense_Mutation_p.E368Q|PHLDB2_ENST00000393923.3_Missense_Mutation_p.E766Q NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 782 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GGCTCAGAGAGAGCAAGATCA 0.353000 6 7 0 0 0.248553 0 0 PLEC 5339 broad.mit.edu 37 8 145001238 145001238 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr8:145001238G>A ENST00000322810.4 - 29 4432 c.4263C>T c.(4261-4263)ctC>ctT p.L1421L PLEC_ENST00000354589.3_Silent_p.L1284L|PLEC_ENST00000356346.3_Silent_p.L1270L|PLEC_ENST00000436759.2_Silent_p.L1311L|PLEC_ENST00000357649.2_Silent_p.L1288L|PLEC_ENST00000354958.2_Silent_p.L1262L|PLEC_ENST00000527096.1_Silent_p.L1307L|PLEC_ENST00000398774.2_Silent_p.L1252L|PLEC_ENST00000345136.3_Silent_p.L1284L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1421 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCACCAGCTGGAGTTCATAGT 0.627000 11 17 0 0 0.387290 0 0 OR10R2 343406 broad.mit.edu 37 1 158450467 158450467 + Missense_Mutation SNP T T C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:158450467T>C ENST00000368152.1 + 1 800 c.800T>C c.(799-801)gTt>gCt p.V267A RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA NM_001004472.1 NP_001004472.1 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, member 2 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) CACCTCAGTGTTGTTATTGTT 0.478000 25 20 0 0 0.654019 0 0 S100A7 6278 broad.mit.edu 37 1 153430314 153430314 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr1:153430314C>T ENST00000368723.3 - 3 384 c.274G>A c.(274-276)Gga>Aga p.G92R S100A7_ENST00000368722.1_Missense_Mutation_p.G92R NM_002963.3 NP_002954.2 P31151 S10A7_HUMAN S100 calcium binding protein A7 92 angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus calcium ion binding|RAGE receptor binding|zinc ion binding breast(1)|large_intestine(2)|lung(5)|skin(2) 10 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GGCGCTGCTCCATGGCTCTGC 0.517000 19 51 0 0 0.575678 0 0 CYP11B1 1584 broad.mit.edu 37 8 143956421 143956421 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr8:143956421G>A ENST00000292427.4 - 8 1382 c.1350C>T c.(1348-1350)tgC>tgT p.C450C CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_Silent_p.C521C NM_000497.3 NP_000488.3 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 1 450 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GCCGCCCAAGGCACTGGCGCA 0.682000 Familial Hyperaldosteronism type I 37 57 0 0 0.827153 0 0 GOLGB1 2804 broad.mit.edu 37 3 121417268 121417268 + Missense_Mutation SNP A A T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:121417268A>T ENST00000393667.3 - 13 2212 c.2102T>A c.(2101-2103)cTc>cAc p.L701H GOLGB1_ENST00000340645.5_Missense_Mutation_p.L696H NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 696 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) GTTTAGCTCGAGCTCCAAAAT 0.363000 10 16 0 0 0.387290 0 0 AHNAK 79026 broad.mit.edu 37 11 62293840 62293840 + Silent SNP A A T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:62293840A>T ENST00000378024.4 - 5 8323 c.8049T>A c.(8047-8049)atT>atA p.I2683I AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2683 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) CTGGTCCTTCAATGTTAACAT 0.483000 22 71 0 0 0.592651 0 0 SHANK2 22941 broad.mit.edu 37 11 70319502 70319502 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:70319502C>T ENST00000338508.4 - 33 5024 c.5025G>A c.(5023-5025)acG>acA p.T1675T SHANK2_ENST00000409161.1_Silent_p.T1078T|SHANK2_ENST00000449833.2_Silent_p.T1079T|SHANK2_ENST00000423696.2_Silent_p.T1295T Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1295 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) AGGTGACCGTCGTGCTCCGTG 0.602000 17 18 0 0 0.539581 0 0 SVOP 55530 broad.mit.edu 37 12 109306352 109306352 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:109306352C>T ENST00000299134.5 - 14 1409 c.1410G>A c.(1408-1410)acG>acA p.T470T NM_018711.2 NP_061181.1 Q8N4V2 SVOP_HUMAN SV2 related protein homolog (rat) 0 cell junction|integral to membrane|synaptic vesicle membrane ion transmembrane transporter activity breast(2)|lung(4) 6 ACACCTGCACCGTGCATTCCT 0.627000 83 55 0 0 0.870114 0 0 PLA1A 51365 broad.mit.edu 37 3 119334876 119334876 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr3:119334876C>T ENST00000273371.4 + 6 754 c.682C>T c.(682-684)Ccc>Tcc p.P228S PLA1A_ENST00000495992.1_Missense_Mutation_p.P212S|PLA1A_ENST00000494440.1_Missense_Mutation_p.P212S|PLA1A_ENST00000488919.1_Missense_Mutation_p.P55S NM_015900.3 NP_056984.1 Q53H76 PLA1A_HUMAN phospholipase A1 member A 228 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TATTCGGATTCCCGTTGGACA 0.522000 4 10 0 0 0.184627 0 0 DMBT1 1755 broad.mit.edu 37 10 124399762 124399762 + Silent SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr10:124399762C>T ENST00000368909.3 + 52 6868 c.6762C>T c.(6760-6762)gaC>gaT p.D2254D DMBT1_ENST00000344338.3_Silent_p.D2244D|DMBT1_ENST00000368956.2_Silent_p.D1626D|DMBT1_ENST00000359586.6_Silent_p.D974D|DMBT1_ENST00000330163.4_Silent_p.D1626D|DMBT1_ENST00000368955.3_Silent_p.D2244D|DMBT1_ENST00000338354.3_Silent_p.D2254D NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2254 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GCAATTTTGACGTGAACATTT 0.463000 25 48 0 0 0.667858 0 0 DSG3 1830 broad.mit.edu 37 18 29054145 29054145 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr18:29054145G>A ENST00000257189.4 + 15 2246 c.2163G>A c.(2161-2163)atG>atA p.M721I NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 721 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GAATGGAAATGACCACTAAGC 0.493000 20 4 0 0 0.592651 0 0 RAD17 5884 broad.mit.edu 37 5 68667346 68667346 + Missense_Mutation SNP T T C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:68667346T>C ENST00000509734.1 + 3 682 c.4T>C c.(4-6)Tca>Cca p.S2P RAD17_ENST00000354868.5_5'UTR|RAD17_ENST00000305138.4_Intron|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000282891.6_Intron|RAD17_ENST00000354312.3_Intron|RAD17_ENST00000358030.2_Intron|RAD17_ENST00000361732.2_Intron|RAD17_ENST00000345306.6_Intron|RAD17_ENST00000521422.1_Intron|RAD17_ENST00000380774.3_Missense_Mutation_p.S2P O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 2 cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) GTTTATAATGTCAAAAACTTT 0.353000 Other conserved DNA damage response genes 20 18 0 0 0.639603 0 0 IGHE 3497 broad.mit.edu 37 14 106066370 106066370 + RNA SNP T T C rs1134593 TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr14:106066370T>C ENST00000412518.1 - 0 6 IGHE_ENST00000577108.1_RNA|IGHE_ENST00000576077.1_RNA CACAGCTGGATGGAGCCCTGG 0.602000 5 99 0 0 0.248553 0 0 ST18 9705 broad.mit.edu 37 8 53084721 53084721 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr8:53084721G>A ENST00000276480.7 - 10 1383 c.700C>T c.(700-702)Cct>Tct p.P234S NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 234 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTTATTTCAGGAACTTCCAAT 0.418000 22 35 0 0 0.608945 0 0 LIG1 3978 broad.mit.edu 37 19 48643347 48643347 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr19:48643347G>A ENST00000263274.7 - 12 1387 c.968C>T c.(967-969)tCg>tTg p.S323L LIG1_ENST00000536218.1_Missense_Mutation_p.S255L|LIG1_ENST00000427526.2_Missense_Mutation_p.S292L NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 323 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) GTCTGGAGGCGACAGGGCCAC 0.632000 Nucleotide excision repair (NER) 10 35 0 0 0.361761 0 0 LLGL2 3993 broad.mit.edu 37 17 73569700 73569700 + Missense_Mutation SNP C C G TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr17:73569700C>G ENST00000392550.3 + 21 2981 c.2864C>G c.(2863-2865)cCg>cGg p.P955R LLGL2_ENST00000167462.5_Missense_Mutation_p.P955R|LLGL2_ENST00000577200.1_Missense_Mutation_p.P955R NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 955 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) AAGAAGGCCCCGAGCCGAGCC 0.667000 5 18 0 0 0.278610 0 0 DNAH7 56171 broad.mit.edu 37 2 196729224 196729224 + Silent SNP C C T rs150035002 TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:196729224C>T ENST00000312428.6 - 41 7255 c.7155G>A c.(7153-7155)agG>agA p.R2385R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2385 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.R2385R(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CCGCACATTTCCTTAAGATCA 0.388000 30 27 0 0 0.729181 0 0 WASH6P 653440 broad.mit.edu 37 X 155255094 155255094 + RNA SNP T T C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chrX:155255094T>C ENST00000285718.7 + 0 1399 WASH6P_ENST00000461007.1_RNA TGCTCTGACATGGACACAGCC 0.617000 4 7 0 0 0.184627 0 0 BEND4 389206 broad.mit.edu 37 4 42145778 42145778 + Missense_Mutation SNP G G C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr4:42145778G>C ENST00000502486.1 - 3 1300 c.721C>G c.(721-723)Caa>Gaa p.Q241E BEND4_ENST00000504360.1_Missense_Mutation_p.Q237E NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 241 NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 GCAGAAGTTTGTTGTTTCCTT 0.453000 10 15 0 0 0.361761 0 0 C5orf42 65250 broad.mit.edu 37 5 37196031 37196031 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:37196031C>T ENST00000274258.7 - 21 3970 c.383G>A c.(382-384)gGa>gAa p.G128E C5orf42_ENST00000425232.2_Missense_Mutation_p.G1247E|C5orf42_ENST00000508244.1_Missense_Mutation_p.G1247E E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1247 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TGCGATACCTCCTTTACAGTA 0.378000 28 30 0 0 0.706142 0 0 LRGUK 136332 broad.mit.edu 37 7 133943151 133943151 + Missense_Mutation SNP C C T rs113393042 byFrequency TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:133943151C>T ENST00000285928.2 + 19 2410 c.2341C>T c.(2341-2343)Cgg>Tgg p.R781W NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 781 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 CGAAGAGACCCGGAAAGGTAT 0.557000 20 22 0 0 0.557998 0 0 BBS10 79738 broad.mit.edu 37 12 76739666 76739666 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:76739666G>A ENST00000393262.3 - 2 2182 c.2099C>T c.(2098-2100)aCc>aTc p.T700I NM_024685.3 NP_078961.3 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 700 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 CATGTCAATGGTTAATATTTT 0.353000 Bardet-Biedl syndrome 19 19 0 0 0.539581 0 0 DDB1 1642 broad.mit.edu 37 11 61090509 61090509 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr11:61090509G>A ENST00000301764.7 - 8 1376 c.979C>T c.(979-981)Cgc>Tgc p.R327C DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'UTR NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 327 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 TCACCCAGGCGAGACCCGACA 0.438000 Nucleotide excision repair (NER) 16 10 0 0 0.520397 0 0 TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G G A rs112083427 TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:170871052G>A ENST00000392092.2 + 3 507 c.228G>A c.(226-228)caG>caA p.Q76Q TBP_ENST00000230354.6_Silent_p.Q76Q|TBP_ENST00000540980.1_Silent_p.Q56Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q76Q(4) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.572000 5 28 0 0 0.184627 0 0 KRT20 54474 broad.mit.edu 37 17 39041328 39041328 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr17:39041328C>T ENST00000167588.3 - 1 151 c.110G>A c.(109-111)gGg>gAg p.G37E NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 37 Head. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) TCCAGCACCCCCATAAACGCT 0.612000 34 8 0 0 0.812448 0 0 PWP1 11137 broad.mit.edu 37 12 108090341 108090341 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr12:108090341C>T ENST00000412830.3 + 6 761 c.593C>T c.(592-594)cCt>cTt p.P198L PWP1_ENST00000541166.1_Missense_Mutation_p.P136L NM_007062.1 NP_008993.1 Q13610 PWP1_HUMAN PWP1 homolog (S. cerevisiae) 198 transcription, DNA-dependent nucleus breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1) 23 AATTTTGATCCTAGCCCAGAT 0.333000 18 32 0 0 0.557998 0 0 NT5C1B 93034 broad.mit.edu 37 2 18766203 18766203 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr2:18766203G>A ENST00000304081.4 - 4 400 c.300C>T c.(298-300)tcC>tcT p.S100S NT5C1B_ENST00000600945.1_Silent_p.S160S|NT5C1B-RDH14_ENST00000532967.1_Silent_p.S160S|NT5C1B_ENST00000359846.2_Silent_p.S160S NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GCAGGCTTGGGGAGGTGGATG 0.701000 4 6 0 0 0.150653 0 0 DSCAM 1826 broad.mit.edu 37 21 42080524 42080524 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr21:42080524G>A ENST00000400454.1 - 2 694 c.217C>T c.(217-219)Cgc>Tgc p.R73C NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 73 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGACGTGGCGGATCCCGGGG 0.552000 15 60 0 0 0.457914 0 0 OR4K5 79317 broad.mit.edu 37 14 20389642 20389642 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr14:20389642G>A ENST00000315915.4 + 1 902 c.877G>A c.(877-879)Gat>Aat p.D293N NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AAGGAATAGGGATATGAAGGC 0.398000 42 103 0 0 0.847076 0 0 SIRPB2 284759 broad.mit.edu 37 20 1457880 1457880 + Missense_Mutation SNP T T C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr20:1457880T>C ENST00000537284.1 - 5 884 c.548A>G c.(547-549)aAc>aGc p.N183S SIRPB2_ENST00000381630.1_3'UTR|SIRPB2_ENST00000359801.3_Intron|SIRPB2_ENST00000444444.1_Intron Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 0 Ig-like V-type 2. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TGGTGGCAGGTTAGCCCCAGG 0.537000 17 23 0 0 0.500413 0 0 NPAP1 23742 broad.mit.edu 37 15 24922213 24922213 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr15:24922213C>T ENST00000329468.2 + 1 1673 c.1199C>T c.(1198-1200)tCt>tTt p.S400F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTGCCCCTTCTTTCTCCCAA 0.532000 4 23 0 0 0.184627 0 0 ANKRD6 22881 broad.mit.edu 37 6 90333234 90333234 + Missense_Mutation SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:90333234G>A ENST00000369408.5 + 10 1247 c.898G>A c.(898-900)Gat>Aat p.D300N ANKRD6_ENST00000522441.1_Missense_Mutation_p.D335N|ANKRD6_ENST00000339746.4_Missense_Mutation_p.D335N|ANKRD6_ENST00000447838.2_Missense_Mutation_p.D335N|LYRM2_ENST00000520441.1_Intron|ANKRD6_ENST00000520793.1_Missense_Mutation_p.D276N NM_001242813.1 NP_001229742.1 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 335 protein binding NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2) 21 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) CAGAGCAAAGGATGACAGGAG 0.597000 7 6 0 0 0.278610 0 0 FBN2 2201 broad.mit.edu 37 5 127700391 127700391 + Missense_Mutation SNP T T C TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:127700391T>C ENST00000508053.1 - 24 3304 c.2330A>G c.(2329-2331)gAt>gGt p.D777G FBN2_ENST00000262464.4_Missense_Mutation_p.D777G|FBN2_ENST00000508989.1_Missense_Mutation_p.D744G P35556 FBN2_HUMAN fibrillin 2 777 EGF-like 11; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGCACATATATCAGGATCCAA 0.358000 9 22 0 0 0.307466 0 0 ANKH 56172 broad.mit.edu 37 5 14758613 14758613 + Silent SNP G G A TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr5:14758613G>A ENST00000284268.6 - 3 738 c.408C>T c.(406-408)gcC>gcT p.A136A NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 136 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 AAGGAAAGGCGGCGAGGTACA 0.418000 9 20 0 0 0.335167 0 0 TRIM15 89870 broad.mit.edu 37 6 30139833 30139833 + Frame_Shift_Del DEL G G - TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr6:30139833delG ENST00000376694.4 + 7 1574 c.1105delG c.(1105-1107)ggfs p.G369fs TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 369 B30.2/SPRY. mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 GGGGGTGGCCGGGGAGGGGGT 0.731 3 5 --- --- --- --- POM121 9883 broad.mit.edu 37 7 72413723 72413724 + In_Frame_Ins INS - - CTC rs67569765 byFrequency TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr7:72413723_72413724insCTC ENST00000395270.1 + 14 3437_3438 c.2396_2397insCTC c.(2395-2397)ttt>tCTCtt p.799_799F>SL POM121_ENST00000434423.2_In_Frame_Ins_p.1064_1064F>SL|POM121_ENST00000358357.3_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000446813.1_In_Frame_Ins_p.799_799F>SL|POM121_ENST00000257622.4_In_Frame_Ins_p.799_799F>SL NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1064 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) ACTGCTGTCTTCTTCGGTGCAG 0.663 7 86 --- --- --- --- ZNF395 55893 broad.mit.edu 37 8 28209226 28209228 + In_Frame_Del DEL GCA GCA - rs142343457 byFrequency TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr8:28209226_28209228delGCA ENST00000344423.5 - 7 1148_1150 c.1017_1019delTGC c.(1015-1020)gcc>gc p.AA339del ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 339 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) GGTGCCTgcggcagcagcagcag 0.606 7 126 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98287894 98287895 + Frame_Shift_Ins INS - - AT TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr10:98287894_98287895insAT ENST00000371142.4 - 12 1650_1651 c.1434_1435insAT c.(1432-1437)taatgtfs p.C479fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 479 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) CCATAGACATAATAGATCTTAT 0.376 14 30 --- --- --- --- RP11-67H24.2 0 broad.mit.edu 37 16 32823636 32823637 + RNA INS - - C rs112857933 TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d432e99a-67fb-4609-b90f-99438eee7cae 33941005-40a5-45da-a497-bd3fcfbbec30 g.chr16:32823636_32823637insC ENST00000569859.1 + 0 373 TTGCTGGAGTGGATGTGACAGG 0.495 5 10 --- --- --- ---